{ "uniprot_canonical_ac": "A1L4H1-1", "sequence": { "header": "sp|A1L4H1-1|SRCRL_HUMAN Isoform 1 of Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D OS=Homo sapiens OX=9606 GN=SSC5D PE=1 SV=3 CANONICAL=A1L4H1-1", "length": 1573, "sequence": "MRVLACLLAALVGIQAVERLRLADGPHGCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRQLGCGGALAAPGGAFFGEGAGPVWLSELACRGNEGQLGLCHHRGWKAHICSHEEDAGVVCAGQRVANSRDDSTSPLDGAPWPGLLLELSPSTEEPLVTHAPRPAGNPQNASRKKSPRPKQAKSTRAPLLTTGAPRQERLRLVSGPHRCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRELGCGGALAAPGGARFGPGAGPVWMDDVGCGGGEQALRDCPRSPWGRSNCDHSEDAGLVCTGPAPRLRLADGPHGCAGRLEVWHGGRWGSVCDDAWDLRDAAVACRELGCGGALAAPGGAFFGEGSGPIILDDLRCRGNETALRFCPARPWGQHDCHHREDAGAVCDGMPLGYVPPTAPTDSNNSTPREAASRPPSTMTSQAPGTAGVSPPPASPTVLWEPGPEAGSPQLRLVAGPSKCSGRLEVWHDQRWGTVCDDSWDMRDSAVVCRELGCGGPQQPDPAAGRFGWGAGPIWLDDVGCVGTEASLSDCPAAPWGKHNCAHNEDVGVTCTGPPGLDSISDPFSWSWIPGLGRDRDAWLPGELATKPSASVTASVLEKTTTKAPGKMPKSTKKWVTKNAKRPTTQPPVMPTTKHSRAQSPPDLTSQTTAALTTEASRRPTSEFTRRPTTEAPQRWTSHTTATLTPQAPRERTTKTMAMLTTQGPQEMTSESTIKSIPQASLEPSAEIPEGSPESPKDPAPSPSVSTTGESGLFRVRLADGPNRCAGRLEVWHAGRWGTVCDDNWDLRDATVACWELGCGKVRPRVGKTHYGPGTGPIWLDDMGCKGSEASLSDCPSGAWGKHNCDHEEDVGLTCTGYTDYDDYPPWTWDPTSREDLAKGTTTAGVPGHTLPWRTTRRPGSSSPAIRRLPDTGSKDGYKLPWTWDTPSGRGLAEGTPTAGKLGPTLGAGTTRSPGSPPTLRVHGDTGSPRKPWPERRPPRPAATRTAPPTPSPGPSASPGPPGPALTSDSSRELTPHSALTSEATSDAPDTSPPTPDPASRTNPDLILTSPDFALSTPDSSVVPALTPEPSPTPLPTLPKELTSDPSTPSEVTSLSPTSEQVPESDTTPDLDTTPYSSTVSEYSRSPDPSPSPHPTTTPDPTMAPDPITTLNPTVTPHFPTTPHPTTTPHPTTITHSTMIPDPTTTPQPFTTITHSTMIPDPTTTPQPFTTMQPTTTPHSTTPHPTTTPHPTTITHSTMIPDPTTTPQPFTTMQPTTMPHPTTTPHPTTTPHPTTTPHPTTTPHPTMTPDPTTTPYPTTTPDPTTTPHPTTPDPSSTPVITTVSLPTSLGTELSSPTLAPTVKPSLHPQLTFTAPAPHTSTSQIPTLEPSPALESSPSRSSTATSMDPLSTEDFKPPRSQSPNLTPPPTHTPHSASDLTVSPDPLLSPTAHPLDHPPLDPLTLGPTPGQSPGPHGPCVAPTPPVRVMACEPPALVELVAAVRDVGGQLQRLTQVVEQERQERQALLLGLTQLVEAARGLGQLGEAVKRLAEMAWTTSMPAPTTTTPEEEERPLRGDV" }, "uniprot_id": "SRCRL_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "soluble scavenger receptor cysteine-rich domain-containing protein SSC5D isoform 1 precursor", "soluble scavenger with 5 domains; soluble scavenger receptor cysteine-rich domain-containing protein SSC5D; scavenger receptor cysteine-rich glycoprotein; soluble scavenger protein with 5 SRCR domains; scavenger receptor cysteine rich domain containing (5 domains); scavenger receptor cysteine rich family, 5 domains" ], "uniprotkb": [ "Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D", "Soluble scavenger protein with 5 SRCR domains", "SSc5D" ] }, "gene": { "refseq": [ "SSC5D", "S5D-SRCRB" ], "uniprotkb": [ "SSC5D", "S5D-SRCRB" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D; Soluble scavenger protein with 5 SRCR domains; SSc5D." }, "publication": [ { "title": "Mapping the O-glycoproteome using site-specific extraction of O-linked glycopeptides (EXoO).", "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "journal": "Molecular systems biology", "evidence": [ { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "authors": "Yang W, Ao M, Hu Y, Li QK, Zhang H", "date": "2018", "pmid": "30459171" }, { "title": "Molecular cloning and analysis of SSc5D, a new member of the scavenger receptor cysteine-rich superfamily.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19535143", "journal": "Mol. Immunol.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "authors": "Oliveira C., Pinheiro H.C., Carmo A.M., Castro M.A., Davis S.J., Moreira A., Oliveira M.I., Evans E.J., Goncalves C.M., Henriques T., Sreenu V.B.", "date": "2009", "pmid": "19535143" } ], "glycosylation": [ { "residue": "Thr", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 1558, "glytoucan_ac": "G73004SD", "type": "O-linked" }, { "residue": "Ser", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 758, "glytoucan_ac": "G53434XO", "type": "O-linked" }, { "residue": "Ser", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 760, "glytoucan_ac": "G43417UB", "type": "O-linked" }, { "residue": "Thr", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 884, "glytoucan_ac": "G43417UB", "type": "O-linked" }, { "residue": "Thr", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 1047, "glytoucan_ac": "G73004SD", "type": "O-linked" }, { "residue": "Thr", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 1445, "glytoucan_ac": "G43417UB", "type": "O-linked" }, { "residue": "Thr", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 157, "glytoucan_ac": "G43417UB", "type": "O-linked" }, { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1#PTM_processing", "id": "A1L4H1", "database": "UniProtKB" } ], "relation": "attached", "position": 168, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Thr", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 939, "glytoucan_ac": "G43417UB", "type": "O-linked" }, { "residue": "Ser", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 581, "glytoucan_ac": "G43417UB", "type": "O-linked" }, { "residue": "Thr", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 1458, "glytoucan_ac": "G43417UB", "type": "O-linked" }, { "residue": "Ser", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 1466, "glytoucan_ac": "G43417UB", "type": "O-linked" }, { "residue": "Thr", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 1558, "glytoucan_ac": "G53434XO", "type": "O-linked" }, { "residue": "Thr", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 1047, "glytoucan_ac": "G57317CE", "type": "O-linked" }, { "residue": "Thr", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 1462, "glytoucan_ac": "G58001LT", "type": "O-linked" }, { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1#PTM_processing", "id": "A1L4H1", "database": "UniProtKB" } ], "relation": "attached", "position": 420, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Thr", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 1558, "glytoucan_ac": "G29063QY", "type": "O-linked" }, { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1#PTM_processing", "id": "A1L4H1", "database": "UniProtKB" } ], "relation": "attached", "position": 376, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Thr", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 453, "glytoucan_ac": "G43417UB", "type": "O-linked" }, { "residue": "Thr", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 764, "glytoucan_ac": "G43417UB", "type": "O-linked" }, { "residue": "Thr", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/30459171", "id": "30459171", "database": "PubMed" }, { "url": "http://unicarbkb.org/proteinsummary/A1L4H1/annotated", "id": "A1L4H1", "database": "UniCarbKB" } ], "relation": "attached", "position": 1462, "glytoucan_ac": "G43417UB", "type": "O-linked" } ], "mutation": [ { "start_pos": 1456, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "1.5", "annotation": "Filters passed (2/5): patient freq. (1.5%); num. of cancers (5).", "sequence_org": "P", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "S", "subjects_tested": "66", "end_pos": 1456, "type": "Point mutation" }, { "start_pos": 708, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs945743306.", "sequence_org": "R", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "Liver cancer" }, "sequence_mut": "W", "subjects_tested": "412", "end_pos": 708, "type": "Point mutation" }, { "start_pos": 466, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Q", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "K", "subjects_tested": "50", "end_pos": 466, "type": "Point mutation" }, { "start_pos": 708, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs945743306.", "sequence_org": "R", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "W", "subjects_tested": "558", "end_pos": 708, "type": "Point mutation" }, { "start_pos": 24, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "D", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "E", "subjects_tested": "50", "end_pos": 24, "type": "Point mutation" }, { "start_pos": 246, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "D", "subjects_tested": "50", "end_pos": 246, "type": "Point mutation" }, { "start_pos": 234, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "V", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "I", "subjects_tested": "50", "end_pos": 234, "type": "Point mutation" }, { "start_pos": 333, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "W", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "L", "subjects_tested": "50", "end_pos": 333, "type": "Point mutation" }, { "start_pos": 458, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "1.4", "annotation": "Filters passed (1/5): patient freq. (1.4%).", "sequence_org": "P", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "S", "subjects_tested": "72", "end_pos": 458, "type": "Point mutation" }, { "start_pos": 85, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "S", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "R", "subjects_tested": "50", "end_pos": 85, "type": "Point mutation" }, { "start_pos": 407, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "P", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "T", "subjects_tested": "50", "end_pos": 407, "type": "Point mutation" }, { "start_pos": 1306, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "D", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "H", "subjects_tested": "50", "end_pos": 1306, "type": "Point mutation" }, { "start_pos": 1236, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "S", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "P", "subjects_tested": "50", "end_pos": 1236, "type": "Point mutation" }, { "start_pos": 1456, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (5).", "sequence_org": "P", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "S", "subjects_tested": "955", "end_pos": 1456, "type": "Point mutation" }, { "start_pos": 466, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Q", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "*", "subjects_tested": "50", "end_pos": 466, "type": "Point mutation" }, { "start_pos": 113, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "E", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "G", "subjects_tested": "50", "end_pos": 113, "type": "Point mutation" }, { "start_pos": 309, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "A", "subjects_tested": "50", "end_pos": 309, "type": "Point mutation" }, { "start_pos": 1207, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "T", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "N", "subjects_tested": "50", "end_pos": 1207, "type": "Point mutation" }, { "start_pos": 62, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "D", "subjects_tested": "50", "end_pos": 62, "type": "Point mutation" }, { "start_pos": 708, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs945743306.", "sequence_org": "R", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "W", "subjects_tested": "456", "end_pos": 708, "type": "Point mutation" }, { "start_pos": 30, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "A", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "T", "subjects_tested": "50", "end_pos": 30, "type": "Point mutation" }, { "start_pos": 33, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "L", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "P", "subjects_tested": "50", "end_pos": 33, "type": "Point mutation" }, { "start_pos": 1456, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "0.4", "annotation": "Filters passed (1/5): num. of cancers (5).", "sequence_org": "P", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "S", "subjects_tested": "254", "end_pos": 1456, "type": "Point mutation" }, { "start_pos": 1139, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.6", "annotation": "Filters passed (1/5): patient freq. (2.6%).", "sequence_org": "Y", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "H", "subjects_tested": "38", "end_pos": 1139, "type": "Point mutation" }, { "start_pos": 1246, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "H", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "Q", "subjects_tested": "50", "end_pos": 1246, "type": "Point mutation" }, { "start_pos": 322, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "W", "subjects_tested": "50", "end_pos": 322, "type": "Point mutation" }, { "start_pos": 1254, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "T", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "P", "subjects_tested": "50", "end_pos": 1254, "type": "Point mutation" }, { "start_pos": 1456, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "0.5", "annotation": "Filters passed (1/5): num. of cancers (5).", "sequence_org": "P", "disease": { "doid": "3953", "url": "http://disease-ontology.org/term/DOID:3953", "icd10": "", "name": "Adrenal gland cancer" }, "sequence_mut": "S", "subjects_tested": "183", "end_pos": 1456, "type": "Point mutation" }, { "start_pos": 64, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "E", "subjects_tested": "50", "end_pos": 64, "type": "Point mutation" }, { "start_pos": 1456, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "0.8", "annotation": "Filters passed (1/5): num. of cancers (5).", "sequence_org": "P", "disease": { "doid": "263", "url": "http://disease-ontology.org/term/DOID:263", "icd10": "", "name": "Kidney cancer" }, "sequence_mut": "S", "subjects_tested": "132", "end_pos": 1456, "type": "Point mutation" }, { "start_pos": 1290, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "T", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "P", "subjects_tested": "50", "end_pos": 1290, "type": "Point mutation" }, { "start_pos": 95, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "Q", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "K", "subjects_tested": "50", "end_pos": 95, "type": "Point mutation" }, { "start_pos": 176, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A1L4H1", "id": "A1L4H1", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "R", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "G", "subjects_tested": "50", "end_pos": 176, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1#A1L4H1-2", "isoform_ac": "A1L4H1-2", "locus": { "end_pos": 55488590, "start_pos": 55504183, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000587166", "id": "ENST00000587166", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000467252", "id": "ENSP00000467252", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1L4H1-2|SRCRL_HUMAN Isoform 2 of Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D OS=Homo sapiens OX=9606 GN=SSC5D PE=1 SV=3 CANONICAL=A1L4H1-1", "length": 951, "sequence": "MRVLACLLAALVGIQAVERLRLADGPHGCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRQLGCGGALAAPGGAFFGEGAGPVWLSELACRGNEGQLGLCHHRGWKAHICSHEEDAGVVCAGQRVANSRDDSTSPLDGAPWPGLLLELSPSTEEPLVTHAPRPAGNPQNASRKKSPRPKQAKSTRAPLLTTGAPRQERLRLVSGPHRCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRELGCGGALAAPGGARFGPGAGPVWMDDVGCGGGEQALRDCPRSPWGRSNCDHSEDAGLVCTGPAPRLRLADGPHGCAGRLEVWHGGRWGSVCDDAWDLRDAAVACRELGCGGALAAPGGAFFGEGSGPIILDDLRCRGNETALRFCPARPWGQHDCHHREDAGAVCDGMPLGYVPPTAPTDSNNSTPREAASRPPSTMTSQAPGTAGVSPPPASPTVLWEPGPEAGSPQLRLVAGPSKCSGRLEVWHDQRWGTVCDDSWDMRDSAVVCRELGCGGPQQPDPAAGRFGWGAGPIWLDDVGCVGTEASLSDCPAAPWGKHNCAHNEDVGVTCTGPPGLDSISDPFSWSWIPGLGRDRDAWLPGELATKPSASVTASVLEKTTTKAPGKMPKSTKKWVTKNAKRPTTQPPVMPTTKHSRAQSPPDLTSQTTAALTTEASRRPTSEFTRRPTTEAPQRWTSHTTATLTPQAPRERTTKTMAMLTTQGPQEMTSESTIKSIPQASLEPSAEIPEGSPESPKDPAPSPSVSTTGESGLFRVRLADGPNRCAGRLEVWHAGRWGTVCDDNWDLRDATVACWELGCGKVRPRVGKTHYGPGTGPIWLDDMGCKGSEASLSDCPSGAWGKHNCDHEEDVGLTCTGYTDYDDYPPWTWDPTSREDLAKGTTTAGVPGHTLPWRTTRRPGSSSPAIRRLPDTEPEAGAPRGDAPRSRTARVAAPP" } }, { "url": "https://www.uniprot.org/uniprot/A1L4H1#K7EPL3-1", "isoform_ac": "K7EPL3-1", "locus": { "end_pos": 55493891, "start_pos": 55499973, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000589020", "id": "ENST00000589020", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000467434", "id": "ENSP00000467434", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|K7EPL3-1|SRCRL_HUMAN Computationally mapped isoform of Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D OS=Homo sapiens OX=9606 GN=SSC5D PE=1 SV=2 CANONICAL=A1L4H1-1", "length": 118, "sequence": "DAGAVCDGMPLGYVPPTAPTDSNNSTPREAASRPPSTMTSQAPGTAGVSPPPASPTVLWEPGPEAGPPGLDSISDPFSWSWIPGLGRDRDAWLPGELATKPSASVTASVLEKTTTKAP" } }, { "url": "https://www.uniprot.org/uniprot/A1L4H1#A1L4H1-1", "isoform_ac": "A1L4H1-1", "locus": { "end_pos": 55488590, "start_pos": 55518995, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000389623", "id": "ENST00000389623", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000374274", "id": "ENSP00000374274", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A1L4H1-1|SRCRL_HUMAN Isoform 1 of Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D OS=Homo sapiens OX=9606 GN=SSC5D PE=1 SV=3 CANONICAL=A1L4H1-1", "length": 1573, "sequence": "MRVLACLLAALVGIQAVERLRLADGPHGCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRQLGCGGALAAPGGAFFGEGAGPVWLSELACRGNEGQLGLCHHRGWKAHICSHEEDAGVVCAGQRVANSRDDSTSPLDGAPWPGLLLELSPSTEEPLVTHAPRPAGNPQNASRKKSPRPKQAKSTRAPLLTTGAPRQERLRLVSGPHRCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRELGCGGALAAPGGARFGPGAGPVWMDDVGCGGGEQALRDCPRSPWGRSNCDHSEDAGLVCTGPAPRLRLADGPHGCAGRLEVWHGGRWGSVCDDAWDLRDAAVACRELGCGGALAAPGGAFFGEGSGPIILDDLRCRGNETALRFCPARPWGQHDCHHREDAGAVCDGMPLGYVPPTAPTDSNNSTPREAASRPPSTMTSQAPGTAGVSPPPASPTVLWEPGPEAGSPQLRLVAGPSKCSGRLEVWHDQRWGTVCDDSWDMRDSAVVCRELGCGGPQQPDPAAGRFGWGAGPIWLDDVGCVGTEASLSDCPAAPWGKHNCAHNEDVGVTCTGPPGLDSISDPFSWSWIPGLGRDRDAWLPGELATKPSASVTASVLEKTTTKAPGKMPKSTKKWVTKNAKRPTTQPPVMPTTKHSRAQSPPDLTSQTTAALTTEASRRPTSEFTRRPTTEAPQRWTSHTTATLTPQAPRERTTKTMAMLTTQGPQEMTSESTIKSIPQASLEPSAEIPEGSPESPKDPAPSPSVSTTGESGLFRVRLADGPNRCAGRLEVWHAGRWGTVCDDNWDLRDATVACWELGCGKVRPRVGKTHYGPGTGPIWLDDMGCKGSEASLSDCPSGAWGKHNCDHEEDVGLTCTGYTDYDDYPPWTWDPTSREDLAKGTTTAGVPGHTLPWRTTRRPGSSSPAIRRLPDTGSKDGYKLPWTWDTPSGRGLAEGTPTAGKLGPTLGAGTTRSPGSPPTLRVHGDTGSPRKPWPERRPPRPAATRTAPPTPSPGPSASPGPPGPALTSDSSRELTPHSALTSEATSDAPDTSPPTPDPASRTNPDLILTSPDFALSTPDSSVVPALTPEPSPTPLPTLPKELTSDPSTPSEVTSLSPTSEQVPESDTTPDLDTTPYSSTVSEYSRSPDPSPSPHPTTTPDPTMAPDPITTLNPTVTPHFPTTPHPTTTPHPTTITHSTMIPDPTTTPQPFTTITHSTMIPDPTTTPQPFTTMQPTTTPHSTTPHPTTTPHPTTITHSTMIPDPTTTPQPFTTMQPTTMPHPTTTPHPTTTPHPTTTPHPTTTPHPTMTPDPTTTPYPTTTPDPTTTPHPTTPDPSSTPVITTVSLPTSLGTELSSPTLAPTVKPSLHPQLTFTAPAPHTSTSQIPTLEPSPALESSPSRSSTATSMDPLSTEDFKPPRSQSPNLTPPPTHTPHSASDLTVSPDPLLSPTAHPLDHPPLDPLTLGPTPGQSPGPHGPCVAPTPPVRVMACEPPALVELVAAVRDVGGQLQRLTQVVEQERQERQALLLGLTQLVEAARGLGQLGEAVKRLAEMAWTTSMPAPTTTTPEEEERPLRGDV" } }, { "url": "https://www.uniprot.org/uniprot/A1L4H1#M0QZ17-1", "isoform_ac": "M0QZ17-1", "locus": { "end_pos": 55488590, "start_pos": 55489571, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000594321", "id": "ENST00000594321", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000470226", "id": "ENSP00000470226", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|M0QZ17-1|SRCRL_HUMAN Computationally mapped isoform of Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D OS=Homo sapiens OX=9606 GN=SSC5D PE=1 SV=1 CANONICAL=A1L4H1-1", "length": 90, "sequence": "MRVLACLLAALVGIQAVERLRLADGPHGCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRQLGCGGALAAPGGAFFGEGAGPVWLSELACR" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:284297", "resource": "KEGG Pathway", "id": "hsa:284297", "name": "" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000471", "resource": "Reactome", "id": "R-HSA-3000471", "name": "Scavenging by Class B Receptors" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1#function", "annotation": "Binds to extracellular matrix proteins. Binds to pathogen-associated molecular patterns (PAMPs) present on the cell walls of Gram-positive and Gram-negative bacteria and fungi, behaving as a pattern recognition receptor (PRR). Induces bacterial and fungal aggregation and subsequent inhibition of PAMP-induced cytokine release. Does not possess intrinsic bactericidal activity. May play a role in the innate defense and homeostasis of certain epithelial surfaces (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1#function", "id": "A1L4H1", "database": "UniProtKB" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q8BV57-1", "protein_name": "Soluble scavenger receptor cysteine-rich domain-containing protein SSC5D; Scavenger receptor cysteine-rich domain-containing protein LOC284297 homolog.", "sequence": { "length": 1371, "sequence": "MRGLACLLAMLVGIQAIERLRLADGPHGCAGRLEVWHSGRWGTVCDDGWDLRDAEVACRVLGCGGALAAPGGAFFGEGTGPVWLSELNCRGNEGQLGICPHRGWKAHICSHEEDAGVVCVGQRAANSREDSMSLLDGDPWLALSGELSPSSEEPPITHAPQPAASSQNGPRKKNPRPPKQTKSTRAPVLTNGAPHQERLRLVSGPHGCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRELGCGGALAAPGGARFGPGEGPVWMDDVGCGGGEEALRDCPRSPWGRSNCDHTEDAGLVCTGPAPRIRLADGPHGCAGRLEVWHGGRWGSVCDDAWDLRDAAVACKELGCGGALAAPGGAFFGEGTGPIILDDLRCRGNETALRFCPARPWGQHDCHHREDAGAVCDGMPLGAVQPTVPAVDSNSTAHRLLSTSVGQMPGPAGPWPPSASPTAPPEPGPEAGSPQLRLVAGPSRCSGRLEVWHDGRWGTVCDDSWDMRDSAVVCRELGCGRPRQPDPAAGRFGWGAGPIWLDDVGCMGTEASLSECPAASWGKHNCAHNEDVGVTCTGTPGLDTISDPFSWSWLPGLGRDQDAWLPGELTTKPSASLTSSVPQKPTKVPGKAPKSTKKWVTKNARRPTTQPPGMPTTKHSRAPGTPTSLHPTARTSELPKRLTTEAPHRQTSHTTVRLTPRVPWEWTSEPVVSQSTQGPQEVTSEATTTENPQTSLEPSGENTEGSLESSQDPATTPTAGVPVPSGPFRVRLADGPNRCAGRLEVWHAGLWGTVCDDSWDIRDATVACWELGCGKVRPRVGKTHYGPGTGPIWLDDMGCKGSEMSLSDCPSGAWGKHNCDHEEDVVLTCTGYTGDDDYPSWTWDPTSGEDLTKGTTVAARPGHTLSWATTTNTEVPSPATQNLPDTDDQGGYESSWTWDTPSGRGLFKGTPTTTKPGSTVTTSTSKSPGHPFPAPRARAGSPRKPTPERRPLPTSATTSSPASSSSPEPSGSRQTSGSWPQLIPDSKQEGTSSSPKPSLLTPGLPSPATFALSTPNTSLLPTRSPELSGSPTPTSPEGLTSASSMLSEVSRLSPTSELTPGPDTTPAPEIIPESSDSSDLPMNTRTPTQPFTASHPTSIPQLNTTSYPTIAPQPTTNPQQPRSPHPATSPQPPTNTHPSSTPATPTESLPSSRKTELSSPTKPRLNSELTFEEAPSTDASQTQNLELFLASESGPSSPSPASNLDPLPTDAFKPPRSQTLHSASDHLTQGPTPNHNPDPFGPCVSPLPPVRVMACEPPALVELVGAVREVGDQLQRLTWVLEQDRQERQVLALGLAQLVEAAQGLGQLSETVKRLAEVAWPPSTPVPMTTTTEEEERPLRGDV" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/776875/", "id": "776875", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/77555", "id": "77555", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "D3ZPK4-1", "protein_name": "Scavenger receptor cysteine-rich family member with 5 domains.", "sequence": { "length": 1436, "sequence": "MRVLACLLAMLVGIQAIERLRLADGPHGCAGRLEVWYSGRWGTVCDDGWDLRDAAVACRVLGCGGALAAPGGAFFGEGTGPVWLSELACRGSEGQLGICPHRGWKAHICSHEEDAGVVCVGQRAANSREDSVSLLDGDPWLALSGELSPSSEEPPITHAPQPAASSQNGPRKKNPRPPKQVKSTRAPVLTNGAPRQERLRLVSGPHGCAGRLEVWHGGRWGTVCDDGWDLRDAAVACRELGCGGALAAPGGARFGPGEGPVWMDDVGCGGGEEALRDCPRSPWGRSNCDHTEDAGLVCTGPAPRLRLADGPHGCAGRLEVWHGGRWGSVCDDAWDLRDAAVACRELGCGGALAAPGGAFFGEGAGPIILDDLRCRGNETALRFCPARPWGQHDCHHREDAGAVCDGMPLGGDVQPTAPAVDSNRTTPRLQSTSVGHTPGPAGSWPPPASPTAPPEPGPEAGSPQLRLVAGPSRCSGRLEVWHDGRWGTVCDDSWDMRDSAVVCRELGCGGPRQPDPAAGRFGWGAGPIWLDDVGCVGTEASLSECPAASWGKHNCAHNEDVGVTCTGTPGLDTISDPFSWSWLPGLGRDQDAWLPGELATKPSASLTSSVLQKTTKAPGKVPKSTKKWVTKNAKRPTTQPPGIPITKRPRVPGTPTSLSPTPRTSELPKRLTAEAPRRQTSHTTERLTPRVPWEWTSETAASLSTQGPQEVTSEATTAQTPQTSLEPFGENPEGSLESSQDPAATPTAGVPVPSGPFRVRLADGPNRCAGRLEVWHAGLWGTVCDDSWDLRDATVACWELGCGKVRPRVGKTHYGPGTGPIWLDDMGCKGSETSLSDCPSGTWGKHNCDHEEDVVLTCTGYTGDDDYPSWTWDPTSEEDLTKRTTVATQPGHTPSWATTTNPEVLSPATQSLPDIDDQGSYELSWTWDTPSGRSLSKGTPTTTKPGSTVTTSTRKSPGHPFPAPRARANTGLPRKPKPERRTLQPTSARTTHTTSSPASYTSPEPSGSQQTSGSWPQLFPDLASKQEGTSTPPKTSPLTPGLPSPTNFALSTTDASLLPTRPPELSGSPTSNSPEGLTSDSPMLLEVSSLSPTSELTPGSDMTPDLGTAPKIIPESSESSDLPTSPSTHTQPFTASYPTSIPHPTTIPHPTTTPHPRAPSHPTTIPQLNTTSYPTMALQPTTNPQHPGSPHPTTSPQPPTNTHSSSTSATPTKSLPSSPETEFSSPTPQPRVKPSLHPDLTFVGVPPTGKSQMQNLEFSLASESGPSRPSPAPSMDPLSTEVFKPPRSQTLHSVSEPMVTADLAISSMAHPSDQPPPDRLAQGPTSNHNPGPFGPCVSSVPPVRVMACEPPALVELVAAVREVGDQLQRLTRVLEQDRQERQVLGLGLVKLVEAAQGLGQLSETVKRLAEVAWPPSTPVPTTTTTEEEERPLRGDV" }, "evidence": [ { "url": "https://omabrowser.org/oma/group/776875/", "id": "776875", "database": "OMA" }, { "url": "http://www.informatics.jax.org/homology/77555", "id": "77555", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138422.1", "ac": "NP_001138422.1", "name": "soluble scavenger receptor cysteine-rich domain-containing protein SSC5D isoform 1 precursor; soluble scavenger with 5 domains; soluble scavenger receptor cysteine-rich domain-containing protein SSC5D; scavenger receptor cysteine-rich glycoprotein; soluble scavenger protein with 5 SRCR domains; scavenger receptor cysteine rich domain containing (5 domains); scavenger receptor cysteine rich family, 5 domains.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005044", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "scavenger receptor activity", "id": "GO:0005044" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043236", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "laminin binding", "id": "GO:0043236" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050840", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "extracellular matrix binding", "id": "GO:0050840" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001968", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "fibronectin binding", "id": "GO:0001968" } ], "total": 4, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "extracellular space", "id": "GO:0005615" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "cytoplasm", "id": "GO:0005737" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "membrane", "id": "GO:0016020" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0062023", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "collagen-containing extracellular matrix", "id": "GO:0062023" } ], "total": 4, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042494", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "detection of bacterial lipoprotein", "id": "GO:0042494" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007275", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "multicellular organism development", "id": "GO:0007275" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045087", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "innate immune response", "id": "GO:0045087" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050829", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "defense response to Gram-negative bacterium", "id": "GO:0050829" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050830", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "defense response to Gram-positive bacterium", "id": "GO:0050830" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:2000483", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "id": "A1L4H1", "database": "UniProtKB" } ], "name": "negative regulation of interleukin-8 secretion", "id": "GO:2000483" } ], "total": 6, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 170, "annotation": "n_glycosylation_sequon", "start_pos": 168 }, { "end_pos": 378, "annotation": "n_glycosylation_sequon", "start_pos": 376 }, { "end_pos": 422, "annotation": "n_glycosylation_sequon", "start_pos": 420 }, { "end_pos": 423, "annotation": "n_glycosylation_sequon", "start_pos": 421 }, { "end_pos": 1421, "annotation": "n_glycosylation_sequon", "start_pos": 1419 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001138422.1", "id": "NP_001138422.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=26641", "id": "26641", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A1L4H1", "id": "A1L4H1", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A1L4H1", "id": "NX_A1L4H1", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SSC5D", "id": "SSC5D", "database": "GeneCards" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3000471", "id": "R-HSA-3000471", "database": "Reactome" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:284297", "id": "hsa:284297", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000179954", "id": "ENSG00000179954", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/WTWDTPS/", "id": "WTWDTPS", "database": "OMA" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001190", "id": "IPR001190", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR017448", "id": "IPR017448", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036772", "id": "IPR036772", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF00530", "id": "PF00530", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A1L4H1", "id": "PR_A1L4H1", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A1L4H1*", "id": "A1L4H1", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/284297", "id": "284297", "database": "GeneID" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1L4H1", "id": "A1L4H1", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1L4H1", "id": "A1L4H1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1L4H1", "id": "A1L4H1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1L4H1", "id": "A1L4H1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1L4H1", "id": "A1L4H1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1L4H1", "id": "A1L4H1", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A1L4H1", "id": "A1L4H1", "database": "BioXpress" } ] } ], "uniprot_ac": "A1L4H1", "disease": [], "mass": { "monoisotopic_mass": 165743.0, "chemical_mass": 165743.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000473", "uberon": "0000473", "name": "Testis" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002369", "uberon": "0002369", "name": "Adrenal gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000992", "uberon": "0000992", "name": "Ovary" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000996", "uberon": "0000996", "name": "Vagina" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001155", "uberon": "0001155", "name": "Colon" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001987", "uberon": "0001987", "name": "Placenta" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000955", "uberon": "0000955", "name": "Brain" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001160", "uberon": "0001160", "name": "Fundus of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001150", "uberon": "0001150", "name": "Body of pancreas" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002048", "uberon": "0002048", "name": "Lung" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000007", "uberon": "0000007", "name": "Pituitary gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002107", "uberon": "0002107", "name": "Liver" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002046", "uberon": "0002046", "name": "Thyroid gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000178", "uberon": "0000178", "name": "Blood" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001043", "uberon": "0001043", "name": "Esophagus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0002367", "uberon": "0002367", "name": "Prostate gland" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001161", "uberon": "0001161", "name": "Body of stomach" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0001255", "uberon": "0001255", "name": "Urinary bladder" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=R-HSA-3000471", "id": "R-HSA-3000471", "database": "Bgee" } ] } ], "gene": [ { "url": "https://www.uniprot.org/uniprot/A1L4H1", "name": "SSC5D; S5D-SRCRB.", "locus": { "end_pos": 55519098, "start_pos": 55488404, "chromosome": "19", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000179954", "id": "ENSG00000179954", "database": "Ensembl Gene" } ] } } ] }