{ "uniprot_canonical_ac": "A4D0S4-1", "sequence": { "header": "sp|A4D0S4-1|LAMB4_HUMAN Isoform 1 of Laminin subunit beta-4 OS=Homo sapiens OX=9606 GN=LAMB4 PE=2 SV=1 CANONICAL=A4D0S4-1", "length": 1761, "sequence": "MQFQLTLFLHLGWLSYSKAQDDCNRGACHPTTGDLLVGRNTQLMASSTCGLSRAQKYCILSYLEGEQKCFICDSRFPYDPYDQPNSHTIENVIVSFEPDREKKWWQSENGLDHVSIRLDLEALFRFSHLILTFKTFRPAAMLVERSTDYGHNWKVFKYFAKDCATSFPNITSGQAQGVGDIVCDSKYSDIEPSTGGEVVLKVLDPSFEIENPYSPYIQDLVTLTNLRINFTKLHTLGDALLGRRQNDSLDKYYYALYEMIVRGSCFCNGHASECRPMQKMRGDVFSPPGMVHGQCVCQHNTDGPNCERCKDFFQDAPWRPAADLQDNACRSCSCNSHSSRCHFDMTTYLASGGLSGGVCEDCQHNTEGQHCDRCRPLFYRDPLKTISDPYACIPCECDPDGTISGGICVSHSDPALGSVAGQCLCKENVEGAKCDQCKPNHYGLSATDPLGCQPCDCNPLGSLPFLTCDVDTGQCLCLSYVTGAHCEECTVGYWGLGNHLHGCSPCDCDIGGAYSNVCSPKNGQCECRPHVTGRSCSEPAPGYFFAPLNFYLYEAEEATTLQGLAPLGSETFGQSPAVHVVLGEPVPGNPVTWTGPGFARVLPGAGLRFAVNNIPFPVDFTIAIHYETQSAADWTVQIVVNPPGGSEHCIPKTLQSKPQSFALPAATRIMLLPTPICLEPDVQYSIDVYFSQPLQGESHAHSHVLVDSLGLIPQINSLENFCSKQDLDEYQLHNCVEIASAMGPQVLPGACERLIISMSAKLHDGAVACKCHPQGSVGSSCSRLGGQCQCKPLVVGRCCDRCSTGSYDLGHHGCHPCHCHPQGSKDTVCDQVTGQCPCHGEVSGRRCDRCLAGYFGFPSCHPCPCNRFAELCDPETGSCFNCGGFTTGRNCERCIDGYYGNPSSGQPCRPCLCPDDPSSNQYFAHSCYQNLWSSDVICNCLQGYTGTQCGECSTGFYGNPRISGAPCQPCACNNNIDVTDPESCSRVTGECLRCLHNTQGANCQLCKPGHYGSALNQTCRRCSCHASGVSPMECPPGGGACLCDPVTGACPCLPNVTGLACDRCADGYWNLVPGRGCQSCDCDPRTSQSSHCDQLTGQCPCKLGYGGKRCSECQENYYGDPPGRCIPCDCNRAGTQKPICDPDTGMCRCREGVSGQRCDRCARGHSQEFPTCLQCHLCFDQWDHTISSLSKAVQGLMRLAANMEDKRETLPVCEADFKDLRGNVSEIERILKHPVFPSGKFLKVKDYHDSVRRQIMQLNEQLKAVYEFQDLKDTIERAKNEADLLLEDLQEEIDLQSSVLNASIADSSENIKKYYHISSSAEKKINETSSTINTSANTRNDLLTILDTLTSKGNLSLERLKQIKIPDIQILNEKVCGDPGNVPCVPLPCGGALCTGRKGHRKCRGPGCHGSLTLSTNALQKAQEAKSIIRNLDKQVRGLKNQIESISEQAEVSKNNALQLREKLGNIRNQSDSEEENINLFIKKVKNFLLEENVPPEDIEKVANGVLDIHLPIPSQNLTDELVKIQKHMQLCEDYRTDENRLNEEADGAQKLLVKAKAAEKAANILLNLDKTLNQLQQAQITQGRANSTITQLTANITKIKKNVLQAENQTREMKSELELAKQRSGLEDGLSLLQTKLQRHQDHAVNAKVQAESAQHQAGSLEKEFVELKKQYAILQRKTSTTGLTKETLGKVKQLKDAAEKLAGDTEAKIRRITDLERKIQDLNLSRQAKADQLRILEDQVVAIKNEIVEQEKKYARCYS" }, "uniprot_id": "LAMB4_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "laminin subunit beta-4 isoform 1 precursor", "laminin beta-1-related protein" ], "uniprotkb": [ "Laminin subunit beta-4", "Laminin beta-1-related protein" ] }, "gene": { "refseq": [ "LAMB4" ], "uniprotkb": [ "LAMB4" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4", "id": "A4D0S4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "Laminin subunit beta-4; Laminin beta-1-related protein." }, "publication": [ { "title": "Identification of a rare LAMB4 variant associated with familial diverticulitis through exome sequencing.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/28595269", "journal": "Human molecular genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", "id": "NP_001304975.1", "database": "RefSeq" } ], "authors": "Coble JL, Sheldon KE, Yue F, Salameh TJ, Harris LR III, Deiling S, Ruggiero FM, Eshelman MA, Yochum GS, Koltun WA, Gerhard GS, Broach JR", "date": "2017", "pmid": "28595269" }, { "title": "Laminin gene LAMB4 is somatically mutated and expressionally altered in gastric and colorectal cancers.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/25257191", "journal": "APMIS : acta pathologica, microbiologica, et immunologica Scandinavica", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", "id": "NP_001304975.1", "database": "RefSeq" } ], "authors": "Choi MR, An CH, Yoo NJ, Lee SH", "date": "2015", "pmid": "25257191" }, { "title": "Neomorphic effects of recurrent somatic mutations in Yin Yang 1 in insulin-producing adenomas.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/25787250", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4/publications", "id": "A4D0S4", "database": "UniProtKB" } ], "authors": "Akerstroem G., Bjoerklund P., Carling T., Choi M., Cromer M.K., Fonseca A.L., Hellman P., Kenney B., Korah R.M., Kunstman J.W., Lifton R.P., Malchoff C.D., Mane S., Nelson-Williams C., Overton J.D., Stalberg P., Westin G.", "date": "2015", "pmid": "25787250" }, { "title": "Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/21876539", "journal": "Molecular psychiatry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", "id": "NP_001304975.1", "database": "RefSeq" } ], "authors": "Amin N, Byrne E, Johnson J, Chenevix-Trench G, Walter S, Nolte IM, Vink JM, Rawal R, Mangino M, Teumer A, Keers JC, Verwoert G, Baumeister S, Biffar R, Petersmann A, Dahmen N, Doering A, Isaacs A, Broer L, Wray NR, Montgomery GW, Levy D, Psaty BM, Gudnason V, Chakravarti A, Sulem P, Gudbjartsson DF, Kiemeney LA, Thorsteinsdottir U, Stefansson K, van Rooij FJ, Aulchenko YS, Hottenga JJ, Rivadeneira FR, Hofman A, Uitterlinden AG, Hammond CJ, Shin SY, Ikram A, Witteman JC, Janssens AC, Snieder H, Tiemeier H, Wolfenbuttel BH, Oostra BA, Heath AC, Wichmann E, Spector TD, Grabe HJ, Boomsma DI, Martin NG, van Duijn CM", "date": "2012", "pmid": "21876539" }, { "title": "High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/19401682", "journal": "Molecular psychiatry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", "id": "NP_001304975.1", "database": "RefSeq" } ], "authors": "Maestrini E, Pagnamenta AT, Lamb JA, Bacchelli E, Sykes NH, Sousa I, Toma C, Barnby G, Butler H, Winchester L, Scerri TS, Minopoli F, Reichert J, Cai G, Buxbaum JD, Korvatska O, Schellenberg GD, Dawson G, de Bildt A, Minderaa RB, Mulder EJ, Morris AP, Bailey AJ, Monaco AP", "date": "2010", "pmid": "19401682" }, { "title": "A novel locus for autosomal-dominant dilated cardiomyopathy maps to chromosome 7q22.3-31.1.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/16228230", "journal": "Human genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", "id": "NP_001304975.1", "database": "RefSeq" } ], "authors": "Schonberger J, Kuhler L, Martins E, Lindner TH, Silva-Cardoso J, Zimmer M", "date": "2005", "pmid": "16228230" }, { "title": "The complete sequence of the human locus for NgCAM-related cell adhesion molecule reveals a novel alternative exon in chick and man and conserved genomic organization for the L1 subfamily.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/11483367", "journal": "Gene", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", "id": "NP_001304975.1", "database": "RefSeq" } ], "authors": "Dry 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], "relation": "attached", "position": 1333, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4", "id": "A4D0S4", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ], "relation": "attached", "position": 246, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4", "id": "A4D0S4", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ], "relation": "attached", "position": 1055, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4", "id": "A4D0S4", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/", "id": "", "database": "PubMed" } ], "relation": "attached", "position": 1517, "glytoucan_ac": "", "type": "N-linked" }, { "residue": "Asn", 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(1.1%).", "sequence_org": "S", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "I", "subjects_tested": "94", "end_pos": 214, "type": "Point mutation" }, { "start_pos": 723, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", "id": "A4D0S4", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (1/5): patient freq. (1.0%).", "sequence_org": "S", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "C", "subjects_tested": "103", "end_pos": 723, "type": "Point mutation" }, { "start_pos": 281, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", "id": "A4D0S4", "database": "BioMuta" } ], "frequency": "0.4", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs751482652.", "sequence_org": "R", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "Esophageal cancer" }, "sequence_mut": "W", "subjects_tested": "228", "end_pos": 281, "type": "Point mutation" }, { "start_pos": 435, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", "id": "A4D0S4", "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": "G", "subjects_tested": "50", "end_pos": 435, "type": "Point mutation" }, { "start_pos": 281, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", "id": "A4D0S4", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs751482652.", "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": 281, "type": "Point mutation" }, { "start_pos": 1112, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", "id": "A4D0S4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "E", "disease": { "doid": "1612", "url": "http://disease-ontology.org/term/DOID:1612", "icd10": "", "name": "Breast cancer" }, "sequence_mut": "*", "subjects_tested": "50", "end_pos": 1112, "type": "Point mutation" }, { "start_pos": 262, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A4D0S4", "id": "A4D0S4", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs766405251.", "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": 262, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4#A4D0S4-1", "isoform_ac": "A4D0S4-1", "locus": { "end_pos": 108024042, "start_pos": 108123164, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000388781", "id": "ENST00000388781", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000373433", "id": "ENSP00000373433", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4D0S4-1|LAMB4_HUMAN Isoform 1 of Laminin subunit beta-4 OS=Homo sapiens OX=9606 GN=LAMB4 PE=2 SV=1 CANONICAL=A4D0S4-1", "length": 1761, "sequence": "MQFQLTLFLHLGWLSYSKAQDDCNRGACHPTTGDLLVGRNTQLMASSTCGLSRAQKYCILSYLEGEQKCFICDSRFPYDPYDQPNSHTIENVIVSFEPDREKKWWQSENGLDHVSIRLDLEALFRFSHLILTFKTFRPAAMLVERSTDYGHNWKVFKYFAKDCATSFPNITSGQAQGVGDIVCDSKYSDIEPSTGGEVVLKVLDPSFEIENPYSPYIQDLVTLTNLRINFTKLHTLGDALLGRRQNDSLDKYYYALYEMIVRGSCFCNGHASECRPMQKMRGDVFSPPGMVHGQCVCQHNTDGPNCERCKDFFQDAPWRPAADLQDNACRSCSCNSHSSRCHFDMTTYLASGGLSGGVCEDCQHNTEGQHCDRCRPLFYRDPLKTISDPYACIPCECDPDGTISGGICVSHSDPALGSVAGQCLCKENVEGAKCDQCKPNHYGLSATDPLGCQPCDCNPLGSLPFLTCDVDTGQCLCLSYVTGAHCEECTVGYWGLGNHLHGCSPCDCDIGGAYSNVCSPKNGQCECRPHVTGRSCSEPAPGYFFAPLNFYLYEAEEATTLQGLAPLGSETFGQSPAVHVVLGEPVPGNPVTWTGPGFARVLPGAGLRFAVNNIPFPVDFTIAIHYETQSAADWTVQIVVNPPGGSEHCIPKTLQSKPQSFALPAATRIMLLPTPICLEPDVQYSIDVYFSQPLQGESHAHSHVLVDSLGLIPQINSLENFCSKQDLDEYQLHNCVEIASAMGPQVLPGACERLIISMSAKLHDGAVACKCHPQGSVGSSCSRLGGQCQCKPLVVGRCCDRCSTGSYDLGHHGCHPCHCHPQGSKDTVCDQVTGQCPCHGEVSGRRCDRCLAGYFGFPSCHPCPCNRFAELCDPETGSCFNCGGFTTGRNCERCIDGYYGNPSSGQPCRPCLCPDDPSSNQYFAHSCYQNLWSSDVICNCLQGYTGTQCGECSTGFYGNPRISGAPCQPCACNNNIDVTDPESCSRVTGECLRCLHNTQGANCQLCKPGHYGSALNQTCRRCSCHASGVSPMECPPGGGACLCDPVTGACPCLPNVTGLACDRCADGYWNLVPGRGCQSCDCDPRTSQSSHCDQLTGQCPCKLGYGGKRCSECQENYYGDPPGRCIPCDCNRAGTQKPICDPDTGMCRCREGVSGQRCDRCARGHSQEFPTCLQCHLCFDQWDHTISSLSKAVQGLMRLAANMEDKRETLPVCEADFKDLRGNVSEIERILKHPVFPSGKFLKVKDYHDSVRRQIMQLNEQLKAVYEFQDLKDTIERAKNEADLLLEDLQEEIDLQSSVLNASIADSSENIKKYYHISSSAEKKINETSSTINTSANTRNDLLTILDTLTSKGNLSLERLKQIKIPDIQILNEKVCGDPGNVPCVPLPCGGALCTGRKGHRKCRGPGCHGSLTLSTNALQKAQEAKSIIRNLDKQVRGLKNQIESISEQAEVSKNNALQLREKLGNIRNQSDSEEENINLFIKKVKNFLLEENVPPEDIEKVANGVLDIHLPIPSQNLTDELVKIQKHMQLCEDYRTDENRLNEEADGAQKLLVKAKAAEKAANILLNLDKTLNQLQQAQITQGRANSTITQLTANITKIKKNVLQAENQTREMKSELELAKQRSGLEDGLSLLQTKLQRHQDHAVNAKVQAESAQHQAGSLEKEFVELKKQYAILQRKTSTTGLTKETLGKVKQLKDAAEKLAGDTEAKIRRITDLERKIQDLNLSRQAKADQLRILEDQVVAIKNEIVEQEKKYARCYS" } }, { "url": "https://www.uniprot.org/uniprot/A4D0S4#A0A0C4DG90-1", "isoform_ac": "A0A0C4DG90-1", "locus": { "end_pos": 108026893, "start_pos": 108063899, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000422975", "id": "ENST00000422975", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000416562", "id": "ENSP00000416562", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0C4DG90-1|LAMB4_HUMAN Computationally mapped isoform of Laminin subunit beta-4 OS=Homo sapiens OX=9606 GN=LAMB4 PE=2 SV=1 CANONICAL=A4D0S4-1", "length": 749, "sequence": "NIDVTDPESCSRVTGECLRCLHNTQGANCQLCKPGHYGSALNQTCRRCSCHASGVSPMECPPGGGACLCDPVTGACPCLPNVTGLACDRCADGYWNLVPGRGCQSCDCDPRTSQSSHCDQLTGQCPCKLGYGGKRCSECQENYYGDPPGRCIPCDCNRAGTQKPICDPDTGMCRCREGVSGQRCDRCARGHSQEFPTCLQCHLCFDQWDHTISSLSKAVQGLMRLAANMEDKRETLPVCEADFKDLRGNVSEIERILKHPVFPSGKFLKVKDYHDSVRRQIMQLNEQLKAVYEFQDLKDTIERAKNEADLLLEDLQEEIDLQSSVLNASIADSSENIKKYYHISSSAEKKINETSSTINTSANTRNDLLTILDTLTSKGNLSLERLKQIKIPDIQILNEKVCGDPGNVPCVPLPCGGALCTGRKGHRKCRGPGCHGSLTLSTNALQKAQEAKSIIRNLDKQVRGLKNQIESISEQAEVSKNNALQLREKLGNIRNQSDSEEENINLFIKKVKNFLLEENVPPEDIEKVANGVLDIHLPIPSQNLTDELVKIQKHMQLCEDYRTDENRLNEEADGAQKLLVKAKAAEKAANILLNLDKTLNQLQQAQITQGRANSTITQLTANITKIKKNVLQAENQTREMKSELELAKQRSGLEDGLSLLQTKLQRHQDHAVNAKVQAESAQHQAGSLEKEFVELKKQYAILQRKTSTTGLTKETLGKVKQLKDAAEKLAGDTEAKIRRITGCFQNSAR" } }, { "url": "https://www.uniprot.org/uniprot/A4D0S4#A4D0S4-2", "isoform_ac": "A4D0S4-2", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "sequence": { "header": "sp|A4D0S4-2|LAMB4_HUMAN Isoform 2 of Laminin subunit beta-4 OS=Homo sapiens OX=9606 GN=LAMB4 PE=2 SV=1 CANONICAL=A4D0S4-1", "length": 772, "sequence": "MQFQLTLFLHLGWLSYSKAQDDCNRGACHPTTGDLLVGRNTQLMASSTCGLSRAQKYCILSYLEGEQKCFICDSRFPYDPYDQPNSHTIENVIVSFEPDREKKWWQSENGLDHVSIRLDLEALFRFSHLILTFKTFRPAAMLVERSTDYGHNWKVFKYFAKDCATSFPNITSGQAQGVGDIVCDSKYSDIEPSTGGEVVLKVLDPSFEIENPYSPYIQDLVTLTNLRINFTKLHTLGDALLGRRQNDSLDKYYYALYEMIVRGSCFCNGHASECRPMQKMRGDVFSPPGMVHGQCVCQHNTDGPNCERCKDFFQDAPWRPAADLQDNACRSCSCNSHSSRCHFDMTTYLASGGLSGGVCEDCQHNTEGQHCDRCRPLFYRDPLKTISDPYACIPCECDPDGTISGGICVSHSDPALGSVAGQCLCKENVEGAKCDQCKPNHYGLSATDPLGCQPCDCNPLGSLPFLTCDVDTGQCLCLSYVTGAHCEECTVGYWGLGNHLHGCSPCDCDIGGAYSNVCSPKNGQCECRPHVTGRSCSEPAPGYFFAPLNFYLYEAEEATTLQGLAPLGSETFGQSPAVHVVLGEPVPGNPVTWTGPGFARVLPGAGLRFAVNNIPFPVDFTIAIHYETQSAADWTVQIVVNPPGGSEHCIPKTLQSKPQSFALPAATRIMLLPTPICLEPDVQYSIDVYFSQPLQGESHAHSHVLVDSAAVQWHNLGSLQPPPPECKQFSCFSFPSSWDYRHPPPHLASFCIFSRDGVSPHWPGWSRTPDLR" } }, { "url": "https://www.uniprot.org/uniprot/A4D0S4#C9JMJ0-1", "isoform_ac": "C9JMJ0-1", "locus": { "end_pos": 108075741, "start_pos": 108123164, "chromosome": "7", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000418464", "id": "ENST00000418464", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000402353", "id": "ENSP00000402353", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|C9JMJ0-1|LAMB4_HUMAN Computationally mapped isoform of Laminin subunit beta-4 OS=Homo sapiens OX=9606 GN=LAMB4 PE=2 SV=2 CANONICAL=A4D0S4-1", "length": 772, "sequence": "MQFQLTLFLHLGWLSYSKAQDDCNRGACHPTTGDLLVGRNTQLMASSTCGLSRAQKYCILSYLEGEQKCFICDSRFPYDPYDQPNSHTIENVIVSFEPDREKKWWQSENGLDHVSIRLDLEALFRFSHLILTFKTFRPAAMLVERSTDYGHNWKVFKYFAKDCATSFPNITSGQAQGVGDIVCDSKYSDIEPSTGGEVVLKVLDPSFEIENPYSPYIQDLVTLTNLRINFTKLHTLGDALLGRRQNDSLDKYYYALYEMIVRGSCFCNGHASECRPMQKMRGDVFSPPGMVHGQCVCQHNTDGPNCERCKDFFQDAPWRPAADLQDNACRSCSCNSHSSRCHFDMTTYLASGGLSGGVCEDCQHNTEGQHCDRCRPLFYRDPLKTISDPYACIPCECDPDGTISGGICVSHSDPALGSVAGQCLCKENVEGAKCDQCKPNHYGLSATDPLGCQPCDCNPLGSLPFLTCDVDTGQCLCLSYVTGAHCEECTVGYWGLGNHLHGCSPCDCDIGGAYSNVCSPKNGQCECRPHVTGRSCSEPAPGYFFAPLNFYLYEAEEATTLQGLAPLGSETFGQSPAVHVVLGEPVPGNPVTWTGPGFARVLPGAGLRFAVNNIPFPVDFTIAIHYETQSAADWTVQIVVNPPGGSEHCIPKTLQSKPQSFALPAATRIMLLPTPICLEPDVQYSIDVYFSQPLQGESHAHSHVLVDSAAVQWHNLGSLQPPPPECKQFSCFSFPSSWDYRHPPPHLANFCIFSRDGVSPHWPGWSQTPDLR" } }, { "url": "https://www.uniprot.org/uniprot/A4D0S4#A4D0S4-3", "isoform_ac": "A4D0S4-3", "locus": { "end_pos": 0, "start_pos": 0, "chromosome": "", "evidence": [] }, "sequence": { "header": "sp|A4D0S4-3|LAMB4_HUMAN Isoform 3 of Laminin subunit beta-4 OS=Homo sapiens OX=9606 GN=LAMB4 PE=2 SV=1 CANONICAL=A4D0S4-1", "length": 1723, "sequence": "MQFQLTLFLHLGWLSYSKAQDDCNRGACHPTTGDLLVGRNTQLMASSTCGLSRAQKYCILSYLEGEQKCFICDSRFPYDPYDQPNSHTIENVIVSFEPDREKKWWQSENGLDHVSIRLDLEALFRFSHLILTFKTFRPAAMLVERSTDYGHNWKVFKYFAKDCATSFPNITSGQAQGVGDIVCDSKYSDIEPSTGGEVVLKVLDPSFEIENPYSPYIQDLVTLTNLRINFTKLHTLGDALLGRRQNDSLDKYYYALYEMIVRGSCFCNGHASECRPMQKMRGDVFSPPGMVHGQCVCQHNTDGPNCERCKDFFQDAPWRPAADLQDNACRSCSCNSHSSRCHFDMTTYLASGGLSGGVCEDCQHNTEGQHCDRCRPLFYRDPLKTISDPYACIPCECDPDGTISGGICVSHSDPALGSVAGQCLCKENVEGAKCDQCKPNHYGLSATDPLGCQPCDCNPLGSLPFLTCDVDTGQCLCLSYVTGAHCEECTVGYWGLGNHLHGCSPCDCDIGGAYSNVCSPKNGQCECRPHVTGRSCSEPAPGYFFAPLNFYLYEAEEATTLQGLAPLGSETFGQSPAVHVVLGEPVPGNPVTWTGPGFARVLPGAGLRFAVNNIPFPVDFTIAIHYETQSAADWTVQIVVNPPGGSEHCIPKTLQSKPQSFALPAATRIMLLPTPICLEPDVQYSIDVYFSQPLQGESHAHSHVLVDSLGLIPQINSLENFCSKQDLDEYQLHNCVEIASAMGPQVLPGACERLIISMSAKLHDGAVACKCHPQGSVGSSCSRLGGQCQCKPLVVGRCCDRCSTGSYDLGHHGCHPCHCHPQGSKDTVCDQVTGQCPCHGEVSGRRCDRCLAGYFGFPSCHPCPCNRFAELCDPETGSCFNCGGFTTGRNCERCIDGYYGNPSSGQPCRPCLCPDDPSSNQYFAHSCYQNLWSSDVICNCLQGYTGTQCGECSTGFYGNPRISGAPCQPCACNNNIDVTDPESCSRVTGECLRCLHNTQGANCQLCKPGHYGSALNQTCRRCSCHASGVSPMECPPGGGACLCDPVTGACPCLPNVTGLACDRCADGYWNLVPGRGCQSCDCDPRTSQSSHCDQLTGQCPCKLGYGGKRCSECQENYYGDPPGRCIPCDCNRAGTQKPICDPDTGMCRCREGVSGQRCDRCARGHSQEFPTCLQCHLCFDQWDHTISSLSKAVQGLMRLAANMEDKRETLPVCEADFKDLRGNVSEIERILKHPVFPSGKFLKVKDYHDSVRRQIMQLNEQLKAVYEFQDLKDTIERAKNEADLLLEDLQEEIDLQSSVLNASIADSSENIKKYYHISSSAEKKINETSSTINTSANTRNDLLTILDTLTSKGNLSLERLKQIKIPDIQILNEKVCGDPGNVPCVPLPCGGALCTGRKGHRKCRGPGCHGSLTLSTNALQKAQEAKSIIRNLDKQVRGLKNQIESISEQAEVSKNNALQLREKLGNIRNQSDSEEENINLFIKKVKNFLLEENVPPEDIEKVANGVLDIHLPIPSQNLTDELVKIQKHMQLCEDYRTDENRLNEEADGAQKLLVKAKAAEKAANILLNLDKTLNQLQQAQITQGRANSTITQLTANITKIKKNVLQAENQTREMKSELELAKQRSGLEDGLSLLQTKLQRHQDHAVNAKVQAESAQHQAGSLEKEFVELKKQYAILQRKTSTTGLTKETLGKVKQLKDAAEKLAGDTEAKIRRITGCFQNSAR" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:22798", "resource": "KEGG Pathway", "id": "hsa:22798", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4#function", "annotation": "Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4#function", "id": "A4D0S4", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", "annotation": "We identified a rare single nucleotide variant in the laminin beta 4 gene (LAMB4) that segregated with familial diverticulitis in a dominant pattern and causes a damaging missense substitution (D435N). Targeted sequencing of LAMB4 in 148 non-familial and unrelated sporadic diverticulitis patients identified two additional rare variants in the gene.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", "id": "NP_001304975.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", "annotation": "Loss of LAMB4 expression was identified in 17-32% of the GC and CRC. Of note, the loss expression was more common in the cancers with LAMB4 mutation or those with MSI-H.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", "id": "NP_001304975.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", "id": "NP_001304975.1", "database": "RefSeq" } ] } ], "orthologs": [], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", "ac": "NP_001304975.1", "name": "laminin subunit beta-4 isoform 1 precursor; laminin beta-1-related protein.", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005201", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4", "id": "A4D0S4", "database": "UniProtKB" } ], "name": "extracellular matrix structural constituent", "id": "GO:0005201" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043256", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4", "id": "A4D0S4", "database": "UniProtKB" } ], "name": "laminin complex", "id": "GO:0043256" } ], "total": 1, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016477", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4", "id": "A4D0S4", "database": "UniProtKB" } ], "name": "cell migration", "id": "GO:0016477" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4", "id": "A4D0S4", "database": "UniProtKB" } ], "name": "animal organ morphogenesis", "id": "GO:0009887" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034446", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4", "id": "A4D0S4", "database": "UniProtKB" } ], "name": "substrate adhesion-dependent cell spreading", "id": "GO:0034446" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009888", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4", "id": "A4D0S4", "database": "UniProtKB" } ], "name": "tissue development", "id": "GO:0009888" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070831", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4D0S4", "id": "A4D0S4", "database": "UniProtKB" } ], "name": "basement membrane assembly", "id": "GO:0070831" } ], "total": 5, "name": "Biological Process" } ] }, "site_annotation": [ { "end_pos": 171, "annotation": "n_glycosylation_sequon", "start_pos": 169 }, { "end_pos": 231, "annotation": "n_glycosylation_sequon", "start_pos": 229 }, { "end_pos": 248, "annotation": "n_glycosylation_sequon", "start_pos": 246 }, { "end_pos": 1018, "annotation": "n_glycosylation_sequon", "start_pos": 1016 }, { "end_pos": 1057, "annotation": "n_glycosylation_sequon", "start_pos": 1055 }, { "end_pos": 1225, "annotation": "n_glycosylation_sequon", "start_pos": 1223 }, { "end_pos": 1303, "annotation": "n_glycosylation_sequon", "start_pos": 1301 }, { "end_pos": 1328, "annotation": "n_glycosylation_sequon", "start_pos": 1326 }, { "end_pos": 1335, "annotation": "n_glycosylation_sequon", "start_pos": 1333 }, { "end_pos": 1356, "annotation": "n_glycosylation_sequon", "start_pos": 1354 }, { "end_pos": 1471, "annotation": "n_glycosylation_sequon", "start_pos": 1469 }, { "end_pos": 1519, "annotation": "n_glycosylation_sequon", "start_pos": 1517 }, { "end_pos": 1589, "annotation": "n_glycosylation_sequon", "start_pos": 1587 }, { "end_pos": 1598, "annotation": "n_glycosylation_sequon", "start_pos": 1596 }, { "end_pos": 1611, "annotation": "n_glycosylation_sequon", "start_pos": 1609 }, { "end_pos": 1727, "annotation": "n_glycosylation_sequon", "start_pos": 1725 } ], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001304975.1", "id": "NP_001304975.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=6491", "id": "6491", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A4D0S4", "id": "A4D0S4", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A4D0S4", "id": "NX_A4D0S4", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=LAMB4", 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