{ "uniprot_canonical_ac": "Q69YQ0-1", "uniprot_ac": "Q69YQ0", "uniprot_id": "CYTSA_HUMAN", "mass": { "chemical_mass": 124544.0, "monoisotopic_mass": 124544.0 }, "refseq": { "ac": "NP_001241661", "name": "cytospin-A isoform 2", "summary": "This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" }, "gene_names": [ { "name": "SPECC1L", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q69YQ0", "id": "Q69YQ0" }, { "name": "CYTSA; GBBB2; OBLFC1; TBHS; TBHS1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661", "id": "NP_001241661" }, { "name": "CYTSA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q69YQ0", "id": "Q69YQ0" }, { "name": "KIAA0376", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q69YQ0", "id": "Q69YQ0" }, { "name": "SPECC1L", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661", "id": "NP_001241661" } ], "protein_names": [ { "name": "Cytospin-A", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q69YQ0" }, { "name": "Renal carcinoma antigen NY-REN-22", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q69YQ0" }, { "name": "SPECC1-like protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q69YQ0" }, { "name": "Sperm antigen with calponin homology and coiled-coil domains 1-like", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q69YQ0" }, { "name": "cytokinesis and spindle organization A; renal carcinoma antigen NY-REN-22; cytospin-A; SPECC1-like protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661", "id": "NP_001241661" }, { "name": "cytospin-A isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661", "id": "NP_001241661" } ], "function": [ { "annotation": "BCL6-SPECC1L: A Novel Fusion Gene in Nasopharyngeal Carcinoma.", "evidence": [ { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" }, { "database": "PubMed", "id": "36412101", "url": "https://glygen.org/publication/PubMed/36412101" } ] }, { "annotation": "Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration.", "evidence": [ { "database": "UniProtKB", "id": "A0A494C1J1", "url": "https://www.uniprot.org/uniprot/A0A494C1J1#function" }, { "database": "UniProtKB", "id": "RU367063", "url": "https://www.uniprot.org/uniprot/RU367063#function" }, { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0#function" }, { "database": "PubMed", "id": "21703590", "url": "https://glygen.org/publication/PubMed/21703590" }, { "database": "UniProtKB", "id": "C9J8U1", "url": "https://www.uniprot.org/uniprot/C9J8U1#function" } ] }, { "annotation": "Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" }, { "database": "PubMed", "id": "33144287", "url": "https://glygen.org/publication/PubMed/33144287" } ] }, { "annotation": "SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" }, { "database": "PubMed", "id": "35205294", "url": "https://glygen.org/publication/PubMed/35205294" } ] }, { "annotation": "SPECC1L binds the myosin phosphatase complex MYPT1/PP1beta and can regulate its distribution between microtubules and filamentous actin.", "evidence": [ { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" }, { "database": "PubMed", "id": "36634848", "url": "https://glygen.org/publication/PubMed/36634848" } ] }, { "annotation": "SPECC1L functions in actin-cytoskeleton reorganization and is required for proper facial morphogenesis.", "evidence": [ { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" }, { "database": "PubMed", "id": "21703590", "url": "https://glygen.org/publication/PubMed/21703590" } ] }, { "annotation": "SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics.", "evidence": [ { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" }, { "database": "PubMed", "id": "37345651", "url": "https://glygen.org/publication/PubMed/37345651" } ] }, { "annotation": "The authors use rapid amplification of cDNA ends, tiling arrays, and deep RNA sequencing to identify chimeric transcripts on human chromosomes 21 and 22. They found that for 492 protein coding genes studied, 85% of these genes had boundaries that extended beyond the current annotated termini.", "evidence": [ { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" }, { "database": "PubMed", "id": "22238572", "url": "https://glygen.org/publication/PubMed/22238572" } ] }, { "annotation": "This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" } ] } ], "disease": [ { "disease_id": "DOID:0080698", "recommended_name": { "id": "DOID:0080698", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080698", "name": "Teebi hypertelorism syndrome 1", "description": "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2." }, "synonyms": [ { "id": "DOID:0080698", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080698", "name": "Opitz GBBB syndrome type II", "description": "" }, { "id": "DOID:0080698", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080698", "name": "SPECC1L-related hypertelorism syndrome", "description": "" }, { "id": "DOID:0080698", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080698", "name": "Teebi hypertelorism syndrome-1", "description": "" }, { "id": "MONDO:0800025", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800025", "name": "Teebi hypertelorism syndrome 1", "description": "A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes." }, { "id": "MONDO:0800025", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800025", "name": "Teebi hypertelorism syndrome", "description": "" }, { "id": "MONDO:0800025", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800025", "name": "Teebi syndrome", "description": "" }, { "id": "MONDO:0800025", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800025", "name": "hypertelorism, Teebi type", "description": "" }, { "id": "MONDO:0800025", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800025", "name": "Brachycephalofrontonasal dysplasia", "description": "" }, { "id": "MONDO:0800025", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800025", "name": "craniofrontonasal dysplasia, Teebi type", "description": "" }, { "id": "MIM:145420", "resource": "MIM", "url": "https://www.omim.org/entry/145420", "name": "Teebi hypertelorism syndrome 1", "description": "Teebi hypertelorism syndrome 1" } ], "evidence": [ { "id": "145420", "database": "MIM", "url": "https://www.omim.org/entry/145420" } ] }, { "disease_id": "DOID:0081073", "recommended_name": { "id": "DOID:0081073", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081073", "name": "Teebi hypertelorism syndrome", "description": "A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features." }, "synonyms": [ { "id": "DOID:0081073", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081073", "name": "Brachycephalofrontonasal dysplasia", "description": "" }, { "id": "MONDO:0800025", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800025", "name": "Teebi hypertelorism syndrome 1", "description": "A rare genetic disease characterized by hypertelorism with facial features that can closely resemble craniofrontonasal dysplasia, such as prominent forehead, widow's peak, heavy and broad eyebrows, long palpebral fissures, ptosis, high and broad nasal bridge, short nose, low-set ears, natal teeth, thin upper lip and a grooved chin, as well as limb (i.e. fifth-finger clinodactyly, pes adductus, mild interdigital webbing), urogenital (i.e. bilateral cryptorchidism and shawl scrotum in males) and umbilical (i.e. hernia/small omphalocele) anomalies and cardiac (i.e. ventricular or atrial septal defect, patent ductus arteriosus) defects. Additional findings such as polycystic kidneys and iridochorioretinal colobomas have also been reported and psychomotor development is normal. The facial features can also resemble Aarskog and Opitz G/BBB syndromes." }, { "id": "MONDO:0800025", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800025", "name": "Teebi hypertelorism syndrome", "description": "" }, { "id": "MONDO:0800025", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800025", "name": "Teebi syndrome", "description": "" }, { "id": "MONDO:0800025", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800025", "name": "hypertelorism, Teebi type", "description": "" }, { "id": "MONDO:0800025", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800025", "name": "Brachycephalofrontonasal dysplasia", "description": "" }, { "id": "MONDO:0800025", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0800025", "name": "craniofrontonasal dysplasia, Teebi type", "description": "" }, { "id": "MIM:145420", "resource": "MIM", "url": "https://www.omim.org/entry/145420", "name": "Teebi hypertelorism syndrome 1", "description": "Teebi hypertelorism syndrome 1" } ], "evidence": [ { "id": "145420", "database": "MIM", "url": "https://www.omim.org/entry/145420" } ] }, { "disease_id": "DOID:0111706", "recommended_name": { "id": "DOID:0111706", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111706", "name": "oblique facial clefting 1", "description": "An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23." }, "synonyms": [ { "id": "DOID:0111706", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111706", "name": "Tessier number 4 facial cleft", "description": "" }, { "id": "MONDO:0010850", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010850", "name": "Tessier number 4 facial cleft", "description": "" }, { "id": "MONDO:0010850", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010850", "name": "facial clefting, oblique, type 1", "description": "" }, { "id": "MONDO:0010850", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010850", "name": "OBLFC1", "description": "" }, { "id": "MONDO:0010850", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010850", "name": "facial clefting, oblique, 1", "description": "" }, { "id": "MONDO:0010850", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010850", "name": "oculomaxillofacial dysplasia with oblique Facial clefts", "description": "" }, { "id": "MIM:600251", "resource": "MIM", "url": "https://www.omim.org/entry/600251", "name": "Facial clefting, oblique, 1", "description": "Facial clefting, oblique, 1" } ], "evidence": [ { "id": "600251", "database": "MIM", "url": "https://www.omim.org/entry/600251" } ] } ], "snv": [ { "evidence": [ { "id": "rs1048759039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1048759039" }, { "id": "rs1048759039", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1048759039#frequency_tab" }, { "id": "23525077", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23525077" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 111, "end_pos": 111, "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (STS->NTS).", "chr_id": "22", "chr_pos": "24321312", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S111", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs200206900", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200206900" }, { "id": "rs200206900", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs200206900#frequency_tab" }, { "id": "rs200206900", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200206900" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 148, "end_pos": 148, "sequence_org": "M", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NDM->NDT).", "chr_id": "22", "chr_pos": "24321606", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "M148", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200330088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200330088" }, { "id": "rs200330088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200330088" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 175, "end_pos": 175, "sequence_org": "I", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQI->NQS).", "chr_id": "22", "chr_pos": "24321504", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I175", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs200330088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200330088" }, { "id": "rs200330088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs200330088" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 175, "end_pos": 175, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NQI->NQT).", "chr_id": "22", "chr_pos": "24321504", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I175", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1601551869", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1601551869" }, { "id": "rs1601551869", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1601551869" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 274, "end_pos": 274, "sequence_org": "L", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NAL->NAS).", "chr_id": "22", "chr_pos": "24321801", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "L274", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1048759039", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1048759039" }, { "id": "rs1048759039", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1048759039#frequency_tab" }, { "id": "23525077", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23525077" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 50, "end_pos": 50, "sequence_org": "S", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SKT->NKT).", "chr_id": "22", "chr_pos": "24321312", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S50", "keywords": [ "ebi", "somatic" ] }, { "evidence": [ { "id": "rs1442239606", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1442239606" }, { "id": "rs1442239606", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1442239606" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 517, "end_pos": 517, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SNT->NNT).", "chr_id": "22", "chr_pos": "24322530", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S517", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746531449", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746531449" }, { "id": "rs746531449", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746531449" }, { "id": "rs746531449", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs746531449" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 597, "end_pos": 597, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HNS->NNS).", "chr_id": "22", "chr_pos": "24322769", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H597", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1382877533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1382877533" }, { "id": "rs1382877533", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1382877533" } ], "glycoeffect": [ 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"id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKGLTLLPRLEYGGVITAQCSFDLPGSSDPLTSTFPITRTTGMCHFAQTKSSDDLLAGMAGGVTVTNGVKGKKSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGQGANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAALEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAHQPTDVESTLLQLQEQNTAIREELNQLKNENRMLKDRLNALGFSLEQRLDNSEKLFGYQSLSPEITPGNQSDGGGTLTSSVEGSAPGSVEDLLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSDDALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEELQATLQELADLQQITQELNSENERLGEEKVILMESLCQQSDKLEHFSRQIEYFRSLLDEHHISYVIDEDVKSGRYMELEQRYMDLAENARFEREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKERSHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELYSIHNSGDKSDIQDLLESVRLDKEKAETLASSLQEDLAHTRNDANRLQDAIAKVEDEYRAFQEEAKKQIEDLNMTLEKLRSDLDEKETERSDMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKKLQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEEIGDLKRRLHEAQEKNEKLTKELEEIKSRKQEEERGRVYNYMNAVERDLAALRQGMGLSRRSSTSSEPTPTVKTLIKSFDSASQVPNPAAAAIPRTPLSPSPMKTPPAAAVSPMQRHSISGPISTSKPLTALSDKRPNYGEIPVQEHLLRTSSASRPASLPRVPAMESAKTLSVSRRSSEEVKRDISAQEGASPASLMAMGTTSPQLSLSSSPTASVTPTTRSRIREERKDPLSALAREYGGSKRNALLKWCQKKTEGYQNIDITNFSSSWNDGLAFCALLHTYLPAHIPYQELNSQDKRRNFMLAFQAAESVGIKSTLDINEMVRTERPDWQNVMLYVTAIYKYFET", "length": 1136, "header": "tr|A0A494C1J1-1|CYTSA_HUMAN Computationally mapped isoform of Cytospin-A OS=Homo sapiens OX=9606 GN=SPECC1L PE=1 SV=1 CANONICAL=Q69YQ0-1" }, "locus": { "chromosome": "22", "start_pos": 24414620, "end_pos": 24302232, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000651059.1", "url": "https://www.ensembl.org/id/ENST00000651059.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000499052.1", "url": "https://www.ensembl.org/id/ENSP00000499052.1" } ] } }, { "isoform_ac": "C9J8U1-1", "url": "", "sequence": { "sequence": "MKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKSSDDLLAGMAGGVTVTNGVKGKKSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGNKESSSTRERLRERTRLNQSKKLPSAGQGANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAALEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAHQPTDVESTLLQLQEQNTAIREELNQLKNENRMLKDRLNALGFSLEQRLDNSEKLFGYQSLSPEITPGNQSDGGGTLTSSVEGSAPGSVEDLLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSDDALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEELQATLQELADLQQITQELNSENERLGEEKVILMESLCQQSDKLEHFSRQIEYFRSLLDEHHISYVIDEDVKSGRYMELEQRYMDLAENARFEREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKERSHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELYSIHNSGDKSDIQDLLESVRLDKEKAETLASSLQEDLAHTRNDANRLQDAIAKVEDEYRAFQEEAKKQIEDLNMTLEKLRSDLDEKETERSDMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKKLQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEEIGDLKRRLHEAQEKNEKL", "length": 788, "header": "tr|C9J8U1-1|CYTSA_HUMAN Computationally mapped isoform of Cytospin-A OS=Homo sapiens OX=9606 GN=SPECC1L PE=1 SV=8 CANONICAL=Q69YQ0-1" }, "locus": { "chromosome": "22", "start_pos": 24330399, "end_pos": 24302232, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000421374.5", "url": "https://www.ensembl.org/id/ENST00000421374.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000405671.1", "url": "https://www.ensembl.org/id/ENSP00000405671.1" } ] } }, { "isoform_ac": "C9JLY8-1", "url": "", "sequence": { "sequence": "MAGGVTVTNGVKGKKSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGNKESSSTRERLRERTRLNQSKKLPSAGQGANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAALEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAHQP", "length": 175, "header": "tr|C9JLY8-1|C9JLY8_HUMAN Computationally mapped isoform of Sperm antigen with calponin homology and coiled-coil domains 1 like OS=Homo sapiens OX=9606 GN=SPECC1L PE=4 SV=1 CANONICAL=Q69YQ0-1" }, "locus": { "chromosome": "22", "start_pos": 24321688, "end_pos": 24313343, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000440893.1", "url": "https://www.ensembl.org/id/ENST00000440893.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000414354.1", "url": "https://www.ensembl.org/id/ENSP00000414354.1" } ] } }, { "isoform_ac": "Q69YQ0-1", "url": "", "sequence": { "sequence": "MKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKSSDDLLAGMAGGVTVTNGVKGKKSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGNKESSSTRERLRERTRLNQSKKLPSAGQGANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAALEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAHQPTDVESTLLQLQEQNTAIREELNQLKNENRMLKDRLNALGFSLEQRLDNSEKLFGYQSLSPEITPGNQSDGGGTLTSSVEGSAPGSVEDLLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSDDALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEELQATLQELADLQQITQELNSENERLGEEKVILMESLCQQSDKLEHFSRQIEYFRSLLDEHHISYVIDEDVKSGRYMELEQRYMDLAENARFEREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKERSHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELYSIHNSGDKSDIQDLLESVRLDKEKAETLASSLQEDLAHTRNDANRLQDAIAKVEDEYRAFQEEAKKQIEDLNMTLEKLRSDLDEKETERSDMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKKLQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEEIGDLKRRLHEAQEKNEKLTKELEEIKSRKQEEERGRVYNYMNAVERDLAALRQGMGLSRRSSTSSEPTPTVKTLIKSFDSASQVPNPAAAAIPRTPLSPSPMKTPPAAAVSPMQRHSISGPISTSKPLTALSDKRPNYGEIPVQEHLLRTSSASRPASLPRVPAMESAKTLSVSRRSSEEVKRDISAQEGASPASLMAMGTTSPQLSLSSSPTASVTPTTRSRIREERKDPLSALAREYGGSKRNALLKWCQKKTEGYQNIDITNFSSSWNDGLAFCALLHTYLPAHIPYQELNSQDKRRNFMLAFQAAESVGIKSTLDINEMVRTERPDWQNVMLYVTAIYKYFET", "length": 1117, "header": "sp|Q69YQ0-1|CYTSA_HUMAN Isoform 1 of Cytospin-A OS=Homo sapiens OX=9606 GN=SPECC1L PE=1 SV=3 CANONICAL=Q69YQ0-1" }, "locus": { "chromosome": "22", "start_pos": 24414620, "end_pos": 24302232, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000314328.14", "url": "https://www.ensembl.org/id/ENST00000314328.14" }, { "database": "Ensembl Peptide", "id": "ENSP00000325785.8", "url": "https://www.ensembl.org/id/ENSP00000325785.8" } ] } }, { "isoform_ac": "Q69YQ0-2", "url": "", "sequence": { "sequence": "MKKASRSVGSVPKVSAISKTQTAEKIKPENSSSASTGGKLVKPGTAASLSKTKSSDDLLAGMAGGVTVTNGVKGKKSTCPSAAPSASAPAMTTVENKSKISTGTASSTKRSTSTGNKESSSTRERLRERTRLNQSKKLPSAGQGANDMALAKRSRSRTATECDVRMSKSKSDNQISDRAALEAKVKDLLTLAKTKDVEILHLRNELRDMRAQLGINEDHSEGDEKSEKETIMAHQPTDVESTLLQLQEQNTAIREELNQLKNENRMLKDRLNALGFSLEQRLDNSEKLFGYQSLSPEITPGNQSDGGGTLTSSVEGSAPGSVEDLLSQDENTLMDHQHSNSMDNLDSECSEVYQPLTSSDDALDAPSSSESEGIPSIERSRKGSSGNASEVSVACLTERIHQMEENQHSTSEELQATLQELADLQQITQELNSENERLGEEKVILMESLCQQSDKLEHFSRQIEYFRSLLDEHHISYVIDEDVKSGRYMELEQRYMDLAENARFEREQLLGVQQHLSNTLKMAEQDNKEAQEMIGALKERSHHMERIIESEQKGKAALAATLEEYKATVASDQIEMNRLKAQLENEKQKVAELYSIHNSGDKSDIQDLLESVRLDKEKAETLASSLQEDLAHTRNDANRLQDAIAKVEDEYRAFQEEAKKQIEDLNMTLEKLRSDLDEKETERSDMKETIFELEDEVEQHRAVKLHDNLIISDLENTVKKLQDQKHDMEREIKTLHRRLREESAEWRQFQADLQTAVVIANDIKSEAQEEIGDLKRRLHEAQEKNEKLTKELEEIKSRKQEEERGRVYNYMNAVERDLAALRQGMGLSRRSSTSSEPTPTVKTLIKSFDSASQVPNPAAAAIPRTPLSPSPMKTPPAAAVSPMQRHSISGPISTSKPLTALSDKRPNYGEIPVQEHLLRTSSASRPASLPRVPAMESAKTLSVSRRSSEEVKRDISAQEGASPASLMAMGTTSPQLSLSSSPTASVTPTTRSRIREERKDPLSALAREYGGSKRNALLKWCQKKTEGYQRRNFMLAFQAAESVGIKSTLDINEMVRTERPDWQNVMLYVTAIYKYFET", "length": 1078, "header": "sp|Q69YQ0-2|CYTSA_HUMAN Isoform 2 of Cytospin-A OS=Homo sapiens OX=9606 GN=SPECC1L PE=1 SV=3 CANONICAL=Q69YQ0-1" }, "locus": { "chromosome": "22", "start_pos": 24414620, "end_pos": 24302232, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000541492.1", "url": "https://www.ensembl.org/id/ENST00000541492.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000439633.1", "url": "https://www.ensembl.org/id/ENSP00000439633.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 277, "start_aa": "Ser", "end_pos": 277, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser277", "evidence": [ { "id": "Q69YQ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69YQ0" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" }, { "id": "Q69YQ0", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q69YQ0" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 937, "start_aa": "Ser", "end_pos": 937, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser937", "evidence": [ { "id": "Q69YQ0", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69YQ0" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" }, { "id": "35254053", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35254053" } ] } ], "phosphorylation": [ { "start_pos": 220, "end_pos": 220, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q69YQ0", "url": "http://phospho.elm.eu.org/byAccession/Q69YQ0.html" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" }, { "database": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ], "site_lbl": "Ser220" }, { "start_pos": 384, "end_pos": 384, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0" }, { "database": "phospho.ELM", "id": "Q69YQ0", "url": "http://phospho.elm.eu.org/byAccession/Q69YQ0.html" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser384" }, { "start_pos": 385, "end_pos": 385, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0" } ], "site_lbl": "Ser385" }, { "start_pos": 389, "end_pos": 389, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0" } ], "site_lbl": "Ser389" }, { "start_pos": 54, "end_pos": 54, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q69YQ0", "url": "http://phospho.elm.eu.org/byAccession/Q69YQ0.html" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser54" }, { "start_pos": 55, "end_pos": 55, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q69YQ0", "url": "http://phospho.elm.eu.org/byAccession/Q69YQ0.html" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser55" }, { "start_pos": 831, "end_pos": 831, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q69YQ0", "url": "http://phospho.elm.eu.org/byAccession/Q69YQ0.html" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser831" }, { "start_pos": 832, "end_pos": 832, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q69YQ0", "url": "http://phospho.elm.eu.org/byAccession/Q69YQ0.html" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser832" }, { "start_pos": 834, "end_pos": 834, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q69YQ0", "url": "http://phospho.elm.eu.org/byAccession/Q69YQ0.html" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser834" }, { "start_pos": 868, "end_pos": 868, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "phospho.ELM", "id": "Q69YQ0", "url": "http://phospho.elm.eu.org/byAccession/Q69YQ0.html" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" } ], "site_lbl": "Ser868" }, { "start_pos": 870, "end_pos": 870, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q69YQ0", "url": "http://phospho.elm.eu.org/byAccession/Q69YQ0.html" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Ser870" }, { "start_pos": 874, "end_pos": 874, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "phospho.ELM", "id": "Q69YQ0", "url": "http://phospho.elm.eu.org/byAccession/Q69YQ0.html" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ], "site_lbl": "Thr874" }, { "start_pos": 881, "end_pos": 881, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0" }, { "database": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" }, { "database": "phospho.ELM", "id": "Q69YQ0", "url": "http://phospho.elm.eu.org/byAccession/Q69YQ0.html" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" } ], "site_lbl": "Ser881" }, { "start_pos": 887, "end_pos": 887, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0" }, { "database": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" } ], "site_lbl": "Ser887" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Antigens recognized by autologous antibody in patients with renal-cell carcinoma.", "journal": "Int. J. Cancer", "date": "1999", "authors": "Scanlan MJ, Gordan JD, Williamson B, Stockert E, Bander NH, Jongeneel V, Gure AO, Jager D, Jager E, Knuth A, Chen YT, Old LJ", "evidence": [ { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0" } ], "reference": [ { "type": "PubMed", "id": "10508479", "url": "https://glygen.org/publication/PubMed/10508479" } ] }, { "title": "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.", "journal": "Cell", "date": "2006", "authors": "Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, Mann M", "evidence": [ { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" } ], "reference": [ { "type": "PubMed", "id": "17081983", "url": "https://glygen.org/publication/PubMed/17081983" } ] }, { "title": "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.", "journal": "Journal of proteome research", "date": "2008", "authors": "Cantin GT, Yi W, Lu B, Park SK, Xu T, Lee JD, Yates JR 3rd", "evidence": [ { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" } ], "reference": [ { "type": "PubMed", "id": "18220336", "url": "https://glygen.org/publication/PubMed/18220336" } ] }, { "title": "A quantitative atlas of mitotic phosphorylation.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2008", "authors": "Dephoure N, Zhou C, Villen J, Beausoleil SA, Bakalarski CE, Elledge SJ, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" } ], "reference": [ { "type": "PubMed", "id": "18669648", "url": "https://glygen.org/publication/PubMed/18669648" } ] }, { "title": "Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting.", "journal": "Am. J. Hum. Genet.", "date": "2011", "authors": "Saadi I, Alkuraya FS, Gisselbrecht SS, Goessling W, Cavallesco R, Turbe-Doan A, Petrin AL, Harris J, Siddiqui U, Grix AW Jr, Hove HD, Leboulch P, Glover TW, Morton CC, Richieri-Costa A, Murray JC, Erickson RP, Maas RL", "evidence": [ { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0" }, { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" } ], "reference": [ { "type": "PubMed", "id": "21703590", "url": "https://glygen.org/publication/PubMed/21703590" } ] }, { "title": "Evidence for transcript networks composed of chimeric RNAs in human cells.", "journal": "PloS one", "date": "2012", "authors": "Djebali S, Lagarde J, Kapranov P, Lacroix V, Borel C, Mudge JM, Howald C, Foissac S, Ucla C, Chrast J, Ribeca P, Martin D, Murray RR, Yang X, Ghamsari L, Lin C, Bell I, Dumais E, Drenkow J, Tress ML, Gelpi JL, Orozco M, Valencia A, van Berkum NL, Lajoie BR, Vidal M, Stamatoyannopoulos J, Batut P, Dobin A, Harrow J, Hubbard T, Dekker J, Frankish A, Salehi-Ashtiani K, Reymond A, Antonarakis SE, Guigo R, Gingeras TR", "evidence": [ { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" } ], "reference": [ { "type": "PubMed", "id": "22238572", "url": "https://glygen.org/publication/PubMed/22238572" } ] }, { "title": "Toward a comprehensive characterization of a human cancer cell phosphoproteome.", "journal": "Journal of proteome research", "date": "2013", "authors": "Zhou H, Di Palma S, Preisinger C, Peng M, Polat AN, Heck AJ, Mohammed S", "evidence": [ { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" } ], "reference": [ { "type": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" } ] }, { "title": "Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.", "journal": "Nature genetics", "date": "2013", "authors": "Dulak AM, Stojanov P, Peng S, Lawrence MS, Fox C, Stewart C, Bandla S, Imamura Y, Schumacher SE, Shefler E, McKenna A, Carter SL, Cibulskis K, Sivachenko A, Saksena G, Voet D, Ramos AH, Auclair D, Thompson K, Sougnez C, Onofrio RC, Guiducci C, Beroukhim R, Zhou Z, Lin L, Lin J, Reddy R, Chang A, Landrenau R, Pennathur A, Ogino S, Luketich JD, Golub TR, Gabriel SB, Lander ES, Beer DG, Godfrey TE, Getz G, Bass AJ", "evidence": [ { "database": "dbSNP", "id": "rs1048759039", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1048759039" } ], "reference": [ { "type": "PubMed", "id": "23525077", "url": "https://glygen.org/publication/PubMed/23525077" } ] }, { "title": "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.", "journal": "Journal of proteomics", "date": "2014", "authors": "Bian Y, Song C, Cheng K, Dong M, Wang F, Huang J, Sun D, Wang L, Ye M, Zou H", "evidence": [ { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0" }, { "database": "iPTMnet", "id": "Q69YQ0", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q69YQ0" } ], "reference": [ { "type": "PubMed", "id": "24275569", "url": "https://glygen.org/publication/PubMed/24275569" } ] }, { "title": "Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome.", "journal": "J. Med. Genet.", "date": "2015", "authors": "Kruszka P, Li D, Harr MH, Wilson NR, Swarr D, McCormick EM, Chiavacci RM, Li M, Martinez AF, Hart RA, McDonald-McGinn DM, Deardorff MA, Falk MJ, Allanson JE, Hudson C, Johnson JP, Saadi I, Hakonarson H, Muenke M, Zackai EH", "evidence": [ { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0" } ], "reference": [ { "type": "PubMed", "id": "25412741", "url": "https://glygen.org/publication/PubMed/25412741" } ] }, { "title": "Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome.", "journal": "Am. J. Med. Genet. A", "date": "2015", "authors": "Bhoj EJ, Li D, Harr MH, Tian L, Wang T, Zhao Y, Qiu H, Kim C, Hoffman JD, Hakonarson H, Zackai EH", "evidence": [ { "database": "UniProtKB", "id": "Q69YQ0", "url": "https://www.uniprot.org/uniprot/Q69YQ0" } ], "reference": [ { "type": "PubMed", "id": "26111080", "url": "https://glygen.org/publication/PubMed/26111080" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q69YQ0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69YQ0" }, { "database": "O-GlcNAc Atlas", "id": "Q69YQ0", "url": "https://oglcnac.org/atlas/detail/Q69YQ0" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors.", "journal": "Cold Spring Harbor molecular case studies", "date": "2020", "authors": "Khuong-Quang DA, Brown LM, Wong M, Mayoh C, Sexton-Oates A, Kumar A, Pinese M, Nagabushan S, Lau L, Ludlow LE, Gifford AJ, Rodriguez M, Desai J, Fox SB, Haber M, Ziegler DS, Hansford JR, Marshall GM, Cowley MJ, Ekert PG", "evidence": [ { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" } ], "reference": [ { "type": "PubMed", "id": "33144287", "url": "https://glygen.org/publication/PubMed/33144287" } ] }, { "title": "SPECC1L Mutations Are Not Common in Sporadic Cases of Opitz G/BBB Syndrome.", "journal": "Genes", "date": "2022", "authors": "Migliore C, Vendramin A, McKee S, Prontera P, Faravelli F, Sachdev R, Dias P, Mascaro M, Licastro D, Meroni G", "evidence": [ { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" } ], "reference": [ { "type": "PubMed", "id": "35205294", "url": "https://glygen.org/publication/PubMed/35205294" } ] }, { "title": "An Optimized Isotopic Photocleavable Tagging Strategy for Site-Specific and Quantitative Profiling of Protein O-GlcNAcylation in Colorectal Cancer Metastasis.", "journal": "ACS chemical biology", "date": "2022", "authors": "Liu J, Hao Y, Wang C, Jin Y, Yang Y, Gu J, Chen X", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q69YQ0", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q69YQ0" } ], "reference": [ { "type": "PubMed", "id": "35254053", "url": "https://glygen.org/publication/PubMed/35254053" } ] }, { "title": "BCL6-SPECC1L: A Novel Fusion Gene in Nasopharyngeal Carcinoma.", "journal": "Technology in cancer research & treatment", "date": "2022", "authors": "Fang Shuo-Gui, Xia Tian-Liang, Fu Jian-Chang, Li Tong, Zhong Qian, Han Fei", "evidence": [ { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" } ], "reference": [ { "type": "PubMed", "id": "36412101", "url": "https://glygen.org/publication/PubMed/36412101" } ] }, { "title": "SPECC1L binds the myosin phosphatase complex MYPT1/PP1\u03b2 and can regulate its distribution between microtubules and filamentous actin.", "journal": "The Journal of biological chemistry", "date": "2023-02", "authors": "Mehta Virja, Decan Nathalie, Ooi Sarah, Gaudreau-Lapierre Antoine, Copeland John W, Trinkle-Mulcahy Laura", "evidence": [ { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" } ], "reference": [ { "type": "PubMed", "id": "36634848", "url": "https://glygen.org/publication/PubMed/36634848" } ] }, { "title": "SPECC1L: a cytoskeletal protein that regulates embryonic tissue dynamics.", "journal": "Biochemical Society transactions", "date": "2023-06-22", "authors": "Saadi Irfan, Goering Jeremy P, Hufft-Martinez Brittany M, Tran Pamela V", "evidence": [ { "database": "RefSeq", "id": "NP_001241661", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001241661" } ], "reference": [ { "type": "PubMed", "id": "37345651", "url": "https://glygen.org/publication/PubMed/37345651" } ] } ], "pathway": [ { "id": "hsa:23384", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23384", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q2KN98-1", "protein_name": "Cytospin-A", "gene_name": "Specc1l", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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