{ "uniprot_canonical_ac": "Q7TQA1-1", "uniprot_ac": "Q7TQA1", "uniprot_id": "IGSF1_MOUSE", "mass": { "chemical_mass": 147010.0, "monoisotopic_mass": 147010.0 }, "refseq": { "ac": "NP_808259", "name": "immunoglobulin superfamily member 1 isoform long precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808259" }, "gene_names": [ { "name": "Igsf1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q7TQA1", "id": "Q7TQA1" }, { "name": "5330413N23; 5530402E03; InhBP/p120; mKIAA0364", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808259", "id": "NP_808259" }, { "name": "Igsf1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808259", "id": "NP_808259" }, { "name": "Kiaa0364", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q7TQA1", "id": "Q7TQA1" } ], "protein_names": [ { "name": "Immunoglobulin superfamily member 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q7TQA1" }, { "name": "IgSF1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q7TQA1" }, { "name": "InhBP", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q7TQA1" }, { "name": "Inhibin-binding protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q7TQA1" }, { "name": "betaglycan and inhibin binding protein; inhBP; inhibin-binding protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808259", "id": "NP_808259" }, { "name": "immunoglobulin superfamily member 1 isoform long precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808259", "id": "NP_808259" } ], "function": [ { "annotation": "Contrary to earlier predictions, neither the murine nor rat IGSF1-2 is secreted from heterologous or homologous cells. In addition, neither protein associates with the plasma membrane. Rather, IGSF1-2 appears to be retained in the endoplasmic reticulum. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_808259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808259" }, { "database": "PubMed", "id": "28686733", "url": "https://glygen.org/publication/PubMed/28686733" } ] }, { "annotation": "IGSF1 Deficiency Leads to Reduced TSH Production Independent of Alterations in Thyroid Hormone Action in Male Mice.", "evidence": [ { "database": "RefSeq", "id": "NP_808259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808259" }, { "database": "PubMed", "id": "35708735", "url": "https://glygen.org/publication/PubMed/35708735" } ] }, { "annotation": "Igsf1-deficient males exhibit normal serum TSH levels as well as normal numbers of TSH-expressing thyrotropes. However, pituitary expression of the TSH subunit genes and TSH protein content are reduced, as is expression of the receptor for thyrotropin-releasing hormone (TRH", "evidence": [ { "database": "RefSeq", "id": "NP_808259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808259" }, { "database": "PubMed", "id": "28324000", "url": "https://glygen.org/publication/PubMed/28324000" } ] }, { "annotation": "Seems to be a coreceptor in inhibin signaling, but seems not to be a high-affinity inhibin receptor. Antagonizes activin A signaling in the presence or absence of inhibin B. Necessary to mediate a specific antagonistic effect of inhibin B on activin-stimulated transcription (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA1", "url": "https://www.uniprot.org/uniprot/Q7TQA1#function" } ] } ], "disease": [ { "disease_id": "DOID:0111140", "recommended_name": { "id": "DOID:0111140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111140", "name": "IGSF1 deficiency syndrome", "description": "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26." }, "synonyms": [ { "id": "DOID:0111140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111140", "name": "CHTE", "description": "" }, { "id": "DOID:0111140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111140", "name": "central hypothyroidism and testicular enlargement", "description": "" }, { "id": "DOID:0111140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111140", "name": "X-linked central congenital hypothyroidism with late-onset macroorchidism", "description": "" }, { "id": "DOID:0111140", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111140", "name": "X-linked central congenital hypothyroidism with late-onset testicular enlargement", "description": "" }, { "id": "MONDO:0010475", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010475", "name": "X-linked central congenital hypothyroidism with late-onset testicular enlargement", "description": "An X-linked recessive syndrome caused by loss-of-function mutation(s) in IGSF1, encoding immunoglobulin superfamily member 1. This condition can result in central hypothyroidism, macroorchidism, delayed puberty, and variable prolactin deficiency." }, { "id": "MONDO:0010475", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010475", "name": "CHTE", "description": "" }, { "id": "MONDO:0010475", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010475", "name": "IGSF1 deficiency syndrome", "description": "" }, { "id": "MONDO:0010475", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010475", "name": "Immunoglobulin superfamily member 1 deficiency syndrome", "description": "" }, { "id": "MONDO:0010475", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010475", "name": "X-linked central congenital hypothyroidism with late-onset macroorchidism", "description": "" }, { "id": "MONDO:0010475", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010475", "name": "X-linked central congenital hypothyroidism with late-onset testicular enlargement", "description": "" }, { "id": "MONDO:0010475", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010475", "name": "central hypothyroidism and testicular enlargement", "description": "" }, { "id": "MONDO:0010475", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010475", "name": "hypothyroidism Central and testicular enlargement", "description": "" }, { "id": "MONDO:0010475", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010475", "name": "hypothyroidism, central, and testicular enlargement, X-linked recessive", "description": "" }, { "id": "MONDO:0010475", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010475", "name": "hypothyroidism, central, and testicular enlargement", "description": "" }, { "id": "MIM:300888", "resource": "MIM", "url": "https://www.omim.org/entry/300888", "name": "Hypothyroidism, central, and testicular enlargement", "description": "Hypothyroidism, central, and testicular enlargement" } ], "evidence": [ { "id": "0111140", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0111140" } ] } ], "snv": [ { "evidence": [ { "id": "rs3389568922", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3389568922" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 92, "end_pos": 92, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NTG->NTS).", "chr_id": "X", "chr_pos": "48883444", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G92", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q7TQA1", "url": "https://www.uniprot.org/uniprot/Q7TQA1" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Igsf1", "url": "https://www.uniprot.org/uniprot/Q7TQA1", "locus": { "chromosome": "X", "start_pos": 48871413, "end_pos": 48886626, "strand": "+", "evidence": [ { "database": "Ensembl Gene", "id": "ENSMUSG00000031111", "url": "https://www.ensembl.org/id/ENSMUSG00000031111" } ] } } ], "crossref": [ { "id": "ENSMUSG00000031111", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000031111", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "209268", "url": "https://www.ncbi.nlm.nih.gov/gene/209268", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "2381", "url": "https://glyconnect.expasy.org/browser/proteins/2381", "database": "GlyConnect", "categories": [ "Glycan", "Glycoproteomics" ] }, { "id": "GPDB0005999", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0005999", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0006000", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0006000", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "GPDB0006001", "url": "https://acgg.asia/db/gpdb/symbol/GPDB0006001", "database": "GlycoProtDB", "categories": [ "Glycoproteomics" ] }, { "id": "IPR003598", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003598", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR007110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:209268", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:209268", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "2147913", "url": "http://www.informatics.jax.org/marker/MGI:2147913", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "Q7TQA1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQA1", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "GCGHGCW", "url": "https://omabrowser.org/oma/group/GCGHGCW/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5355093at2759", "url": "http://www.orthodb.org/?query=5355093at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11738", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11738", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11738:SF157", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11738:SF157", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF13895", "url": "http://pfam.xfam.org/family/PF13895", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q7TQA1", "url": "http://purl.obolibrary.org/obo/PR_Q7TQA1", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_808259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808259", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q7TQA1", "url": "https://www.uniprot.org/uniprot/Q7TQA1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7TQA1-1", "url": "https://www.uniprot.org/uniprot/Q7TQA1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7TQA1-2", "url": "https://www.uniprot.org/uniprot/Q7TQA1-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7TQA1-3", "url": "https://www.uniprot.org/uniprot/Q7TQA1-3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7TQA1-4", "url": "https://www.uniprot.org/uniprot/Q7TQA1-4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q7TQA1-5", "url": "https://www.uniprot.org/uniprot/Q7TQA1-5", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MMLRTFTLLLLCIWLNPGMTSLAVESQPELWIESNYPQAPWENITLWCKSPSRVSSKFLLLKDNSQMTWIRPPYKTFQVSFFIGALTESNTGLYRCCYWKEKGWSKPSKILELEAPGQLPKPIFWIQAETPPLPGCNVNIFCHGWLQDLVFMLFKEGYTEPVDYQVPTGTMAIFSIDNLAPENEGVYICRTHIQMLPTLWSEPSNPLKLVVAGLYPKPTLTAHPGPILAPGESLSLRCQGPIYGMTFALMRLEDLKKSFYHKKPIKNEAYFYFQDLKIQDTGHYLCFYYDGSYRGSLLSDILKIWVTDTFPKTWLLVQPSPVIQMGQNVSLRCGGLMDGVGLALYKKGEEKPLQFLDASSNTGNNSFFLKNVTYRDAGIYSCHYYLTWKTSIKMATYNTVELMVVAWPSSVFKVGKTITLQCRVSHPVLEFSLEWEERTTFQKFSVDGDFLITDIEGQGTGTYSCSYRIEAHPNTWSHRSKPLKLVGPAGFLTWNSILNEAVRVSLTMQLASLLLLVVWIRWKCRRLRLREAWLLGTAQGVAMLFILMALLCCGLCNGALTEEIEIVMPTPKPELWAETNFPLAPWKNLTLWCRSPSGSTKEFVLLKDGTGWIATRPASEQVRAAFPLGALTHSHTGSYHCHSWEEMAVSEPSEALELVGTDILPKPVISASLPIRGQELQIRCKGWLEGLGFALYKKGEQEPVQQLGAVGREAFFTIQRMEDKDEGNYSCRTHTEMQPFKWSEPSEPLELVIKEMYPKPFFKTWASPVVTPGSRVTFNCSTSHEHMSFILYKDGNEIASSDLAWGNPGGSTAHFLIISVGIGDGGNYSCRYYDFSIWSEPSNPVELVVTEFYPKPTLLAQPGPVVLPGKNVTLRCQGIFQGMRFALLQEGTHTPLQFQSTSGTSADFLLHTVGAQDFGNYSCVYYETTMSNRGSSLSTPLMIWVTDTFPRPWLSAEPSSVVTMGQNVTLWCQGPVRGVGYILHKEGEATSMQLWGSTSNEGAFPIINISGASIGRYSCCYHPDWMSPIKIQPSNTLELIVTGLLPKPSLLVQPGPMVAPGENVTLQCQGELPDSTFVLLKEGTRQPLEQQRPSGYRADFWMPVVRDQDSGVYSCVYYLDSAPLVASNHSNSLEIWVTDKPPKPSLSAWPSTIFKLGKDITLQCRGPLPGVEFVLEHDGEEAPQQFSEDGDFVIDNLEGKGIGNYSCSYRLQAYPDIWSEPSDTLELVGAAGPVAQECTVGNIVRSTLIVVVVVALGIVLAVEWKKWPRLRTRGSETDGRDQTVVLEECNQEGEPGTTTNSPSSASQEVSVELTVPI", "length": 1317, "header": "sp|Q7TQA1-1|IGSF1_MOUSE Isoform 1 of Immunoglobulin superfamily member 1 OS=Mus musculus OX=10090 GN=Igsf1 PE=1 SV=1 CANONICAL=Q7TQA1-1" }, "isoforms": [ { "isoform_ac": "Q7TQA1-1", "url": "", "sequence": { "sequence": "MMLRTFTLLLLCIWLNPGMTSLAVESQPELWIESNYPQAPWENITLWCKSPSRVSSKFLLLKDNSQMTWIRPPYKTFQVSFFIGALTESNTGLYRCCYWKEKGWSKPSKILELEAPGQLPKPIFWIQAETPPLPGCNVNIFCHGWLQDLVFMLFKEGYTEPVDYQVPTGTMAIFSIDNLAPENEGVYICRTHIQMLPTLWSEPSNPLKLVVAGLYPKPTLTAHPGPILAPGESLSLRCQGPIYGMTFALMRLEDLKKSFYHKKPIKNEAYFYFQDLKIQDTGHYLCFYYDGSYRGSLLSDILKIWVTDTFPKTWLLVQPSPVIQMGQNVSLRCGGLMDGVGLALYKKGEEKPLQFLDASSNTGNNSFFLKNVTYRDAGIYSCHYYLTWKTSIKMATYNTVELMVVAWPSSVFKVGKTITLQCRVSHPVLEFSLEWEERTTFQKFSVDGDFLITDIEGQGTGTYSCSYRIEAHPNTWSHRSKPLKLVGPAGFLTWNSILNEAVRVSLTMQLASLLLLVVWIRWKCRRLRLREAWLLGTAQGVAMLFILMALLCCGLCNGALTEEIEIVMPTPKPELWAETNFPLAPWKNLTLWCRSPSGSTKEFVLLKDGTGWIATRPASEQVRAAFPLGALTHSHTGSYHCHSWEEMAVSEPSEALELVGTDILPKPVISASLPIRGQELQIRCKGWLEGLGFALYKKGEQEPVQQLGAVGREAFFTIQRMEDKDEGNYSCRTHTEMQPFKWSEPSEPLELVIKEMYPKPFFKTWASPVVTPGSRVTFNCSTSHEHMSFILYKDGNEIASSDLAWGNPGGSTAHFLIISVGIGDGGNYSCRYYDFSIWSEPSNPVELVVTEFYPKPTLLAQPGPVVLPGKNVTLRCQGIFQGMRFALLQEGTHTPLQFQSTSGTSADFLLHTVGAQDFGNYSCVYYETTMSNRGSSLSTPLMIWVTDTFPRPWLSAEPSSVVTMGQNVTLWCQGPVRGVGYILHKEGEATSMQLWGSTSNEGAFPIINISGASIGRYSCCYHPDWMSPIKIQPSNTLELIVTGLLPKPSLLVQPGPMVAPGENVTLQCQGELPDSTFVLLKEGTRQPLEQQRPSGYRADFWMPVVRDQDSGVYSCVYYLDSAPLVASNHSNSLEIWVTDKPPKPSLSAWPSTIFKLGKDITLQCRGPLPGVEFVLEHDGEEAPQQFSEDGDFVIDNLEGKGIGNYSCSYRLQAYPDIWSEPSDTLELVGAAGPVAQECTVGNIVRSTLIVVVVVALGIVLAVEWKKWPRLRTRGSETDGRDQTVVLEECNQEGEPGTTTNSPSSASQEVSVELTVPI", "length": 1317, "header": "sp|Q7TQA1-1|IGSF1_MOUSE Isoform 1 of Immunoglobulin superfamily member 1 OS=Mus musculus OX=10090 GN=Igsf1 PE=1 SV=1 CANONICAL=Q7TQA1-1" }, "locus": { "chromosome": "X", "start_pos": 48884195, "end_pos": 48871697, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000033442", "url": "https://www.ensembl.org/id/ENSMUST00000033442" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000033442", "url": "https://www.ensembl.org/id/ENSMUSP00000033442" } ] } }, { "isoform_ac": "Q7TQA1-2", "url": "", "sequence": { "sequence": "MMLRTFTLLLLCIWLNPGMTSLAVESQPELWIESNYPQAPWENITLWCKSPSRVSSKFLLLKDNSQMTWIRPPYKTFQVSFFIGALTESNTGLYRCCYWKEKGWSKPSKILELEAPGQLPKPIFWIQAETPPLPGCNVNIFCHGWLQDLVFMLFKEGYTEPVDYQVPTGTMAIFSIDNLAPENEGVYICRTHIQMLPTLWSEPSNPLKLVVAGLYPKPTLTAHPGPILAPGESLSLRCQGPIYGMTFALMRLEDLKKSFYHKKPIKNEAYFYFQDLKIQDTGHYLCFYYDGSYRGSLLSDILKIWVTDTFPKTWLLVQPSPVIQMGQNVSLRCGGLMDGVGLALYKKGEEKPLQFLDASSNTGNNSFFLKNVTYRDAGIYSCHYYLTWKTSIKMATYNTVELMVVAWPSSVFKVGKTITLQCRVSHPVLEFSLEWEERTTFQKFSVDGDFLITDIEGQGTGTYSCSYRIEAHPNTWSHRSKPLKLVGPAGFLTWNSILNEAVRVSLTMQLASLLLLVVWIRWKCRRLRLREAWLLGTAQGVAMLFILMALLCCGLCNGALTEEIEIVMPTPKPELWAETNFPLAPWKNLTLWCRSPSGSTKEFVLLKDGTGWIATRPASEQVRAAFPLGALTHSHTGSYHCHSWEEMAVSEPSEALELVGTDILPKPVISASLPIRGQELQIRCKGWLEGLGFALYKKGEQEPVQQLGAVGREAFFTIQRMEDKDEGNYSCRTHTEMQPFKWSEPSEPLELVIKEMYPKPFFKTWASPVVTPGSRVTFNCSTSHEHMSFILYKDGNEIASSDLAWGNPGGSTAHFLIISVGIGDGGNYSCRYYDFSIWSEPSNPVELVVTEFYPKPTLLAQPGPGKDITLQCRGPLPGVEFVLEHDGEEAPQQFSEDGDFVIDNLEGKGIGNYSCSYRLQAYPDIWSEPSDTLELVGAAGPVAQECTVGNIVRSTLIVVVVVALGIVLAVEWKKWPRLRTRGSETDGRDQTVVLEECNQEGEPGTTTNSPSSASQEVSVELTVPI", "length": 1025, "header": "sp|Q7TQA1-2|IGSF1_MOUSE Isoform 2 of Immunoglobulin superfamily member 1 OS=Mus musculus OX=10090 GN=Igsf1 PE=1 SV=1 CANONICAL=Q7TQA1-1" }, "locus": {} }, { "isoform_ac": "Q7TQA1-3", "url": "", "sequence": { "sequence": "MMLRTFTLLLLCIWLNPGMTSLAVESQPELWIESNYPQAPWENITLWCKSPSRVSSKFLLLKDNSQMTWIRPPYKTFQVSFFIGALTESNTGLYRCCYWKEKGWSKPSKILELEAPGQLPKPIFWIQAETPPLPGCNVNIFCHGWLQDLVFMLFKEGYTEPVDYQVPTGTMAIFSIDNLAPENEGVYICRTHIQMLPTLWSEPSNPLKLVVAGLYPKPTLTAHPGPILAPGESLSLRCQGPIYGMTFALMRLEDLKKSFYHKKPIKNEAYFYFQDLKIQDTGHYLCFYYDGSYRGSLLSDILKIWVTDTFPKTWLLVQPSPVIQMGQNVSLRCGGLMDGVGLALYKKGEEKPLQFLDASSNTGNNSFFLKNVTYRDAGIYSCHYYLTWKTSIKMATYNTVELMVVAWPSSVFKVGKTITLQCRVSHPVLEFSLEWEERTTFQKFSVDGDFLITDIEGQGTGTYSCSYRIEAHPNTWSHRSKPLKLVGPAGFLTWNSILNEAVRVSLTMQLASLLLLVVWIRWKCRRLRLREAWLLGTAQGVAMLFILMALLCCGLCNGALTEEIEIVMPTPKPELWAETNFPLAPWKNLTLWCRSPSGSTKEFVLLKDGTGWIATRPASEQVRAAFPLGALTHSHTGSYHCHSWEEMAVSEPSEALELVGTDILPKPVISASLPIRGQELQIRCKGWLEGLGFALYKKGEQEPVQQLGAVGREAFFTIQRMEDKDEGNYSCRTHTEMQPFKWSEPSEPLELVIKDGRTKAQN", "length": 762, "header": "sp|Q7TQA1-3|IGSF1_MOUSE Isoform 3 of Immunoglobulin superfamily member 1 OS=Mus musculus OX=10090 GN=Igsf1 PE=1 SV=1 CANONICAL=Q7TQA1-1" }, "locus": { "chromosome": "X", "start_pos": 48884195, "end_pos": 48875407, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000072037", "url": "https://www.ensembl.org/id/ENSMUST00000072037" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000071919", "url": "https://www.ensembl.org/id/ENSMUSP00000071919" } ] } }, { "isoform_ac": "Q7TQA1-4", "url": "", "sequence": { "sequence": "MMLRTFTLLLLCIWLNPGMTSLAVESQPELWIESNYPQAPWENITLWCKSPSRVSSKFLLLKDNSQMTWIRPPYKTFQVSFFIGALTESNTGLYRCCYWKEKGWSKPSKILELEAPGQLPKPIFWIQAETPPLPGCNVNIFCHGWLQDLVFMLFKEGYTEPVDYQVPTGTMAIFSIDNLAPENEGVYICRTHIQMLPTLWSEPSNPLKLVVAGGCGHGCWHLTIVIPGIMAG", "length": 232, "header": "sp|Q7TQA1-4|IGSF1_MOUSE Isoform 4 of Immunoglobulin superfamily member 1 OS=Mus musculus OX=10090 GN=Igsf1 PE=1 SV=1 CANONICAL=Q7TQA1-1" }, "locus": { "chromosome": "X", "start_pos": 48884195, "end_pos": 48882722, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000114891", "url": "https://www.ensembl.org/id/ENSMUST00000114891" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000110541", "url": "https://www.ensembl.org/id/ENSMUSP00000110541" } ] } }, { "isoform_ac": "Q7TQA1-5", "url": "", "sequence": { "sequence": "MLFILMALLCCGLCNGALTEEIEIVMPTPKPELWAETNFPLAPWKNLTLWCRSPSGSTKEFVLLKDGTGWIATRPASEQVRAAFPLGALTHSHTGSYHCHSWEEMAVSEPSEALELVGTDILPKPVISASLPIRGQELQIRCKGWLEGLGFALYKKGEQEPVQQLGAVGREAFFTIQRMEDKDEGNYSCRTHTEMQPFKWSEPSEPLELVIKEMYPKPFFKTWASPVVTPGSRVTFNCSTSHEHMSFILYKDGNEIASSDLAWGNPGGSTAHFLIISVGIGDGGNYSCRYYDFSIWSEPSNPVELVVTEFYPKPTLLAQPGPVVLPGKNVTLRCQGIFQGMRFALLQEGTHTPLQFQSTSGTSADFLLHTVGAQDFGNYSCVYYETTMSNRGSSLSTPLMIWVTDTFPRPWLSAEPSSVVTMGQNVTLWCQGPVRGVGYILHKEGEATSMQLWGSTSNEGAFPIINISGASIGRYSCCYHPDWMSPIKIQPSNTLELIVTGLLPKPSLLVQPGPMVAPGENVTLQCQGELPDSTFVLLKEGTRQPLEQQRPSGYRADFWMPVVRDQDSGVYSCVYYLDSAPLVASNHSNSLEIWVTDKPPKPSLSAWPSTIFKLGKDITLQCRGPLPGVEFVLEHDGEEAPQQFSEDGDFVIDNLEGKGIGNYSCSYRLQAYPDIWSEPSDTLELVGAAGPVAQECTVGNIVRSTLIVVVVVALGIVLAVEWKKWPRLRTRGSETDGRDQTVVLEECNQEGEPGTTTNSPSSASQEVSVELTVPI", "length": 775, "header": "sp|Q7TQA1-5|IGSF1_MOUSE Isoform 5 of Immunoglobulin superfamily member 1 OS=Mus musculus OX=10090 GN=Igsf1 PE=1 SV=1 CANONICAL=Q7TQA1-1" }, "locus": { "chromosome": "X", "start_pos": 48877058, "end_pos": 48871697, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000114893", "url": "https://www.ensembl.org/id/ENSMUST00000114893" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000110543", "url": "https://www.ensembl.org/id/ENSMUSP00000110543" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1063, "start_aa": "Asn", "end_pos": 1063, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1063", "evidence": [ { "id": "Q7TQA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TQA1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 328, "start_aa": "Asn", "end_pos": 328, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn328", "evidence": [ { "id": "Q7TQA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TQA1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 371, "start_aa": "Asn", "end_pos": 371, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn371", "evidence": [ { "id": "Q7TQA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TQA1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 43, "start_aa": "Asn", "end_pos": 43, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn43", "evidence": [ { "id": "Q7TQA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TQA1#ptm_processing" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 728, "start_aa": "Asn", "end_pos": 728, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn728", "evidence": [ { "id": "2381", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2381" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 779, "start_aa": "Asn", "end_pos": 779, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn779", "evidence": [ { "id": "2381", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2381" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 871, "start_aa": "Asn", "end_pos": 871, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn871", "evidence": [ { "id": "2381", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2381" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 871, "start_aa": "Asn", "end_pos": 871, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn871", "evidence": [ { "id": "Q7TQA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TQA1#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 967, "start_aa": "Asn", "end_pos": 967, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn967", "evidence": [ { "id": "Q7TQA1", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q7TQA1#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "Q7TQA1", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQA1" }, { "id": "33300544", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/33300544" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Normal reproductive function in InhBP/p120-deficient mice.", "journal": "Mol. Cell. Biol.", "date": "2003", "authors": "Woodruff T.K., Burns K.H., Matzuk M.M., Bernard D.J., Haupt B.", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA1", "url": "https://www.uniprot.org/uniprot/Q7TQA1" } ], "reference": [ { "type": "PubMed", "id": "12832474", "url": "https://glygen.org/publication/PubMed/12832474" } ] }, { "title": "Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.", "journal": "Nat. Genet.", "date": "2012", "authors": "Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, Voshol P, Cambridge E, White JK, le Tissier P, Gharavy SN, Martinez-Barbera JP, Stokvis-Brantsma WH, Vulsma T, Kempers MJ, Persani L, Campi I, Bonomi M, Beck-Peccoz P, Zhu H, Davis TM, Hokken-Koelega AC, Del Blanco DG, Rangasami JJ, Ruivenkamp CA, Laros JF, Kriek M, Kant SG, Bosch CA, Biermasz NR, Appelman-Dijkstra NM, Corssmit EP, Hovens GC, Pereira AM, den Dunnen JT, Wade MG, Breuning MH, Hennekam RC, Chatterjee K, Dattani MT, Wit JM, Bernard DJ", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA1", "url": "https://www.uniprot.org/uniprot/Q7TQA1" } ], "reference": [ { "type": "PubMed", "id": "23143598", "url": "https://glygen.org/publication/PubMed/23143598" } ] }, { "title": "TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice.", "journal": "Endocrinology", "date": "2017", "authors": "Turgeon MO, Silander TL, Doycheva D, Liao XH, Rigden M, Ongaro L, Zhou X, Joustra SD, Wit JM, Wade MG, Heuer H, Refetoff S, Bernard DJ", "evidence": [ { "database": "RefSeq", "id": "NP_808259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808259" } ], "reference": [ { "type": "PubMed", "id": "28324000", "url": "https://glygen.org/publication/PubMed/28324000" } ] }, { "title": "The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein.", "journal": "PloS one", "date": "2017", "authors": "Wang Y, Brule E, Silander T, Bak B, Joustra SD, Bernard DJ", "evidence": [ { "database": "RefSeq", "id": "NP_808259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808259" } ], "reference": [ { "type": "PubMed", "id": "28686733", "url": "https://glygen.org/publication/PubMed/28686733" } ] }, { "title": "Capturing site-specific heterogeneity with large-scale N-glycoproteome analysis.", "journal": "Nature communications", "date": "2019", "authors": "Riley NM, Hebert AS, Westphall MS, Coon JJ", "evidence": [ { "database": "GlyConnect", "id": "2381", "url": "https://glyconnect.expasy.org/browser/proteins/2381" } ], "reference": [ { "type": "PubMed", "id": "30899004", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "title": "O-GlcNAcylation regulates dopamine neuron function, survival and degeneration in Parkinson disease.", "journal": "Brain : a journal of neurology", "date": "2020", "authors": "Lee BE, Kim HY, Kim HJ, Jeong H, Kim BG, Lee HE, Lee J, Kim HB, Lee SE, Yang YR, Yi EC, Hanover JA, Myung K, Suh PG, Kwon T, Kim JI", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q7TQA1", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q7TQA1" } ], "reference": [ { "type": "PubMed", "id": "33300544", "url": "https://glygen.org/publication/PubMed/33300544" } ] }, { "title": "IGSF1 Deficiency Leads to Reduced TSH Production Independent of Alterations in Thyroid Hormone Action in Male Mice.", "journal": "Endocrinology", "date": "2022", "authors": "Brule E, Silander TL, Wang Y, Zhou X, Bak B, Groeneweg S, Bernard DJ", "evidence": [ { "database": "RefSeq", "id": "NP_808259", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_808259" } ], "reference": [ { "type": "PubMed", "id": "35708735", "url": "https://glygen.org/publication/PubMed/35708735" } ] } ], "pathway": [ { "id": "mmu:209268", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:209268", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "Q8N6C5-1", "protein_name": "Immunoglobulin superfamily member 1", "gene_name": "IGSF1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MTLDRPGEGATMLKTFTVLLFCIRMSLGMTSIVMDPQPELWIESNYPQAPWENITLWCRSPSRISSKFLLLKDKTQMTWIRPSHKTFQVSFLIGALTESNAGLYRCCYWKETGWSKPSKVLELEAPGQLPKPIFWIQAETPALPGCNVNILCHGWLQDLVFMLFKEGYAEPVDYQVPTGTMAIFSIDNLTPEDEGVYICRTHIQMLPTLWSEPSNPLKLVVAGLYPKPTLTAHPGPIMAPGESLNLRCQGPIYGMTFALMRVEDLEKSFYHKKTIKNEANFFFQSLKIQDTGHYLCFYYDASYRGSLLSDVLKIWVTDTFPKTWLLARPSAVVQMGQNVSLRCRGPVDGVGLALYKKGEDKPLQFLDATSIDDNTSFFLNNVTYSDTGIYSCHYLLTWKTSIRMPSHNTVELMVVDKPPKPSLSAWPSTVFKLGKAITLQCRVSHPVLEFSLEWEERETFQKFSVNGDFIISNVDGKGTGTYSCSYRVETHPNIWSHRSEPLKLMGPAGYLTWNYVLNEAIRLSLIMQLVALLLVVLWIRWKCRRLRIREAWLLGTAQGVTMLFIVTALLCCGLCNGVLIEETEIVMPTPKPELWAETNFPLAPWKNLTLWCRSPSGSTKEFVLLKDGTGWIATRPASEQVRAAFPLGALTQSHTGSYHCHSWEEMAVSEPSEALELVGTDILPKPVISASPTIRGQELQLRCKGWLAGMGFALYKEGEQEPVQQLGAVGREAFFTIQRMEDKDEGNYSCRTHTEKRPFKWSEPSEPLELVIKEMYPKPFFKTWASPVVTPGARVTFNCSTPHQHMSFILYKDGSEIASSDRSWASPGASAAHFLIISVGIGDGGNYSCRYYDFSIWSEPSDPVELVVTEFYPKPTLLAQPGPVVFPGKSVILRCQGTFQGMRFALLQEGAHVPLQFRSVSGNSADFLLHTVGAEDSGNYSCIYYETTMSNRGSYLSMPLMIWVTDTFPKPWLFAEPSSVVPMGQNVTLWCRGPVHGVGYILHKEGEATSMQLWGSTSNDGAFPITNISGTSMGRYSCCYHPDWTSSIKIQPSNTLELLVTGLLPKPSLLAQPGPMVAPGENMTLQCQGELPDSTFVLLKEGAQEPLEQQRPSGYRADFWMPAVRGEDSGIYSCVYYLDSTPFAASNHSDSLEIWVTDKPPKPSLSAWPSTMFKLGKDITLQCRGPLPGVEFVLEHDGEEAPQQFSEDGDFVINNVEGKGIGNYSCSYRLQAYPDIWSEPSDPLELVGAAGPVAQECTVGNIVRSSLIVVVVVALGVVLAIEWKKWPRLRTRGSETDGRDQTIALEECNQEGEPGTPANSPSSTSQRISVELPVPI", "length": 1336 }, "evidence": [ { "id": "45237440", "url": "http://www.informatics.jax.org/homology/45237440", "database": "MGI" }, { "id": "Q7TQA1", "url": "https://omabrowser.org/oma/group/Q7TQA1/", "database": "OMA" } ], "common_name": "Human" }, { "uniprot_canonical_ac": "Q925N6-1", "protein_name": "Immunoglobulin superfamily member 1", "gene_name": "Igsf1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MMLRTFTLLLLCIWLNRGMTSMAAVESQPELWIESNYPQAPWENITLWCKSPSRVSSKFLLLKDNTQMTWIHPPYKTFQVSFFIGALTESNTGLYRCCYWNEKGWSKPSKILELEAPGQLPKPIFWIQAETPPFPGCNVNILCHGWLQDLVFMLFKEGYTEPIDYQVPTGTMAIFSIDNLAPENEGIYICRTHIQMLPTLWSEPSNPLKLVVAGLYPKPTLTAHPGPILAPGESLSLRCQGPIYGMTFALMRLEDLKKPYYYKKPIKNEAYFYFQALKTQDTGHYLCFYYDGSYRGSLLSDILKIWVTDTFPKTWLLVQPSPVIQMGQNVSLRCGGLMDGVGLALHKKGEEKPLQFLDATSNTGNNSFFLKNVTYRDAGIYSCHYYLTWKTSIKMATYNTVELIVVAWPSSVFKVGKTITLQCRVSHPVLEFSLEWEETTTFQKFSVDGDFIITNIEGQGTGTYSCSYRIESHANIWSHRSEPLKLVGPAVTGFLPWNSILNEAIRVSLTVQFLSLLLLVLWLQWKCRRLRLREAWLLGTAQGVAMLVILIALLCCGLCNGALTEEIEIIMPTPKPELWAETNFPQAPWKNVTLWCRSPSGSTKEFVLLKDGTGWIATRPASEQVRAAFPLGALTQSHTGSYHCHSWEEMAVSEPSEALELVGTDILPKPVISASLPIRGQELQIRCKGWLEGLGFALYKMGEQEPVQQLGAVGREAFFTIQRMEDKEEGNYSCRTHTEKQPFKWSEPSAPLELVIKELYPKPFFKTWASPVVTPGSRVTFNCSTSREHMSFILYKDGNEIASSDPVWGNPGTSTAHFLIISVGIGDGGNYSCRYYDFSIWSEPSDPVELIVTEFYPKPTLLAQPGPVVLPGKNVTLRCQGIFQGMRFALLQEGAHAPLQFQSASGTSVDFLLHTVGAEDFGNYSCVYYETTMSNRGSYLSTPLMIWVTDTFPRPWLSAEPSSVVTMGQNVTLWCQGPVHGVGYILHKEGEATSMQLWDSTSNEGAFPIINISGASIGRYSCCYHPDWMSPIKIQPSNTLELIVTGLLPKPSLLVQPGPMVVPGENMTFQCQGELPDSTFVLLKEGTQQPIEQQRPSGYRADFWMPVVRDQDSGVYSCVYYLDSAPLVASNHSNSLEIWVTDKPPKPSLSAWPSTVFKLGKDITLQCRGPLPGVEFVLEHDGEEAPQQFSEDGDFVIGNMEGKGIGNYSCSYRLQAYPDIWSEPSDSLELVGAAGPVAQECTVGNIVRSTLIVVVVVALGIVLAIEWKKWPRLRTRGSETDGRDQTIVLEECNQDGEPGTATNSPSSALQGVSVEQTVPI", "length": 1320 }, "evidence": [ { "id": "45237440", "url": "http://www.informatics.jax.org/homology/45237440", "database": "MGI" } ], "common_name": "Rat" } ], "go_annotation": { "categories": [ { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "activin receptor antagonist activity", "id": "GO:0038102", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038102", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA1", "url": "https://www.uniprot.org/uniprot/Q7TQA1" } ], "pmid": "" }, { "name": "coreceptor activity", "id": "GO:0015026", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0015026", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA1", "url": "https://www.uniprot.org/uniprot/Q7TQA1" } ], "pmid": "" }, { "name": "inhibin binding", "id": "GO:0034711", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034711", "evidence": [ { "database": "UniProtKB", "id": "Q7TQA1", "url": "https://www.uniprot.org/uniprot/Q7TQA1" } ], "pmid": "" } ] }, { "name": "Cellular Component", 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