Version 5.4
Homo sapiens Protein: IGSF1
Summary
InnateDB Protein IDBP-86343.7
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol IGSF1
Protein Name immunoglobulin superfamily, member 1
Synonyms CHTE; IGCD1; IGDC1; INHBP; p120; PGSF2;
Species Homo sapiens
Ensembl Protein ENSP00000359937
InnateDB Gene IDBG-86329 (IGSF1)
Protein Structure
UniProt Annotation
Function 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 (By similarity). Necessary to mediate a specific antagonistic effect of inhibin B on activin-stimulated transcription. {ECO:0000250, ECO:0000269PubMed:11266516}.
Subcellular Localization Isoform 1: Membrane {ECO:0000305}; Multi- pass membrane protein {ECO:0000305}.Isoform 2: Membrane {ECO:0000305}; Multi- pass membrane protein {ECO:0000305}.Isoform 3: Secreted {ECO:0000305}.
Disease Associations Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888]: A disorder characterized by insufficient thyroid gland stimulation by thyroid stimulating hormone (TSH), resulting from hypothalamic and/or pituitary dysfunction. CHTE patients have delayed testosterone increase at puberty with normal testosterone levels in adulthood, normal testicular volume in childhood and enlarged testicles in adulthood. {ECO:0000269PubMed:23143598}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Highly expressed in pancreas, testis and fetal liver. Moderately expressed in heart, prostate and small intestine. Expressed at very low levels in brain, thymus, ovary, colon, fetal lung and fetal kidney. Expressed in muscle. Isoform 3 is expressed in pituitary gland. {ECO:0000269PubMed:11854097, ECO:0000269PubMed:23143598, ECO:0000269PubMed:9521868}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
Experimentally validated
Total 13 [view]
Protein-Protein 13 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004872 receptor activity
GO:0005515 protein binding
GO:0034711 inhibin binding
Biological Process
GO:0006355 regulation of transcription, DNA-templated
GO:0007165 signal transduction
Cellular Component
GO:0005576 extracellular region
GO:0016020 membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR003599 Immunoglobulin subtype
IPR007110 Immunoglobulin-like domain
PFAM
PRINTS
PIRSF
SMART SM00409
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8N6C5
PhosphoSite PhosphoSite-Q8N6C5
TrEMBL
UniProt Splice Variant
Entrez Gene 3547
UniGene Hs.675945
RefSeq NP_001164434
HUGO HGNC:5948
OMIM 300137
CCDS CCDS14630
HPRD 02138
IMGT
EMBL AB002362 AB058894 AF034198 AK226008 AL135784 AL137369 AL590806 Y10523
GenPept AAC52057 BAA20819 BAB40235 CAA71535 CAB70713

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca