Entity Details

Primary name IGSF1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N6C5
EntryNameIGSF1_HUMAN
FullNameImmunoglobulin superfamily member 1
TaxID9606
Evidenceevidence at protein level
Length1336
SequenceStatuscomplete
DateCreated2008-02-05
DateModified2021-06-02

Ontological Relatives

GenesIGSF1

GO terms

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GOName
GO:0005576 extracellular region
GO:0006355 regulation of transcription, DNA-templated
GO:0015026 coreceptor activity
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0032926 negative regulation of activin receptor signaling pathway
GO:0034711 inhibin binding
GO:0038102 activin receptor antagonist activity

Subcellular Location

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Subcellular Location
Membrane
Secreted

Domains

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DomainNameCategoryType
IPR003598 Immunoglobulin subtype 2DomainDomain
IPR003599 Immunoglobulin subtypeDomainDomain
IPR007110 Immunoglobulin-like domainDomainDomain
IPR013151 ImmunoglobulinDomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR036179 Immunoglobulin-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
300888 OMIMHypothyroidism, central, and testicular enlargement (CHTE)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. The disease is caused by variants affecting the gene represented in this entry.