• Gene id: 3547

Gene Summary

• Gene Symbol: IGSF1   Gene   UCSC   Ensembl
• Aliases: CHTE, IGCD1, IGDC1, INHBP, PGSF2, p120
• Gene name: immunoglobulin superfamily member 1
• Alternate names: immunoglobulin superfamily member 1, immunoglobulin-like domain-containing protein 1, inhibin-binding protein, pituitary gland-specific factor 2,
• Gene location: Xq26.1 (131289456: 131273505)     Exons: 22     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the immunoglobulin-like domain-containing superfamily. Proteins in this superfamily contain varying numbers of immunoglobulin-like domains and are thought to participate in the regulation of interactions between cells. Multip
• OMIM: 300137

Protein Summary

• Protein general information: Q8N6C5  
  • Name: Immunoglobulin superfamily member 1 (IgSF1) (Immunoglobulin like domain containing protein 1) (Inhibin binding protein) (InhBP) (Pituitary gland specific factor 2) (p120)
  • Length: 1336  
  • Mass: 148,936
• Sequence:

  MTLDRPGEGATMLKTFTVLLFCIRMSLGMTSIVMDPQPELWIESNYPQAPWENITLWCRSPSRISSKFLLLKDKT
  QMTWIRPSHKTFQVSFLIGALTESNAGLYRCCYWKETGWSKPSKVLELEAPGQLPKPIFWIQAETPALPGCNVNI
  LCHGWLQDLVFMLFKEGYAEPVDYQVPTGTMAIFSIDNLTPEDEGVYICRTHIQMLPTLWSEPSNPLKLVVAGLY
  PKPTLTAHPGPIMAPGESLNLRCQGPIYGMTFALMRVEDLEKSFYHKKTIKNEANFFFQSLKIQDTGHYLCFYYD
  ASYRGSLLSDVLKIWVTDTFPKTWLLARPSAVVQMGQNVSLRCRGPVDGVGLALYKKGEDKPLQFLDATSIDDNT
  SFFLNNVTYSDTGIYSCHYLLTWKTSIRMPSHNTVELMVVDKPPKPSLSAWPSTVFKLGKAITLQCRVSHPVLEF
  SLEWEERETFQKFSVNGDFIISNVDGKGTGTYSCSYRVETHPNIWSHRSEPLKLMGPAGYLTWNYVLNEAIRLSL
  IMQLVALLLVVLWIRWKCRRLRIREAWLLGTAQGVTMLFIVTALLCCGLCNGVLIEETEIVMPTPKPELWAETNF
  PLAPWKNLTLWCRSPSGSTKEFVLLKDGTGWIATRPASEQVRAAFPLGALTQSHTGSYHCHSWEEMAVSEPSEAL
  ELVGTDILPKPVISASPTIRGQELQLRCKGWLAGMGFALYKEGEQEPVQQLGAVGREAFFTIQRMEDKDEGNYSC
  RTHTEKRPFKWSEPSEPLELVIKEMYPKPFFKTWASPVVTPGARVTFNCSTPHQHMSFILYKDGSEIASSDRSWA
  SPGASAAHFLIISVGIGDGGNYSCRYYDFSIWSEPSDPVELVVTEFYPKPTLLAQPGPVVFPGKSVILRCQGTFQ
  GMRFALLQEGAHVPLQFRSVSGNSADFLLHTVGAEDSGNYSCIYYETTMSNRGSYLSMPLMIWVTDTFPKPWLFA
  EPSSVVPMGQNVTLWCRGPVHGVGYILHKEGEATSMQLWGSTSNDGAFPITNISGTSMGRYSCCYHPDWTSSIKI
  QPSNTLELLVTGLLPKPSLLAQPGPMVAPGENMTLQCQGELPDSTFVLLKEGAQEPLEQQRPSGYRADFWMPAVR
  GEDSGIYSCVYYLDSTPFAASNHSDSLEIWVTDKPPKPSLSAWPSTMFKLGKDITLQCRGPLPGVEFVLEHDGEE
  APQQFSEDGDFVINNVEGKGIGNYSCSYRLQAYPDIWSEPSDPLELVGAAGPVAQECTVGNIVRSSLIVVVVVAL
  GVVLAIEWKKWPRLRTRGSETDGRDQTIALEECNQEGEPGTPANSPSSTSQRISVELPVPI

• Structural information:
  • Protein Domains: Ig-like (38-122)
    Ig-like (137-222)
    Ig-like (226-312)
    Ig-like (321-408)
    Ig-like (419-500)
    Ig-like (589-677)
    Ig-like (686-760)
    (777-)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR003599  IPR003598   IPR013151  
  • Prosite: PS50835
  • STRING: ENSP00000359940
• Other Databases: GeneCards:  IGSF1  Malacards:  IGSF1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004872	receptor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0007165	signal transduction	IDA	biological process
GO:0015026	coreceptor activity	IEA	molecular function
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034711	inhibin binding	IDA	molecular function
GO:0004872	receptor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0007165	signal transduction	IDA	biological process
GO:0015026	coreceptor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0034711	inhibin binding	IDA	molecular function
GO:0004872	receptor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0007165	signal transduction	IDA	biological process
GO:0016020	membrane	IDA	cellular component
GO:0034711	inhibin binding	IDA	molecular function

Diseases

Associated diseases	References
Familial delayed puberty	MIK: 25354429
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Familial delayed puberty	MIK: 25354429

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25354429	Familial delayed puberty			30 patients with an apparent X-linked form of constitutional delay of growth and puberty (CDGP)	Male infertility
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881