IGSF1
entrez
3547
canonical
uniprot
Q8N6C5
canonical
ensembl
ENSG00000147255
resolver
ensp
ENSP00000355010
resolver
ensp
ENSP00000359937
resolver
ensp
ENSP00000359938
resolver
ensp
ENSP00000359940
resolver
ensp
ENSP00000359947
resolver
ensp
ENSP00000498789
resolver
ensp
ENSP00000534115
resolver
ensp
ENSP00000636777
resolver
genesymbol
IGSF1
resolver
genesymbol_syn
IGDC1
resolver
genesymbol_syn
KIAA0364
resolver
genesymbol_syn
PGSF2
resolver
hgnc
HGNC:5948
resolver
uniprot
B5MEG2
resolver
uniprot
H9KV64
resolver
uniprot
O15070
resolver
uniprot
Q9NTC8
resolver
uniprot_entry
IGSF1_HUMAN
resolver
uniprot_sec
B5MEG2
resolver
uniprot_sec
H9KV64
resolver
uniprot_sec
O15070
resolver
uniprot_sec
Q9NTC8
resolver
amino_acid_sequence
MTLDRPGEGATMLKTFTVLLFCIRMSLGMTSIVMDPQPELWIESNYPQAPWENITLWCRSPSRISSKFLLLKDKTQMTWIRPSHKTFQVSFLIGALTESNAGLYRCCYWKETGWSKPSKVLELEAPGQLPKPIFWIQAETPALPGCNVNILCHGWLQDLVFMLFKEGYAEPVDYQVPTGTMAIFSIDNLTPEDEGVYICRTHIQMLPTLWSEPSNPLKLVVAGLYPKPTLTAHPGPIMAPGESLNLRCQGPIYGMTFALMRVEDLEKSFYHKKTIKNEANFFFQSLKIQDTGHYLCFYYDASYRGSLLSDVLKIWVTDTFPKTWLLARPSAVVQMGQNVSLRCRGPVDGVGLALYKKGEDKPLQFLDATSIDDNTSFFLNNVTYSDTGIYSCHYLLTWKTSIRMPSHNTVELMVVDKPPKPSLSAWPSTVFKLGKAITLQCRVSHPVLEFSLEWEERETFQKFSVNGDFIISNVDGKGTGTYSCSYRVETHPNIWSHRSEPLKLMGPAGYLTWNYVLNEAIRLSLIMQLVALLLVVLWIRWKCRRLRIREAWLLGTAQGVTMLFIVTALLCCGLCNGVLIEETEIVMPTPKPELWAETNFPLAPWKNLTLWCRSPSGSTKEFVLLKDGTGWIATRPASEQVRAAFPLGALTQSHTGSYHCHSWEEMAVSEPSEALELVGTDILPKPVISASPTIRGQELQLRCKGWLAGMGFALYKEGEQEPVQQLGAVGREAFFTIQRMEDKDEGNYSCRTHTEKRPFKWSEPSEPLELVIKEMYPKPFFKTWASPVVTPGARVTFNCSTPHQHMSFILYKDGSEIASSDRSWASPGASAAHFLIISVGIGDGGNYSCRYYDFSIWSEPSDPVELVVTEFYPKPTLLAQPGPVVFPGKSVILRCQGTFQGMRFALLQEGAHVPLQFRSVSGNSADFLLHTVGAEDSGNYSCIYYETTMSNRGSYLSMPLMIWVTDTFPKPWLFAEPSSVVPMGQNVTLWCRGPVHGVGYILHKEGEATSMQLWGSTSNDGAFPITNISGTSMGRYSCCYHPDWTSSIKIQPSNTLELLVTGLLPKPSLLAQPGPMVAPGENMTLQCQGELPDSTFVLLKEGAQEPLEQQRPSGYRADFWMPAVRGEDSGIYSCVYYLDSTPFAASNHSDSLEIWVTDKPPKPSLSAWPSTMFKLGKDITLQCRGPLPGVEFVLEHDGEEAPQQFSEDGDFVINNVEGKGIGNYSCSYRLQAYPDIWSEPSDPLELVGAAGPVAQECTVGNIVRSSLIVVVVVALGVVLAIEWKKWPRLRTRGSETDGRDQTIALEECNQEGEPGTPANSPSSTSQRISVELPVPI
uniprot
proteins
disease_involvement
DISEASE: 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:0000269|PubMed:23143598}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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:0000269|PubMed:11266516}.
uniprot
proteins
mass_dalton
148936
uniprot
proteins
pubmed
11266516
uniprot
proteins
pubmed
11854097
uniprot
proteins
pubmed
12385827
uniprot
proteins
pubmed
12421765
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23092983
uniprot
proteins
pubmed
23143598
uniprot
proteins
pubmed
9205841
uniprot
proteins
pubmed
9521868
uniprot
proteins
pubmed
9729118
uniprot
proteins
sequence_length
1336
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 2]: Membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000305}.; SUBCELLULAR LOCATION: [Isoform 3]: Secreted {ECO:0000305}.
uniprot
proteins
transmembrane_region
TRANSMEM 519..539; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 560..580; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins