Property Summary

NCBI Gene PubMed Count 20
Grant Count 7
R01 Count 2
Funding $334,709.87
PubMed Score 35.84
PubTator Score 25.25

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
posterior fossa group A ependymoma 3.600 0.000
sonic hedgehog group medulloblastoma -1.800 0.001
Breast cancer -1.300 0.000
pituitary cancer -3.400 0.002

Gene RIF (7)

PMID Text
26302767 This case suggests that more attention should be paid to intrauterine growth and birth history when patients are suspected of having an IGSF1 mutation
25527509 Immunohistochemistry showed increased IGSF1 staining in the GH-producing tumor from the patient with the IGSF1 p.N604T variant compared with a GH-producing adenoma from a patient negative for any IGSF1 variants and with normal control pituitary tissue.
25354429 There is insufficient evidence to conclude that the three observed VUCSs in IGSF1 are associated with CDGP, making it unlikely that IGSF1 mutations are a prevalent cause of CDGP.
24108313 Data suggest male subjects with IGSF1 deficiency syndrome exhibit X-linked congenital/central hypothyroidism, delayed puberty, macro-orchidism, hypoprolactinemia, metabolic syndrome, and transient partial growth hormone deficiency. [CASE REPORTS]
23966245 Our findings provide additional genetic evidence that loss-of-function mutations in IGSF1 cause an X-linked form of C-CH and variable prolactin deficiency.
23143598 Using exome and candidate gene sequencing, 8 distinct mutations and 2 deletions in IGSF1 were identified in males from 11 unrelated families with central hypothyroidism, testicular enlargement and variably low prolactin concentrations.
18981173 IgSF1 is processed through sequential proteolysis by signal peptidase and signal peptide peptidase

AA Sequence

MTLDRPGEGATMLKTFTVLLFCIRMSLGMTSIVMDPQPELWIESNYPQAPWENITLWCRSPSRISSKFLL      1 - 70
LKDKTQMTWIRPSHKTFQVSFLIGALTESNAGLYRCCYWKETGWSKPSKVLELEAPGQLPKPIFWIQAET     71 - 140
PALPGCNVNILCHGWLQDLVFMLFKEGYAEPVDYQVPTGTMAIFSIDNLTPEDEGVYICRTHIQMLPTLW    141 - 210
SEPSNPLKLVVAGLYPKPTLTAHPGPIMAPGESLNLRCQGPIYGMTFALMRVEDLEKSFYHKKTIKNEAN    211 - 280
FFFQSLKIQDTGHYLCFYYDASYRGSLLSDVLKIWVTDTFPKTWLLARPSAVVQMGQNVSLRCRGPVDGV    281 - 350
GLALYKKGEDKPLQFLDATSIDDNTSFFLNNVTYSDTGIYSCHYLLTWKTSIRMPSHNTVELMVVDKPPK    351 - 420
PSLSAWPSTVFKLGKAITLQCRVSHPVLEFSLEWEERETFQKFSVNGDFIISNVDGKGTGTYSCSYRVET    421 - 490
HPNIWSHRSEPLKLMGPAGYLTWNYVLNEAIRLSLIMQLVALLLVVLWIRWKCRRLRIREAWLLGTAQGV    491 - 560
TMLFIVTALLCCGLCNGVLIEETEIVMPTPKPELWAETNFPLAPWKNLTLWCRSPSGSTKEFVLLKDGTG    561 - 630
WIATRPASEQVRAAFPLGALTQSHTGSYHCHSWEEMAVSEPSEALELVGTDILPKPVISASPTIRGQELQ    631 - 700
LRCKGWLAGMGFALYKEGEQEPVQQLGAVGREAFFTIQRMEDKDEGNYSCRTHTEKRPFKWSEPSEPLEL    701 - 770
VIKEMYPKPFFKTWASPVVTPGARVTFNCSTPHQHMSFILYKDGSEIASSDRSWASPGASAAHFLIISVG    771 - 840
IGDGGNYSCRYYDFSIWSEPSDPVELVVTEFYPKPTLLAQPGPVVFPGKSVILRCQGTFQGMRFALLQEG    841 - 910
AHVPLQFRSVSGNSADFLLHTVGAEDSGNYSCIYYETTMSNRGSYLSMPLMIWVTDTFPKPWLFAEPSSV    911 - 980
VPMGQNVTLWCRGPVHGVGYILHKEGEATSMQLWGSTSNDGAFPITNISGTSMGRYSCCYHPDWTSSIKI    981 - 1050
QPSNTLELLVTGLLPKPSLLAQPGPMVAPGENMTLQCQGELPDSTFVLLKEGAQEPLEQQRPSGYRADFW   1051 - 1120
MPAVRGEDSGIYSCVYYLDSTPFAASNHSDSLEIWVTDKPPKPSLSAWPSTMFKLGKDITLQCRGPLPGV   1121 - 1190
EFVLEHDGEEAPQQFSEDGDFVINNVEGKGIGNYSCSYRLQAYPDIWSEPSDPLELVGAAGPVAQECTVG   1191 - 1260
NIVRSSLIVVVVVALGVVLAIEWKKWPRLRTRGSETDGRDQTIALEECNQEGEPGTPANSPSSTSQRISV   1261 - 1330
ELPVPI                                                                   1331 - 1336
//

Text Mined References (25)

PMID Year Title
26302767 2015 Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1.
25527509 2015 Is IGSF1 involved in human pituitary tumor formation?
25354429 2015 IGSF1 variants in boys with familial delayed puberty.
24108313 2013 The IGSF1 deficiency syndrome: characteristics of male and female patients.
23966245 2013 Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.
23143598 2012 Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
23092983 2012 Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.
21269460 2011 Initial characterization of the human central proteome.
18981173 2008 An internal signal sequence directs intramembrane proteolysis of a cellular immunoglobulin domain protein.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
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