Property Summary

NCBI Gene PubMed Count 20
PubMed Score 35.84
PubTator Score 25.25

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Testicular Diseases 4
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0
Disease Target Count Z-score Confidence
Congenital hypothyroidism 20 0.0 4.0
Disease Target Count Z-score Confidence
Hypothyroidism 89 4.93 2.5

Expression

  Differential Expression (4)

Disease log2 FC p
posterior fossa group A ependymoma 3.600 1.5e-13
sonic hedgehog group medulloblastoma -1.800 5.9e-04
Breast cancer -1.300 3.4e-04
pituitary cancer -3.400 2.0e-03

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.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15772651 2005 The DNA sequence of the human X chromosome.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12421765 2002 Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs.
12385827 2002 Properties of inhibin binding to betaglycan, InhBP/p120 and the activin type II receptors.
11854097 2002 Expression profile of active genes in the human pituitary gland.
11344214 2001 Insulin-like growth factor (IGF)-binding protein-3 (IGFBP-3) binds to fibronectin (FN): demonstration of IGF-I/IGFBP-3/fn ternary complexes in human plasma.
11266516 2001 Modulation of activin signal transduction by inhibin B and inhibin-binding protein (INhBP).
11076863 2000 DNA cloning using in vitro site-specific recombination.
9729118 1998 Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25.
9521868 1998 Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25.
9205841 1997 Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.