About   Help   FAQ
Igsf1
Gene Detail
Symbol

Name
ID
Igsf1
immunoglobulin superfamily, member 1
MGI:2147913
Feature Type
protein coding gene
Genetic Map
Chromosome X
26.06 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)
Sequence Map
ChrX:49782536-49797749 bp, - strand
From VEGA annotation of GRCm38

  15214 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1195  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 dog; 1 chicken

HCOP human homology predictions: IGSF1
Gene Tree: Igsf1

Human
homologs
IGSF1, immunoglobulin superfamily, member 1
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 3547
neXtProt AC: NX_Q8N6C5

Human Synonyms: CHTE, IGCD1, IGDC1, INHBP, p120, PGSF2

Human Chr (Location): Xq25; chrX:131273506-131289457 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human IGSF1

Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Targeted(2)
Incidental mutations (data from CvDC )
 
Mice homozygous or hemizygous for disruptions of this gene show no obvious phenotypic change.
 
Interactions
Igsf1 interacts with 188 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process regulation of transcription, DNA-templated, signal transduction
Component extracellular region, integral component of membrane, ...
Function coreceptor activity, inhibin binding, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (75)    Tissues (40)    Images (28)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 74
RT-PCR 1
cDNA source data(20)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(21) cDNA(20) Primer pair(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000017798 (Evidence)
Ensembl Gene Model ENSMUSG00000031111 (Evidence)
Entrez Gene 209268 (Evidence)
UniGene 110505
DFCI TC1588473, TC1578393
DoTS DT.94204566, DT.87027880, DT.101734861, DT.527529, DT.111035998
Consensus CDS Project CCDS40964.1, CCDS40965.1, CCDS40966.1, CCDS40967.1
International Mouse Phenotyping Consortium Status Igsf1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017798 VEGA Gene Model | MGI Sequence Detail 15214 C57BL/6J ±  kb
transcript OTTMUST00000043083 VEGA | MGI Sequence Detail 4421 Not Applicable 
polypeptide OTTMUSP00000019372 VEGA | MGI Sequence Detail 1317 Not Applicable 

For the selected sequences
All sequences(71) RefSeq(22) UniProt(2)
Polymorphisms
SNPs within 2kb(35 from dbSNP Build 137)    SNPs within 2kb including multiple locations(45)
Protein-related
information
ResourceIDDescription
InterPro IPR007110 Immunoglobulin-like domain
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR003599 Immunoglobulin subtype
InterPro IPR003598 Immunoglobulin subtype 2
Protein Ontology PR:000008968 immunoglobulin superfamily member 1
References
(Earliest) J:84383 Bernard DJ, et al., Normal reproductive function in InhBP/p120-deficient mice. Mol Cell Biol. 2003 Jul;23(14):4882-91
(Latest) J:190867 Sun Y, et al., Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet. 2012 Dec;44(12):1375-81
All references(31)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/20/2015
MGI 5.22
The Jackson Laboratory