Free for academic non-profit institutions. Other users need a Commercial license

Aliases for IGSF1 Gene

Aliases for IGSF1 Gene

  • Immunoglobulin Superfamily, Member 1 2 3
  • IGDC1 3 4 6
  • Immunoglobulin-Like Domain-Containing Protein 1 3 4
  • Pituitary Gland-Specific Factor 2 3 4
  • Inhibin-Binding Protein 3 4
  • INHBP 3 4
  • PGSF2 3 4
  • P120 3 4
  • CHTE 3 6
  • Immunoglobulin Superfamily Member 1 3
  • KIAA0364 4
  • IGCD1 3
  • IgSF1 4

External Ids for IGSF1 Gene

Previous GeneCards Identifiers for IGSF1 Gene

  • GC0XM125053
  • GC0XM127253
  • GC0XM128352
  • GC0XM129113
  • GC0XM130133
  • GC0XM130235
  • GC0XM130407
  • GC0XM119813

Summaries for IGSF1 Gene

Entrez Gene Summary for IGSF1 Gene

  • 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. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]

GeneCards Summary for IGSF1 Gene

IGSF1 (Immunoglobulin Superfamily, Member 1) is a Protein Coding gene. Diseases associated with IGSF1 include hypothyroidism, central, and testicular enlargement and x-linked central congenital hypothyroidism with late-onset testicular enlargement. Among its related pathways are Packaging Of Telomere Ends. GO annotations related to this gene include receptor activity and inhibin binding. An important paralog of this gene is KIR2DL4.

UniProtKB/Swiss-Prot for IGSF1 Gene

  • 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.

Gene Wiki entry for IGSF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IGSF1 Gene

Genomics for IGSF1 Gene

Regulatory Elements for IGSF1 Gene

Genomic Location for IGSF1 Gene

Start:
131,273,506 bp from pter
End:
131,399,703 bp from pter
Size:
126,198 bases
Orientation:
Minus strand

Genomic View for IGSF1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IGSF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IGSF1 Gene

Proteins for IGSF1 Gene

  • Protein details for IGSF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N6C5-IGSF1_HUMAN
    Recommended name:
    Immunoglobulin superfamily member 1
    Protein Accession:
    Q8N6C5
    Secondary Accessions:
    • B5MEG2
    • H9KV64
    • O15070
    • Q9NTC8

    Protein attributes for IGSF1 Gene

    Size:
    1336 amino acids
    Molecular mass:
    148936 Da
    Quaternary structure:
    • Interacts with INHA (By similarity). In PubMed:12385827 does not interact with INHA; standard receptor binding assay. Interacts with ACVR1B; the interaction appears to be ligand-dependent as it is diminished by inhibin B and activin A. Interacts with ACVR2A, ACVR2B, ACVRL1 and BMPR1B. Interacts with HECTD1.

    Alternative splice isoforms for IGSF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IGSF1 Gene

Proteomics data for IGSF1 Gene at MOPED

Post-translational modifications for IGSF1 Gene

  • Glycosylation at Asn53, Asn338, Asn374, Asn381, Asn607, Asn747, Asn798, Asn846, Asn939, Asn986, Asn1027, Asn1082, Asn1147, and Asn1223
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IGSF1 Gene

Domains for IGSF1 Gene

Gene Families for IGSF1 Gene

HGNC:
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing

Protein Domains for IGSF1 Gene

Suggested Antigen Peptide Sequences for IGSF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N6C5

UniProtKB/Swiss-Prot:

IGSF1_HUMAN :
  • Q8N6C5
Domain:
  • Contains 12 Ig-like C2-type (immunoglobulin-like) domains.
genes like me logo Genes that share domains with IGSF1: view

Function for IGSF1 Gene

Molecular function for IGSF1 Gene

GENATLAS Biochemistry: immunoglobulin superfamily gene 1,highly expressed in adult testis and fetal liver,with a smaller alternate form expressed in adult heart,potentially involved in cell-surface recognition or cell-cell interaction
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for IGSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity IDA 11266516
GO:0005515 protein binding IPI 11266516
GO:0015026 coreceptor activity IEA --
GO:0034711 inhibin binding IDA 11266516
genes like me logo Genes that share ontologies with IGSF1: view

Phenotypes for IGSF1 Gene

MGI mutant phenotypes for IGSF1:
inferred from 1 alleles
GenomeRNAi human phenotypes for IGSF1:
genes like me logo Genes that share phenotypes with IGSF1: view

Animal Models for IGSF1 Gene

MGI Knock Outs for IGSF1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IGSF1

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for IGSF1 Gene

Localization for IGSF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IGSF1 Gene

Isoform 1: Membrane; Multi-pass membrane protein.
Isoform 2: Membrane; Multi-pass membrane protein.
Isoform 3: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for IGSF1 Gene COMPARTMENTS Subcellular localization image for IGSF1 gene
Compartment Confidence
extracellular 3
plasma membrane 3
cytosol 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for IGSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0016020 membrane IDA 11266516
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with IGSF1: view

Pathways for IGSF1 Gene

genes like me logo Genes that share pathways with IGSF1: view

Pathways by source for IGSF1 Gene

1 GeneGo (Thomson Reuters) pathway for IGSF1 Gene

Gene Ontology (GO) - Biological Process for IGSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IDA 11266516
GO:0007165 signal transduction IDA 11266516
genes like me logo Genes that share ontologies with IGSF1: view

Transcripts for IGSF1 Gene

Unigene Clusters for IGSF1 Gene

Immunoglobulin superfamily, member 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for IGSF1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for IGSF1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for IGSF1 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18 ^
SP1: - - - - -
SP2: -
SP3: -
SP4:
SP5:
SP6:
SP7:

ExUns: 19a · 19b ^ 20 ^ 21 ^ 22
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6:
SP7:

Relevant External Links for IGSF1 Gene

GeneLoc Exon Structure for
IGSF1
ECgene alternative splicing isoforms for
IGSF1

Expression for IGSF1 Gene

mRNA expression in normal human tissues for IGSF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IGSF1 Gene

This gene is overexpressed in Pituitary (30.8) and Brain - Hypothalamus (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IGSF1 Gene

SOURCE GeneReport for Unigene cluster for IGSF1 Gene Hs.22111

mRNA Expression by UniProt/SwissProt for IGSF1 Gene

Q8N6C5-IGSF1_HUMAN
Tissue specificity: Highly expressed in pancreas, testis and fetal liver. Moderately expressed in heart, prostate and small intestine. Expressed at very low levels in brain, thymus, ovary, colon, fetal lung and fetal kidney. Expressed in muscle. Isoform 3 is expressed in pituitary gland.
genes like me logo Genes that share expressions with IGSF1: view

In Situ Assay Products

Orthologs for IGSF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IGSF1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia IGSF1 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IGSF1 36
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IGSF1 35
  • 92.03 (n)
  • 90.94 (a)
IGSF1 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Igsf1 35
  • 87.99 (n)
  • 87.46 (a)
Igsf1 16
Igsf1 36
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 22 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 33 (a)
ManyToMany
-- 36
  • 27 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Igsf1 35
  • 87.36 (n)
  • 86.32 (a)
chicken
(Gallus gallus)
Aves IGSF1 35
  • 44.11 (n)
  • 31.06 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 27 (a)
OneToMany
Species with no ortholog for IGSF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for IGSF1 Gene

ENSEMBL:
Gene Tree for IGSF1 (if available)
TreeFam:
Gene Tree for IGSF1 (if available)

Paralogs for IGSF1 Gene

Selected SIMAP similar genes for IGSF1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with IGSF1: view

Variants for IGSF1 Gene

Sequence variations from dbSNP and Humsavar for IGSF1 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1128617 -- 131,281,844(-) CTGGA(A/G)TTTTC reference, synonymous-codon
rs1128618 -- 131,281,806(-) CCAAA(A/G)ATTCT reference, missense
rs1128619 -- 131,281,709(-) AACAT(C/G)TGGTC reference, missense
rs1128620 -- 131,277,906(-) AAAAC(G/T)CCCCT reference, missense
rs1128621 -- 131,275,180(-) TTTGT(C/G)CTGTT reference, synonymous-codon, intron-variant

Structural Variations from Database of Genomic Variants (DGV) for IGSF1 Gene

Variant ID Type Subtype PubMed ID
nsv528179 CNV Gain 19592680
nsv522699 CNV Gain 19592680

Relevant External Links for IGSF1 Gene

HapMap Linkage Disequilibrium report
IGSF1
Human Gene Mutation Database (HGMD)
IGSF1
Locus Specific Mutation Databases (LSDB)
IGSF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IGSF1 Gene

Disorders for IGSF1 Gene

(1) OMIM Diseases for IGSF1 Gene (300137)

UniProtKB/Swiss-Prot

IGSF1_HUMAN
  • 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 mutations affecting the gene represented in this entry.

Relevant External Links for IGSF1

Genetic Association Database (GAD)
IGSF1
genes like me logo Genes that share disorders with IGSF1: view

Publications for IGSF1 Gene

  1. Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25. (PMID: 9521868) Mazzarella R. … Schlessinger D. (Genomics 1998) 2 3 4
  2. Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25. (PMID: 9729118) Frattini A. … Vezzoni P. (Gene 1998) 2 3 4
  3. Expression profile of active genes in the human pituitary gland. (PMID: 11854097) Tanaka S. … Amino N. (J. Mol. Endocrinol. 2002) 3 4
  4. Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. (PMID: 12421765) Nakayama M. … Ohara O. (Genome Res. 2002) 3 4
  5. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. (PMID: 23143598) Sun Y. … Bernard D.J. (Nat. Genet. 2012) 3 4

Products for IGSF1 Gene

Sources for IGSF1 Gene

Back to Top

Content