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Aliases for IGSF1 Gene

Aliases for IGSF1 Gene

  • Immunoglobulin Superfamily Member 1 2 3 5
  • Immunoglobulin-Like Domain-Containing Protein 1 3 4
  • Immunoglobulin Superfamily, Member 1 2 3
  • Pituitary Gland-Specific Factor 2 3 4
  • Inhibin-Binding Protein 3 4
  • INHBP 3 4
  • IGDC1 3 4
  • PGSF2 3 4
  • P120 3 4
  • KIAA0364 4
  • IGCD1 3
  • IgSF1 4
  • CHTE 3

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

Enhancers for IGSF1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around IGSF1 on UCSC Golden Path with GeneCards custom track

Promoters for IGSF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around IGSF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for IGSF1 Gene

Chromosome:
X
Start:
131,273,506 bp from pter
End:
131,578,899 bp from pter
Size:
305,394 bases
Orientation:
Minus strand

Genomic View for IGSF1 Gene

Genes around IGSF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IGSF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 Asn 53, Asn 338, Asn 374, Asn 381, Asn 607, Asn 747, Asn 798, Asn 846, Asn 939, Asn 986, Asn 1027, Asn 1082, Asn 1147, and Asn 1223
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for IGSF1

No data available for DME Specific Peptides for IGSF1 Gene

Domains & Families for IGSF1 Gene

Gene Families for IGSF1 Gene

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

Human Phenotype Ontology for IGSF1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IGSF1 Gene

MGI Knock Outs for IGSF1:

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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 4
plasma membrane 4
peroxisome 1

Gene Ontology (GO) - Cellular Components for IGSF1 Gene

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

Pathways & Interactions 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

None

No data available for SIGNOR curated interactions for IGSF1 Gene

Drugs & Compounds for IGSF1 Gene

No Compound Related Data Available

Transcripts for IGSF1 Gene

Unigene Clusters for IGSF1 Gene

Immunoglobulin superfamily, member 1:
Representative Sequences:

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 (x30.8) and Brain - Hypothalamus (x4.4).

Protein differential expression in normal tissues from HIPED for IGSF1 Gene

This gene is overexpressed in Fetal Liver (27.4), Spinal cord (12.9), and Bone marrow mesenchymal stem cell (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with IGSF1: view

Primer Products

No data available for Protein tissue co-expression partners for IGSF1 Gene

Orthologs for IGSF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IGSF1 Gene

Organism Taxonomy Gene Similarity Type Details
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
rat
(Rattus norvegicus)
Mammalia Igsf1 35
  • 87.36 (n)
  • 86.32 (a)
cow
(Bos Taurus)
Mammalia IGSF1 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 22 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 33 (a)
ManyToMany
-- 36
  • 27 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia IGSF1 36
  • 99 (a)
OneToOne
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

(2) 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
rs6637826 - 131,282,549(+) TACAT(G/T)GTTGA reference, missense
VAR_069269 Hypothyroidism, central, and testicular enlargement (CHTE)
VAR_069270 Hypothyroidism, central, and testicular enlargement (CHTE)
VAR_069271 Hypothyroidism, central, and testicular enlargement (CHTE)
rs747695427 -- 131,285,384(+) AGCCA(A/G)CCATG reference, synonymous-codon

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

Variation tolerance for IGSF1 Gene

Residual Variation Intolerance Score: 6.21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.43; 54.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for IGSF1 Gene

Human Gene Mutation Database (HGMD)
IGSF1

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

Disorders for IGSF1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for IGSF1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypothyroidism, central, and testicular enlargement
  • central hypothyroidism and testicular enlargement
x-linked central congenital hypothyroidism with late-onset testicular enlargement
  • igsf1 deficiency syndrome
hypothyroidism
  • thyroid deficiency
- elite association - COSMIC cancer census association via MalaCards
Search IGSF1 in MalaCards View complete list of genes associated with diseases

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
IGSF1
genes like me logo Genes that share disorders with IGSF1: view

No data available for Genatlas for IGSF1 Gene

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 67
  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
  3. IGSF1 variants in boys with familial delayed puberty. (PMID: 25354429) Joustra S.D. … Losekoot M. (Eur. J. Pediatr. 2015) 3
  4. Is IGSF1 involved in human pituitary tumor formation? (PMID: 25527509) Faucz F.R. … Stratakis C.A. (Endocr. Relat. Cancer 2015) 3
  5. Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism. (PMID: 23966245) Nakamura A. … Tajima T. (J. Clin. Endocrinol. Metab. 2013) 3

Products for IGSF1 Gene

Sources for IGSF1 Gene

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