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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
  • Pituitary Gland-Specific Factor 2 3 4
  • Inhibin-Binding Protein 3 4
  • INHBP 3 4
  • IGDC1 3 4
  • PGSF2 3 4
  • P120 3 4
  • Immunoglobulin Superfamily, Member 1 2
  • 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 Hypothyroidism. Among its related pathways are DNA Damage/Telomere Stress Induced Senescence. GO annotations related to this gene include receptor activity and inhibin binding. An important paralog of this gene is LILRB1.

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

Additional gene information for IGSF1 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH0XH131577 0.7 ENCODE 10.8 +0.7 729 1 NFRKB CEBPB SIN3A CEBPG ZNF316 POLR2A IKZF1 MLLT1 PRDM1 TAF7 IGSF1 OR13K1P
GH0XH131587 0.6 ENCODE 10.7 -9.9 -9877 2 TBP GATA3 JUND IKZF1 ZKSCAN8 ETV1 GABPA IGSF1 OR7L1P
GH0XH131476 0.4 ENCODE 10.7 +100.9 100852 2 ETS1 IGSF1 LOC100421039 LOC100421910
GH0XH131288 0.5 ENCODE 7.6 +289.8 289840 1 SP3 GLIS1 CHD7 MAFK ZKSCAN1 IGSF1 GC0XP131305 ENSG00000276205
GH0XH131235 0.4 ENCODE 9.1 +342.3 342312 1 NFIC NFE2 IGSF1 ENSG00000276205 GC0XP131305
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

Post-translational modifications for IGSF1 Gene

  • Glycosylation at posLast=5353, isoforms=2, 4338, isoforms=2, 4374, posLast=381381, posLast=607607, posLast=747747, posLast=798798, isoforms=2, 4846, posLast=939939, posLast=986986, posLast=10271027, posLast=10821082, isoforms=2, 41147, and posLast=12231223
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for IGSF1 Gene

Domains & Families for IGSF1 Gene

Gene Families for IGSF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins
  • Predicted secreted proteins

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

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

No data available for UniProtKB/Swiss-Prot for IGSF1 Gene

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.

Phenotypes From GWAS Catalog for IGSF1 Gene

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
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IGSF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IGSF1 gene
Compartment Confidence
plasma membrane 4
extracellular 4
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IGSF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0016020 membrane IEA,IDA 11266516
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

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

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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for IGSF1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for IGSF1 Gene



NURSA nuclear receptor signaling pathways regulating expression of IGSF1 Gene:

IGSF1

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.

Evidence on tissue expression from TISSUES for IGSF1 Gene

  • Nervous system(4.7)
  • Liver(4.2)
  • Thyroid gland(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IGSF1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • hypothalamus
  • neck
  • pituitary gland
  • thyroid
Thorax:
  • heart
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • uterus
General:
  • blood
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
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
chimpanzee
(Pan troglodytes)
Mammalia IGSF1 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IGSF1 33 34
  • 92.03 (n)
cow
(Bos Taurus)
Mammalia IGSF1 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Igsf1 33 16 34
  • 87.99 (n)
rat
(Rattus norvegicus)
Mammalia Igsf1 33
  • 87.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 33 (a)
ManyToMany
-- 34
  • 27 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 22 (a)
ManyToMany
chicken
(Gallus gallus)
Aves IGSF1 33
  • 44.11 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 27 (a)
OneToMany
Species where no ortholog for IGSF1 was found in the sources mined by GeneCards:
  • 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
rs397514622 Pathogenic, Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888] 131,276,974(-) CTGGT(C/T)TGAGC reference, missense
VAR_069269 Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888]
VAR_069271 Hypothyroidism, central, and testicular enlargement (CHTE) [MIM:300888]
rs398122919 Pathogenic 131,275,746(-) CCATG(A/G)TTGTT intron-variant, reference, stop-gained
rs398122920 Pathogenic 131,277,943(-) AAGAC(-/G)AAGGC reference, frameshift-variant

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

Variant ID Type Subtype PubMed ID
nsv522699 CNV gain 19592680
nsv528179 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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
hypothyroidism, central, and testicular enlargement
  • central hypothyroidism and testicular enlargement
hypothyroidism
  • thyroid deficiency
thyroid gland disease
  • abnormality of the thyroid gland
- 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 60
  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 60
  3. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. (PMID: 23143598) Sun Y … Bernard DJ (Nature genetics 2012) 3 4 60
  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 research 2002) 3 4 60
  5. Expression profile of active genes in the human pituitary gland. (PMID: 11854097) Tanaka S … Amino N (Journal of molecular endocrinology 2002) 3 4 60

Products for IGSF1 Gene

Sources for IGSF1 Gene

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