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IGSF1 immunoglobulin superfamily member 1 [ Homo sapiens (human) ]

Gene ID: 3547, updated on 13-Nov-2022

Summary

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Official Symbol
IGSF1provided by HGNC
Official Full Name
immunoglobulin superfamily member 1provided by HGNC
Primary source
HGNC:HGNC:5948
See related
Ensembl:ENSG00000147255 MIM:300137; AllianceGenome:HGNC:5948
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CHTE; p120; IGCD1; IGDC1; INHBP; PGSF2
Summary
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]
Expression
Biased expression in testis (RPKM 3.9), adrenal (RPKM 3.4) and 13 other tissues See more
Orthologs
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Genomic context

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See IGSF1 in Genome Data Viewer
Location:
Xq26.1
Exon count:
22
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (131273506..131289464, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (129597609..129613409, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (130407480..130423280, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 191, pseudogene Neighboring gene olfactory receptor family 11 subfamily Q member 1 pseudogene Neighboring gene olfactory receptor family 11 subfamily N member 1 pseudogene Neighboring gene olfactory receptor family 5 subfamily AW member 1 pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency. Fourneaux R, et al. Eur J Endocrinol, 2022 Dec 1. PMID 36201163
  2. Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations. Elizabeth MSM, et al. Genes (Basel), 2022 Mar 30. PMID 35456429, Free PMC Article
  3. Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family. Fourneaux R, et al. Horm Res Paediatr, 2022. PMID 35350016
  4. Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review. Sugisawa C, et al. J Clin Endocrinol Metab, 2019 Dec 1. PMID 31504637
  5. A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation. Nishigaki S, et al. Thyroid, 2016 Dec. PMID 27762734

See all (32) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
    Title: IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
  2. Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.
    Title: Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.
  3. Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations.
    Title: Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying <i>IGSF1</i> Mutations.
  4. IGSF1 defect was the leading genetic cause of Congenital Isolated TSH Deficiency.
    Title: Genetics of Congenital Isolated TSH Deficiency: Mutation Screening of the Known Causative Genes and a Literature Review.
  5. somatotrope neurosecretory hyperfunction in IGSF1-deficient humans and mice.
    Title: IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction.
  6. A novel mutation (c.2713C>T, p.Q905X) of the IGSF1 gene was identified that causes congenital central hypothyroidism in a Japanese family. The findings further expand the clinical heterogeneity of this entity.
    Title: A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.
  7. We identified a novel insertion mutation in the IGSF1 gene and further delineated the phenotype of the IGSF1-deficiency syndrome. Our findings indicate a possible association between an IGSF1 mutation and neurological phenotypes.
    Title: Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.
  8. Individuals with identical IGSF1 deletions can exhibit variable pituitary hormone deficiencies, of which overt TSH deficiency is the most consistent feature
    Title: Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.
  9. IGSF1 Deficiency is associated with X-linked IGSF1 deficiency syndrome.
    Title: IGSF1 Deficiency: Lessons From an Extensive Case Series and Recommendations for Clinical Management.
  10. Adult male patients with IGSF1 deficiency exhibit mild deficits in attentional control on formal testing.
    Title: Mild deficits in attentional control in patients with the IGSF1 deficiency syndrome.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
X-linked central congenital hypothyroidism with late-onset testicular enlargement
MedGen: C3550963 OMIM: 300888 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA0364, MGC75490

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables activin receptor antagonist activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables coreceptor activity IEA
Inferred from Electronic Annotation
more info
  
enables inhibin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in negative regulation of activin receptor signaling pathway IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of DNA-templated transcription IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
immunoglobulin superfamily member 1
Names
immunoglobulin-like domain-containing protein 1
inhibin-binding protein
pituitary gland-specific factor 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_021190.4 RefSeqGene

    Range
    294594..310394
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_840

mRNA and Protein(s)

  1. NM_001170961.2 → NP_001164432.1  immunoglobulin superfamily member 1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001164432.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest protein (isoform 3).
    Source sequence(s)
    AL590806
    Consensus CDS
    CCDS55491.1
    UniProtKB/Swiss-Prot
    Q8N6C5
    Related
    ENSP00000359940.3, ENST00000370903.8
    Conserved Domains (2) summary
    smart00410
    Location:793 → 873
    IG_like; Immunoglobulin like
    cl11960
    Location:1166 → 1252
    Ig; Immunoglobulin domain

  2. NM_001170962.2 → NP_001164433.1  immunoglobulin superfamily member 1 isoform 4

    See identical proteins and their annotated locations for NP_001164433.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate in-frame exon in the 5' coding region and uses an alternate in-frame splice site in a 3' exon compared to variant 3. The resulting protein (isoform 4) is shorter compared to isoform 3.
    Source sequence(s)
    AL590806
    Consensus CDS
    CCDS55490.1
    UniProtKB/Swiss-Prot
    Q8N6C5
    Related
    ENSP00000359947.1, ENST00000370910.5
    Conserved Domains (2) summary
    smart00410
    Location:779 → 859
    IG_like; Immunoglobulin like
    cl11960
    Location:1152 → 1238
    Ig; Immunoglobulin domain

  3. NM_001170963.2 → NP_001164434.1  immunoglobulin superfamily member 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_001164434.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, and 3' coding region and UTR compared to variant 3. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 3. Variants 2 and 5 encode the same protein.
    Source sequence(s)
    AL590806
    Consensus CDS
    CCDS14630.1
    UniProtKB/Swiss-Prot
    Q8N6C5
    Related
    ENSP00000359937.1, ENST00000370900.5
    Conserved Domains (2) summary
    smart00410
    Location:142 → 200
    IG_like; Immunoglobulin like
    cl11960
    Location:130 → 222
    Ig; Immunoglobulin domain

  4. NM_001555.5 → NP_001546.2  immunoglobulin superfamily member 1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001546.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice site in a 3' exon compared to variant 3. The resulting protein (isoform 1) is shorter compared to isoform 3.
    Source sequence(s)
    AL590806
    Consensus CDS
    CCDS14629.1
    UniProtKB/Swiss-Prot
    Q8N6C5, Q9NTC8
    Related
    ENSP00000355010.3, ENST00000361420.8
    Conserved Domains (2) summary
    smart00410
    Location:788 → 868
    IG_like; Immunoglobulin like
    cl11960
    Location:1161 → 1247
    Ig; Immunoglobulin domain

  5. NM_205833.4 → NP_991402.1  immunoglobulin superfamily member 1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_991402.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' coding region and UTR compared to variant 3. The resulting protein (isoform 2) has a distinct C-terminus and is shorter than isoform 3. Variants 2 and 5 encode the same protein.
    Source sequence(s)
    AL590806
    Consensus CDS
    CCDS14630.1
    UniProtKB/Swiss-Prot
    Q8N6C5
    Related
    ENSP00000359938.4, ENST00000370901.4
    Conserved Domains (2) summary
    smart00410
    Location:142 → 200
    IG_like; Immunoglobulin like
    cl11960
    Location:130 → 222
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    131273506..131289464 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531330.2 → XP_011529632.1  immunoglobulin superfamily member 1 isoform X1

    See identical proteins and their annotated locations for XP_011529632.1

    UniProtKB/Swiss-Prot
    Q8N6C5
    Conserved Domains (2) summary
    smart00410
    Location:793 → 873
    IG_like; Immunoglobulin like
    cl11960
    Location:1166 → 1252
    Ig; Immunoglobulin domain

  2. XM_047442086.1 → XP_047298042.1  immunoglobulin superfamily member 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9NTC8
    Related
    ENSP00000498607.1, ENST00000652189.1

  3. XM_047442087.1 → XP_047298043.1  immunoglobulin superfamily member 1 isoform X2

    UniProtKB/Swiss-Prot
    Q9NTC8
    Related
    ENSP00000498789.1, ENST00000651556.1

  4. XM_047442085.1 → XP_047298041.1  immunoglobulin superfamily member 1 isoform X1

  5. XM_047442088.1 → XP_047298044.1  immunoglobulin superfamily member 1 isoform X4

  6. XM_011531334.3 → XP_011529636.1  immunoglobulin superfamily member 1 isoform X5

    Conserved Domains (2) summary
    smart00410
    Location:793 → 873
    IG_like; Immunoglobulin like
    cl11960
    Location:974 → 1060
    Ig; Immunoglobulin domain

  7. XM_011531333.3 → XP_011529635.1  immunoglobulin superfamily member 1 isoform X3

    Conserved Domains (2) summary
    smart00410
    Location:793 → 873
    IG_like; Immunoglobulin like
    cl11960
    Location:1083 → 1169
    Ig; Immunoglobulin domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    129597609..129613409 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N6C5.3 GenPept UniProtKB/Swiss-Prot:Q8N6C5

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