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

    Gene ID: 3547, updated on 2-Nov-2024

    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
    mouse all
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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
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (131273506..131289464, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (129597609..129613567, complement)
    RS_2024_09 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:130291947-130292676 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:130346479-130347258 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:130347259-130348036 Neighboring gene olfactory receptor family 11 subfamily Q member 1 pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130398303-130398804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130398805-130399304 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130412038-130412586 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:130412587-130413133 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:130424759-130425476 Neighboring gene H3K27ac hESC enhancer GRCh37_chrX:130440821-130441320 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 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 mutation as a cause of isolated central hypothyroidism. Costas Eimil J, et al. Endocrinol Diabetes Nutr (Engl Ed), 2022 Dec. PMID 36464600
    2. Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25. Mazzarella R, et al. Genomics, 1998 Mar 1. PMID 9521868
    3. Identification and genomic organization of a gene coding for a new member of the cell adhesion molecule family mapping to Xq25. Frattini A, et al. Gene, 1998 Jul 3. PMID 9729118
    4. An internal signal sequence directs intramembrane proteolysis of a cellular immunoglobulin domain protein. Robakis T, et al. J Biol Chem, 2008 Dec 26. PMID 18981173, Free PMC Article
    5. Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism. Nakamura A, et al. J Clin Endocrinol Metab, 2013 Oct. PMID 23966245

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Clinical characteristics and genetic analysis of four patients with central hypothyroidism due to IGSF1 gene variants].
      Title: [Clinical characteristics and genetic analysis of four patients with central hypothyroidism due to IGSF1 gene variants].
    2. IGSF1 mutation as a cause of isolated central hypothyroidism.
      Title: IGSF1 mutation as a cause of isolated central hypothyroidism.
    3. IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
      Title: IGSF1 mutations are the most frequent genetic aetiology of thyrotropin deficiency.
    4. 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.
    5. 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 IGSF1 Mutations.
    6. 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.
    7. somatotrope neurosecretory hyperfunction in IGSF1-deficient humans and mice.
      Title: IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    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
    		Compare labs

    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 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 immune response-regulating signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    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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    NEW Try the new Transcript table

    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/TrEMBL
      A0A494C0K8
      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 precursor

      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/TrEMBL
      A0A494C0K8
      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
      B5MEG2, H9KV64, O15070, Q8N6C5, Q9NTC8
      UniProtKB/TrEMBL
      A0A494C0K8
      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: GCF_000001405.40-RS_2024_08

    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/TrEMBL
      A0A494C0K8
      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
      B5MEG2, H9KV64, O15070, Q8N6C5, Q9NTC8
      Related
      ENSP00000498607.1, ENST00000652189.1

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

      UniProtKB/Swiss-Prot
      B5MEG2, H9KV64, O15070, Q8N6C5, 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

      UniProtKB/TrEMBL
      A0A494C0K8
      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

      UniProtKB/TrEMBL
      A0A494C0K8
      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..129613567 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054327006.1 → XP_054182981.1  immunoglobulin superfamily member 1 isoform X1

    2. XM_054327007.1 → XP_054182982.1  immunoglobulin superfamily member 1 isoform X2

      UniProtKB/Swiss-Prot
      B5MEG2, H9KV64, O15070, Q8N6C5, Q9NTC8

    3. XM_054327008.1 → XP_054182983.1  immunoglobulin superfamily member 1 isoform X2

      UniProtKB/Swiss-Prot
      B5MEG2, H9KV64, O15070, Q8N6C5, Q9NTC8

    4. XM_054327005.1 → XP_054182980.1  immunoglobulin superfamily member 1 isoform X1

    5. XM_054327010.1 → XP_054182985.1  immunoglobulin superfamily member 1 isoform X4

    6. XM_054327011.1 → XP_054182986.1  immunoglobulin superfamily member 1 isoform X5

    7. XM_054327009.1 → XP_054182984.1  immunoglobulin superfamily member 1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6C5.3 GenPept UniProtKB/Swiss-Prot:Q8N6C5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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