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

    Gene ID: 3547, updated on 17-Sep-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    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)

    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_001170961.2NP_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:793873
      IG_like; Immunoglobulin like
      cl11960
      Location:11661252
      Ig; Immunoglobulin domain
    2. NM_001170962.2NP_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:779859
      IG_like; Immunoglobulin like
      cl11960
      Location:11521238
      Ig; Immunoglobulin domain
    3. NM_001170963.2NP_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:142200
      IG_like; Immunoglobulin like
      cl11960
      Location:130222
      Ig; Immunoglobulin domain
    4. NM_001555.5NP_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:788868
      IG_like; Immunoglobulin like
      cl11960
      Location:11611247
      Ig; Immunoglobulin domain
    5. NM_205833.4NP_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:142200
      IG_like; Immunoglobulin like
      cl11960
      Location:130222
      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_011531330.2XP_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:793873
      IG_like; Immunoglobulin like
      cl11960
      Location:11661252
      Ig; Immunoglobulin domain
    2. XM_047442086.1XP_047298042.1  immunoglobulin superfamily member 1 isoform X2

      UniProtKB/Swiss-Prot
      B5MEG2, H9KV64, O15070, Q8N6C5, Q9NTC8
      UniProtKB/TrEMBL
      A0A494C0K8
      Related
      ENSP00000498607.1, ENST00000652189.1
    3. XM_047442087.1XP_047298043.1  immunoglobulin superfamily member 1 isoform X2

      UniProtKB/Swiss-Prot
      B5MEG2, H9KV64, O15070, Q8N6C5, Q9NTC8
      UniProtKB/TrEMBL
      A0A494C0K8
      Related
      ENSP00000498789.1, ENST00000651556.1
    4. XM_047442085.1XP_047298041.1  immunoglobulin superfamily member 1 isoform X1

      UniProtKB/TrEMBL
      A0A494C0K8
    5. XM_047442088.1XP_047298044.1  immunoglobulin superfamily member 1 isoform X4

      UniProtKB/TrEMBL
      A0A494C0K8
    6. XM_011531334.3XP_011529636.1  immunoglobulin superfamily member 1 isoform X5

      UniProtKB/TrEMBL
      A0A494C0K8
      Conserved Domains (2) summary
      smart00410
      Location:793873
      IG_like; Immunoglobulin like
      cl11960
      Location:9741060
      Ig; Immunoglobulin domain
    7. XM_011531333.3XP_011529635.1  immunoglobulin superfamily member 1 isoform X3

      UniProtKB/TrEMBL
      A0A494C0K8
      Conserved Domains (2) summary
      smart00410
      Location:793873
      IG_like; Immunoglobulin like
      cl11960
      Location:10831169
      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_054327006.1XP_054182981.1  immunoglobulin superfamily member 1 isoform X1

      UniProtKB/TrEMBL
      A0A494C0K8
    2. XM_054327007.1XP_054182982.1  immunoglobulin superfamily member 1 isoform X2

      UniProtKB/Swiss-Prot
      B5MEG2, H9KV64, O15070, Q8N6C5, Q9NTC8
      UniProtKB/TrEMBL
      A0A494C0K8
    3. XM_054327008.1XP_054182983.1  immunoglobulin superfamily member 1 isoform X2

      UniProtKB/Swiss-Prot
      B5MEG2, H9KV64, O15070, Q8N6C5, Q9NTC8
      UniProtKB/TrEMBL
      A0A494C0K8
    4. XM_054327005.1XP_054182980.1  immunoglobulin superfamily member 1 isoform X1

      UniProtKB/TrEMBL
      A0A494C0K8
    5. XM_054327010.1XP_054182985.1  immunoglobulin superfamily member 1 isoform X4

      UniProtKB/TrEMBL
      A0A494C0K8
    6. XM_054327011.1XP_054182986.1  immunoglobulin superfamily member 1 isoform X5

      UniProtKB/TrEMBL
      A0A494C0K8
    7. XM_054327009.1XP_054182984.1  immunoglobulin superfamily member 1 isoform X3

      UniProtKB/TrEMBL
      A0A494C0K8