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

Gene ID: 3547, updated on 12-Aug-2018

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; Vega:OTTHUMG00000022406
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

Genomic context

See IGSF1 in Genome Data Viewer
Location:
Xq26.1
Exon count:
22
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) X NC_000023.11 (131273506..131289457, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (130407480..130423403, 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

Expression

  • 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0364, MGC75490

Gene Ontology Provided by GOA

Function Evidence Code Pubs
activin receptor antagonist activity IDA
Inferred from Direct Assay
more info
PubMed 
coreceptor activity IEA
Inferred from Electronic Annotation
more info
 
inhibin binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
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)

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_021190.3 RefSeqGene

    Range
    294471..310394
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001170961.1NP_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)
    AK226008, AL590806
    Consensus CDS
    CCDS55491.1
    UniProtKB/Swiss-Prot
    Q8N6C5
    Related
    ENSP00000359940.3, ENST00000370903.7
    Conserved Domains (2) summary
    smart00410
    Location:793873
    IG_like; Immunoglobulin like
    cl11960
    Location:11661252
    Ig; Immunoglobulin domain
  2. NM_001170962.1NP_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)
    AF034198, AL590806
    Consensus CDS
    CCDS55490.1
    UniProtKB/Swiss-Prot
    Q8N6C5
    Related
    ENSP00000359947.1, OTTHUMP00000024028, ENST00000370910.5, OTTHUMT00000058287
    Conserved Domains (2) summary
    smart00410
    Location:779859
    IG_like; Immunoglobulin like
    cl11960
    Location:11521238
    Ig; Immunoglobulin domain
  3. NM_001170963.1NP_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)
    BC028312
    Consensus CDS
    CCDS14630.1
    UniProtKB/Swiss-Prot
    Q8N6C5
    Related
    ENSP00000359937.1, OTTHUMP00000024031, ENST00000370900.5, OTTHUMT00000058292
    Conserved Domains (2) summary
    smart00410
    Location:142200
    IG_like; Immunoglobulin like
    cl11960
    Location:130222
    Ig; Immunoglobulin domain
  4. NM_001555.4NP_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, BC063884
    Consensus CDS
    CCDS14629.1
    UniProtKB/Swiss-Prot
    Q8N6C5
    Related
    ENSP00000355010.3, OTTHUMP00000024029, ENST00000361420.7, OTTHUMT00000058288
    Conserved Domains (2) summary
    smart00410
    Location:788868
    IG_like; Immunoglobulin like
    cl11960
    Location:11611247
    Ig; Immunoglobulin domain
  5. NM_205833.3NP_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)
    AK057916, AL590806
    Consensus CDS
    CCDS14630.1
    UniProtKB/Swiss-Prot
    Q8N6C5
    Related
    ENSP00000359938.4, OTTHUMP00000024030, ENST00000370901.4, OTTHUMT00000058289
    Conserved Domains (2) summary
    smart00410
    Location:142200
    IG_like; Immunoglobulin like
    cl11960
    Location:130222
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p12 Primary Assembly

    Range
    131273506..131289457 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531330.1XP_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:793873
    IG_like; Immunoglobulin like
    cl11960
    Location:11661252
    Ig; Immunoglobulin domain
  2. XM_011531334.2XP_011529636.1  immunoglobulin superfamily member 1 isoform X3

    Conserved Domains (2) summary
    smart00410
    Location:793873
    IG_like; Immunoglobulin like
    cl11960
    Location:9741060
    Ig; Immunoglobulin domain
  3. XM_011531333.2XP_011529635.1  immunoglobulin superfamily member 1 isoform X2

    Conserved Domains (2) summary
    smart00410
    Location:793873
    IG_like; Immunoglobulin like
    cl11960
    Location:10831169
    Ig; Immunoglobulin domain
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