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Igsf1 immunoglobulin superfamily, member 1 [ Mus musculus (house mouse) ]

Gene ID: 209268, updated on 11-Apr-2024

Summary

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Official Symbol
Igsf1provided by MGI
Official Full Name
immunoglobulin superfamily, member 1provided by MGI
Primary source
MGI:MGI:2147913
See related
Ensembl:ENSMUSG00000031111 AllianceGenome:MGI:2147913
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
mKIAA0364; 5330413N23; 5530402E03; InhBP/p120
Summary
Predicted to enable activin receptor antagonist activity; coreceptor activity; and inhibin binding activity. Predicted to be involved in negative regulation of activin receptor signaling pathway and regulation of transcription, DNA-templated. Predicted to act upstream of or within negative regulation of signaling receptor activity. Predicted to be located in membrane. Is expressed in brain and liver. Used to study IGSF1 deficiency syndrome. Human ortholog(s) of this gene implicated in IGSF1 deficiency syndrome. Orthologous to human IGSF1 (immunoglobulin superfamily member 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in liver E14.5 (RPKM 9.1), liver E14 (RPKM 8.7) and 8 other tissues See more
Orthologs
human all
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Genomic context

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See Igsf1 in Genome Data Viewer
Location:
X A5; X 26.06 cM
Exon count:
21
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (48871413..48886798, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (49782536..49797907, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 11 subfamily Q member 2 Neighboring gene STARR-seq mESC enhancer starr_47133 Neighboring gene olfactory receptor family 5 subfamily N member 1 Neighboring gene olfactory receptor family 11 subfamily N member 2 Neighboring gene small nuclear ribonucleoprotein B pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice. Turgeon MO, et al. Endocrinology, 2017 Apr 1. PMID 28324000, Free PMC Article
  2. Normal reproductive function in InhBP/p120-deficient mice. Bernard DJ, et al. Mol Cell Biol, 2003 Jul. PMID 12832474, Free PMC Article
  3. IGSF1 Deficiency Leads to Reduced TSH Production Independent of Alterations in Thyroid Hormone Action in Male Mice. Brûlé E, et al. Endocrinology, 2022 Aug 1. PMID 35708735, Free PMC Article
  4. The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein. Wang Y, et al. PLoS One, 2017. PMID 28686733, Free PMC Article
  5. IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction. Joustra SD, et al. J Clin Endocrinol Metab, 2020 Mar 1. PMID 31650157, Free PMC Article

See all (23) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. IGSF1 Deficiency Leads to Reduced TSH Production Independent of Alterations in Thyroid Hormone Action in Male Mice.
    Title: IGSF1 Deficiency Leads to Reduced TSH Production Independent of Alterations in Thyroid Hormone Action in Male Mice.
  2. Contrary to earlier predictions, neither the murine nor rat IGSF1-2 is secreted from heterologous or homologous cells. In addition, neither protein associates with the plasma membrane. Rather, IGSF1-2 appears to be retained in the endoplasmic reticulum.
    Title: The short mRNA isoform of the immunoglobulin superfamily, member 1 gene encodes an intracellular glycoprotein.
  3. Igsf1-deficient males exhibit normal serum TSH levels as well as normal numbers of TSH-expressing thyrotropes. However, pituitary expression of the TSH subunit genes and TSH protein content are reduced, as is expression of the receptor for thyrotropin-releasing hormone (TRH
    Title: TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables activin receptor antagonist activity ISO
Inferred from Sequence Orthology
more info
  
enables coreceptor activity ISO
Inferred from Sequence Orthology
more info
  
enables inhibin binding ISO
Inferred from Sequence Orthology
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
involved_in regulation of DNA-templated transcription ISO
Inferred from Sequence Orthology
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
immunoglobulin superfamily member 1
Names
betaglycan and inhibin binding protein
inhBP
inhibin-binding protein

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.

mRNA and Protein(s)

  1. NM_177591.4 → NP_808259.2  immunoglobulin superfamily member 1 isoform long precursor

    See identical proteins and their annotated locations for NP_808259.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest protein (isoform long).
    Source sequence(s)
    AY227771, BC100420, BQ032431
    Consensus CDS
    CCDS40964.1
    UniProtKB/Swiss-Prot
    Q6ZQD0, Q7TQ99, Q7TQA0, Q7TQA1, Q8BMN5
    Related
    ENSMUSP00000033442.8, ENSMUST00000033442.14
    Conserved Domains (2) summary
    smart00410
    Location:769 → 849
    IG_like; Immunoglobulin like
    cl11960
    Location:950 → 1042
    Ig; Immunoglobulin domain

  2. NM_177915.4 → NP_808583.1  immunoglobulin superfamily member 1 isoform short precursor

    See identical proteins and their annotated locations for NP_808583.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks most of the coding region and uses a different segment for its 3' coding region and 3' UTR, compared to variant 1. The resulting protein (isoform short) has a shorter and distinct C-terminus when it is compared to isoform long.
    Source sequence(s)
    AY227772, BC100420
    Consensus CDS
    CCDS40967.1
    UniProtKB/Swiss-Prot
    Q7TQA1
    Related
    ENSMUSP00000110541.2, ENSMUST00000114891.2
    Conserved Domains (1) summary
    cl11960
    Location:120 → 212
    Ig; Immunoglobulin domain

  3. NM_183335.2 → NP_899178.2  immunoglobulin superfamily member 1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_899178.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks most of the 5' UTR and uses a different segment for its 3' coding region and 3' UTR, compared to variant 1. The resulting protein (isoform 3) has a shorter and distinct C-terminus when it is compared to isoform long.
    Source sequence(s)
    AY227771, AY227773
    Consensus CDS
    CCDS40966.1
    UniProtKB/Swiss-Prot
    Q7TQA1
    Related
    ENSMUSP00000071919.7, ENSMUST00000072037.13
    Conserved Domains (1) summary
    cl11960
    Location:122 → 211
    Ig; Immunoglobulin domain

  4. NM_183336.2 → NP_899179.1  immunoglobulin superfamily member 1 isoform 4 precursor

    See identical proteins and their annotated locations for NP_899179.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains a different segment for its 5' UTR and lacks most of the 5' coding region which results in the use of an in-frame downstream start codon, compared to variant 1. The resulting protein (isoform 4) has a shorter N-terminus when it is compared to isoform long.
    Source sequence(s)
    AL731789, AY227774, BQ032431
    Consensus CDS
    CCDS40965.1
    UniProtKB/TrEMBL
    Q8BVV4
    Related
    ENSMUSP00000110543.2, ENSMUST00000114893.8
    Conserved Domains (2) summary
    smart00410
    Location:227 → 307
    IG_like; Immunoglobulin like
    cl11960
    Location:408 → 500
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000086.8 Reference GRCm39 C57BL/6J

    Range
    48871413..48886798 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011251002.3 → XP_011249304.1  immunoglobulin superfamily member 1 isoform X1

    See identical proteins and their annotated locations for XP_011249304.1

    Conserved Domains (1) summary
    cl11960
    Location:1067 → 1156
    Ig; Immunoglobulin domain

  2. XM_030251288.2 → XP_030107148.1  immunoglobulin superfamily member 1 isoform X5

    Conserved Domains (1) summary
    cl11960
    Location:1056 → 1145
    Ig; Immunoglobulin domain

  3. XM_006541482.2 → XP_006541545.1  immunoglobulin superfamily member 1 isoform X3

    Conserved Domains (1) summary
    cl11960
    Location:1058 → 1147
    Ig; Immunoglobulin domain

  4. XM_006541484.2 → XP_006541547.1  immunoglobulin superfamily member 1 isoform X4

    Conserved Domains (1) summary
    cl11960
    Location:1057 → 1146
    Ig; Immunoglobulin domain

  5. XM_011251003.1 → XP_011249305.1  immunoglobulin superfamily member 1 isoform X2

    Conserved Domains (1) summary
    cl11960
    Location:1066 → 1155
    Ig; Immunoglobulin domain

  6. XM_006541487.3 → XP_006541550.1  immunoglobulin superfamily member 1 isoform X9

    See identical proteins and their annotated locations for XP_006541550.1

    UniProtKB/Swiss-Prot
    Q7TQA1
    Conserved Domains (1) summary
    cl11960
    Location:122 → 211
    Ig; Immunoglobulin domain

  7. XM_030251289.2 → XP_030107149.1  immunoglobulin superfamily member 1 isoform X7

    Conserved Domains (1) summary
    cl11960
    Location:122 → 211
    Ig; Immunoglobulin domain

  8. XM_036161897.1 → XP_036017790.1  immunoglobulin superfamily member 1 isoform X8

    Conserved Domains (2) summary
    cd00096
    Location:122 → 128
    Ig; Ig strand A [structural motif]
    cl11960
    Location:121 → 211
    Ig; Immunoglobulin domain

  9. XM_011251004.2 → XP_011249306.1  immunoglobulin superfamily member 1 isoform X6

    Conserved Domains (1) summary
    cl11960
    Location:122 → 211
    Ig; Immunoglobulin domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q7TQA1.1 GenPept UniProtKB/Swiss-Prot:Q7TQA1

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