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

    Gene ID: 209268, updated on 27-Nov-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 immune response-regulating signaling pathway; negative regulation of activin receptor signaling pathway; and regulation of DNA-templated transcription. Predicted to be located in extracellular region. Predicted to be active in membrane. Is expressed in several structures, including forebrain; liver; and medulla oblongata part of 4th ventricle choroid plexus. 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, Nov 2024]
    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. 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
    4. 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
    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 (24) 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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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 IEA
    Inferred from Electronic Annotation
    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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