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    IGSF10 immunoglobulin superfamily member 10 [ Homo sapiens (human) ]

    Gene ID: 285313, updated on 17-Jun-2024

    Summary

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    Official Symbol
    IGSF10provided by HGNC
    Official Full Name
    immunoglobulin superfamily member 10provided by HGNC
    Primary source
    HGNC:HGNC:26384
    See related
    Ensembl:ENSG00000152580 MIM:617351; AllianceGenome:HGNC:26384
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CMF608
    Summary
    Predicted to be involved in regulation of neuron migration. Predicted to act upstream of or within ossification. Located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in gall bladder (RPKM 9.0), ovary (RPKM 8.9) and 19 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See IGSF10 in Genome Data Viewer
    Location:
    3q25.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (151432432..151619925, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (154193223..154376990, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (151153991..151257104, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene mediator complex subunit 12L Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20701 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:151110665-151111260 Neighboring gene purinergic receptor P2Y13 Neighboring gene purinergic receptor P2Y12 Neighboring gene Sharpr-MPRA regulatory region 9761 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:151201363-151201864 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:151201865-151202364 Neighboring gene mitochondrial ribosomal protein L42 pseudogene 6 Neighboring gene MPRA-validated peak4860 silencer Neighboring gene long intergenic non-protein coding RNA 2066 Neighboring gene uncharacterized LOC105374157 Neighboring gene microRNA 5186 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:151467502-151468701 Neighboring gene AADACL2 antisense RNA 1 Neighboring gene arylacetamide deacetylase like 2

    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
    • 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. SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD). Budny B, et al. Front Endocrinol (Lausanne), 2020. PMID 32612575, Free PMC Article
    2. IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty. Howard SR, et al. EMBO Mol Med, 2016 Jun. PMID 27137492, Free PMC Article
    3. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article
    4. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    5. E3 ubiquitin ligase RNF123 targets lamin B1 and lamin-binding proteins. Khanna R, et al. FEBS J, 2018 Jun. PMID 29676528

    See all (12) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. IGSF10 inhibits the metastasis of lung adenocarcinoma via the Spi-B/Integrin-beta1 signaling pathway.
      Title: IGSF10 inhibits the metastasis of lung adenocarcinoma via the Spi-B/Integrin-β1 signaling pathway.
    2. SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
      Title: SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
    3. These data strongly suggest that mutations in IGSF10 cause delayed puberty in humans, and points to a common genetic basis for conditions of functional hypogonadotropic hypogonadism (HH).
      Title: IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    • FLJ25972

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of neuron migration ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    immunoglobulin superfamily member 10
    Names
    calvaria mechanical force protein 608

    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.

    mRNA and Protein(s)

    1. NM_001178145.3 → NP_001171616.2  immunoglobulin superfamily member 10 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC024886
      Related
      ENST00000495443.1
      Conserved Domains (3) summary
      pfam13927
      Location:410 → 489
      Ig_3; Immunoglobulin domain
      cd00096
      Location:420 → 424
      Ig; putative Ig strand A' [structural motif]
      cl11960
      Location:120 → 203
      Ig; Immunoglobulin domain

    2. NM_001178146.3 → NP_001171617.1  immunoglobulin superfamily member 10 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC024886
      UniProtKB/Swiss-Prot
      Q6WRI0
      Related
      ENST00000493841.1
      Conserved Domains (3) summary
      pfam13927
      Location:410 → 489
      Ig_3; Immunoglobulin domain
      cd00096
      Location:420 → 424
      Ig; putative Ig strand A' [structural motif]
      cl11960
      Location:120 → 203
      Ig; Immunoglobulin domain

    3. NM_001385060.1 → NP_001371989.1  immunoglobulin superfamily member 10 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC024886, AC117454
      Consensus CDS
      CCDS3160.1
      UniProtKB/Swiss-Prot
      Q6WRI0, Q86YJ9, Q8N772, Q8NA84
      Conserved Domains (10) summary
      TIGR00864
      Location:192 → 317
      PCC; polycystin cation channel protein
      smart00013
      Location:28 → 60
      LRRNT; Leucine rich repeat N-terminal domain
      smart00409
      Location:582 → 662
      IG; Immunoglobulin
      sd00033
      Location:39 → 58
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05109
      Location:1293 → 1667
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam13855
      Location:81 → 141
      LRR_8; Leucine rich repeat
      pfam13927
      Location:2431 → 2510
      Ig_3; Immunoglobulin domain
      cd00096
      Location:2441 → 2445
      Ig; putative Ig strand A' [structural motif]
      cd21340
      Location:76 → 220
      PPP1R42; protein phosphatase 1 regulatory subunit 42
      cl11960
      Location:1744 → 1837
      Ig; Immunoglobulin domain

    4. NM_001385061.1 → NP_001371990.1  immunoglobulin superfamily member 10 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC024886, AC117454
      Consensus CDS
      CCDS3160.1
      UniProtKB/Swiss-Prot
      Q6WRI0, Q86YJ9, Q8N772, Q8NA84
      Conserved Domains (10) summary
      TIGR00864
      Location:192 → 317
      PCC; polycystin cation channel protein
      smart00013
      Location:28 → 60
      LRRNT; Leucine rich repeat N-terminal domain
      smart00409
      Location:582 → 662
      IG; Immunoglobulin
      sd00033
      Location:39 → 58
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05109
      Location:1293 → 1667
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam13855
      Location:81 → 141
      LRR_8; Leucine rich repeat
      pfam13927
      Location:2431 → 2510
      Ig_3; Immunoglobulin domain
      cd00096
      Location:2441 → 2445
      Ig; putative Ig strand A' [structural motif]
      cd21340
      Location:76 → 220
      PPP1R42; protein phosphatase 1 regulatory subunit 42
      cl11960
      Location:1744 → 1837
      Ig; Immunoglobulin domain

    5. NM_001385062.1 → NP_001371991.1  immunoglobulin superfamily member 10 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC024886, AC117454
      Consensus CDS
      CCDS3160.1
      UniProtKB/Swiss-Prot
      Q6WRI0, Q86YJ9, Q8N772, Q8NA84
      Conserved Domains (10) summary
      TIGR00864
      Location:192 → 317
      PCC; polycystin cation channel protein
      smart00013
      Location:28 → 60
      LRRNT; Leucine rich repeat N-terminal domain
      smart00409
      Location:582 → 662
      IG; Immunoglobulin
      sd00033
      Location:39 → 58
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05109
      Location:1293 → 1667
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam13855
      Location:81 → 141
      LRR_8; Leucine rich repeat
      pfam13927
      Location:2431 → 2510
      Ig_3; Immunoglobulin domain
      cd00096
      Location:2441 → 2445
      Ig; putative Ig strand A' [structural motif]
      cd21340
      Location:76 → 220
      PPP1R42; protein phosphatase 1 regulatory subunit 42
      cl11960
      Location:1744 → 1837
      Ig; Immunoglobulin domain

    6. NM_001385063.1 → NP_001371992.1  immunoglobulin superfamily member 10 isoform 1 precursor

      Status: VALIDATED

      Source sequence(s)
      AC024886, AC117454
      Consensus CDS
      CCDS3160.1
      UniProtKB/Swiss-Prot
      Q6WRI0, Q86YJ9, Q8N772, Q8NA84
      Conserved Domains (10) summary
      TIGR00864
      Location:192 → 317
      PCC; polycystin cation channel protein
      smart00013
      Location:28 → 60
      LRRNT; Leucine rich repeat N-terminal domain
      smart00409
      Location:582 → 662
      IG; Immunoglobulin
      sd00033
      Location:39 → 58
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05109
      Location:1293 → 1667
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam13855
      Location:81 → 141
      LRR_8; Leucine rich repeat
      pfam13927
      Location:2431 → 2510
      Ig_3; Immunoglobulin domain
      cd00096
      Location:2441 → 2445
      Ig; putative Ig strand A' [structural motif]
      cd21340
      Location:76 → 220
      PPP1R42; protein phosphatase 1 regulatory subunit 42
      cl11960
      Location:1744 → 1837
      Ig; Immunoglobulin domain

    7. NM_178822.5 → NP_849144.2  immunoglobulin superfamily member 10 isoform 1 precursor

      See identical proteins and their annotated locations for NP_849144.2

      Status: VALIDATED

      Source sequence(s)
      AC024886
      Consensus CDS
      CCDS3160.1
      UniProtKB/Swiss-Prot
      Q6WRI0, Q86YJ9, Q8N772, Q8NA84
      Related
      ENSP00000282466.3, ENST00000282466.4
      Conserved Domains (10) summary
      TIGR00864
      Location:192 → 317
      PCC; polycystin cation channel protein
      smart00013
      Location:28 → 60
      LRRNT; Leucine rich repeat N-terminal domain
      smart00409
      Location:582 → 662
      IG; Immunoglobulin
      sd00033
      Location:39 → 58
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05109
      Location:1293 → 1667
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam13855
      Location:81 → 141
      LRR_8; Leucine rich repeat
      pfam13927
      Location:2431 → 2510
      Ig_3; Immunoglobulin domain
      cd00096
      Location:2441 → 2445
      Ig; putative Ig strand A' [structural motif]
      cd21340
      Location:76 → 220
      PPP1R42; protein phosphatase 1 regulatory subunit 42
      cl11960
      Location:1744 → 1837
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      151432432..151619925 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448015.1 → XP_047303971.1  immunoglobulin superfamily member 10 isoform X6

    2. XM_011512709.3 → XP_011511011.1  immunoglobulin superfamily member 10 isoform X2

      See identical proteins and their annotated locations for XP_011511011.1

      UniProtKB/Swiss-Prot
      Q6WRI0, Q86YJ9, Q8N772, Q8NA84
      Conserved Domains (10) summary
      TIGR00864
      Location:192 → 317
      PCC; polycystin cation channel protein
      smart00013
      Location:28 → 60
      LRRNT; Leucine rich repeat N-terminal domain
      smart00409
      Location:582 → 662
      IG; Immunoglobulin
      sd00033
      Location:39 → 58
      LRR_RI; leucine-rich repeat [structural motif]
      pfam05109
      Location:1293 → 1667
      Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
      pfam13855
      Location:81 → 141
      LRR_8; Leucine rich repeat
      pfam13927
      Location:2431 → 2510
      Ig_3; Immunoglobulin domain
      cd00096
      Location:2441 → 2445
      Ig; putative Ig strand A' [structural motif]
      cd21340
      Location:76 → 220
      PPP1R42; protein phosphatase 1 regulatory subunit 42
      cl11960
      Location:1744 → 1837
      Ig; Immunoglobulin domain

    3. XM_011512708.3 → XP_011511010.1  immunoglobulin superfamily member 10 isoform X1

      Conserved Domains (8) summary
      smart00408
      Location:2228 → 2292
      IGc2; Immunoglobulin C-2 Type
      smart00082
      Location:291 → 309
      LRRCT; Leucine rich repeat C-terminal domain
      smart00409
      Location:2417 → 2500
      IG; Immunoglobulin
      smart00410
      Location:654 → 734
      IG_like; Immunoglobulin like
      pfam07679
      Location:2213 → 2296
      I-set; Immunoglobulin I-set domain
      sd00033
      Location:111 → 130
      LRR_RI; leucine-rich repeat [structural motif]
      pfam13855
      Location:153 → 213
      LRR_8; Leucine rich repeat
      cl11960
      Location:1740 → 1812
      Ig; Immunoglobulin domain

    4. XM_047448013.1 → XP_047303969.1  immunoglobulin superfamily member 10 isoform X4

    5. XM_047448011.1 → XP_047303967.1  immunoglobulin superfamily member 10 isoform X1

    6. XM_047448016.1 → XP_047303972.1  immunoglobulin superfamily member 10 isoform X7

    7. XM_047448014.1 → XP_047303970.1  immunoglobulin superfamily member 10 isoform X5

    8. XM_047448012.1 → XP_047303968.1  immunoglobulin superfamily member 10 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      154193223..154376990 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346298.1 → XP_054202273.1  immunoglobulin superfamily member 10 isoform X2

    2. XM_054346297.1 → XP_054202272.1  immunoglobulin superfamily member 10 isoform X1

    3. XM_054346299.1 → XP_054202274.1  immunoglobulin superfamily member 10 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6WRI0.1 GenPept UniProtKB/Swiss-Prot:Q6WRI0

    Gene LinkOut

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

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