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    C8orf34 chromosome 8 open reading frame 34 [ Homo sapiens (human) ]

    Gene ID: 116328, updated on 17-Sep-2024

    Summary

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    Official Symbol
    C8orf34provided by HGNC
    Official Full Name
    chromosome 8 open reading frame 34provided by HGNC
    Primary source
    HGNC:HGNC:30905
    See related
    Ensembl:ENSG00000165084 AllianceGenome:HGNC:30905
    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
    VEST1; VEST-1
    Summary
    This gene encodes a protein that is related to the cyclic AMP dependent protein kinase regulators. Naturally occurring mutations in this gene are associated with an increased risk for severe toxicities, such as diarrhea and neutropenia, in patients undergoing chemotherapeutic treatment. [provided by RefSeq, Mar 2017]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See C8orf34 in Genome Data Viewer
    Location:
    8q13.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (68330373..68819023)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (68757073..69245732)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (69242608..69731258)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 2 Neighboring gene uncharacterized LOC124901957 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:69114328-69114936 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:69141606-69142185 Neighboring gene MPRA-validated peak7062 silencer Neighboring gene MPRA-validated peak7063 silencer Neighboring gene C8orf34 antisense RNA 1 Neighboring gene ribosomal protein L31 pseudogene 40 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:69372559-69373058 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:69422928-69424127 Neighboring gene ret finger protein like 4A pseudogene 2 Neighboring gene ribosomal protein S15a pseudogene 25 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:69552844-69553829 Neighboring gene RNA, 5S ribosomal pseudogene 269 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:69655931-69656489 Neighboring gene NANOG hESC enhancer GRCh37_chr8:69671922-69672423 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:69755751-69756502 Neighboring gene uncharacterized LOC107986951 Neighboring gene Sharpr-MPRA regulatory region 891 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:69837689-69838233 Neighboring gene long intergenic non-protein coding RNA 1592 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:69885119-69885678 Neighboring gene 8q13.2-q13.3 proximal HERV-mediated recombination region Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:69916922-69917442 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_103601

    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 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. The landscape of kinase fusions in cancer. Stransky N, et al. Nat Commun, 2014 Sep 10. PMID 25204415, Free PMC Article
    2. A genome-wide association study for irinotecan-related severe toxicities in patients with advanced non-small-cell lung cancer. Han JY, et al. Pharmacogenomics J, 2013 Oct. PMID 22664479
    3. Wnt signaling and Dupuytren's disease. Dolmans GH, et al. N Engl J Med, 2011 Jul 28. PMID 21732829
    4. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? Nathan JA, et al. EMBO J, 2013 Feb 20. PMID 23314748, Free PMC Article
    5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. Comuzzie AG, et al. PLoS One, 2012. PMID 23251661, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study for irinotecan-related severe toxicities in patients with advanced non-small-cell lung cancer.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Wnt signaling and Dupuytren's disease.
    EBI GWAS Catalog

    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

    • FLJ36872, FLJ37331, DKFZp547E186

    General protein information

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    Preferred Names
    uncharacterized protein C8orf34
    Names
    protein VEST-1
    vestibule-1 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.

    Genomic

    1. NG_055258.1 RefSeqGene

      Range
      5234..493302
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001195639.2 → NP_001182568.1  uncharacterized protein C8orf34 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. The encoded isoform (2) has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC067871, AC090096, AL834454, BC041961, T89089

    2. NM_001349476.1 → NP_001336405.1  uncharacterized protein C8orf34 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter than isoform 1.
      Source sequence(s)
      AC011884, AC067871, AC083967, AC090096, BM684412

    3. NM_001349477.1 → NP_001336406.1  uncharacterized protein C8orf34 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon in the 3' coding region, compared to variant 1. The encoded isoform (4) is shorter than isoform 1.
      Source sequence(s)
      AC011884, AC067871, AC083967, AC090096, BM684412

    4. NM_001349478.1 → NP_001336407.1  uncharacterized protein C8orf34 isoform 5

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate exon in the 5' coding region, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
      Source sequence(s)
      AC011884, AC067871, AC083967, AC090096, BM684412

    5. NM_001349479.1 → NP_001336408.1  uncharacterized protein C8orf34 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) lacks two exons in the 5' and 3' coding regions, compared to variant 1. The encoded isoform (6) is shorter than isoform 1.
      Source sequence(s)
      AC011884, AC067871, AC083967, AC090096, BM684412

    6. NM_001349480.1 → NP_001336409.1  uncharacterized protein C8orf34 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) lacks several exons and includes an alternate 3' terminal exon, compared to variant 1. The encoded isoform (7) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC067871, AC090096, T89089

    7. NM_052958.4 → NP_443190.2  uncharacterized protein C8orf34 isoform 1

      See identical proteins and their annotated locations for NP_443190.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC083967, BC041961, BM684412
      Consensus CDS
      CCDS6203.2
      UniProtKB/Swiss-Prot
      A0A0C4DFS7, A8K5X1, G3XAM6, Q49A92, Q8N1X0, Q8N9M7, Q8ND19, Q96Q28
      Related
      ENSP00000427820.1, ENST00000518698.6

    RNA

    1. NR_146186.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC011884, AC067871, AC083967, AC090096, BM684412

    2. NR_146187.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) lacks an alternate internal exon and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC011884, AC067871, AC083967, AC090096, BM684412

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      68330373..68819023
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421328.1 → XP_047277284.1  uncharacterized protein C8orf34 isoform X1

    2. XM_047421329.1 → XP_047277285.1  uncharacterized protein C8orf34 isoform X2

    3. XM_011517449.3 → XP_011515751.1  uncharacterized protein C8orf34 isoform X3

    4. XM_011517450.3 → XP_011515752.1  uncharacterized protein C8orf34 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      68757073..69245732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359722.1 → XP_054215697.1  uncharacterized protein C8orf34 isoform X1

    2. XM_054359723.1 → XP_054215698.1  uncharacterized protein C8orf34 isoform X2

    3. XM_054359724.1 → XP_054215699.1  uncharacterized protein C8orf34 isoform X3

    4. XM_054359725.1 → XP_054215700.1  uncharacterized protein C8orf34 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q49A92.3 GenPept UniProtKB/Swiss-Prot:Q49A92

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