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

Gene ID: 116328, updated on 17-Jun-2019

Summary

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
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

Genomic context

See C8orf34 in Genome Data Viewer
Location:
8q13.2
Exon count:
16
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (68330373..68819023)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (69242957..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 LOC105375888 Neighboring gene C8orf34 antisense RNA 1 Neighboring gene ribosomal protein L31 pseudogene 40 Neighboring gene ret finger protein like 4A pseudogene 2 Neighboring gene ribosomal protein S15a pseudogene 25 Neighboring gene RNA, 5S ribosomal pseudogene 269 Neighboring gene uncharacterized LOC107986951 Neighboring gene long intergenic non-protein coding RNA 1592 Neighboring gene 8q13.2-q13.3 proximal HERV-mediated recombination region

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 Apr 4 07:08:55 2018

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ36872, FLJ37331, DKFZp547E186

General protein information

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

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_055258.1 RefSeqGene

    Range
    4652..493302
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001195639.2NP_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_001349476.1NP_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_001349477.1NP_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_001349478.1NP_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_001349479.1NP_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_001349480.1NP_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_052958.4NP_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
    Q49A92
    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: 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.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011517449.2XP_011515751.1  uncharacterized protein C8orf34 isoform X1

  2. XM_011517450.2XP_011515752.1  uncharacterized protein C8orf34 isoform X2

RNA

  1. XR_928756.3 RNA Sequence

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