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    C5orf34 chromosome 5 open reading frame 34 [ Homo sapiens (human) ]

    Gene ID: 375444, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C5orf34provided by HGNC
    Official Full Name
    chromosome 5 open reading frame 34provided by HGNC
    Primary source
    HGNC:HGNC:24738
    See related
    Ensembl:ENSG00000172244 AllianceGenome:HGNC:24738
    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
    Expression
    Broad expression in testis (RPKM 1.9), lymph node (RPKM 1.1) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C5orf34 in Genome Data Viewer
    Location:
    5p12
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (43486709..43515148, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (43739532..43767935, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (43486811..43515250, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene C-C motif chemokine ligand 28 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22538 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15993 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15994 Neighboring gene Sharpr-MPRA regulatory region 10963 Neighboring gene transmembrane protein 267 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:43483998-43484841 Neighboring gene C5orf34 antisense RNA 1 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_85282 Neighboring gene eukaryotic translation elongation factor 1 alpha 1 pseudogene 19 Neighboring gene uncharacterized LOC124900190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22540 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:43521939-43522548 Neighboring gene poly(A) binding protein interacting protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15995 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr5:43580594-43581340 Neighboring gene NNT antisense RNA 1 Neighboring gene adenosylmethionine decarboxylase 1 pseudogene 3

    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. Comprehensive pan-cancer analysis reveals that C5orf34 regulates the proliferation and mortality of lung cancer. Yang M, et al. Funct Integr Genomics, 2024 Jun 29. PMID 38951221
    2. Integration of genomics and transcriptomics highlights the crucial role of chromosome 5 open reading frame 34 in various human malignancies. Li Y, et al. Aging (Albany NY), 2023 Dec 7. PMID 38078888, Free PMC Article
    3. Up-regulation of C5orf34 promotes lung adenocarcinoma migration and is correlated with worse prognosis. He D, et al. Gene, 2019 May 15. PMID 30771479
    4. Comprehensive interactome profiling of the human Hsp70 network highlights functional differentiation of J domains. Piette BL, et al. Mol Cell, 2021 Jun 17. PMID 33957083
    5. USP9X deubiquitinates and stabilizes CDC123 to promote breast carcinogenesis through regulating cell cycle. Song N, et al. Mol Carcinog, 2023 Oct. PMID 37314216

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Comprehensive pan-cancer analysis reveals that C5orf34 regulates the proliferation and mortality of lung cancer.
      Title: Comprehensive pan-cancer analysis reveals that C5orf34 regulates the proliferation and mortality of lung cancer.
    2. Integration of genomics and transcriptomics highlights the crucial role of chromosome 5 open reading frame 34 in various human malignancies.
      Title: Integration of genomics and transcriptomics highlights the crucial role of chromosome 5 open reading frame 34 in various human malignancies.
    3. Study results firstly revealed that C5orf34 might play a facilitating role in lung adenocarcinoma (LAD) development and progression by regulating MAPK signaling pathway. Furthermore, data implied that C5orf34 may be a potential predictor and treatment target for LAD.
      Title: Up-regulation of C5orf34 promotes lung adenocarcinoma migration and is correlated with worse prognosis.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • FLJ32363, MGC46448

    General protein information

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    Preferred Names
    uncharacterized protein C5orf34

    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_198566.4 → NP_940968.1  uncharacterized protein C5orf34

      See identical proteins and their annotated locations for NP_940968.1

      Status: VALIDATED

      Source sequence(s)
      AK056925, BC036867, DB453004
      Consensus CDS
      CCDS3946.1
      UniProtKB/Swiss-Prot
      Q96MH7
      Related
      ENSP00000303490.2, ENST00000306862.7
      Conserved Domains (2) summary
      pfam15016
      Location:451 → 538
      DUF4520; Domain of unknown function (DUF4520)
      pfam15025
      Location:7 → 151
      DUF4524; Domain of unknown function (DUF4524)

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      43486709..43515148 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009446.2 → XP_016864935.1  uncharacterized protein C5orf34 isoform X2

    2. XM_017009445.2 → XP_016864934.1  uncharacterized protein C5orf34 isoform X2

    3. XM_011514038.4 → XP_011512340.1  uncharacterized protein C5orf34 isoform X1

      Conserved Domains (2) summary
      pfam15016
      Location:451 → 538
      DUF4520; Domain of unknown function (DUF4520)
      pfam15025
      Location:7 → 151
      DUF4524; Domain of unknown function (DUF4524)

    4. XM_047417156.1 → XP_047273112.1  uncharacterized protein C5orf34 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      43739532..43767935 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352534.1 → XP_054208509.1  uncharacterized protein C5orf34 isoform X1

    2. XM_054352535.1 → XP_054208510.1  uncharacterized protein C5orf34 isoform X2

    3. XM_054352536.1 → XP_054208511.1  uncharacterized protein C5orf34 isoform X2

    4. XM_054352533.1 → XP_054208508.1  uncharacterized protein C5orf34 isoform X4

      UniProtKB/Swiss-Prot
      Q96MH7

    5. XM_054352537.1 → XP_054208512.1  uncharacterized protein C5orf34 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96MH7.3 GenPept UniProtKB/Swiss-Prot:Q96MH7

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