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    C8orf33 chromosome 8 open reading frame 33 [ Homo sapiens (human) ]

    Gene ID: 65265, updated on 10-Oct-2024

    Summary

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    Official Symbol
    C8orf33provided by HGNC
    Official Full Name
    chromosome 8 open reading frame 33provided by HGNC
    Primary source
    HGNC:HGNC:26104
    See related
    Ensembl:ENSG00000182307 AllianceGenome:HGNC:26104
    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
    Ubiquitous expression in adrenal (RPKM 26.3), ovary (RPKM 21.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C8orf33 in Genome Data Viewer
    Location:
    8q24.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (145052467..145056030)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (146229380..146234031)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (146277853..146281416)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene endogenous retrovirus group K member 6 Env polyprotein-like Neighboring gene zinc finger with KRAB and SCAN domains 8 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28112 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 28113 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19718 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:146278427-146279227

    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. Differential CFTR-Interactome Proximity Labeling Procedures Identify Enrichment in Multiple SLC Transporters. Chevalier B, et al. Int J Mol Sci, 2022 Aug 11. PMID 36012204, Free PMC Article
    2. Interactome study suggests multiple cellular functions of hepatoma-derived growth factor (HDGF). Zhao J, et al. J Proteomics, 2011 Dec 21. PMID 21907836
    3. MAP4K Interactome Reveals STRN4 as a Key STRIPAK Complex Component in Hippo Pathway Regulation. Seo G, et al. Cell Rep, 2020 Jul 7. PMID 32640226, Free PMC Article
    4. The deubiquitinase USP7 stabilizes Maf proteins to promote myeloma cell survival. He Y, et al. J Biol Chem, 2020 Feb 14. PMID 31822558, Free PMC Article
    5. IKK-Mediated Regulation of the COP9 Signalosome via Phosphorylation of CSN5. Zhang J, et al. J Proteome Res, 2020 Mar 6. PMID 31950832, Free PMC Article

    See all (59) 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

    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

    • FLJ20989

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    UPF0488 protein C8orf33

    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_023080.3 → NP_075568.1  UPF0488 protein C8orf33

      See identical proteins and their annotated locations for NP_075568.1

      Status: VALIDATED

      Source sequence(s)
      BC010001, DA467518
      Consensus CDS
      CCDS34974.1
      UniProtKB/Swiss-Prot
      A6NGC0, Q96BT8, Q9H7E9
      UniProtKB/TrEMBL
      A0A3B3IRR6
      Related
      ENSP00000330361.6, ENST00000331434.7
      Conserved Domains (1) summary
      pfam15393
      Location:116 → 228
      DUF4615; Domain of unknown function (DUF4615)

    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
      145052467..145056030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791783.1 Reference GRCh38.p14 PATCHES

      Range
      9908..13471
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      146229380..146234031
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361025.1 → XP_054217000.1  UPF0488 protein C8orf33 isoform X1

      UniProtKB/Swiss-Prot
      A6NGC0, Q96BT8, Q9H7E9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H7E9.1 GenPept UniProtKB/Swiss-Prot:Q9H7E9

    Gene LinkOut

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

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