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    C5orf46 chromosome 5 open reading frame 46 [ Homo sapiens (human) ]

    Gene ID: 389336, updated on 27-Nov-2024

    Summary

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    Official Symbol
    C5orf46provided by HGNC
    Official Full Name
    chromosome 5 open reading frame 46provided by HGNC
    Primary source
    HGNC:HGNC:33768
    See related
    Ensembl:ENSG00000178776 AllianceGenome:HGNC:33768
    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
    AP-64; SSSP1
    Summary
    Located in extracellular exosome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in salivary gland (RPKM 5.3), skin (RPKM 3.8) and 2 other tissues See more
    Orthologs
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    Genomic context

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    See C5orf46 in Genome Data Viewer
    Location:
    5q32
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (147885885..147906538, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (148421588..148442241, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (147272285..147286101, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene formyl peptide receptor 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147244599-147245140 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:147247772-147248437 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147248438-147249104 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147249105-147249771 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147249772-147250438 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147253107-147253772 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:147253773-147254440 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:147254441-147255106 Neighboring gene secretoglobin family 3A member 2 Neighboring gene eukaryotic translation elongation factor 1 gamma pseudogene 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:147325894-147326466 Neighboring gene uncharacterized LOC124901185 Neighboring gene serine peptidase inhibitor Kazal type 5

    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. AP-64, Encoded by C5orf46, Exhibits Antimicrobial Activity against Gram-Negative Bacteria. Zhong K, et al. Biomolecules, 2021 Mar 24. PMID 33804835, Free PMC Article
    2. Small-protein Enrichment Assay Enables the Rapid, Unbiased Analysis of Over 100 Low Abundance Factors from Human Plasma. Harney DJ, et al. Mol Cell Proteomics, 2019 Sep. PMID 31308252, Free PMC Article
    3. Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). Gonzalez-Begne M, et al. J Proteome Res, 2009 Mar. PMID 19199708, Free PMC Article
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. Clark HF, et al. Genome Res, 2003 Oct. PMID 12975309, Free PMC Article
    5. Systematic mapping of genetic interactions for de novo fatty acid synthesis identifies C12orf49 as a regulator of lipid metabolism. Aregger M, et al. Nat Metab, 2020 Jun. PMID 32694731, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    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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    Markers

    Homology

    Clone Names

    • MGC23985

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    uncharacterized protein C5orf46
    Names
    CTC-327F10.5
    skin and saliva secreted protein 1

    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_206966.3 → NP_996849.2  uncharacterized protein C5orf46 precursor

      See identical proteins and their annotated locations for NP_996849.2

      Status: VALIDATED

      Source sequence(s)
      AC011352, AY358656
      Consensus CDS
      CCDS34267.1
      UniProtKB/Swiss-Prot
      A8K038, Q6UWT4, Q8WU04
      Related
      ENSP00000315370.4, ENST00000318315.5
      Conserved Domains (1) summary
      pfam15144
      Location:1 → 87
      DUF4576; Domain of unknown function (DUF4576)

    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
      147885885..147906538 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268446.4 → XP_005268503.3  uncharacterized protein C5orf46 isoform X1

      UniProtKB/Swiss-Prot
      A8K038, Q6UWT4, Q8WU04

    2. XM_047417169.1 → XP_047273125.1  uncharacterized protein C5orf46 isoform X1

      UniProtKB/Swiss-Prot
      A8K038, Q6UWT4, Q8WU04

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      148421588..148442241 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352568.1 → XP_054208543.1  uncharacterized protein C5orf46 isoform X1

      UniProtKB/Swiss-Prot
      A8K038, Q6UWT4, Q8WU04
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6UWT4.2 GenPept UniProtKB/Swiss-Prot:Q6UWT4

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