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    C5orf63 chromosome 5 open reading frame 63 [ Homo sapiens (human) ]

    Gene ID: 401207, updated on 2-Nov-2024

    Summary

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    Official Symbol
    C5orf63provided by HGNC
    Official Full Name
    chromosome 5 open reading frame 63provided by HGNC
    Primary source
    HGNC:HGNC:40051
    See related
    Ensembl:ENSG00000164241 AllianceGenome:HGNC:40051
    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
    YDR286C
    Summary
    Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 1.4), lymph node (RPKM 0.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C5orf63 in Genome Data Viewer
    Location:
    5q23.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (127042562..127073502, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (127562642..127593579, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (126378254..126409194, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:126211055-126211554 Neighboring gene membrane associated ring-CH-type finger 3 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:126231155-126231764 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23029 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23030 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23031 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23032 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:126366588-126367132 Neighboring gene uncharacterized LOC105379163 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:126376473-126377316 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16290 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:126412476-126413058 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:126415384-126416305 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:126431231-126431730 Neighboring gene NANOG hESC enhancer GRCh37_chr5:126432239-126432781 Neighboring gene mitochondrial ribosomal protein S5 pseudogene 3 Neighboring gene RNA-binding protein 15-like Neighboring gene selenoprotein T pseudogene 2

    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. A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. Martin TD, et al. Cell Rep, 2017 Jul 11. PMID 28700943, Free PMC Article
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    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)

    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

    • FLJ44606

    General protein information

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    Preferred Names
    glutaredoxin-like protein C5orf63
    Names
    glutaredoxin-like protein YDR286C homolog

    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_001164478.2 → NP_001157950.1  glutaredoxin-like protein C5orf63 isoform 2

      See identical proteins and their annotated locations for NP_001157950.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 3' exon with a distinct 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (2) has a distinct and shorter C-terminus, compared to isoform 1.
      Source sequence(s)
      AC005915
      Consensus CDS
      CCDS54896.1
      UniProtKB/Swiss-Prot
      A6NC05
      Related
      ENSP00000453964.1, ENST00000296662.10
      Conserved Domains (1) summary
      pfam05768
      Location:33 → 106
      DUF836; Glutaredoxin-like domain (DUF836)

    2. NM_001164479.2 → NP_001157951.1  glutaredoxin-like protein C5orf63 isoform 1

      See identical proteins and their annotated locations for NP_001157951.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1)
      Source sequence(s)
      AC004507, AC005915, BQ269742, DA507232
      Consensus CDS
      CCDS54895.1
      UniProtKB/Swiss-Prot
      A6NC05, G3V557
      Related
      ENSP00000454153.1, ENST00000535381.6
      Conserved Domains (1) summary
      cl00388
      Location:33 → 60
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    3. NM_001388304.1 → NP_001375233.1  glutaredoxin-like protein C5orf63 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC005915
      Consensus CDS
      CCDS93776.1
      UniProtKB/TrEMBL
      A0A8C8V477
      Related
      ENSP00000475810.2, ENST00000606937.6
      Conserved Domains (1) summary
      cl00388
      Location:33 → 76
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    4. NM_001388305.1 → NP_001375234.1  glutaredoxin-like protein C5orf63 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC005915
      Consensus CDS
      CCDS93775.1
      UniProtKB/TrEMBL
      U3KQR4
      Related
      ENSP00000476160.1, ENST00000607731.5
      Conserved Domains (1) summary
      cl00388
      Location:33 → 53
      Thioredoxin_like; Protein Disulfide Oxidoreductases and Other Proteins with a Thioredoxin fold

    RNA

    1. NR_170930.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004507, AC005915

    2. NR_170931.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC004507, AC005915

    3. NR_170932.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005915

    4. NR_170933.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005915

    5. NR_170934.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC005915

    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
      127042562..127073502 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_007058603.1 RNA Sequence

    2. XR_007058602.1 RNA Sequence

    3. XR_007058601.1 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      127562642..127593579 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_008487118.1 RNA Sequence

    2. XR_008487117.1 RNA Sequence

    3. XR_008487116.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NC05.3 GenPept UniProtKB/Swiss-Prot:A6NC05

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

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