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CHCHD5 coiled-coil-helix-coiled-coil-helix domain containing 5 [ Homo sapiens (human) ]

Gene ID: 84269, updated on 7-Jun-2020

Summary

Official Symbol
CHCHD5provided by HGNC
Official Full Name
coiled-coil-helix-coiled-coil-helix domain containing 5provided by HGNC
Primary source
HGNC:HGNC:17840
See related
Ensembl:ENSG00000125611 MIM:616978
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
CHTM1; MIC14; MIX14; C2orf9
Expression
Ubiquitous expression in testis (RPKM 3.7), kidney (RPKM 2.9) and 25 other tissues See more
Orthologs

Genomic context

See CHCHD5 in Genome Data Viewer
Location:
2q14.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (112584447..112589040)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (113342023..113346617)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tubulin tyrosine ligase Neighboring gene uncharacterized LOC105373562 Neighboring gene RNA polymerase I subunit B Neighboring gene uncharacterized LOC101927330 Neighboring gene uncharacterized LOC107985934 Neighboring gene ribosomal protein S20 pseudogene 11

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

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ39671, MGC11104

Gene Ontology Provided by GOA

Component Evidence Code Pubs
mitochondrial intermembrane space IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
coiled-coil-helix-coiled-coil-helix domain-containing protein 5
Names
mitochondrial intermembrane space cysteine motif protein of 14 kDa homolog

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.

mRNA and Protein(s)

  1. NM_001304353.2NP_001291282.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform b

    See identical proteins and their annotated locations for NP_001291282.1

    Status: VALIDATED

    Source sequence(s)
    AC012442
    Conserved Domains (1) summary
    pfam06747
    Location:2054
    CHCH; CHCH domain
  2. NM_001304354.2NP_001291283.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform b

    See identical proteins and their annotated locations for NP_001291283.1

    Status: VALIDATED

    Source sequence(s)
    AC012442, BM563093
    Related
    ENST00000469030.1
    Conserved Domains (1) summary
    pfam06747
    Location:2054
    CHCH; CHCH domain
  3. NM_001371322.1NP_001358251.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC012442
  4. NM_001371323.1NP_001358252.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC012442
  5. NM_032309.4NP_115685.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform a

    See identical proteins and their annotated locations for NP_115685.1

    Status: VALIDATED

    Source sequence(s)
    AC012442, BC004498, HY011716
    Consensus CDS
    CCDS2098.1
    UniProtKB/Swiss-Prot
    Q9BSY4
    Related
    ENSP00000325655.5, ENST00000324913.9
    Conserved Domains (2) summary
    pfam06747
    Location:5892
    CHCH; CHCH domain
    pfam16860
    Location:849
    CX9C; CHCH-CHCH-like Cx9C, IMS import disulfide relay-system,

RNA

  1. NR_163920.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC012442

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    112584447..112589040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005263824.4XP_005263881.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 5 isoform X1

    See identical proteins and their annotated locations for XP_005263881.1

    UniProtKB/Swiss-Prot
    Q9BSY4
    Related
    ENSP00000386994.1, ENST00000409719.1
    Conserved Domains (2) summary
    pfam06747
    Location:5892
    CHCH; CHCH domain
    pfam16860
    Location:849
    CX9C; CHCH-CHCH-like Cx9C, IMS import disulfide relay-system,
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