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CHCHD7 coiled-coil-helix-coiled-coil-helix domain containing 7 [ Homo sapiens (human) ]

Gene ID: 79145, updated on 21-Dec-2019

Summary

Official Symbol
CHCHD7provided by HGNC
Official Full Name
coiled-coil-helix-coiled-coil-helix domain containing 7provided by HGNC
Primary source
HGNC:HGNC:28314
See related
Ensembl:ENSG00000170791 MIM:611238
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
COX23
Expression
Ubiquitous expression in ovary (RPKM 12.4), kidney (RPKM 11.5) and 25 other tissues See more
Orthologs

Genomic context

See CHCHD7 in Genome Data Viewer
Location:
8q12.1
Exon count:
6
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (56211638..56218809)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (57124315..57131178)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene MOS proto-oncogene, serine/threonine kinase Neighboring gene PLAG1 zinc finger Neighboring gene short chain dehydrogenase/reductase family 16C member 5 Neighboring gene short chain dehydrogenase/reductase family 16C member 6, pseudogene

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Identification of ten loci associated with height highlights new biological pathways in human growth.
NHGRI GWA Catalog
Many sequence variants affecting diversity of adult human height.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2217, FLJ40966

Gene Ontology Provided by GOA

Function Evidence Code Pubs
molecular_function ND
No biological Data available
more info
 
Process Evidence Code Pubs
biological_process ND
No biological Data available
more info
 
Component Evidence Code Pubs
cellular_component ND
No biological Data available
more info
 
mitochondrial intermembrane space IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
coiled-coil-helix-coiled-coil-helix domain-containing protein 7
Names
COX23 cytochrome c oxidase assembly 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_001011667.2NP_001011667.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform a

    See identical proteins and their annotated locations for NP_001011667.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) uses an alternate splice site in the 3' coding region, which results in a frameshift and an early stop codon, compared to variant 2. The encoded isoform (a) is shorter and has a distinct C-terminus compared to isoform b.
    Source sequence(s)
    AK095922, AY070434, BX473986, HY130470
    UniProtKB/Swiss-Prot
    Q9BUK0
    Related
    ENSP00000430498.1, ENST00000523532.5
  2. NM_001011668.2NP_001011668.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform b

    See identical proteins and their annotated locations for NP_001011668.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) encodes the longest isoform (b).
    Source sequence(s)
    AK095922, BC002546, BX473986, HY130470
    Consensus CDS
    CCDS34895.1
    UniProtKB/Swiss-Prot
    Q9BUK0
    Related
    ENSP00000306425.3, ENST00000303759.3
    Conserved Domains (1) summary
    cl02794
    Location:2576
    Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
  3. NM_001011669.2NP_001011669.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform c

    See identical proteins and their annotated locations for NP_001011669.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 2. The encoded isoform (c) is shorter and has distinct N- and C-termini compared to isoform b. Both variants 3 and 7 encode the same isoform (c).
    Source sequence(s)
    AK095922, AY070434, BX473986, HY130470
    Consensus CDS
    CCDS55232.1
    UniProtKB/Swiss-Prot
    Q9BUK0
    Related
    ENSP00000428274.1, ENST00000518801.5
  4. NM_001011670.2NP_001011670.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform e

    See identical proteins and their annotated locations for NP_001011670.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) has multiple differences compared to variant 2. The encoded isoform (e) is shorter and has a distinct C-terminus compared to isoform b.
    Source sequence(s)
    AK095922, AY070434, BX473986, HY130470
    Consensus CDS
    CCDS55233.1
    UniProtKB/Swiss-Prot
    Q9BUK0
    Related
    ENSP00000429635.1, ENST00000521831.5
  5. NM_001011671.3NP_001011671.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform f

    See identical proteins and their annotated locations for NP_001011671.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream translation start site compared to variant 2. The encoded isoform (f) has a shorter N-terminus compared to variant 2.
    Source sequence(s)
    AC107952, AK095922, BC002546, BX473986
    Consensus CDS
    CCDS34896.1
    UniProtKB/Swiss-Prot
    Q9BUK0
    Related
    ENSP00000347469.3, ENST00000355315.8
    Conserved Domains (1) summary
    cl02794
    Location:151
    Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
  6. NM_001317858.1NP_001304787.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform c

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) has multiple differences compared to variant 2. The encoded isoform (c) is shorter and has distinct N- and C-termini compared to isoform b. Both variants 3 and 7 encode the same isoform (c).
    Source sequence(s)
    AK095922, BC002546, BI911444, HY130470
    Consensus CDS
    CCDS55232.1
    UniProtKB/Swiss-Prot
    Q9BUK0
    Related
    ENSP00000430458.1, ENST00000521524.5
  7. NM_001317859.1NP_001304788.1  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform g

    Status: VALIDATED

    Description
    Transcript Variant: This variant (12) has multiple differences compared to variant 2. The encoded isoform (g) is shorter and has a distinct C-terminus compared to isoform b.
    Source sequence(s)
    AK095922, BC002546, CN256918, HY130470
    Consensus CDS
    CCDS83294.1
    UniProtKB/Swiss-Prot
    Q9BUK0
    UniProtKB/TrEMBL
    E5RHM5
    Related
    ENSP00000430882.1, ENST00000523061.5
    Conserved Domains (1) summary
    cl02794
    Location:141
    Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...
  8. NM_024300.4NP_077276.2  coiled-coil-helix-coiled-coil-helix domain-containing protein 7 isoform d

    See identical proteins and their annotated locations for NP_077276.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' coding region resulting in a frameshift compared to variant 2. The encoded isoform (d) is shorter and has a distinct N-terminus compared to isoform b.
    Source sequence(s)
    AK095922, BC002546, BX473986, HY130470
    Consensus CDS
    CCDS6166.2
    UniProtKB/Swiss-Prot
    Q9BUK0
    Related
    ENSP00000428917.1, ENST00000523975.5
    Conserved Domains (1) summary
    cl02794
    Location:1263
    Cyt_c_Oxidase_VIb; Cytochrome c oxidase subunit VIb. Cytochrome c oxidase (CcO), the terminal oxidase in the respiratory chains of eukaryotes and most bacteria, is a multi-chain transmembrane protein located in the inner membrane of mitochondria and the cell membrane of ...

RNA

  1. NR_133934.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) uses an alternate splice site in an internal exon and includes an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK095922, BC002546, DA367603, DA431755, HY130470
  2. NR_133935.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) uses an alternate splice site in an internal exon and includes an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK095922, BC002546, DA431755, HY130470
  3. NR_133936.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) includes an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK095922, BC002546, DA988698, HY130470
  4. NR_133937.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (11) uses an alternate splice site in an internal exon and lacks an alternate internal exon compared to variant 2. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AK095922, BC002546, BM695222, HY130470

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    56211638..56218809
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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