COX5B cytochrome c oxidase subunit 5B [Homo sapiens (human)] - Gene

Summary

Official Symbol: COX5Bprovided by HGNC
Official Full Name: cytochrome c oxidase subunit 5Bprovided by HGNC
Primary source: HGNC:HGNC:2269
See related: Ensembl:ENSG00000135940 MIM:123866; AllianceGenome:HGNC:2269
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: COXVB
Summary: Cytochrome C oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain. It is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane. The complex consists of 13 mitochondrial- and nuclear-encoded subunits. The mitochondrially-encoded subunits perform the electron transfer and proton pumping activities. The functions of the nuclear-encoded subunits are unknown but they may play a role in the regulation and assembly of the complex. This gene encodes the nuclear-encoded subunit Vb of the human mitochondrial respiratory chain enzyme. [provided by RefSeq, Jul 2008]
Expression: Broad expression in colon (RPKM 200.2), kidney (RPKM 188.7) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q11.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (97646062..97648383)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (98104283..98106604)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (98262525..98264846)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Heart proteomic profiling discovers MYH6 and COX5B as biomarkers for sudden unexplained death.
Title: Heart proteomic profiling discovers MYH6 and COX5B as biomarkers for sudden unexplained death.
Systematic expression analysis of the mitochondrial respiratory chain protein subunits identifies COX5B as a prognostic marker in clear cell renal cell carcinoma.
Title: Systematic expression analysis of the mitochondrial respiratory chain protein subunits identifies COX5B as a prognostic marker in clear cell renal cell carcinoma.
Our results suggest that COX5B protein level might be associated with tumor size. COX5B overexpression indicated a worse DFS (p < 0.05) in breast cancer.
Title: High expression of COX5B is associated with poor prognosis in breast cancer.
These experiments suggest that the FAD group of cytochrome b5 reductase increase its solvent exposition upon complex formation promoting an efficient electron transfer between the proteins.
Title: Topography of human cytochrome b(5)/cytochrome b(5) reductase interacting domain and redox alterations upon complex formation.
silence of COX5B leads to metabolic disorders, such as increased glucose uptake and decreased lactate secretion
Title: Loss of COX5B inhibits proliferation and promotes senescence via mitochondrial dysfunction in breast cancer.
Transfected the A549 cells with COX Vb small interfering or shRNA and observed a significant reduction of their COX activity, oxygen consumption, ATP and ability to grow in soft agar and as poorly differentiated tumors in athymic mice.
Title: Cytochrome c oxidase is activated by the oncoprotein Ras and is required for A549 lung adenocarcinoma growth.
Data show that Bcl-2 expression positively influences the targeting of nuclear-encoded COX Va and Vb to the mitochondria of cancer cells.
Title: Involvement of cytochrome c oxidase subunits Va and Vb in the regulation of cancer cell metabolism by Bcl-2.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

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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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	Tat-induced mitochondrial membrane permeabilization is associated with inhibition of cytochrome c oxidase (COX) activity by Tat in disrupted mitochondria from human samples	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11516 (e-PCR)
- UniSTS:7291

GDB:384878 (e-PCR)
- UniSTS:157114

RH66826 (e-PCR)
- UniSTS:31435

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytochrome-c oxidase activity	TAS Traceable Author Statement more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial electron transport, cytochrome c to oxygen	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial electron transport, cytochrome c to oxygen	NAS Non-traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in respiratory gaseous exchange by respiratory system	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in mitochondrial inner membrane	TAS Traceable Author Statement more info
located_in mitochondrial membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info
part_of respiratory chain complex IV	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cytochrome c oxidase subunit 5B, mitochondrial

Names: cytochrome c oxidase polypeptide VB, mitochondrial; cytochrome c oxidase subunit Vb; epididymis secretory sperm binding protein

NP_001853.2

EC 7.1.1.9

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)

NM_001862.3 → NP_001853.2 cytochrome c oxidase subunit 5B, mitochondrial precursor

See identical proteins and their annotated locations for NP_001853.2

Status: REVIEWED

Source sequence(s)

AC017099, BC006229

Consensus CDS

CCDS2032.1

UniProtKB/Swiss-Prot

P10606, Q53YB7, Q96J18, Q99610

UniProtKB/TrEMBL

A0A384NL93, Q6FHJ9, Q6FHM4

Related

ENSP00000258424.2, ENST00000258424.3

Conserved Domains (1) summary

cd00924
Location:32 → 128

Cyt_c_Oxidase_Vb; Cytochrome c oxidase subunit Vb. 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 ...