COX7B cytochrome c oxidase subunit 7B [Homo sapiens (human)] - Gene

Summary

Official Symbol: COX7Bprovided by HGNC
Official Full Name: cytochrome c oxidase subunit 7Bprovided by HGNC
Primary source: HGNC:HGNC:2291
See related: Ensembl:ENSG00000131174 MIM:300885; AllianceGenome:HGNC:2291
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: APLCC; LSDMCA2
Summary: Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes subunit VIIb, which is highly similar to bovine COX VIIb protein and is found in all tissues. This gene may have several pseudogenes on chromosomes 1, 2, 20 and 22. [provided by RefSeq, Jun 2011]
Expression: Ubiquitous expression in heart (RPKM 234.2), kidney (RPKM 174.2) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: Xq21.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	X	NC_000023.11 (77899468..77907376)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	X	NC_060947.1 (76334526..76342432)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	X	NC_000023.10 (77154965..77162873)

Chromosome X - NC_000023.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

Our results offer a new transcriptome landscape of platinum-resistance that provides valuable insights into chemosensitivity and drug resistance in cancers, and we identify a novel platinum resistance gene, COX7B, and a surrogate marker, CD63.
Title: Single-cell RNA-seq analysis reveals the platinum resistance gene COX7B and the surrogate marker CD63.
Data indicate that recombinant (r)IL-24 stimulated the mitochondrial apoptotic pathway genes Bax, Bid, Casp8, COX6C, COX7B after 36 h.
Title: Interleukin-24 mediates apoptosis in human B-cells through early activation of cell cycle arrest followed by late induction of the mitochondrial apoptosis pathway.
study analyzed the X-linked COX7B and found deleterious de novo mutations in two simplex cases of microphthalmia with linear skin lesions and a nonsense mutation, which segregates with the disease, in a familial case
Title: Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.
Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 7b
Title: Novel insights into the assembly and function of human nuclear-encoded cytochrome c oxidase subunits 4, 5a, 6a, 7a and 7b.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Linear skin defects with multiple congenital anomalies 1 MedGen: C0796070 OMIM: 309801 GeneReviews: Microphthalmia with Linear Skin Defects Syndrome	not available
Linear skin defects with multiple congenital anomalies 2 MedGen: C3550921 OMIM: 300887 GeneReviews: Microphthalmia with Linear Skin Defects Syndrome	not available

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytochrome-c oxidase activity	TAS Traceable Author Statement more info	PubMed
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 central nervous system development	IMP Inferred from Mutant Phenotype more info	PubMed
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

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
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
part_of respiratory chain complex IV	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: cytochrome c oxidase subunit 7B, mitochondrial

Names: cytochrome c oxidase polypeptide VIIb; cytochrome c oxidase subunit VIIb; cytochrome-c oxidase chain VIIb

NP_001857.1

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.