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Protein

Cytochrome c oxidase subunit 7B, mitochondrial

Gene

COX7B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Plays a role in proper central nervous system (CNS) development in vertebrates.1 Publication

GO - Molecular functioni

  • cytochrome-c oxidase activity Source: ProtInc

GO - Biological processi

  • central nervous system development Source: UniProtKB

Enzyme and pathway databases

ReactomeiR-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-611105 Respiratory electron transport

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome c oxidase subunit 7B, mitochondrial
Alternative name(s):
Cytochrome c oxidase polypeptide VIIb
Gene namesi
Name:COX7B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000131174.4
HGNCiHGNC:2291 COX7B
MIMi300885 gene
neXtProtiNX_P24311

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini25 – 32Mitochondrial matrixBy similarity8
Transmembranei33 – 59HelicalBy similarityAdd BLAST27
Topological domaini60 – 80Mitochondrial intermembraneBy similarityAdd BLAST21

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Linear skin defects with multiple congenital anomalies 2 (LSDMCA2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities.
See also OMIM:300887

Organism-specific databases

DisGeNETi1349
MalaCardsiCOX7B
MIMi300887 phenotype
OpenTargetsiENSG00000131174
Orphaneti2556 Microphthalmia with linear skin defects syndrome
PharmGKBiPA26809

Chemistry databases

DrugBankiDB02659 Cholic Acid
DB04464 N-Formylmethionine

Polymorphism and mutation databases

BioMutaiCOX7B
DMDMi461804

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 24Mitochondrion1 PublicationAdd BLAST24
ChainiPRO_000000615825 – 80Cytochrome c oxidase subunit 7B, mitochondrialAdd BLAST56

Proteomic databases

EPDiP24311
MaxQBiP24311
PaxDbiP24311
PeptideAtlasiP24311
PRIDEiP24311
ProteomicsDBi54196
TopDownProteomicsiP24311

PTM databases

iPTMnetiP24311
PhosphoSitePlusiP24311

Expressioni

Gene expression databases

BgeeiENSG00000131174 Expressed in 242 organ(s), highest expression level in myocardium
CleanExiHS_COX7B
GenevisibleiP24311 HS

Organism-specific databases

HPAiHPA058041

Interactioni

Protein-protein interaction databases

BioGridi107742, 1 interactor
IntActiP24311, 4 interactors
STRINGi9606.ENSP00000417656

Structurei

3D structure databases

ProteinModelPortaliP24311
SMRiP24311
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome c oxidase VIIb family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410J3GK Eukaryota
ENOG4112BN9 LUCA
GeneTreeiENSGT00390000012178
HOGENOMiHOG000059529
HOVERGENiHBG051092
InParanoidiP24311
KOiK02271
OMAiAVWAYTA
OrthoDBiEOG091G1342
PhylomeDBiP24311
TreeFamiTF105068

Family and domain databases

CDDicd01403 Cyt_c_Oxidase_VIIb, 1 hit
Gene3Di4.10.51.10, 1 hit
InterProiView protein in InterPro
IPR008433 Cyt_c_oxidase_suVIIB
IPR023272 Cyt_c_oxidase_suVIIB_dom_sf
PANTHERiPTHR16716 PTHR16716, 1 hit
PfamiView protein in Pfam
PF05392 COX7B, 1 hit
SUPFAMiSSF81423 SSF81423, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P24311-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MFPLVKSALN RLQVRSIQQT MARQSHQKRT PDFHDKYGNA VLASGATFCI
60 70 80
VTWTYVATQV GIEWNLSPVG RVTPKEWRNQ
Length:80
Mass (Da):9,161
Last modified:February 1, 1994 - v2
Checksum:i1EE75BD1AA253E59
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti29R → P AA sequence (PubMed:1309697).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z14244 mRNA Translation: CAA78613.1
BT009767 mRNA Translation: AAP88769.1
CR450332 mRNA Translation: CAG29328.1
CR542124 mRNA Translation: CAG46921.1
AK311879 mRNA Translation: BAG34820.1
AL356235 Genomic DNA No translation available.
CH471104 Genomic DNA Translation: EAW98607.1
BC018386 mRNA Translation: AAH18386.1
CCDSiCCDS14437.1
PIRiS29856 OSHU7B
RefSeqiNP_001857.1, NM_001866.2
UniGeneiHs.522699

Genome annotation databases

EnsembliENST00000481445; ENSP00000417656; ENSG00000131174
GeneIDi1349
KEGGihsa:1349
UCSCiuc004ecu.2 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z14244 mRNA Translation: CAA78613.1
BT009767 mRNA Translation: AAP88769.1
CR450332 mRNA Translation: CAG29328.1
CR542124 mRNA Translation: CAG46921.1
AK311879 mRNA Translation: BAG34820.1
AL356235 Genomic DNA No translation available.
CH471104 Genomic DNA Translation: EAW98607.1
BC018386 mRNA Translation: AAH18386.1
CCDSiCCDS14437.1
PIRiS29856 OSHU7B
RefSeqiNP_001857.1, NM_001866.2
UniGeneiHs.522699

3D structure databases

ProteinModelPortaliP24311
SMRiP24311
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107742, 1 interactor
IntActiP24311, 4 interactors
STRINGi9606.ENSP00000417656

Chemistry databases

DrugBankiDB02659 Cholic Acid
DB04464 N-Formylmethionine

PTM databases

iPTMnetiP24311
PhosphoSitePlusiP24311

Polymorphism and mutation databases

BioMutaiCOX7B
DMDMi461804

Proteomic databases

EPDiP24311
MaxQBiP24311
PaxDbiP24311
PeptideAtlasiP24311
PRIDEiP24311
ProteomicsDBi54196
TopDownProteomicsiP24311

Protocols and materials databases

DNASUi1349
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000481445; ENSP00000417656; ENSG00000131174
GeneIDi1349
KEGGihsa:1349
UCSCiuc004ecu.2 human

Organism-specific databases

CTDi1349
DisGeNETi1349
EuPathDBiHostDB:ENSG00000131174.4
GeneCardsiCOX7B
HGNCiHGNC:2291 COX7B
HPAiHPA058041
MalaCardsiCOX7B
MIMi300885 gene
300887 phenotype
neXtProtiNX_P24311
OpenTargetsiENSG00000131174
Orphaneti2556 Microphthalmia with linear skin defects syndrome
PharmGKBiPA26809
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410J3GK Eukaryota
ENOG4112BN9 LUCA
GeneTreeiENSGT00390000012178
HOGENOMiHOG000059529
HOVERGENiHBG051092
InParanoidiP24311
KOiK02271
OMAiAVWAYTA
OrthoDBiEOG091G1342
PhylomeDBiP24311
TreeFamiTF105068

Enzyme and pathway databases

ReactomeiR-HSA-5628897 TP53 Regulates Metabolic Genes
R-HSA-611105 Respiratory electron transport

Miscellaneous databases

ChiTaRSiCOX7B human
GeneWikiiCOX7B
GenomeRNAii1349
PROiPR:P24311
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000131174 Expressed in 242 organ(s), highest expression level in myocardium
CleanExiHS_COX7B
GenevisibleiP24311 HS

Family and domain databases

CDDicd01403 Cyt_c_Oxidase_VIIb, 1 hit
Gene3Di4.10.51.10, 1 hit
InterProiView protein in InterPro
IPR008433 Cyt_c_oxidase_suVIIB
IPR023272 Cyt_c_oxidase_suVIIB_dom_sf
PANTHERiPTHR16716 PTHR16716, 1 hit
PfamiView protein in Pfam
PF05392 COX7B, 1 hit
SUPFAMiSSF81423 SSF81423, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCOX7B_HUMAN
AccessioniPrimary (citable) accession number: P24311
Secondary accession number(s): B2R4M3, Q6ICR1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: February 1, 1994
Last modified: November 7, 2018
This is version 159 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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