Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.

Q86WW8

- COA5_HUMAN

UniProt

Q86WW8 - COA5_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Cytochrome c oxidase assembly factor 5

Gene

COA5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Functioni

Involved in an early step of the mitochondrial complex IV assembly process.1 Publication

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome c oxidase assembly factor 5
Gene namesi
Name:COA5
Synonyms:C2orf64
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:33848. COA5.

Subcellular locationi

GO - Cellular componenti

  1. mitochondrion Source: HPA
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, exercise intolerance, developmental delay, delayed motor development and mental retardation. Some affected individuals manifest a fatal hypertrophic cardiomyopathy resulting in neonatal death. A subset of patients manifest Leigh syndrome.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531A → P in MT-C4D. 1 Publication
VAR_065499

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi220110. phenotype.
Orphaneti254905. Isolated cytochrome C oxidase deficiency.
70474. Leigh syndrome with cardiomyopathy.
PharmGKBiPA162379390.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 7474Cytochrome c oxidase assembly factor 5PRO_0000325876Add
BLAST

Proteomic databases

MaxQBiQ86WW8.
PaxDbiQ86WW8.
PeptideAtlasiQ86WW8.
PRIDEiQ86WW8.

Expressioni

Gene expression databases

BgeeiQ86WW8.
CleanExiHS_C2orf64.
ExpressionAtlasiQ86WW8. baseline and differential.
GenevestigatoriQ86WW8.

Organism-specific databases

HPAiHPA049563.
HPA057768.

Interactioni

Protein-protein interaction databases

BioGridi138902. 1 interaction.
IntActiQ86WW8. 1 interaction.
MINTiMINT-4786653.

Structurei

3D structure databases

ProteinModelPortaliQ86WW8.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the PET191 family.Curated

Phylogenomic databases

eggNOGiNOG284465.
GeneTreeiENSGT00390000005548.
HOVERGENiHBG107093.
InParanoidiQ86WW8.
KOiK18178.
OMAiNTFFECK.
PhylomeDBiQ86WW8.
TreeFamiTF313953.

Family and domain databases

InterProiIPR018793. Cyt_c_oxidase_assmbl_Pet191.
[Graphical view]
PfamiPF10203. Pet191_N. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q86WW8-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MPKYYEDKPQ GGACAGLKED LGACLLQSDC VVQEGKSPRQ CLKEGYCNSL
60 70
KYAFFECKRS VLDNRARFRG RKGY
Length:74
Mass (Da):8,376
Last modified:June 1, 2003 - v1
Checksum:iCE4D3FF94332B2A9
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti53 – 531A → P in MT-C4D. 1 Publication
VAR_065499

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC010134 Genomic DNA. Translation: AAX93231.1.
CH471127 Genomic DNA. Translation: EAX01903.1.
BC047722 mRNA. Translation: AAH47722.1.
CCDSiCCDS33257.1.
RefSeqiNP_001008216.1. NM_001008215.2.
UniGeneiHs.596537.

Genome annotation databases

EnsembliENST00000328709; ENSP00000330730; ENSG00000183513.
GeneIDi493753.
KEGGihsa:493753.
UCSCiuc002syz.3. human.

Polymorphism databases

DMDMi74727729.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AC010134 Genomic DNA. Translation: AAX93231.1 .
CH471127 Genomic DNA. Translation: EAX01903.1 .
BC047722 mRNA. Translation: AAH47722.1 .
CCDSi CCDS33257.1.
RefSeqi NP_001008216.1. NM_001008215.2.
UniGenei Hs.596537.

3D structure databases

ProteinModelPortali Q86WW8.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 138902. 1 interaction.
IntActi Q86WW8. 1 interaction.
MINTi MINT-4786653.

Polymorphism databases

DMDMi 74727729.

Proteomic databases

MaxQBi Q86WW8.
PaxDbi Q86WW8.
PeptideAtlasi Q86WW8.
PRIDEi Q86WW8.

Protocols and materials databases

DNASUi 493753.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000328709 ; ENSP00000330730 ; ENSG00000183513 .
GeneIDi 493753.
KEGGi hsa:493753.
UCSCi uc002syz.3. human.

Organism-specific databases

CTDi 493753.
GeneCardsi GC02M099216.
HGNCi HGNC:33848. COA5.
HPAi HPA049563.
HPA057768.
MIMi 220110. phenotype.
613920. gene.
neXtProti NX_Q86WW8.
Orphaneti 254905. Isolated cytochrome C oxidase deficiency.
70474. Leigh syndrome with cardiomyopathy.
PharmGKBi PA162379390.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG284465.
GeneTreei ENSGT00390000005548.
HOVERGENi HBG107093.
InParanoidi Q86WW8.
KOi K18178.
OMAi NTFFECK.
PhylomeDBi Q86WW8.
TreeFami TF313953.

Miscellaneous databases

GenomeRNAii 493753.
NextBioi 111737.
PROi Q86WW8.
SOURCEi Search...

Gene expression databases

Bgeei Q86WW8.
CleanExi HS_C2orf64.
ExpressionAtlasi Q86WW8. baseline and differential.
Genevestigatori Q86WW8.

Family and domain databases

InterProi IPR018793. Cyt_c_oxidase_assmbl_Pet191.
[Graphical view ]
Pfami PF10203. Pet191_N. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Pancreas.
  4. Cited for: VARIANT MT-C4D PRO-53, FUNCTION.

Entry informationi

Entry nameiCOA5_HUMAN
AccessioniPrimary (citable) accession number: Q86WW8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 18, 2008
Last sequence update: June 1, 2003
Last modified: October 29, 2014
This is version 81 of the entry and version 1 of the sequence. [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, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3