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COA8
HPA
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  • SUMMARY

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  • COA8
PROTEIN SUMMARY GENE INFORMATION RNA DATA
GENERAL INFORMATIONi

General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.

Gene namei

Official gene symbol, which is typically a short form of the gene name, according to HGNC.

COA8
Synonyms APOP-1, APOPT1, C14orf153, MGC2562
Gene descriptioni

Full gene name according to HGNC.

Cytochrome c oxidase assembly factor 8
Protein classi

Assigned HPA protein class(es) for the encoded protein(s).

Disease related genes
Human disease related genes
Predicted locationi

All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.

  • Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.

  • Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).

The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.

Intracellular
Protein evidence Evidence at protein level (all genes)
GENE INFORMATIONi

Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.

Chromosome 14
Cytoband q32.33
Chromosome location (bp) 103562960 - 103607523
Number of transcriptsi

Number of protein-coding transcripts from the gene as defined by Ensembl.

9
Ensembl ENSG00000256053 (version 109)
Entrez gene 84334
HGNC HGNC:20492
UniProt Q96IL0 (UniProt - Evidence at protein level)
neXtProt NX_Q96IL0
GeneCards COA8
Antibodypedia COA8 antibodies


PROTEIN FUNCTION
Protein function (UniProt)i

Useful information about the protein provided by UniProt.

Required for cytochrome c complex (COX) IV assembly and function Protects COX assembly from oxidation-induced degradation, COX being the terminal component of the mitochondrial respiratory chain.... show less
Biological process (UniProt)i

Keywords assigned by UniProt to proteins because they are involved in a particular biological process.

Apoptosis
Gene summary (Entrez)i

Useful information about the gene from Entrez

This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]... show less
PROTEIN INFORMATIONi

The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.

The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.

The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.

The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Splice variant SwissProt TrEMBL Protein class Gene ontology Length & mass Signal peptide
(predicted)
Transmembrane regions
(predicted)
COA8-201
ENSP00000386485
ENST00000409074
A0A6Q8JUI0
[Direct mapping] Cytochrome c oxidase assembly factor 8
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
Show all
GO:0000302 [response to reactive oxygen species]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0016020 [membrane]
GO:0033617 [mitochondrial cytochrome c oxidase assembly]
GO:0050821 [protein stabilization]
GO:0097193 [intrinsic apoptotic signaling pathway]
GO:1904960 [positive regulation of cytochrome-c oxidase activity]
Show all
193 aa
22.9 kDa
No 0
COA8-204
ENSP00000489380
ENST00000473127
A0A0U1RQS9
[Direct mapping] Cytochrome c oxidase assembly factor 8
Show all
   Phobius predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
Show all
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0016020 [membrane]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
55 aa
7 kDa
No 0
COA8-206
ENSP00000489047
ENST00000476323
A0A0U1RQK3
[Direct mapping] Cytochrome c oxidase assembly factor 8
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
Show all
76 aa
8.9 kDa
No 0
COA8-207
ENSP00000489152
ENST00000477116
A0A0U1RQS9
[Direct mapping] Cytochrome c oxidase assembly factor 8
Show all
   Phobius predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
Show all
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0016020 [membrane]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
55 aa
7 kDa
No 0
COA8-209
ENSP00000489557
ENST00000492189
A0A0U1RQS9
[Direct mapping] Cytochrome c oxidase assembly factor 8
Show all
   Phobius predicted membrane proteins
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
Show all
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0016020 [membrane]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
55 aa
7 kDa
No 0
COA8-210
ENSP00000451703
ENST00000495778
H0YJK3
[Direct mapping] Cytochrome c oxidase assembly factor 8
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
Show all
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0016020 [membrane]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
108 aa
12.6 kDa
No 0
COA8-213
ENSP00000489308
ENST00000554876
A0A0U1RR29
[Direct mapping] Cytochrome c oxidase assembly factor 8
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
Show all
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0016020 [membrane]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
132 aa
15.4 kDa
No 0
COA8-215
ENSP00000451874
ENST00000556253
G3V4L6
[Direct mapping] Cytochrome c oxidase assembly factor 8
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
Show all
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0016020 [membrane]
GO:0097193 [intrinsic apoptotic signaling pathway]
Show all
177 aa
20.2 kDa
No 0
COA8-217
ENSP00000501341
ENST00000674165
Q96IL0
[Direct mapping] Cytochrome c oxidase assembly factor 8
Show all
Predicted intracellular proteins
   Intracellular proteins predicted by MDM and MDSEC
Disease related genes
Human disease related genes
   Congenital disorders of metabolism
   Mitochondrial diseases
Mapped to neXtProt
   neXtProt - Evidence at protein level
Show all
GO:0000302 [response to reactive oxygen species]
GO:0005739 [mitochondrion]
GO:0005743 [mitochondrial inner membrane]
GO:0006915 [apoptotic process]
GO:0016020 [membrane]
GO:0033617 [mitochondrial cytochrome c oxidase assembly]
GO:0050821 [protein stabilization]
GO:0097193 [intrinsic apoptotic signaling pathway]
GO:0099617 [matrix side of mitochondrial inner membrane]
GO:1903427 [negative regulation of reactive oxygen species biosynthetic process]
GO:1904960 [positive regulation of cytochrome-c oxidase activity]
Show all
206 aa
24.2 kDa
No 0

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