Coa8 MGI Mouse Gene Detail - MGI:1915270 - cytochrome c oxidase assembly factor 8

Symbol

Coa8
Name

cytochrome c oxidase assembly factor 8
Synonyms

1700081D05Rik, 2810002N01Rik, Apop-1, Apopt1

Feature Type

protein coding gene
IDs

MGI:1915270
NCBI Gene: 68020
Alliance

gene page
Transcription Start Sites

7 TSS

Sequence Map

Chr12:111679695-111721487 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 12, 61.11 cM, cytoband F2
Mapping Data

2 experiments

SNPs within 2kb

498 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1915270	protein coding gene	Chr12:111679394-111721491 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0020140	protein coding gene	Chr12:114116608-114165956 (+)
A/J	MGP_AJ_G0020096	protein coding gene	Chr12:109735970-109781106 (+)
AKR/J	MGP_AKRJ_G0020071	protein coding gene	Chr12:112876809-112928095 (+)
BALB/cJ	MGP_BALBcJ_G0020081	protein coding gene	Chr12:110159816-110202645 (+)
C3H/HeJ	MGP_C3HHeJ_G0019883	protein coding gene	Chr12:113378537-113426069 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0020526	protein coding gene	Chr12:117663875-117716296 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0018139	protein coding gene	Chr12:106174562-106212812 (+)
CAST/EiJ	MGP_CASTEiJ_G0019424	protein coding gene	Chr12:108221431-108269206 (+)
CBA/J	MGP_CBAJ_G0019850	protein coding gene	Chr12:122132193-122206800 (+)
DBA/2J	MGP_DBA2J_G0019967	protein coding gene	Chr12:109212461-109256701 (+)
FVB/NJ	MGP_FVBNJ_G0019952	protein coding gene	Chr12:108019110-108066176 (+)
LP/J	MGP_LPJ_G0020042	protein coding gene	Chr12:113942831-113998730 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0019990	protein coding gene	Chr12:125270288-125318693 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0020555	protein coding gene	Chr12:112397134-112451742 (+)
PWK/PhJ	MGP_PWKPhJ_G0019185	protein coding gene	Chr12:103858245-103904240 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0018988	protein coding gene	Chr12:106566034-106612160 (+)
WSB/EiJ	MGP_WSBEiJ_G0019483	protein coding gene	Chr12:113307783-113354697 (+)

Human Ortholog

COA8, cytochrome c oxidase assembly factor 8

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COA8, cytochrome c oxidase assembly factor 8
Synonyms

APOP, APOP1, APOPT1, C14orf153, MC4DN17
Links

HGNC:20492

NCBI Gene ID: 84334

neXtProt AC: NX_Q96IL0

UniProt: Q96IL0
Chr Location

14q32.33; chr14:103562960-103607523 (+) GRCh38

MGI Vertebrate Homology

Coa8 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: COA8
Gene Tree

Coa8

Diseases

1 with human COA8 associations

				Human Disease	Mouse Models
				mitochondrial complex IV deficiency nuclear type 17 IDs mitochondrial complex IV deficiency nuclear type 17 DOID:0070502 OMIM:619061 UMLS_CUI:C5436718

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

8 phenotypes from 2 alleles in 2 genetic backgrounds
8 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

32
Endonuclease-mediated

2
Gene trapped

28
Targeted

2
Incidental Mutations

APF , CvDC
Find Mice (IMSR)

27 strains or lines available

Homozygous KO leads to defects in the mitochondrial respiratory chain, resulting in impaired endurance, coordination and locomotor activity.

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All GO Annotations

19
GO References

7

Molecular Function

No experimental evidence to support Molecular Function annotation, following literature review. See J:73796.

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	non-membrane-bounded organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

34

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase coa8

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All Sequences

57
RefSeq

8
UniProt

6
CCDS

CCDS26186.1, CCDS49181.1

Ensembl

ENSMUSG00000037787 (Evidence)
NCBI Gene

68020

			Length	Strain/Species	Flank
genomic	ENSMUSG00000037787	Ensembl Gene Model \| MGI Sequence Detail	41793	C57BL/6J	± kb
transcript	ENSMUST00000163220	Ensembl \| MGI Sequence Detail	671	Not Applicable
polypeptide	ENSMUSP00000131169	Ensembl \| MGI Sequence Detail	194	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000031322 cytochrome c oxidase assembly factor 8

(term hierarchy)
InterPro Domains

IPR018796 Cytochrome c oxidase assembly factor 8

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All nucleic 34

cDNA 34

Microarray probesets 6

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MGI:1920751

Summaries

All 33

Gene Ontology 7

Phenotypes 8
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:277865 Signes A, et al., APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS. EMBO Mol Med. 2019 Jan;11(1)

TSS for Coa8:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr115343	Chr12:111678857-111678863 (+)	-835 bp
Tssr115344	Chr12:111679407-111679419 (+)	-282 bp
Tssr115345	Chr12:111679435-111679465 (+)	-245 bp
Tssr115346	Chr12:111679689-111679737 (+)	18 bp
Tssr115347	Chr12:111679747-111679754 (+)	56 bp
Tssr3955	Chr12:111679759-111679774 (+)	72 bp
Tssr115348	Chr12:111704114-111704117 (+)	24,421 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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