Cox17 MGI Mouse Gene Detail - MGI:1333806 - cytochrome c oxidase assembly protein 17, copper chaperone

Symbol

Cox17
Name

cytochrome c oxidase assembly protein 17, copper chaperone
Synonyms

COX17

Feature Type

protein coding gene
IDs

MGI:1333806
NCBI Gene: 12856
Alliance

gene page
Transcription Start Sites

3 TSS

Sequence Map

Chr16:38167332-38173125 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 16, 26.77 cM
Mapping Data

1 experiment

SNPs within 2kb

240 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1333806	protein coding gene	Chr16:38167332-38182659 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0022811	protein coding gene	Chr16:36872507-36878273 (+)
A/J	MGP_AJ_G0022776	protein coding gene	Chr16:35043703-35049475 (+)
AKR/J	MGP_AKRJ_G0022748	protein coding gene	Chr16:36375162-36380938 (+)
BALB/cJ	MGP_BALBcJ_G0022777	protein coding gene	Chr16:35162794-35168581 (+)
C3H/HeJ	MGP_C3HHeJ_G0022541	protein coding gene	Chr16:36479358-36485127 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0023224	protein coding gene	Chr16:37711689-37717508 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0020739	protein coding gene	Chr16:35419146-35425004 (+)
CAST/EiJ	MGP_CASTEiJ_G0022067	protein coding gene	Chr16:36634870-36640655 (+)
CBA/J	MGP_CBAJ_G0022512	protein coding gene	Chr16:39372431-39378194 (+)
DBA/2J	MGP_DBA2J_G0022644	protein coding gene	Chr16:34925093-34931308 (+)
FVB/NJ	MGP_FVBNJ_G0022619	protein coding gene	Chr16:34956083-34961854 (+)
LP/J	MGP_LPJ_G0022712	protein coding gene	Chr16:36554108-36559875 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0022638	protein coding gene	Chr16:38487825-38493580 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023239	protein coding gene	Chr16:36337349-36343413 (+)
PWK/PhJ	MGP_PWKPhJ_G0021807	protein coding gene	Chr16:35335598-35341355 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0021638	protein coding gene	Chr16:36234434-36240229 (+)
WSB/EiJ	MGP_WSBEiJ_G0022111	protein coding gene	Chr16:36407472-36413262 (+)

Human Ortholog

COX17, cytochrome c oxidase copper chaperone COX17

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

COX17, cytochrome c oxidase copper chaperone COX17
Links

HGNC:2264

NCBI Gene ID: 10063

neXtProt AC: NX_Q14061

UniProt: Q14061
Chr Location

3q13.33; chr3:119654513-119677454 (-) GRCh38

MGI Vertebrate Homology

Cox17 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: COX17
Gene Tree

Cox17

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Phenotype Summary

5 phenotypes from 1 allele in 1 genetic background
4 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

3
Endonuclease-mediated

1
Targeted

2
Incidental Mutations

APF
Find Mice (IMSR)

8 strains or lines available

Embryos homozygous for a targeted null mutation are growth retarded and die between E8.5 and E10, with severe reductions in cytochrome c oxidase activity at E6.5.

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All GO Annotations

19
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

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	membraneless 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

820
Tissues

103
cDNA Data

76
Literature Summary

2

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase cox17

ZFIN cox17

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All Sequences

48
RefSeq

4
UniProt

3
CCDS

CCDS28165.1

Ensembl

ENSMUSG00000046516 (Evidence)
NCBI Gene

12856

			Length	Strain/Species	Flank
genomic	12856	NCBI Gene Model \| MGI Sequence Detail	5794	C57BL/6J	± kb
transcript	NM_001017429	RefSeq \| MGI Sequence Detail	436	Not Specified
polypeptide	P56394	UniProt \| EBI \| MGI Sequence Detail	63	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000005773 cytochrome c oxidase copper chaperone

(term hierarchy)
InterPro Domains

IPR009069 Cysteine alpha-hairpin motif superfamily

IPR007745 Cytochrome c oxidase copper chaperone
GlyGen

P56394 1 site, 1 O-linked glycan (1 site)

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All nucleic 77

cDNA 76

Other 1

Microarray probesets 3

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MGI:2146374

Summaries

All 35

Developmental Gene Expression 2

Gene Ontology 8

Phenotypes 4
Earliest

J:51199 Nishihara E, et al., Expression of copper trafficking genes in the mouse brain. Neuroreport. 1998 Oct 5;9(14):3259-63
Latest

J:347290 Guhathakurta S, et al., COX17 acetylation via MOF-KANSL complex promotes mitochondrial integrity and function. Nat Metab. 2023 Nov;5(11):1931-1952

TSS for Cox17:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr138373	Chr16:38167348-38167412 (+)	48 bp
Tssr138374	Chr16:38167435-38167446 (+)	109 bp
Tssr138375	Chr16:38167617-38167622 (+)	288 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)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24