COX17 (cytochrome c oxidase copper chaperone COX17) - Rat Genome Database

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Gene: COX17 (cytochrome c oxidase copper chaperone COX17) Homo sapiens
Analyze
Symbol: COX17
Name: cytochrome c oxidase copper chaperone COX17
RGD ID: 733581
HGNC Page HGNC:2264
Description: Enables copper chaperone activity and cuprous ion binding activity. Involved in mitochondrial cytochrome c oxidase assembly; positive regulation of cell population proliferation; and positive regulation of cytochrome-c oxidase activity. Located in mitochondrial intermembrane space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COX17 cytochrome c oxidase assembly homolog; COX17 cytochrome c oxidase copper chaperone; COX17, cytochrome c oxidase copper chaperone; cytochrome c oxidase 17 copper chaperone; cytochrome c oxidase assembly homolog 17; cytochrome c oxidase copper chaperone; cytochrome c oxidase, subunit xvii assembly protein homolog (yeast); human homolog of yeast mitochondrial copper recruitment; MGC104397; MGC117386
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: COX17P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383119,663,975 - 119,677,406 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3119,654,513 - 119,677,454 (-)EnsemblGRCh38hg38GRCh38
GRCh373119,382,822 - 119,396,253 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363120,871,062 - 120,878,933 (-)NCBINCBI36Build 36hg18NCBI36
Build 343120,871,061 - 120,878,933NCBI
Celera3117,796,888 - 117,804,750 (-)NCBICelera
Cytogenetic Map3q13.33NCBI
HuRef3116,764,172 - 116,772,021 (-)NCBIHuRef
CHM1_13119,351,879 - 119,359,738 (-)NCBICHM1_1
T2T-CHM13v2.03122,383,687 - 122,397,091 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(+)-dexrazoxane  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methylcholine  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
6-propyl-2-thiouracil  (ISO)
all-trans-retinoic acid  (ISO)
amiodarone  (ISO)
amitrole  (ISO)
amphetamine  (ISO)
apigenin  (ISO)
Aroclor 1254  (ISO)
arsenite(3-)  (ISO)
arsenous acid  (ISO)
atrazine  (EXP)
benzo[a]pyrene  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
chloropicrin  (EXP)
chromium(6+)  (EXP)
clobetasol  (ISO)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP,ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethanol  (ISO)
fenthion  (ISO)
finasteride  (ISO)
flutamide  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
gold atom  (EXP)
gold(0)  (EXP)
heptanal  (EXP)
hexanal  (EXP)
isoniazide  (ISO)
ivermectin  (EXP)
lead diacetate  (EXP)
leflunomide  (ISO)
lipopolysaccharide  (ISO)
methimazole  (ISO)
mitomycin C  (EXP)
nimesulide  (ISO)
nonanal  (EXP)
octanal  (EXP)
oxaliplatin  (EXP)
oxybenzone  (ISO)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
pentanal  (EXP)
phenylephrine  (ISO)
phlorizin  (ISO)
pirinixic acid  (ISO)
poly(vinylpyrrolidone)  (ISO)
potassium chromate  (EXP)
propanal  (EXP)
rac-lactic acid  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
tetraethylenepentamine  (EXP)
tetrathiomolybdate(2-)  (EXP)
thapsigargin  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (EXP)
venlafaxine hydrochloride  (ISO)
vincaleukoblastine  (EXP)
zinc atom  (ISO)
zinc dichloride  (EXP)
zinc sulfate  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA,TAS)
mitochondrial intermembrane space  (IBA,IDA,IEA,TAS)
mitochondrion  (HTP,IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9050918   PMID:10982038   PMID:11027508   PMID:11054125   PMID:11170391   PMID:12477932   PMID:14612491   PMID:14702039   PMID:15489334   PMID:15504366   PMID:15893662   PMID:16169070  
PMID:16189514   PMID:16520371   PMID:16806233   PMID:17207965   PMID:17208454   PMID:17672825   PMID:18093982   PMID:18458339   PMID:19182799   PMID:19393246   PMID:20877624   PMID:21816817  
PMID:21873635   PMID:21988832   PMID:22356826   PMID:24343031   PMID:25416956   PMID:26344197   PMID:26399480   PMID:26589182   PMID:26745464   PMID:27235272   PMID:29208936   PMID:29568061  
PMID:29599191   PMID:30884312   PMID:31536960   PMID:32296183   PMID:32814053   PMID:32913203   PMID:33961781   PMID:34373451   PMID:34800366   PMID:35271311   PMID:35831314   PMID:37223481  
PMID:37974198   PMID:38803224  


Genomics

Comparative Map Data
COX17
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh383119,663,975 - 119,677,406 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl3119,654,513 - 119,677,454 (-)EnsemblGRCh38hg38GRCh38
GRCh373119,382,822 - 119,396,253 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 363120,871,062 - 120,878,933 (-)NCBINCBI36Build 36hg18NCBI36
Build 343120,871,061 - 120,878,933NCBI
Celera3117,796,888 - 117,804,750 (-)NCBICelera
Cytogenetic Map3q13.33NCBI
HuRef3116,764,172 - 116,772,021 (-)NCBIHuRef
CHM1_13119,351,879 - 119,359,738 (-)NCBICHM1_1
T2T-CHM13v2.03122,383,687 - 122,397,091 (-)NCBIT2T-CHM13v2.0
Cox17
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391638,167,332 - 38,173,125 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1638,167,353 - 38,182,659 (+)EnsemblGRCm39 Ensembl
GRCm381638,346,983 - 38,352,763 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1638,346,991 - 38,352,763 (+)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl1638,347,040 - 38,362,297 (+)EnsemblGRCm38mm10GRCm38
MGSCv371638,347,085 - 38,352,849 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361638,266,238 - 38,272,002 (+)NCBIMGSCv36mm8
Celera1638,757,318 - 38,763,078 (+)NCBICelera
Cytogenetic Map16B3NCBI
cM Map1626.77NCBI
Cox17
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81175,906,245 - 75,912,036 (-)NCBIGRCr8
mRatBN7.21162,400,733 - 62,406,507 (-)NCBImRatBN7.2mRatBN7.2
UTH_Rnor_SHR_Utx1171,213,255 - 71,219,029 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01163,875,474 - 63,881,248 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01162,925,841 - 62,931,615 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01164,962,663 - 64,968,437 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1164,962,666 - 64,968,437 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01167,113,608 - 67,119,382 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41164,183,573 - 64,185,985 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11164,241,161 - 64,243,574 (-)NCBI
Celera1161,901,400 - 61,907,174 (-)NCBICelera
Cytogenetic Map11q21NCBI
LOC102021151
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542719,376,482 - 19,384,270 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542719,376,482 - 19,384,270 (-)NCBIChiLan1.0ChiLan1.0
LOC100970363
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22117,635,812 - 117,651,655 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan13117,640,582 - 117,656,437 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v03116,786,430 - 116,796,888 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.13123,696,145 - 123,709,178 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl3123,701,288 - 123,709,205 (-)Ensemblpanpan1.1panPan2
COX17
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13323,305,119 - 23,313,022 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3323,305,085 - 23,313,064 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3323,335,000 - 23,342,902 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03323,542,750 - 23,550,698 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3323,542,719 - 23,550,757 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13323,345,044 - 23,352,977 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03323,380,906 - 23,388,783 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03323,950,638 - 23,958,576 (-)NCBIUU_Cfam_GSD_1.0
LOC101975509
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405602130,925,823 - 130,947,006 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365366,560,329 - 6,596,259 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365366,575,010 - 6,596,172 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
COX17
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl13140,584,363 - 140,587,621 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.113140,584,286 - 140,594,636 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.213149,914,913 - 149,944,656 (+)NCBISscrofa10.2Sscrofa10.2susScr3
COX17
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12261,143,400 - 61,151,348 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2261,143,462 - 61,151,299 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041105,160,833 - 105,168,998 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
LOC101702679
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473128,481,594 - 28,488,528 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473128,481,591 - 28,488,395 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in COX17
3 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1 copy number loss See cases [RCV000051543] Chr3:93886671..123216683 [GRCh38]
Chr3:93605515..122935530 [GRCh37]
Chr3:95088205..124418220 [NCBI36]
Chr3:3q11.1-21.1		 pathogenic
GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1 copy number loss See cases [RCV000051546] Chr3:119117166..125920734 [GRCh38]
Chr3:118836013..125639577 [GRCh37]
Chr3:120318703..127122267 [NCBI36]
Chr3:3q13.32-21.2		 pathogenic
GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3 copy number gain See cases [RCV000134948] Chr3:103426882..198110178 [GRCh38]
Chr3:103145726..197837049 [GRCh37]
Chr3:104628416..199321446 [NCBI36]
Chr3:3q13.11-29		 pathogenic
GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4 copy number gain See cases [RCV000135591] Chr3:117844958..120797026 [GRCh38]
Chr3:117563805..120515873 [GRCh37]
Chr3:119046495..121998563 [NCBI36]
Chr3:3q13.32-13.33		 uncertain significance
GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1 copy number loss See cases [RCV000135961] Chr3:115019074..122513398 [GRCh38]
Chr3:114737921..122232245 [GRCh37]
Chr3:116220611..123714935 [NCBI36]
Chr3:3q13.31-21.1		 pathogenic
GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1 copy number loss See cases [RCV000139033] Chr3:112620977..128734134 [GRCh38]
Chr3:112339824..128452977 [GRCh37]
Chr3:113822514..129935667 [NCBI36]
Chr3:3q13.2-21.3		 pathogenic
GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1 copy number loss See cases [RCV000142009] Chr3:114122562..124532374 [GRCh38]
Chr3:113841409..124251221 [GRCh37]
Chr3:115324099..125733911 [NCBI36]
Chr3:3q13.31-21.2		 pathogenic
GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3 copy number gain See cases [RCV000142340] Chr3:93800620..145695381 [GRCh38]
Chr3:93519464..145413168 [GRCh37]
Chr3:95002154..146895858 [NCBI36]
Chr3:3q11.1-24		 pathogenic
GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4 copy number gain See cases [RCV000142877] Chr3:117844958..120826621 [GRCh38]
Chr3:117563805..120545468 [GRCh37]
Chr3:119046495..122028158 [NCBI36]
Chr3:3q13.32-13.33		 uncertain significance
GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1 copy number loss See cases [RCV000142725] Chr3:112520553..120031022 [GRCh38]
Chr3:112239400..119749869 [GRCh37]
Chr3:113722090..121232559 [NCBI36]
Chr3:3q13.2-13.33		 pathogenic
GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1 copy number loss See cases [RCV000143695] Chr3:118673898..126540730 [GRCh38]
Chr3:118392745..126259573 [GRCh37]
Chr3:119875435..127742263 [NCBI36]
Chr3:3q13.32-21.3		 pathogenic
GRCh37/hg19 3q13.33(chr3:119188677-119500810)x3 copy number gain See cases [RCV000240551] Chr3:119188677..119500810 [GRCh37]
Chr3:3q13.33		 uncertain significance
GRCh37/hg19 3q13.33(chr3:119188677-119500751)x3 copy number gain See cases [RCV000445965] Chr3:119188677..119500751 [GRCh37]
Chr3:3q13.33		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1 copy number loss not provided [RCV000682298] Chr3:115518341..122129283 [GRCh37]
Chr3:3q13.31-21.1		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3q13.33(chr3:119385140-119442572)x3 copy number gain not provided [RCV000742712] Chr3:119385140..119442572 [GRCh37]
Chr3:3q13.33		 benign
GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3 copy number gain not provided [RCV002472621] Chr3:116620308..172042292 [GRCh37]
Chr3:3q13.31-26.31		 pathogenic
GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1 copy number loss not provided [RCV002473909] Chr3:116109191..120328013 [GRCh37]
Chr3:3q13.31-13.33		 uncertain significance
GRCh37/hg19 3q13.33(chr3:119354755-119773920) copy number gain not specified [RCV002053370] Chr3:119354755..119773920 [GRCh37]
Chr3:3q13.33		 uncertain significance
NM_005694.2(COX17):c.98G>A (p.Arg33His) single nucleotide variant not specified [RCV004120888] Chr3:119677213 [GRCh38]
Chr3:119396060 [GRCh37]
Chr3:3q13.33		 uncertain significance
GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1 copy number loss Chromosome 3q13.31 deletion syndrome [RCV003327614] Chr3:93979547..124774010 [GRCh38]
Chr3:3q11.1-21.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1241
Count of miRNA genes:614
Interacting mature miRNAs:684
Transcripts:ENST00000261070, ENST00000468918, ENST00000484810, ENST00000486606, ENST00000490145, ENST00000497116, ENST00000497997
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406944594GWAS593570_Ht-tau measurement QTL GWAS593570 (human)0.0000003t-tau measurement3119673396119673397Human
407272129GWAS921105_Ht-tau measurement QTL GWAS921105 (human)0.0000003t-tau measurement3119670621119670622Human

Markers in Region
UniSTS:81716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371347,065,246 - 47,065,345UniSTSGRCh37
Build 361345,963,247 - 45,963,346RGDNCBI36
Celera1328,121,063 - 28,121,162RGD
HuRef1327,858,209 - 27,858,308UniSTS
RH67876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371347,065,161 - 47,065,271UniSTSGRCh37
Build 361345,963,162 - 45,963,272RGDNCBI36
Celera1328,120,978 - 28,121,088RGD
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map13q14.13UniSTS
HuRef1327,858,124 - 27,858,234UniSTS
GeneMap99-GB4 RH Map13136.11UniSTS
NCBI RH Map13417.4UniSTS
STS-W67166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371347,065,108 - 47,065,343UniSTSGRCh37
Build 361345,963,109 - 45,963,344RGDNCBI36
Celera1328,120,925 - 28,121,160RGD
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map13q14.13UniSTS
HuRef1327,858,071 - 27,858,306UniSTS
GeneMap99-GB4 RH Map13142.38UniSTS
NCBI RH Map13416.1UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2253 4971 1726 2350 5 622 1950 465 2269 7299 6467 53 3732 850 1741 1617 174 1

Sequence


Ensembl Acc Id: ENST00000261070   ⟹   ENSP00000261070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3119,669,532 - 119,677,406 (-)Ensembl
Ensembl Acc Id: ENST00000468918   ⟹   ENSP00000417805
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3119,660,095 - 119,677,454 (-)Ensembl
Ensembl Acc Id: ENST00000484810   ⟹   ENSP00000417651
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3119,669,532 - 119,677,346 (-)Ensembl
Ensembl Acc Id: ENST00000486606   ⟹   ENSP00000417120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3119,669,532 - 119,677,294 (-)Ensembl
Ensembl Acc Id: ENST00000490145   ⟹   ENSP00000420406
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3119,654,513 - 119,676,922 (-)Ensembl
Ensembl Acc Id: ENST00000497116   ⟹   ENSP00000417923
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3119,674,379 - 119,677,364 (-)Ensembl
Ensembl Acc Id: ENST00000497997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl3119,669,534 - 119,675,577 (-)Ensembl
RefSeq Acc Id: NM_001382002   ⟹   NP_001368931
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,669,532 - 119,677,406 (-)NCBI
T2T-CHM13v2.03122,389,230 - 122,397,091 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382003   ⟹   NP_001368932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,674,408 - 119,677,406 (-)NCBI
T2T-CHM13v2.03122,394,098 - 122,397,091 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005694   ⟹   NP_005685
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,669,532 - 119,677,406 (-)NCBI
GRCh373119,388,372 - 119,396,243 (-)ENTREZGENE
Build 363120,871,062 - 120,878,933 (-)NCBI Archive
HuRef3116,764,172 - 116,772,021 (-)ENTREZGENE
CHM1_13119,351,879 - 119,359,738 (-)NCBI
T2T-CHM13v2.03122,389,230 - 122,397,091 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167771
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,663,975 - 119,677,406 (-)NCBI
T2T-CHM13v2.03122,383,687 - 122,397,091 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167772
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,663,975 - 119,677,003 (-)NCBI
T2T-CHM13v2.03122,383,687 - 122,396,695 (-)NCBI
Sequence:
RefSeq Acc Id: NP_005685   ⟸   NM_005694
- Peptide Label: isoform b
- UniProtKB: D3DN84 (UniProtKB/Swiss-Prot),   B2R5D2 (UniProtKB/Swiss-Prot),   Q3MHD6 (UniProtKB/Swiss-Prot),   Q14061 (UniProtKB/Swiss-Prot),   H7C4E5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001368931   ⟸   NM_001382002
- Peptide Label: isoform a
- UniProtKB: C9J8T6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001368932   ⟸   NM_001382003
- Peptide Label: isoform b
- UniProtKB: Q14061 (UniProtKB/Swiss-Prot),   D3DN84 (UniProtKB/Swiss-Prot),   B2R5D2 (UniProtKB/Swiss-Prot),   Q3MHD6 (UniProtKB/Swiss-Prot),   H7C4E5 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000420406   ⟸   ENST00000490145
Ensembl Acc Id: ENSP00000417805   ⟸   ENST00000468918
Ensembl Acc Id: ENSP00000417923   ⟸   ENST00000497116
Ensembl Acc Id: ENSP00000417651   ⟸   ENST00000484810
Ensembl Acc Id: ENSP00000261070   ⟸   ENST00000261070
Ensembl Acc Id: ENSP00000417120   ⟸   ENST00000486606
Protein Domains
CHCH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14061-F1-model_v2 AlphaFold Q14061 1-63 view protein structure

Promoters
RGD ID:6865358
Promoter ID:EPDNEW_H5844
Type:initiation region
Name:COX17_1
Description:COX17, cytochrome c oxidase copper chaperone
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh383119,677,406 - 119,677,466EPDNEW
RGD ID:6800789
Promoter ID:HG_KWN:45928
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005694
Position:
Human AssemblyChrPosition (strand)Source
Build 363120,878,774 - 120,879,274 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2264 AgrOrtholog
COSMIC COX17 COSMIC
Ensembl Genes ENSG00000138495 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261070 ENTREZGENE
  ENST00000261070.7 UniProtKB/Swiss-Prot
  ENST00000468918.5 UniProtKB/Swiss-Prot
  ENST00000484810 ENTREZGENE
  ENST00000484810.5 UniProtKB/TrEMBL
  ENST00000486606.5 UniProtKB/TrEMBL
  ENST00000490145.1 UniProtKB/TrEMBL
  ENST00000497116 ENTREZGENE
  ENST00000497116.1 UniProtKB/Swiss-Prot
Gene3D-CATH CytochromE C oxidase copper chaperone UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138495 GTEx
HGNC ID HGNC:2264 ENTREZGENE
Human Proteome Map COX17 Human Proteome Map
InterPro Cys_alpha_HP_mot_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cyt_c_oxidase_Cu-chaperone UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:10063 UniProtKB/Swiss-Prot
NCBI Gene 10063 ENTREZGENE
OMIM 604813 OMIM
PANTHER CYTOCHROME C OXIDASE COPPER CHAPERONE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR16719 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam COX17 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26780 PharmGKB
PROSITE CHCH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47072 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R5D2 ENTREZGENE
  C9J8T6 ENTREZGENE, UniProtKB/TrEMBL
  COX17_HUMAN UniProtKB/Swiss-Prot
  D3DN84 ENTREZGENE
  H7C4E5 ENTREZGENE, UniProtKB/TrEMBL
  H7C5P5_HUMAN UniProtKB/TrEMBL
  Q14061 ENTREZGENE
  Q3MHD6 ENTREZGENE
UniProt Secondary B2R5D2 UniProtKB/Swiss-Prot
  D3DN84 UniProtKB/Swiss-Prot
  Q3MHD6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-07-10 COX17  cytochrome c oxidase copper chaperone COX17    COX17, cytochrome c oxidase copper chaperone  Symbol and/or name change 5135510 APPROVED
2016-02-16 COX17  COX17 cytochrome c oxidase copper chaperone    COX17, cytochrome c oxidase copper chaperone  Symbol and/or name change 5135510 APPROVED
2013-06-04 COX17  COX17 cytochrome c oxidase copper chaperone    cytochrome c oxidase assembly homolog 17 (yeast)  Symbol and/or name change 5135510 APPROVED
2012-10-23 COX17  cytochrome c oxidase assembly homolog 17 (yeast)    COX17 cytochrome c oxidase assembly homolog (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED