COX4I1 (cytochrome c oxidase subunit 4I1)

2007-04-01  

Identity

HGNC
LOCATION
16q24.1
LOCUSID
ALIAS
COX
FUSION GENES

Other Information

Locus ID:

NCBI: 1327
MIM: 123864
HGNC: 2265
Ensembl: ENSG00000131143

Variants:

dbSNP: 1327
ClinVar: 1327
TCGA: ENSG00000131143
COSMIC: COX4I1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131143ENST00000253452P13073
ENSG00000131143ENST00000561569P13073
ENSG00000131143ENST00000562336P13073
ENSG00000131143ENST00000564544Q86WV2
ENSG00000131143ENST00000564903H3BN72
ENSG00000131143ENST00000565078H3BNI5
ENSG00000131143ENST00000566115H3BPR4
ENSG00000131143ENST00000566405H3BPG0
ENSG00000131143ENST00000568794H3BNV9

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Alzheimer's diseaseKEGGko05010
Huntington's diseaseKEGGko05016
Oxidative phosphorylationKEGGhsa00190
Alzheimer's diseaseKEGGhsa05010
Parkinson's diseaseKEGGhsa05012
Huntington's diseaseKEGGhsa05016
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Metabolic pathwaysKEGGhsa01100
Cytochrome c oxidaseKEGGhsa_M00154
Cytochrome c oxidaseKEGGM00154
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Metabolic GenesREACTOMER-HSA-5628897
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
387187332024Cytochrome c oxidase IV isoform 1 (COX4-1) regulates the proliferation, migration and invasion of trophoblast cells via modulating mitochondrial function.0
387187332024Cytochrome c oxidase IV isoform 1 (COX4-1) regulates the proliferation, migration and invasion of trophoblast cells via modulating mitochondrial function.0
354569682022Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency.2
354569682022Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency.2
336725892021Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 Deficiency.5
336725892021Upregulation of COX4-2 via HIF-1α in Mitochondrial COX4-1 Deficiency.5
302238672018Myocardial insufficiency is related to reduced subunit 4 content of cytochrome c oxidase.7
302238672018Myocardial insufficiency is related to reduced subunit 4 content of cytochrome c oxidase.7
287665512017Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.23
289165382017Analysis of blood-based gene expression in idiopathic Parkinson disease.0
287665512017Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.23
289165382017Analysis of blood-based gene expression in idiopathic Parkinson disease.0
257265262015Nuclear-encoded cytochrome c oxidase subunit 4 regulates BMI1 expression and determines proliferative capacity of high-grade gliomas.32
257265262015Nuclear-encoded cytochrome c oxidase subunit 4 regulates BMI1 expression and determines proliferative capacity of high-grade gliomas.32
217715822012Regulation of mitochondrial respiration and apoptosis through cell signaling: cytochrome c oxidase and cytochrome c in ischemia/reperfusion injury and inflammation.107

Citation

Dessen P

COX4I1 (cytochrome c oxidase subunit 4I1)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47235/cox4i1