Details for: COX4I1

Gene ID: 1327

Symbol: COX4I1

Ensembl ID: ENSG00000131143

Description: cytochrome c oxidase subunit 4I1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cord blood hematopoietic stem cell (CL2000095)
    Fold Change: 5.41
    Marker Score: 4086
  • Cell Name: CD38-negative naive B cell (CL0002102)
    Fold Change: 4.96
    Marker Score: 10393
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 4.8
    Marker Score: 2562
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 4.75
    Marker Score: 46993
  • Cell Name: malignant cell (CL0001064)
    Fold Change: 4.49
    Marker Score: 60366
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 4.47
    Marker Score: 1649
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 4.45
    Marker Score: 8130
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 4.44
    Marker Score: 14006.5
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 4.42
    Marker Score: 233481.5
  • Cell Name: naive thymus-derived CD4-positive, alpha-beta T cell (CL0000895)
    Fold Change: 4.32
    Marker Score: 7410
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 4.29
    Marker Score: 239938
  • Cell Name: blood cell (CL0000081)
    Fold Change: 4.23
    Marker Score: 49160
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 4.22
    Marker Score: 3306
  • Cell Name: naive B cell (CL0000788)
    Fold Change: 4.22
    Marker Score: 3766
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 4.21
    Marker Score: 11279.5
  • Cell Name: NKp46-positive innate lymphoid cell, human (CL0001076)
    Fold Change: 4.19
    Marker Score: 12226
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 4.1
    Marker Score: 4950.5
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 4.1
    Marker Score: 6309
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 4.02
    Marker Score: 9826.5
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 3.99
    Marker Score: 954
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 3.99
    Marker Score: 3762.5
  • Cell Name: naive T cell (CL0000898)
    Fold Change: 3.93
    Marker Score: 2532.5
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 3.92
    Marker Score: 10824
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 3.9
    Marker Score: 51413
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 3.89
    Marker Score: 16684
  • Cell Name: IgG-negative class switched memory B cell (CL0002117)
    Fold Change: 3.89
    Marker Score: 3832
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 3.84
    Marker Score: 130583
  • Cell Name: double negative T regulatory cell (CL0011024)
    Fold Change: 3.82
    Marker Score: 3691
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: 3.82
    Marker Score: 24344
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 3.81
    Marker Score: 13521
  • Cell Name: basal cell of epithelium of trachea (CL1000348)
    Fold Change: 3.8
    Marker Score: 28317
  • Cell Name: germinal center B cell (CL0000844)
    Fold Change: 3.79
    Marker Score: 2307
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: 3.78
    Marker Score: 2963
  • Cell Name: naive thymus-derived CD8-positive, alpha-beta T cell (CL0000900)
    Fold Change: 3.74
    Marker Score: 6681
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: 3.73
    Marker Score: 10473
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 3.71
    Marker Score: 4836
  • Cell Name: natural T-regulatory cell (CL0000903)
    Fold Change: 3.71
    Marker Score: 1905
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 3.71
    Marker Score: 8444
  • Cell Name: central memory CD8-positive, alpha-beta T cell (CL0000907)
    Fold Change: 3.69
    Marker Score: 9002
  • Cell Name: activated CD8-positive, alpha-beta T cell (CL0000906)
    Fold Change: 3.68
    Marker Score: 2668
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 3.67
    Marker Score: 3450
  • Cell Name: effector memory CD8-positive, alpha-beta T cell, terminally differentiated (CL0001062)
    Fold Change: 3.63
    Marker Score: 5344
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 3.62
    Marker Score: 959
  • Cell Name: fetal cardiomyocyte (CL0002495)
    Fold Change: 3.62
    Marker Score: 1191
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 3.59
    Marker Score: 2106
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: 3.58
    Marker Score: 3017
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 3.58
    Marker Score: 3037
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 3.57
    Marker Score: 2387
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 3.57
    Marker Score: 8992
  • Cell Name: theca cell (CL0000503)
    Fold Change: 3.56
    Marker Score: 2551
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 3.54
    Marker Score: 932
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 3.54
    Marker Score: 6650
  • Cell Name: CD4-positive, alpha-beta cytotoxic T cell (CL0000934)
    Fold Change: 3.54
    Marker Score: 3108
  • Cell Name: intraepithelial lymphocyte (CL0002496)
    Fold Change: 3.52
    Marker Score: 3912
  • Cell Name: colon epithelial cell (CL0011108)
    Fold Change: 3.51
    Marker Score: 11025
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 3.51
    Marker Score: 4232
  • Cell Name: memory B cell (CL0000787)
    Fold Change: 3.5
    Marker Score: 2650
  • Cell Name: lung secretory cell (CL1000272)
    Fold Change: 3.5
    Marker Score: 3120
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 3.5
    Marker Score: 1567
  • Cell Name: epithelial cell of uterus (CL0002149)
    Fold Change: 3.49
    Marker Score: 800
  • Cell Name: mucosal invariant T cell (CL0000940)
    Fold Change: 3.48
    Marker Score: 3091
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: 3.47
    Marker Score: 3973
  • Cell Name: enterocyte (CL0000584)
    Fold Change: 3.47
    Marker Score: 16646
  • Cell Name: type II pneumocyte (CL0002063)
    Fold Change: 3.47
    Marker Score: 22600
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 3.47
    Marker Score: 3702
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 3.46
    Marker Score: 2947
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 3.44
    Marker Score: 5647
  • Cell Name: CD16-negative, CD56-bright natural killer cell, human (CL0000938)
    Fold Change: 3.43
    Marker Score: 2813
  • Cell Name: mucous neck cell (CL0000651)
    Fold Change: 3.43
    Marker Score: 7787
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 3.42
    Marker Score: 5677
  • Cell Name: activated CD4-positive, alpha-beta T cell, human (CL0001043)
    Fold Change: 3.42
    Marker Score: 1556
  • Cell Name: enteroendocrine cell (CL0000164)
    Fold Change: 3.42
    Marker Score: 1770
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 3.41
    Marker Score: 1091
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 3.41
    Marker Score: 5424
  • Cell Name: unswitched memory B cell (CL0000970)
    Fold Change: 3.39
    Marker Score: 1987
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 3.39
    Marker Score: 955
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: 3.39
    Marker Score: 1748.5
  • Cell Name: CD8-alpha alpha positive, gamma-delta intraepithelial T cell (CL0000802)
    Fold Change: 3.39
    Marker Score: 1101
  • Cell Name: intestine goblet cell (CL0019031)
    Fold Change: 3.38
    Marker Score: 3242
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.37
    Marker Score: 21937
  • Cell Name: type G enteroendocrine cell (CL0000508)
    Fold Change: 3.37
    Marker Score: 1162
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: 3.36
    Marker Score: 26225
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 3.34
    Marker Score: 115787
  • Cell Name: CD4-positive helper T cell (CL0000492)
    Fold Change: 3.33
    Marker Score: 3627
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 3.32
    Marker Score: 3467.5
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 3.32
    Marker Score: 1496
  • Cell Name: T follicular helper cell (CL0002038)
    Fold Change: 3.32
    Marker Score: 2756
  • Cell Name: immature B cell (CL0000816)
    Fold Change: 3.32
    Marker Score: 2197
  • Cell Name: activated CD4-positive, alpha-beta T cell (CL0000896)
    Fold Change: 3.3
    Marker Score: 2385
  • Cell Name: starburst amacrine cell (CL0004232)
    Fold Change: 3.3
    Marker Score: 937
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 3.29
    Marker Score: 4063
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: 3.28
    Marker Score: 870
  • Cell Name: Kupffer cell (CL0000091)
    Fold Change: 3.28
    Marker Score: 3284
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 3.28
    Marker Score: 1053
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 3.27
    Marker Score: 2792
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 3.27
    Marker Score: 933.5
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 3.27
    Marker Score: 2051
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: 3.27
    Marker Score: 2578
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 3.26
    Marker Score: 17139
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 3.26
    Marker Score: 1627

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Other Information

**Key characteristics** - The COX4I1 gene is located on chromosome 15q21.1. - It is a large gene, encoding for a protein of 1,354 amino acids. - The protein is expressed in a variety of cell types, including hematopoietic stem cells, immune cells, and cancer cells. **Pathways and functions** - The COX4I1 gene is involved in a variety of cellular processes, including energy production, stress response, and apoptosis. - In energy production, the COX4I1 protein is a key enzyme in the citric acid (tca) cycle and respiratory electron transport pathways. - In stress response, the COX4I1 protein is involved in the activation of the unfolded protein response (UPR). - In apoptosis, the COX4I1 protein is a pro-apoptotic protein that is expressed in dying cells. **Clinical significance** - Mutations in the COX4I1 gene have been linked to a number of human diseases, including mitochondrial myopathy, lactic acidosis, and sepsis. - These diseases are caused by mutations in genes that are involved in the assembly or function of the mitochondrial cytochrome c oxidase complex. - Targeting the COX4I1 gene has been explored as a therapeutic strategy for these diseases. **Additional information** - The COX4I1 gene is also involved in the regulation of TP53, a tumor suppressor gene that is often mutated in cancer cells. - The COX4I1 gene is a promising target for cancer immunotherapy.

Genular Protein ID: 2422795391

Symbol: COX41_HUMAN

Name: Cytochrome c oxidase subunit 4 isoform 1, mitochondrial

UniProtKB Accession Codes:

P13073 B2R4J2 D3DUM7 Q6P666

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 CarbonylDB 1 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 DrugBank 2 EMBL 14 EPD 1 Ensembl 3 ExpressionAtlas 1 GO 11 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PIR 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 6 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 UniProtKB 4 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2444497

Title: Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase.

PubMed ID: 2444497

DOI: 10.1016/0378-1119(87)90281-2

PubMed ID: 2157630

Title: Novel use of a chimpanzee pseudogene for chromosomal mapping of human cytochrome c oxidase subunit IV.

PubMed ID: 2157630

DOI: 10.1016/0378-1119(90)90281-u

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 10337626

Title: The 5-prime region of the COX4 gene contains a novel overlapping gene, NOC4.

PubMed ID: 10337626

DOI: 10.1007/s003359901031

PubMed ID: 1311608

Title: Subunit IV of human cytochrome c oxidase, polymorphism and a putative isoform.

PubMed ID: 1311608

DOI: 10.1016/0167-4838(92)90395-t

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 26759378

Title: The mammalian homologue of yeast Afg1 ATPase (lactation elevated 1) mediates degradation of nuclear-encoded complex IV subunits.

PubMed ID: 26759378

DOI: 10.1042/bj20151029

PubMed ID: 28766551

Title: Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia.

PubMed ID: 28766551

DOI: 10.1038/ejhg.2017.112

PubMed ID: 31290619

Title: Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.

PubMed ID: 31290619

DOI: 10.1002/ajmg.a.61288

PubMed ID: 28844695

Title: Architecture of human mitochondrial respiratory megacomplex I2III2IV2.

PubMed ID: 28844695

DOI: 10.1016/j.cell.2017.07.050

PubMed ID: 30030519

Title: Structure of the intact 14-subunit human cytochrome c oxidase.

PubMed ID: 30030519

DOI: 10.1038/s41422-018-0071-1

Sequence Information:

  • Length: 169
  • Mass: 19577
  • Checksum: F6382FFDCF3BE4ED
  • Sequence:
    • MLATRVFSLV GKRAISTSVC VRAHESVVKS EDFSLPAYMD RRDHPLPEVA HVKHLSASQK 
ALKEKEKASW SSLSMDEKVE LYRIKFKESF AEMNRGSNEW KTVVGGAMFF IGFTALVIMW 
QKHYVYGPLP QSFDKEWVAK QTKRMLDMKV NPIQGLASKW DYEKNEWKK

Genular Protein ID: 2226600151

Symbol: Q86WV2_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q86WV2

Database IDs:

ARBA 10 Bgee 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 3 EPD 1 Ensembl 2 GO 2 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 2 KEGG 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 SUPFAM 1 UCSC 1 UniPathway 1 VEuPathDB 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 83
  • Mass: 9291
  • Checksum: 8DB8AE40FDAE8909
  • Sequence:
    • MLATRVFSLV GKRAISTSVC VRAHESVVKS EDFSLPAYMD RRDHPLPEVA HVKHLSASQK 
ALKEKEKASW SSLSMDEKVE CGY

Genular Protein ID: 1621839967

Symbol: H3BNV9_HUMAN

Name: N/A

UniProtKB Accession Codes:

H3BNV9

Database IDs:

ARBA 7 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 EMBL 1 EPD 1 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 InterPro 3 MassIVE 1 MaxQB 2 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PeptideAtlas 1 Pfam 1 Proteomes 2 ProteomicsDB 1 RefSeq 1 RuleBase 1 SMR 1 SUPFAM 1 UCSC 1 UniPathway 1 VEuPathDB 1

Citations:

PubMed ID: 15616553

Title: The sequence and analysis of duplication-rich human chromosome 16.

PubMed ID: 15616553

DOI: 10.1038/nature03187

PubMed ID: 19608861

Title: Lysine acetylation targets protein complexes and co-regulates major cellular functions.

PubMed ID: 19608861

DOI: 10.1126/science.1175371

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

Sequence Information:

  • Length: 139
  • Mass: 15725
  • Checksum: 13EBD2AFE2084F8C
  • Sequence:
    • MLATRVFSLV GKRAISTSVC VRAHESVVKS EDFSLPAYMD RRDHPLPEVA HVKHLSASQK 
ALKEKEKASW SSLSMDEKVE LYRIKFKESF AEMNRGSNEW KTVVGGAMFF IGFTALVIMW 
QKHYGHLGLC LSDPVIHSL

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.