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Protein

Cytochrome c oxidase subunit 7B, mitochondrial

Gene

COX7B

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

This protein is one of the nuclear-coded polypeptide chains of cytochrome c oxidase, the terminal oxidase in mitochondrial electron transport. Plays a role in proper central nervous system (CNS) development in vertebrates.1 Publication

GO - Molecular functioni

  • cytochrome-c oxidase activity Source: ProtInc

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.
REACT_355377. TP53 Regulates Metabolic Genes.

Names & Taxonomyi

Protein namesi
Recommended name:
Cytochrome c oxidase subunit 7B, mitochondrial
Alternative name(s):
Cytochrome c oxidase polypeptide VIIb
Gene namesi
Name:COX7B
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:2291. COX7B.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini25 – 328Mitochondrial matrixBy similarity
Transmembranei33 – 5927HelicalBy similarityAdd
BLAST
Topological domaini60 – 8021Mitochondrial intermembraneBy similarityAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Involvement in diseasei

Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies (APLCC)1 Publication

The disease is caused by mutations affecting the gene represented in this entry.

Disease descriptionA distinct form of aplasia cutis congenita presenting as multiple linear skin defects on the face and neck associated with poor growth, microcephaly, and facial dysmorphism. Additional features include intellectual disability, nail dystrophy, short stature and cardiac abnormalities.

See also OMIM:300887

Organism-specific databases

MIMi300887. phenotype.
Orphaneti2556. Microphthalmia with linear skin defects syndrome.
PharmGKBiPA26809.

Chemistry

DrugBankiDB02659. Cholic Acid.

Polymorphism and mutation databases

BioMutaiCOX7B.
DMDMi461804.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2424Mitochondrion1 PublicationAdd
BLAST
Chaini25 – 8056Cytochrome c oxidase subunit 7B, mitochondrialPRO_0000006158Add
BLAST

Proteomic databases

MaxQBiP24311.
PaxDbiP24311.
PRIDEiP24311.

PTM databases

PhosphoSiteiP24311.

Expressioni

Gene expression databases

BgeeiP24311.
CleanExiHS_COX7B.
GenevisibleiP24311. HS.

Organism-specific databases

HPAiHPA058041.

Interactioni

Protein-protein interaction databases

IntActiP24311. 2 interactions.
STRINGi9606.ENSP00000417656.

Structurei

3D structure databases

ProteinModelPortaliP24311.
SMRiP24311. Positions 31-78.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the cytochrome c oxidase VIIb family.Curated

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG46061.
GeneTreeiENSGT00390000012178.
HOGENOMiHOG000059529.
HOVERGENiHBG051092.
InParanoidiP24311.
KOiK02271.
OMAiAVWAYTA.
OrthoDBiEOG7T7GWR.
PhylomeDBiP24311.
TreeFamiTF105068.

Family and domain databases

Gene3Di4.10.51.10. 1 hit.
InterProiIPR008433. Cyt_c_oxidase_suVIIB.
IPR023272. Cyt_c_oxidase_suVIIB_dom.
[Graphical view]
PANTHERiPTHR16716. PTHR16716. 1 hit.
PfamiPF05392. COX7B. 1 hit.
[Graphical view]
SUPFAMiSSF81423. SSF81423. 1 hit.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P24311-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MFPLVKSALN RLQVRSIQQT MARQSHQKRT PDFHDKYGNA VLASGATFCI
60 70 80
VTWTYVATQV GIEWNLSPVG RVTPKEWRNQ
Length:80
Mass (Da):9,161
Last modified:February 1, 1994 - v2
Checksum:i1EE75BD1AA253E59
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti29 – 291R → P AA sequence (PubMed:1309697).Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z14244 mRNA. Translation: CAA78613.1.
BT009767 mRNA. Translation: AAP88769.1.
CR450332 mRNA. Translation: CAG29328.1.
CR542124 mRNA. Translation: CAG46921.1.
AK311879 mRNA. Translation: BAG34820.1.
AL356235 Genomic DNA. Translation: CAH70525.1.
CH471104 Genomic DNA. Translation: EAW98607.1.
BC018386 mRNA. Translation: AAH18386.1.
CCDSiCCDS14437.1.
PIRiS29856. OSHU7B.
RefSeqiNP_001857.1. NM_001866.2.
UniGeneiHs.522699.

Genome annotation databases

EnsembliENST00000481445; ENSP00000417656; ENSG00000131174.
GeneIDi1349.
KEGGihsa:1349.
UCSCiuc004ecu.1. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
Z14244 mRNA. Translation: CAA78613.1.
BT009767 mRNA. Translation: AAP88769.1.
CR450332 mRNA. Translation: CAG29328.1.
CR542124 mRNA. Translation: CAG46921.1.
AK311879 mRNA. Translation: BAG34820.1.
AL356235 Genomic DNA. Translation: CAH70525.1.
CH471104 Genomic DNA. Translation: EAW98607.1.
BC018386 mRNA. Translation: AAH18386.1.
CCDSiCCDS14437.1.
PIRiS29856. OSHU7B.
RefSeqiNP_001857.1. NM_001866.2.
UniGeneiHs.522699.

3D structure databases

ProteinModelPortaliP24311.
SMRiP24311. Positions 31-78.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

IntActiP24311. 2 interactions.
STRINGi9606.ENSP00000417656.

Chemistry

DrugBankiDB02659. Cholic Acid.

PTM databases

PhosphoSiteiP24311.

Polymorphism and mutation databases

BioMutaiCOX7B.
DMDMi461804.

Proteomic databases

MaxQBiP24311.
PaxDbiP24311.
PRIDEiP24311.

Protocols and materials databases

DNASUi1349.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000481445; ENSP00000417656; ENSG00000131174.
GeneIDi1349.
KEGGihsa:1349.
UCSCiuc004ecu.1. human.

Organism-specific databases

CTDi1349.
GeneCardsiGC0XP077154.
HGNCiHGNC:2291. COX7B.
HPAiHPA058041.
MIMi300885. gene.
300887. phenotype.
neXtProtiNX_P24311.
Orphaneti2556. Microphthalmia with linear skin defects syndrome.
PharmGKBiPA26809.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG46061.
GeneTreeiENSGT00390000012178.
HOGENOMiHOG000059529.
HOVERGENiHBG051092.
InParanoidiP24311.
KOiK02271.
OMAiAVWAYTA.
OrthoDBiEOG7T7GWR.
PhylomeDBiP24311.
TreeFamiTF105068.

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.
REACT_355377. TP53 Regulates Metabolic Genes.

Miscellaneous databases

ChiTaRSiCOX7B. human.
GeneWikiiCOX7B.
GenomeRNAii1349.
NextBioi5467.
PROiP24311.
SOURCEiSearch...

Gene expression databases

BgeeiP24311.
CleanExiHS_COX7B.
GenevisibleiP24311. HS.

Family and domain databases

Gene3Di4.10.51.10. 1 hit.
InterProiIPR008433. Cyt_c_oxidase_suVIIB.
IPR023272. Cyt_c_oxidase_suVIIB_dom.
[Graphical view]
PANTHERiPTHR16716. PTHR16716. 1 hit.
PfamiPF05392. COX7B. 1 hit.
[Graphical view]
SUPFAMiSSF81423. SSF81423. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase."
    Sadlock J.E., Lightowlers R.N., Capaldi R.A., Schon E.A.
    Biochim. Biophys. Acta 1172:223-225(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  3. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.
    Submitted (MAY-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. "Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)."
    Halleck A., Ebert L., Mkoundinya M., Schick M., Eisenstein S., Neubert P., Kstrang K., Schatten R., Shen B., Henze S., Mar W., Korn B., Zuo D., Hu Y., LaBaer J.
    Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  6. "The DNA sequence of the human X chromosome."
    Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.
    , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
    Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Ovary.
  9. "Subunits VIIa,b,c of human cytochrome c oxidase. Identification of both 'heart-type' and 'liver-type' isoforms of subunit VIIa in human heart."
    van Kuilenburg A.B.P., van Beeumen J.J., van der Meer N.M., Muijsers A.O.
    Eur. J. Biochem. 203:193-199(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROTEIN SEQUENCE OF 25-43.
    Tissue: Heart.
  10. "Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease."
    Indrieri A., van Rahden V.A., Tiranti V., Morleo M., Iaconis D., Tammaro R., D'Amato I., Conte I., Maystadt I., Demuth S., Zvulunov A., Kutsche K., Zeviani M., Franco B.
    Am. J. Hum. Genet. 91:942-949(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INVOLVEMENT IN APLCC.

Entry informationi

Entry nameiCOX7B_HUMAN
AccessioniPrimary (citable) accession number: P24311
Secondary accession number(s): B2R4M3, Q6ICR1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: February 1, 1994
Last modified: July 22, 2015
This is version 139 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.