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P24311

- COX7B_HUMAN

UniProt

P24311 - COX7B_HUMAN

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Protein
Cytochrome c oxidase subunit 7B, mitochondrial
Gene
COX7B
Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. cytochrome-c oxidase activity Source: ProtInc
Complete GO annotation...

GO - Biological processi

  1. cellular metabolic process Source: Reactome
  2. central nervous system development Source: UniProtKB
  3. hydrogen ion transmembrane transport Source: GOC
  4. respiratory electron transport chain Source: Reactome
  5. small molecule metabolic process Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_22393. Respiratory electron transport.

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: Chromosome X

Organism-specific databases

HGNCiHGNC:2291. COX7B.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini25 – 328Mitochondrial matrix By similarity
Transmembranei33 – 5927Helical; By similarity
Add
BLAST
Topological domaini60 – 8021Mitochondrial intermembrane By similarity
Add
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. mitochondrial inner membrane Source: Reactome
  3. mitochondrial respiratory chain Source: InterPro
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) [MIM:300887]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Organism-specific databases

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

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2424Mitochondrion1 Publication
Add
BLAST
Chaini25 – 8056Cytochrome c oxidase subunit 7B, mitochondrial
PRO_0000006158Add
BLAST

Proteomic databases

MaxQBiP24311.
PaxDbiP24311.
PRIDEiP24311.

PTM databases

PhosphoSiteiP24311.

Expressioni

Gene expression databases

BgeeiP24311.
CleanExiHS_COX7B.
GenevestigatoriP24311.

Organism-specific databases

HPAiHPA058041.

Interactioni

Protein-protein interaction databases

BioGridi107742. 1 interaction.
IntActiP24311. 2 interactions.
STRINGi9606.ENSP00000417656.

Structurei

3D structure databases

ProteinModelPortaliP24311.
SMRiP24311. Positions 31-78.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG46061.
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

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

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti29 – 291R → P AA sequence 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
ENST00000598404; ENSP00000470711; ENSG00000269083.
GeneIDi1349.
KEGGihsa:1349.
UCSCiuc004ecu.1. human.

Polymorphism databases

DMDMi461804.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS14437.1.
PIRi S29856. OSHU7B.
RefSeqi NP_001857.1. NM_001866.2.
UniGenei Hs.522699.

3D structure databases

ProteinModelPortali P24311.
SMRi P24311. Positions 31-78.
ModBasei Search...

Protein-protein interaction databases

BioGridi 107742. 1 interaction.
IntActi P24311. 2 interactions.
STRINGi 9606.ENSP00000417656.

PTM databases

PhosphoSitei P24311.

Polymorphism databases

DMDMi 461804.

Proteomic databases

MaxQBi P24311.
PaxDbi P24311.
PRIDEi P24311.

Protocols and materials databases

DNASUi 1349.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000481445 ; ENSP00000417656 ; ENSG00000131174 .
ENST00000598404 ; ENSP00000470711 ; ENSG00000269083 .
GeneIDi 1349.
KEGGi hsa:1349.
UCSCi uc004ecu.1. human.

Organism-specific databases

CTDi 1349.
GeneCardsi GC0XP077154.
HGNCi HGNC:2291. COX7B.
HPAi HPA058041.
MIMi 300885. gene.
300887. phenotype.
neXtProti NX_P24311.
Orphaneti 2556. Microphthalmia with linear skin defects syndrome.
PharmGKBi PA26809.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG46061.
HOGENOMi HOG000059529.
HOVERGENi HBG051092.
InParanoidi P24311.
KOi K02271.
OMAi AVWAYTA.
OrthoDBi EOG7T7GWR.
PhylomeDBi P24311.
TreeFami TF105068.

Enzyme and pathway databases

Reactomei REACT_22393. Respiratory electron transport.

Miscellaneous databases

GeneWikii COX7B.
GenomeRNAii 1349.
NextBioi 5467.
PROi P24311.
SOURCEi Search...

Gene expression databases

Bgeei P24311.
CleanExi HS_COX7B.
Genevestigatori P24311.

Family and domain databases

Gene3Di 4.10.51.10. 1 hit.
InterProi IPR008433. Cyt_c_oxidase_suVIIB.
IPR023272. Cyt_c_oxidase_suVIIB_dom.
[Graphical view ]
PANTHERi PTHR16716. PTHR16716. 1 hit.
Pfami PF05392. COX7B. 1 hit.
[Graphical view ]
SUPFAMi SSF81423. SSF81423. 1 hit.
ProtoNeti Search...

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: September 3, 2014
This is version 129 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

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