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Protein

HIG1 domain family member 2A, mitochondrial

Gene

HIGD2A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at protein leveli

Functioni

Proposed subunit of cytochrome c oxidase (COX, complex IV), which is the terminal component of the mitochondrial respiratory chain that catalyzes the reduction of oxygen to water. May be involved in cytochrome c oxidase activity. May play a role in the assembly of respiratory supercomplexes.1 Publication

GO - Biological processi

  • negative regulation of apoptotic process Source: MGI
  • oxidation-reduction process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Electron transport, Respiratory chain, Transport

Names & Taxonomyi

Protein namesi
Recommended name:
HIG1 domain family member 2A, mitochondrial
Alternative name(s):
RCF1 homolog B
Short name:
RCF1b
Gene namesi
Name:HIGD2A
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:28311. HIGD2A.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei47 – 6721HelicalPROSITE-ProRule annotationAdd
BLAST
Transmembranei83 – 10321HelicalPROSITE-ProRule annotationAdd
BLAST
Topological domaini104 – 1063Mitochondrial matrixSequence analysis

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671685.

Polymorphism and mutation databases

BioMutaiHIGD2A.
DMDMi74733402.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methionineiRemovedCombined sources
Chaini2 – 106105HIG1 domain family member 2A, mitochondrialPRO_0000215777Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanineCombined sources

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9BW72.
MaxQBiQ9BW72.
PaxDbiQ9BW72.
PeptideAtlasiQ9BW72.
PRIDEiQ9BW72.
TopDownProteomicsiQ9BW72.

PTM databases

iPTMnetiQ9BW72.
PhosphoSiteiQ9BW72.
SwissPalmiQ9BW72.

Expressioni

Gene expression databases

BgeeiQ9BW72.
CleanExiHS_HIGD2A.
ExpressionAtlasiQ9BW72. baseline and differential.
GenevisibleiQ9BW72. HS.

Organism-specific databases

HPAiHPA042715.

Interactioni

Subunit structurei

Associates with cytochrome c oxidase (COX, complex IV); proposed complex component.1 Publication

Protein-protein interaction databases

BioGridi128172. 4 interactions.
IntActiQ9BW72. 1 interaction.
STRINGi9606.ENSP00000274787.

Structurei

3D structure databases

ProteinModelPortaliQ9BW72.
SMRiQ9BW72. Positions 37-104.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini20 – 10687HIG1PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 HIG1 domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4431. Eukaryota.
ENOG41121ET. LUCA.
GeneTreeiENSGT00390000010724.
HOGENOMiHOG000234513.
HOVERGENiHBG054361.
InParanoidiQ9BW72.
OMAiEDLDWIQ.
OrthoDBiEOG7GN2R1.
PhylomeDBiQ9BW72.
TreeFamiTF314628.

Family and domain databases

InterProiIPR007667. Hypoxia_induced_domain.
[Graphical view]
PfamiPF04588. HIG_1_N. 1 hit.
[Graphical view]
PROSITEiPS51503. HIG1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

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

Q9BW72-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MATPGPVIPE VPFEPSKPPV IEGLSPTVYR NPESFKEKFV RKTRENPVVP
60 70 80 90 100
IGCLATAAAL TYGLYSFHRG NSQRSQLMMR TRIAAQGFTV AAILLGLAVT

AMKSRP
Length:106
Mass (Da):11,529
Last modified:June 1, 2001 - v1
Checksum:i205DE0AE39950053
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC000587 mRNA. No translation available.
BC007502 mRNA. Translation: AAH07502.1.
CCDSiCCDS4401.1.
RefSeqiNP_620175.1. NM_138820.2.
UniGeneiHs.534575.

Genome annotation databases

EnsembliENST00000274787; ENSP00000274787; ENSG00000146066.
GeneIDi192286.
KEGGihsa:192286.
UCSCiuc003meg.4. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
BC000587 mRNA. No translation available.
BC007502 mRNA. Translation: AAH07502.1.
CCDSiCCDS4401.1.
RefSeqiNP_620175.1. NM_138820.2.
UniGeneiHs.534575.

3D structure databases

ProteinModelPortaliQ9BW72.
SMRiQ9BW72. Positions 37-104.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128172. 4 interactions.
IntActiQ9BW72. 1 interaction.
STRINGi9606.ENSP00000274787.

PTM databases

iPTMnetiQ9BW72.
PhosphoSiteiQ9BW72.
SwissPalmiQ9BW72.

Polymorphism and mutation databases

BioMutaiHIGD2A.
DMDMi74733402.

Proteomic databases

EPDiQ9BW72.
MaxQBiQ9BW72.
PaxDbiQ9BW72.
PeptideAtlasiQ9BW72.
PRIDEiQ9BW72.
TopDownProteomicsiQ9BW72.

Protocols and materials databases

DNASUi192286.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000274787; ENSP00000274787; ENSG00000146066.
GeneIDi192286.
KEGGihsa:192286.
UCSCiuc003meg.4. human.

Organism-specific databases

CTDi192286.
GeneCardsiHIGD2A.
H-InvDBHIX0005440.
HIX0038135.
HGNCiHGNC:28311. HIGD2A.
HPAiHPA042715.
neXtProtiNX_Q9BW72.
PharmGKBiPA142671685.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4431. Eukaryota.
ENOG41121ET. LUCA.
GeneTreeiENSGT00390000010724.
HOGENOMiHOG000234513.
HOVERGENiHBG054361.
InParanoidiQ9BW72.
OMAiEDLDWIQ.
OrthoDBiEOG7GN2R1.
PhylomeDBiQ9BW72.
TreeFamiTF314628.

Miscellaneous databases

ChiTaRSiHIGD2A. human.
GenomeRNAii192286.
NextBioi89352.
PROiQ9BW72.

Gene expression databases

BgeeiQ9BW72.
CleanExiHS_HIGD2A.
ExpressionAtlasiQ9BW72. baseline and differential.
GenevisibleiQ9BW72. HS.

Family and domain databases

InterProiIPR007667. Hypoxia_induced_domain.
[Graphical view]
PfamiPF04588. HIG_1_N. 1 hit.
[Graphical view]
PROSITEiPS51503. HIG1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "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: Muscle and Skin.
  2. "Rcf1 mediates cytochrome oxidase assembly and respirasome formation, revealing heterogeneity of the enzyme complex."
    Vukotic M., Oeljeklaus S., Wiese S., Vogtle F.N., Meisinger C., Meyer H.E., Zieseniss A., Katschinski D.M., Jans D.C., Jakobs S., Warscheid B., Rehling P., Deckers M.
    Cell Metab. 15:336-347(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBUNIT, SUBCELLULAR LOCATION.
  3. Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiHIG2A_HUMAN
AccessioniPrimary (citable) accession number: Q9BW72
Entry historyi
Integrated into UniProtKB/Swiss-Prot: September 27, 2005
Last sequence update: June 1, 2001
Last modified: May 11, 2016
This is version 104 of the entry and version 1 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, Reference proteome

Documents

  1. Human chromosome 5
    Human chromosome 5: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families

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 one 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.