HIG2A_HUMAN
ID HIG2A_HUMAN Reviewed; 106 AA.
AC Q9BW72;
DT 27-SEP-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 144.
DE RecName: Full=HIG1 domain family member 2A, mitochondrial;
DE AltName: Full=RCF1 homolog B;
DE Short=RCF1b;
GN Name=HIGD2A;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Muscle, and Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [2]
RP FUNCTION, SUBUNIT, AND SUBCELLULAR LOCATION.
RX PubMed=22342701; DOI=10.1016/j.cmet.2012.01.016;
RA Vukotic M., Oeljeklaus S., Wiese S., Vogtle F.N., Meisinger C., Meyer H.E.,
RA Zieseniss A., Katschinski D.M., Jans D.C., Jakobs S., Warscheid B.,
RA Rehling P., Deckers M.;
RT "Rcf1 mediates cytochrome oxidase assembly and respirasome formation,
RT revealing heterogeneity of the enzyme complex.";
RL Cell Metab. 15:336-347(2012).
RN [3]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=25944712; DOI=10.1002/pmic.201400617;
RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT "N-terminome analysis of the human mitochondrial proteome.";
RL Proteomics 15:2519-2524(2015).
CC -!- FUNCTION: Proposed subunit of cytochrome c oxidase (COX, complex IV),
CC which is the terminal component of the mitochondrial respiratory chain
CC that catalyzes the reduction of oxygen to water. May be involved in
CC cytochrome c oxidase activity. May play a role in the assembly of
CC respiratory supercomplexes. {ECO:0000269|PubMed:22342701}.
CC -!- SUBUNIT: Associates with cytochrome c oxidase (COX, complex IV);
CC proposed complex component. {ECO:0000269|PubMed:22342701}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion membrane {ECO:0000255|PROSITE-
CC ProRule:PRU00836, ECO:0000269|PubMed:22342701}; Multi-pass membrane
CC protein {ECO:0000255|PROSITE-ProRule:PRU00836,
CC ECO:0000269|PubMed:22342701}. Mitochondrion inner membrane
CC {ECO:0000305|PubMed:22342701}.
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DR EMBL; BC000587; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC007502; AAH07502.1; -; mRNA.
DR CCDS; CCDS4401.1; -.
DR RefSeq; NP_620175.1; NM_138820.3.
DR AlphaFoldDB; Q9BW72; -.
DR SMR; Q9BW72; -.
DR BioGRID; 128172; 20.
DR IntAct; Q9BW72; 9.
DR STRING; 9606.ENSP00000274787; -.
DR TCDB; 8.A.112.1.5; the respiratory supercomplex factor (rcf) family.
DR iPTMnet; Q9BW72; -.
DR MetOSite; Q9BW72; -.
DR PhosphoSitePlus; Q9BW72; -.
DR SwissPalm; Q9BW72; -.
DR BioMuta; HIGD2A; -.
DR DMDM; 74733402; -.
DR EPD; Q9BW72; -.
DR jPOST; Q9BW72; -.
DR MassIVE; Q9BW72; -.
DR MaxQB; Q9BW72; -.
DR PaxDb; Q9BW72; -.
DR PeptideAtlas; Q9BW72; -.
DR PRIDE; Q9BW72; -.
DR ProteomicsDB; 79260; -.
DR TopDownProteomics; Q9BW72; -.
DR Antibodypedia; 63622; 80 antibodies from 20 providers.
DR DNASU; 192286; -.
DR Ensembl; ENST00000274787.3; ENSP00000274787.2; ENSG00000146066.3.
DR GeneID; 192286; -.
DR KEGG; hsa:192286; -.
DR MANE-Select; ENST00000274787.3; ENSP00000274787.2; NM_138820.4; NP_620175.1.
DR UCSC; uc003meg.4; human.
DR CTD; 192286; -.
DR DisGeNET; 192286; -.
DR GeneCards; HIGD2A; -.
DR HGNC; HGNC:28311; HIGD2A.
DR HPA; ENSG00000146066; Low tissue specificity.
DR neXtProt; NX_Q9BW72; -.
DR PharmGKB; PA142671685; -.
DR VEuPathDB; HostDB:ENSG00000146066; -.
DR eggNOG; KOG4431; Eukaryota.
DR GeneTree; ENSGT00910000144291; -.
DR HOGENOM; CLU_087356_4_0_1; -.
DR InParanoid; Q9BW72; -.
DR OMA; FHRGHSQ; -.
DR OrthoDB; 1307900at2759; -.
DR PhylomeDB; Q9BW72; -.
DR TreeFam; TF314628; -.
DR PathwayCommons; Q9BW72; -.
DR SignaLink; Q9BW72; -.
DR BioGRID-ORCS; 192286; 139 hits in 1047 CRISPR screens.
DR GenomeRNAi; 192286; -.
DR Pharos; Q9BW72; Tbio.
DR PRO; PR:Q9BW72; -.
DR Proteomes; UP000005640; Chromosome 5.
DR RNAct; Q9BW72; protein.
DR Bgee; ENSG00000146066; Expressed in hindlimb stylopod muscle and 95 other tissues.
DR ExpressionAtlas; Q9BW72; baseline and differential.
DR Genevisible; Q9BW72; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005743; C:mitochondrial inner membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central.
DR GO; GO:0070469; C:respirasome; IEA:UniProtKB-KW.
DR GO; GO:0097250; P:mitochondrial respirasome assembly; IBA:GO_Central.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IDA:MGI.
DR InterPro; IPR007667; Hypoxia_induced_domain.
DR Pfam; PF04588; HIG_1_N; 1.
DR PROSITE; PS51503; HIG1; 1.
PE 1: Evidence at protein level;
KW Acetylation; Electron transport; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Respiratory chain;
KW Transmembrane; Transmembrane helix; Transport.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:25944712"
FT CHAIN 2..106
FT /note="HIG1 domain family member 2A, mitochondrial"
FT /id="PRO_0000215777"
FT TRANSMEM 47..67
FT /note="Helical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00836"
FT TRANSMEM 83..103
FT /note="Helical"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00836"
FT TOPO_DOM 104..106
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000255"
FT DOMAIN 20..106
FT /note="HIG1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00836"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:25944712"
SQ SEQUENCE 106 AA; 11529 MW; 205DE0AE39950053 CRC64;
MATPGPVIPE VPFEPSKPPV IEGLSPTVYR NPESFKEKFV RKTRENPVVP IGCLATAAAL
TYGLYSFHRG NSQRSQLMMR TRIAAQGFTV AAILLGLAVT AMKSRP
