RCAF1_HUMAN
ID RCAF1_HUMAN Reviewed; 137 AA.
AC Q9BUV8; E1P5U0; O00605; Q5QPG6; Q5QPG7; Q9BT03; Q9BZU7; Q9UI05;
DT 19-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 1.
DT 03-AUG-2022, entry version 157.
DE RecName: Full=Respirasome Complex Assembly Factor 1 {ECO:0000303|PubMed:31536960};
DE AltName: Full=Rab5-interacting protein {ECO:0000312|HGNC:HGNC:15870};
DE Short=RIP5 {ECO:0000312|HGNC:HGNC:15870};
GN Name=RAB5IF {ECO:0000312|HGNC:HGNC:15870};
GN Synonyms=C20orf24 {ECO:0000312|HGNC:HGNC:15870},
GN RCAF1 {ECO:0000303|PubMed:31536960}; ORFNames=PNAS-11;
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 [MRNA] (ISOFORM 2).
RC TISSUE=Adrenal gland;
RA Jiang C., Zhang C., Huang C., Peng Y., Gu Y., Zhang L., Wu T., Li Y.,
RA Han Z., Wang Y., Chen Z., Fu G.;
RT "A novel gene expressed in human adrenal gland.";
RL Submitted (DEC-1998) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Promyelocytic leukemia;
RA Yu W.-Q., Sun B.-Z., Chai Y.-B., Zhu F., Liu X.-S., Li Z., Lu F., Yan W.,
RA Yang H., Zhao Z.-L.;
RT "Human acute promyelocytic leukemia cell line NB4's apoptosis related
RT genes.";
RL Submitted (JUN-2000) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4).
RC TISSUE=Lung, 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 [6]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 15-137 (ISOFORM 1).
RX PubMed=8824393; DOI=10.1101/sqb.1995.060.01.024;
RA Vitale G., Alexandrov K., Ullrich O., Horiuchi H., Giner A., Dobson C.,
RA Baykova O., Gournier H., Stenmark H., Zerial M.;
RT "The GDP/GTP cycle of Rab5 in the regulation of endocytotic membrane
RT traffic.";
RL Cold Spring Harb. Symp. Quant. Biol. 60:211-220(1995).
RN [7]
RP SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
RX PubMed=14759258; DOI=10.1186/gb-2004-5-2-r8;
RA Hillman R.T., Green R.E., Brenner S.E.;
RT "An unappreciated role for RNA surveillance.";
RL Genome Biol. 5:R8.1-R8.16(2004).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY, FUNCTION, INTERACTION WITH NDUFS3;
RP NDUFA4; NDUFV1; NDUFA9; NDUFS8; UQCRC2; COX5A AND COX7C, SUBCELLULAR
RP LOCATION, AND TISSUE SPECIFICITY.
RX PubMed=31536960; DOI=10.1016/j.isci.2019.08.057;
RA Moutaoufik M.T., Malty R., Amin S., Zhang Q., Phanse S., Gagarinova A.,
RA Zilocchi M., Hoell L., Minic Z., Gagarinova M., Aoki H., Stockwell J.,
RA Jessulat M., Goebels F., Broderick K., Scott N.E., Vlasblom J., Musso G.,
RA Prasad B., Lamantea E., Garavaglia B., Rajput A., Murayama K., Okazaki Y.,
RA Foster L.J., Bader G.D., Cayabyab F.S., Babu M.;
RT "Rewiring of the Human Mitochondrial Interactome during Neuronal
RT Reprogramming Reveals Regulators of the Respirasome and Neurogenesis.";
RL IScience 19:1114-1132(2019).
CC -!- FUNCTION: Acts as an assembly factor for mitochondrial respiratory
CC complexes. {ECO:0000269|PubMed:31536960}.
CC -!- SUBUNIT: Interacts with NDUFS3, NDUFA4, NDUFV1, NDUFA9 and NDUFS8 of
CC the mitochondrial membrane respiratory chain NADH dehydrogenase
CC (Complex I) (PubMed:31536960). Interacts with UQCRC2 of the ubiquinol-
CC cytochrome c reductase complex (Complex III) (PubMed:31536960).
CC Interacts with COX5A and COX7C of the cytochrome c oxidase complex
CC (Complex IV) (PubMed:31536960). {ECO:0000269|PubMed:31536960}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:31536960}; Multi-pass membrane protein
CC {ECO:0000255}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Comment=Experimental confirmation may be lacking for some isoforms.;
CC Name=1;
CC IsoId=Q9BUV8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BUV8-2; Sequence=VSP_003796;
CC Name=3;
CC IsoId=Q9BUV8-3; Sequence=VSP_003797;
CC Name=4;
CC IsoId=Q9BUV8-4; Sequence=VSP_003795;
CC Name=5;
CC IsoId=Q9BUV8-5; Sequence=VSP_047233;
CC -!- TISSUE SPECIFICITY: Expressed in embryonic stem cells and
CC differentiated neuronal cells. {ECO:0000269|PubMed:31536960}.
CC -!- MISCELLANEOUS: [Isoform 4]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
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DR EMBL; AF112213; AAF17201.1; -; mRNA.
DR EMBL; AF274936; AAK07515.1; -; mRNA.
DR EMBL; AL050318; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471077; EAW76122.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW76120.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW76123.1; -; Genomic_DNA.
DR EMBL; CH471077; EAW76124.1; -; Genomic_DNA.
DR EMBL; BC001871; AAH01871.1; -; mRNA.
DR EMBL; BC004446; AAH04446.1; -; mRNA.
DR EMBL; S83364; AAB50849.1; -; mRNA.
DR CCDS; CCDS13279.1; -. [Q9BUV8-5]
DR CCDS; CCDS13280.1; -. [Q9BUV8-2]
DR CCDS; CCDS56190.1; -. [Q9BUV8-1]
DR RefSeq; NP_001186463.1; NM_001199534.1. [Q9BUV8-1]
DR RefSeq; NP_061328.1; NM_018840.4. [Q9BUV8-2]
DR RefSeq; NP_955777.1; NM_199483.2. [Q9BUV8-5]
DR AlphaFoldDB; Q9BUV8; -.
DR SMR; Q9BUV8; -.
DR BioGRID; 121015; 97.
DR IntAct; Q9BUV8; 12.
DR MINT; Q9BUV8; -.
DR STRING; 9606.ENSP00000341213; -.
DR iPTMnet; Q9BUV8; -.
DR PhosphoSitePlus; Q9BUV8; -.
DR BioMuta; C20orf24; -.
DR DMDM; 24211596; -.
DR EPD; Q9BUV8; -.
DR jPOST; Q9BUV8; -.
DR MassIVE; Q9BUV8; -.
DR MaxQB; Q9BUV8; -.
DR PaxDb; Q9BUV8; -.
DR PeptideAtlas; Q9BUV8; -.
DR PRIDE; Q9BUV8; -.
DR ProteomicsDB; 63658; -.
DR ProteomicsDB; 79136; -. [Q9BUV8-1]
DR ProteomicsDB; 79137; -. [Q9BUV8-2]
DR ProteomicsDB; 79138; -. [Q9BUV8-3]
DR ProteomicsDB; 79139; -. [Q9BUV8-4]
DR TopDownProteomics; Q9BUV8-2; -. [Q9BUV8-2]
DR TopDownProteomics; Q9BUV8-4; -. [Q9BUV8-4]
DR Antibodypedia; 26537; 35 antibodies from 12 providers.
DR DNASU; 55969; -.
DR Ensembl; ENST00000342422.3; ENSP00000341213.3; ENSG00000101084.19. [Q9BUV8-5]
DR Ensembl; ENST00000344795.8; ENSP00000340164.3; ENSG00000101084.19. [Q9BUV8-2]
DR Ensembl; ENST00000373852.9; ENSP00000362958.5; ENSG00000101084.19. [Q9BUV8-1]
DR Ensembl; ENST00000483815.5; ENSP00000432510.1; ENSG00000101084.19. [Q9BUV8-4]
DR Ensembl; ENST00000492721.5; ENSP00000435871.1; ENSG00000101084.19. [Q9BUV8-4]
DR GeneID; 55969; -.
DR KEGG; hsa:55969; -.
DR MANE-Select; ENST00000344795.8; ENSP00000340164.3; NM_018840.5; NP_061328.1. [Q9BUV8-2]
DR UCSC; uc002xfq.3; human. [Q9BUV8-1]
DR CTD; 55969; -.
DR DisGeNET; 55969; -.
DR GeneCards; RAB5IF; -.
DR HGNC; HGNC:15870; RAB5IF.
DR HPA; ENSG00000101084; Tissue enhanced (skeletal).
DR neXtProt; NX_Q9BUV8; -.
DR OpenTargets; ENSG00000101084; -.
DR PharmGKB; PA25740; -.
DR VEuPathDB; HostDB:ENSG00000101084; -.
DR eggNOG; KOG3415; Eukaryota.
DR GeneTree; ENSGT00390000004786; -.
DR HOGENOM; CLU_120704_1_0_1; -.
DR InParanoid; Q9BUV8; -.
DR OMA; ITANSEW; -.
DR OrthoDB; 1562107at2759; -.
DR PhylomeDB; Q9BUV8; -.
DR PathwayCommons; Q9BUV8; -.
DR SignaLink; Q9BUV8; -.
DR BioGRID-ORCS; 55969; 20 hits in 1064 CRISPR screens.
DR ChiTaRS; C20orf24; human.
DR GenomeRNAi; 55969; -.
DR Pharos; Q9BUV8; Tdark.
DR PRO; PR:Q9BUV8; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9BUV8; protein.
DR Bgee; ENSG00000101084; Expressed in lower esophagus mucosa and 97 other tissues.
DR ExpressionAtlas; Q9BUV8; baseline and differential.
DR Genevisible; Q9BUV8; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005746; C:mitochondrial respirasome; IMP:UniProtKB.
DR GO; GO:0097250; P:mitochondrial respirasome assembly; IMP:UniProtKB.
DR InterPro; IPR029008; EMC6-like.
DR InterPro; IPR010742; RCAF1.
DR PANTHER; PTHR12906; PTHR12906; 1.
DR Pfam; PF07019; EMC6; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Membrane; Mitochondrion;
KW Mitochondrion inner membrane; Reference proteome; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..137
FT /note="Respirasome Complex Assembly Factor 1"
FT /id="PRO_0000079415"
FT TRANSMEM 45..64
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 68..90
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 74..137
FT /note="FCLINAGVLYLYFSNYLQIDEEEYGGTWELTKEGFMTSFALFMVCVADSFTT
FT GHLDHLLHCHPL -> KGHCCSGAVCVCDD (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_003795"
FT VAR_SEQ 74..137
FT /note="FCLINAGVLYLYFSNYLQIDEEEYGGTWELTKEGFMTSFALFMVCVADSFTT
FT GHLDHLLHCHPL -> SFGSSFTLPSIMTDGVQLPSAPYPVQRTLLITAQELDRWGTPA
FT PWNLEDPCFLDRESVCWASVFSARVVT (in isoform 5)"
FT /evidence="ECO:0000305"
FT /id="VSP_047233"
FT VAR_SEQ 118..137
FT /note="CVADSFTTGHLDHLLHCHPL -> IWIIFYTAIHYD (in isoform 2)"
FT /evidence="ECO:0000303|Ref.1"
FT /id="VSP_003796"
FT VAR_SEQ 118..127
FT /note="CVADSFTTGH -> I (in isoform 3)"
FT /evidence="ECO:0000303|Ref.2"
FT /id="VSP_003797"
FT CONFLICT 15..33
FT /note="LANGALKVSVWSKVLRSDA -> PWANGASKSPSGVRCCGRR (in Ref.
FT 6; AAB50849)"
FT /evidence="ECO:0000305"
FT CONFLICT 95..100
FT /note="EEYGGT -> GRILVAR (in Ref. 2; AAK07515)"
FT /evidence="ECO:0000305"
FT CONFLICT 100
FT /note="T -> Q (in Ref. 6; AAB50849)"
FT /evidence="ECO:0000305"
FT CONFLICT 110
FT /note="T -> P (in Ref. 6; AAB50849)"
FT /evidence="ECO:0000305"
FT CONFLICT 114..137
FT /note="LFMVCVADSFTTGHLDHLLHCHPL -> IVHGHLLLLFTSHPYSMMVSDSK
FT (in Ref. 6; AAB50849)"
FT /evidence="ECO:0000305"
FT CONFLICT 137
FT /note="L -> FIT (in Ref. 2; AAK07515)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 137 AA; 15487 MW; 4DC7A8E5D61B4C57 CRC64;
MSGGRRKEEP PQPQLANGAL KVSVWSKVLR SDAAWEDKDE FLDVIYWFRQ IIAVVLGVIW
GVLPLRGFLG IAGFCLINAG VLYLYFSNYL QIDEEEYGGT WELTKEGFMT SFALFMVCVA
DSFTTGHLDH LLHCHPL
