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 02-DEC-2020, entry version 150. 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}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- 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 BioGRID; 121015; 89. DR IntAct; Q9BUV8; 12. DR MINT; Q9BUV8; -. DR STRING; 9606.ENSP00000341213; -. DR iPTMnet; Q9BUV8; -. DR PhosphoSitePlus; Q9BUV8; -. DR BioMuta; C20orf24; -. DR DMDM; 24211596; -. 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; 31 antibodies. DR DNASU; 55969; -. DR Ensembl; ENST00000342422; ENSP00000341213; ENSG00000101084. [Q9BUV8-5] DR Ensembl; ENST00000344795; ENSP00000340164; ENSG00000101084. [Q9BUV8-2] DR Ensembl; ENST00000373852; ENSP00000362958; ENSG00000101084. [Q9BUV8-1] DR Ensembl; ENST00000483815; ENSP00000432510; ENSG00000101084. [Q9BUV8-4] DR Ensembl; ENST00000492721; ENSP00000435871; ENSG00000101084. [Q9BUV8-4] DR GeneID; 55969; -. DR KEGG; hsa:55969; -. DR UCSC; uc002xfq.3; human. [Q9BUV8-1] DR CTD; 55969; -. DR DisGeNET; 55969; -. DR EuPathDB; HostDB:ENSG00000101084.16; -. DR GeneCards; RAB5IF; -. DR HGNC; HGNC:15870; RAB5IF. DR HPA; ENSG00000101084; Low tissue specificity. DR neXtProt; NX_Q9BUV8; -. DR OpenTargets; ENSG00000101084; -. DR PharmGKB; PA25740; -. DR eggNOG; KOG3415; Eukaryota. DR GeneTree; ENSGT00390000004786; -. DR HOGENOM; CLU_120704_1_0_1; -. DR InParanoid; Q9BUV8; -. DR OMA; WGLIPLK; -. DR OrthoDB; 1562107at2759; -. DR PhylomeDB; Q9BUV8; -. DR PathwayCommons; Q9BUV8; -. DR BioGRID-ORCS; 55969; 14 hits in 839 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 112 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; IPR010742; Rab5ip. DR InterPro; IPR029008; Rab5IP_fam. DR PANTHER; PTHR12906; PTHR12906; 1. DR Pfam; PF07019; Rab5ip; 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 //