LOCUS       NM_018840               1069 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens RAB5 interacting factor (RAB5IF), transcript variant
            1, mRNA.
ACCESSION   NM_018840
VERSION     NM_018840.5
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1069)
  AUTHORS   Sundaram,A., Yamsek,M., Zhong,F., Hooda,Y., Hegde,R.S. and
            Keenan,R.J.
  TITLE     Substrate-driven assembly of a translocon for multipass membrane
            proteins
  JOURNAL   Nature 611 (7934), 167-172 (2022)
   PUBMED   36261522
REFERENCE   2  (bases 1 to 1069)
  AUTHORS   Koo,J.I., Lee,H.J., Jung,J.H., Im,E., Kim,J.H., Shin,N., Sim,D.Y.,
            Hwang,J. and Kim,S.H.
  TITLE     The Pivotal Role of Long Noncoding RNA RAB5IF in the Proliferation
            of Hepatocellular Carcinoma Via LGR5 Mediated beta-Catenin and
            c-Myc Signaling
  JOURNAL   Biomolecules 9 (11), 718 (2019)
   PUBMED   31717443
  REMARK    GeneRIF: The Pivotal Role of Long Noncoding RNA RAB5IF in the
            Proliferation of Hepatocellular Carcinoma Via LGR5 Mediated
            beta-Catenin and c-Myc Signaling.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1069)
  AUTHORS   Moutaoufik,M.T., Malty,R., Amin,S., Zhang,Q., Phanse,S.,
            Gagarinova,A., Zilocchi,M., Hoell,L., Minic,Z., Gagarinova,M.,
            Aoki,H., Stockwell,J., Jessulat,M., Goebels,F., Broderick,K.,
            Scott,N.E., Vlasblom,J., Musso,G., Prasad,B., Lamantea,E.,
            Garavaglia,B., Rajput,A., Murayama,K., Okazaki,Y., Foster,L.J.,
            Bader,G.D., Cayabyab,F.S. and Babu,M.
  TITLE     Rewiring of the Human Mitochondrial Interactome during Neuronal
            Reprogramming Reveals Regulators of the Respirasome and
            Neurogenesis
  JOURNAL   iScience 19, 1114-1132 (2019)
   PUBMED   31536960
  REMARK    GeneRIF: This protein seems to play a role in mitochondrial
            respirasome assembly and function and we propose to rename it as
            RCAF1 (Respirasome Complex Assembly Factor 1).
REFERENCE   4  (bases 1 to 1069)
  AUTHORS   Cogliati,S., Lorenzi,I., Rigoni,G., Caicci,F. and Soriano,M.E.
  TITLE     Regulation of Mitochondrial Electron Transport Chain Assembly
  JOURNAL   J Mol Biol 430 (24), 4849-4873 (2018)
   PUBMED   30292820
  REMARK    Review article
REFERENCE   5  (bases 1 to 1069)
  AUTHORS   Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M.,
            Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D.,
            Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
  TITLE     Genetic variants in nuclear-encoded mitochondrial genes influence
            AIDS progression
  JOURNAL   PLoS One 5 (9), e12862 (2010)
   PUBMED   20877624
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1069)
  AUTHORS   Hagiwara,M., Kobayashi,K., Tadokoro,T. and Yamamoto,Y.
  TITLE     Rab5 affinity chromatography without nonhydrolyzable GTP analogues
  JOURNAL   Z Naturforsch C J Biosci 64 (3-4), 303-306 (2009)
   PUBMED   19526728
REFERENCE   7  (bases 1 to 1069)
  AUTHORS   Zha,J., Zhou,Q., Xu,L.G., Chen,D., Li,L., Zhai,Z. and Shu,H.B.
  TITLE     RIP5 is a RIP-homologous inducer of cell death
  JOURNAL   Biochem Biophys Res Commun 319 (2), 298-303 (2004)
   PUBMED   15178406
REFERENCE   8  (bases 1 to 1069)
  AUTHORS   Vitale,G., Alexandrov,K., Ullrich,O., Horiuchi,H., Giner,A.,
            Dobson,C., Baykova,O., Gournier,H., Stenmark,H. and Zerial,M.
  TITLE     The GDP/GTP cycle of Rab5 in the regulation of endocytotic membrane
            traffic
  JOURNAL   Cold Spring Harb Symp Quant Biol 60, 211-220 (1995)
   PUBMED   8824393
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            BI223439.1, BG395753.1 and AF112213.1.
            
            On Nov 22, 2018 this sequence version replaced NM_018840.4.
            
            Transcript Variant: This variant (1) encodes the shortest isoform
            (a).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF112213.1, SRR1163658.529318.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000344795.8/ ENSP00000340164.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 BI223439.1         46-47
            3-119               BG395753.1         19-135
            120-1069            AF112213.1         129-1078
FEATURES             Location/Qualifiers
     source          1..1069
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20q11.23"
     gene            1..1069
                     /gene="RAB5IF"
                     /gene_synonym="C20orf24; CFSMR2; OPTI; PNAS-11; RCAF1;
                     RIP5"
                     /note="RAB5 interacting factor"
                     /db_xref="GeneID:55969"
                     /db_xref="HGNC:HGNC:15870"
                     /db_xref="MIM:619960"
     exon            1..287
                     /gene="RAB5IF"
                     /gene_synonym="C20orf24; CFSMR2; OPTI; PNAS-11; RCAF1;
                     RIP5"
                     /inference="alignment:Splign:2.1.0"
     CDS             174..563
                     /gene="RAB5IF"
                     /gene_synonym="C20orf24; CFSMR2; OPTI; PNAS-11; RCAF1;
                     RIP5"
                     /note="isoform a is encoded by transcript variant 1;
                     rab5-interacting protein; uncharacterized protein
                     C20orf24; respirasome complex assembly factor 1; obligate
                     partner of TMCO1 insertase; GEL complex subunit OPTI"
                     /codon_start=1
                     /product="GEL complex subunit OPTI isoform a"
                     /protein_id="NP_061328.1"
                     /db_xref="CCDS:CCDS13280.1"
                     /db_xref="GeneID:55969"
                     /db_xref="HGNC:HGNC:15870"
                     /db_xref="MIM:619960"
                     /translation="MSGGRRKEEPPQPQLANGALKVSVWSKVLRSDAAWEDKDEFLDV
                     IYWFRQIIAVVLGVIWGVLPLRGFLGIAGFCLINAGVLYLYFSNYLQIDEEEYGGTWE
                     LTKEGFMTSFALFMVIWIIFYTAIHYD"
     exon            288..391
                     /gene="RAB5IF"
                     /gene_synonym="C20orf24; CFSMR2; OPTI; PNAS-11; RCAF1;
                     RIP5"
                     /inference="alignment:Splign:2.1.0"
     exon            392..521
                     /gene="RAB5IF"
                     /gene_synonym="C20orf24; CFSMR2; OPTI; PNAS-11; RCAF1;
                     RIP5"
                     /inference="alignment:Splign:2.1.0"
     exon            522..1069
                     /gene="RAB5IF"
                     /gene_synonym="C20orf24; CFSMR2; OPTI; PNAS-11; RCAF1;
                     RIP5"
                     /inference="alignment:Splign:2.1.0"
     regulatory      884..889
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB5IF"
                     /gene_synonym="C20orf24; CFSMR2; OPTI; PNAS-11; RCAF1;
                     RIP5"
                     /note="hexamer: ATTAAA"
     polyA_site      907
                     /gene="RAB5IF"
                     /gene_synonym="C20orf24; CFSMR2; OPTI; PNAS-11; RCAF1;
                     RIP5"
                     /note="major polyA site"
     regulatory      1045..1050
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB5IF"
                     /gene_synonym="C20orf24; CFSMR2; OPTI; PNAS-11; RCAF1;
                     RIP5"
                     /note="hexamer: AATAAA"
     polyA_site      1069
                     /gene="RAB5IF"
                     /gene_synonym="C20orf24; CFSMR2; OPTI; PNAS-11; RCAF1;
                     RIP5"
                     /note="major polyA site"
ORIGIN      
        1 gtagagccgg cggaaccggg tagcttggcc aggttgtgag gaaccgcagc gcgccgcagg
       61 accgggccgc tgagcctgca gccgccccgc gccgtgacct gcgaccctag accccgactc
      121 cctttggctc agcccgcgcg ccccaggccc ggcccgggcg gcgcgacggg aggatgagcg
      181 gcgggcggcg gaaggaggag ccgcctcagc cgcagctggc caacggggcc ctcaaagtct
      241 ccgtctggag taaggtgctg cggagcgacg cggcctggga ggataaggat gaatttttag
      301 atgtgatcta ctggttccga cagatcattg ctgtggtcct gggtgtcatt tggggagttt
      361 tgccattacg agggttcttg ggaatagcag gattctgcct gatcaatgca ggagtcctgt
      421 acctctactt cagcaattac ctacagattg atgaggaaga atatggtggc acgtgggagc
      481 tcacgaagga agggtttatg acctcttttg ccttgttcat ggtcatttgg atcatctttt
      541 acactgccat ccattatgac tgatggtgta cagctcccaa gtgctcccta tccagtccaa
      601 aggaccctct tgattacagc acaggaactt gatcgttggg gaaccccagc cccttggaac
      661 ttggaagacc cgtgtttcct ggaccgcgaa tcagtgtgtt gggcatcagt gttttctgca
      721 agggttgtga cctgaaactt tttaaaaacc acccaccttt ggggaagcat ttctgaattt
      781 atccatcacc aaccatttct tcttggatac catcaagtaa cagctattat ttgccaagtg
      841 gagctgtcat ttaatttgat gcacctctgg attcagatga aacattaaat tgtcttcctc
      901 gattctccat cgggtgtaga gtttttaaac tatcaatggc atttcaagtc ttctgaaaca
      961 gcatggctgt atgtgcgtgg tccatagcac agtacatgca gcatctaata agagtttcca
     1021 ttgtagaatg ttttcacata cttgaataaa tcaaatcttt aattgagaa
//
