LOCUS       NM_021168               2718 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens RAB40C, member RAS oncogene family (RAB40C),
            transcript variant 2, mRNA.
ACCESSION   NM_021168
VERSION     NM_021168.5
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 2718)
  AUTHORS   Duan,X., Xu,L., Li,Y., Jia,L., Liu,W., Shao,W., Bayat,V., Shang,W.,
            Wang,L., Liu,J.P. and Tong,C.
  TITLE     Regulation of lipid homeostasis by the TBC protein dTBC1D22 via
            modulation of the small GTPase Rab40 to facilitate lipophagy
  JOURNAL   Cell Rep 36 (9), 109541 (2021)
   PUBMED   34469730
REFERENCE   2  (bases 1 to 2718)
  AUTHORS   Liu,K., Huo,H., Jia,W., Li,M., Xiong,Z., Sun,Y., Wu,J., Li,H.,
            Liu,J., Liu,Y., Jin,T., Li,B., Zuo,Y. and Zhao,Y.
  TITLE     RAB40C gene polymorphisms rs62030917 and rs2269556 are associated
            with an increased risk of lumbar disc herniation development in the
            Chinese Han population
  JOURNAL   J Gene Med 23 (4), e3252 (2021)
   PUBMED   32656896
  REMARK    GeneRIF: RAB40C gene polymorphisms rs62030917 and rs2269556 are
            associated with an increased risk of lumbar disc herniation
            development in the Chinese Han population.
REFERENCE   3  (bases 1 to 2718)
  AUTHORS   Khakpour,G., Noruzinia,M., Izadi,P., Karami,F., Ahmadvand,M.,
            Heshmat,R., Amoli,M.M. and Tavakkoly-Bazzaz,J.
  TITLE     Methylomics of breast cancer: Seeking epimarkers in peripheral
            blood of young subjects
  JOURNAL   Tumour Biol 39 (3), 1010428317695040 (2017)
   PUBMED   28349825
  REMARK    GeneRIF: total of 1799 differentially methylated regions were
            identified including SLC6A3, Rab40C, ZNF584, and FOXD3 whose
            significant methylation differences were confirmed in breast cancer
            patients through quantitative real-time polymerase chain
            reaction.Methylation of those aforementioned genes in white blood
            cells of our young patients may highlight their potential as early
            epimarkers
REFERENCE   4  (bases 1 to 2718)
  AUTHORS   Williams,F.M., Bansal,A.T., van Meurs,J.B., Bell,J.T.,
            Meulenbelt,I., Suri,P., Rivadeneira,F., Sambrook,P.N., Hofman,A.,
            Bierma-Zeinstra,S., Menni,C., Kloppenburg,M., Slagboom,P.E.,
            Hunter,D.J., MacGregor,A.J., Uitterlinden,A.G. and Spector,T.D.
  TITLE     Novel genetic variants associated with lumbar disc degeneration in
            northern Europeans: a meta-analysis of 4600 subjects
  JOURNAL   Ann Rheum Dis 72 (7), 1141-1148 (2013)
   PUBMED   22993228
REFERENCE   5  (bases 1 to 2718)
  AUTHORS   Tan,R., Wang,W., Wang,S., Wang,Z., Sun,L., He,W., Fan,R., Zhou,Y.,
            Xu,X., Hong,W. and Wang,T.
  TITLE     Small GTPase Rab40c associates with lipid droplets and modulates
            the biogenesis of lipid droplets
  JOURNAL   PLoS One 8 (4), e63213 (2013)
   PUBMED   23638186
  REMARK    GeneRIF: Rab40c is a novel Rab protein associated with lipid
            droplets, and is likely involved in modulating the biogenesis of
            lipid droplets.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2718)
  AUTHORS   Lettre,G., Jackson,A.U., Gieger,C., Schumacher,F.R., Berndt,S.I.,
            Sanna,S., Eyheramendy,S., Voight,B.F., Butler,J.L., Guiducci,C.,
            Illig,T., Hackett,R., Heid,I.M., Jacobs,K.B., Lyssenko,V., Uda,M.,
            Boehnke,M., Chanock,S.J., Groop,L.C., Hu,F.B., Isomaa,B., Kraft,P.,
            Peltonen,L., Salomaa,V., Schlessinger,D., Hunter,D.J., Hayes,R.B.,
            Abecasis,G.R., Wichmann,H.E., Mohlke,K.L. and Hirschhorn,J.N.
  CONSRTM   Diabetes Genetics Initiative; FUSION; KORA; Prostate, Lung
            Colorectal and Ovarian Cancer Screening Trial; Nurses' Health
            Study; SardiNIA
  TITLE     Identification of ten loci associated with height highlights new
            biological pathways in human growth
  JOURNAL   Nat Genet 40 (5), 584-591 (2008)
   PUBMED   18391950
REFERENCE   7  (bases 1 to 2718)
  AUTHORS   Martin,J., Han,C., Gordon,L.A., Terry,A., Prabhakar,S., She,X.,
            Xie,G., Hellsten,U., Chan,Y.M., Altherr,M., Couronne,O., Aerts,A.,
            Bajorek,E., Black,S., Blumer,H., Branscomb,E., Brown,N.C.,
            Bruno,W.J., Buckingham,J.M., Callen,D.F., Campbell,C.S.,
            Campbell,M.L., Campbell,E.W., Caoile,C., Challacombe,J.F.,
            Chasteen,L.A., Chertkov,O., Chi,H.C., Christensen,M., Clark,L.M.,
            Cohn,J.D., Denys,M., Detter,J.C., Dickson,M.,
            Dimitrijevic-Bussod,M., Escobar,J., Fawcett,J.J., Flowers,D.,
            Fotopulos,D., Glavina,T., Gomez,M., Gonzales,E., Goodstein,D.,
            Goodwin,L.A., Grady,D.L., Grigoriev,I., Groza,M., Hammon,N.,
            Hawkins,T., Haydu,L., Hildebrand,C.E., Huang,W., Israni,S.,
            Jett,J., Jewett,P.B., Kadner,K., Kimball,H., Kobayashi,A.,
            Krawczyk,M.C., Leyba,T., Longmire,J.L., Lopez,F., Lou,Y., Lowry,S.,
            Ludeman,T., Manohar,C.F., Mark,G.A., McMurray,K.L., Meincke,L.J.,
            Morgan,J., Moyzis,R.K., Mundt,M.O., Munk,A.C., Nandkeshwar,R.D.,
            Pitluck,S., Pollard,M., Predki,P., Parson-Quintana,B., Ramirez,L.,
            Rash,S., Retterer,J., Ricke,D.O., Robinson,D.L., Rodriguez,A.,
            Salamov,A., Saunders,E.H., Scott,D., Shough,T., Stallings,R.L.,
            Stalvey,M., Sutherland,R.D., Tapia,R., Tesmer,J.G., Thayer,N.,
            Thompson,L.S., Tice,H., Torney,D.C., Tran-Gyamfi,M., Tsai,M.,
            Ulanovsky,L.E., Ustaszewska,A., Vo,N., White,P.S., Williams,A.L.,
            Wills,P.L., Wu,J.R., Wu,K., Yang,J., Dejong,P., Bruce,D.,
            Doggett,N.A., Deaven,L., Schmutz,J., Grimwood,J., Richardson,P.,
            Rokhsar,D.S., Eichler,E.E., Gilna,P., Lucas,S.M., Myers,R.M.,
            Rubin,E.M. and Pennacchio,L.A.
  TITLE     The sequence and analysis of duplication-rich human chromosome 16
  JOURNAL   Nature 432 (7020), 988-994 (2004)
   PUBMED   15616553
REFERENCE   8  (bases 1 to 2718)
  AUTHORS   Kile,B.T., Schulman,B.A., Alexander,W.S., Nicola,N.A., Martin,H.M.
            and Hilton,D.J.
  TITLE     The SOCS box: a tale of destruction and degradation
  JOURNAL   Trends Biochem Sci 27 (5), 235-241 (2002)
   PUBMED   12076535
  REMARK    Review article
REFERENCE   9  (bases 1 to 2718)
  AUTHORS   Pereira-Leal,J.B. and Seabra,M.C.
  TITLE     Evolution of the Rab family of small GTP-binding proteins
  JOURNAL   J Mol Biol 313 (4), 889-901 (2001)
   PUBMED   11697911
REFERENCE   10 (bases 1 to 2718)
  AUTHORS   Daniels,R.J., Peden,J.F., Lloyd,C., Horsley,S.W., Clark,K.,
            Tufarelli,C., Kearney,L., Buckle,V.J., Doggett,N.A., Flint,J. and
            Higgs,D.R.
  TITLE     Sequence, structure and pathology of the fully annotated terminal 2
            Mb of the short arm of human chromosome 16
  JOURNAL   Hum Mol Genet 10 (4), 339-352 (2001)
   PUBMED   11157797
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Z98883.5, BM545442.1, BC028696.1 and BM677091.1.
            
            On Nov 23, 2018 this sequence version replaced NM_021168.4.
            
            Transcript Variant: This variant (2) differs in the 5' UTR,
            compared to variant 1. Variants 1-4 all encode the same isoform
            (a), which is longer than isoform b.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC028696.1, SRR3476690.995042.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000248139.8/ ENSP00000248139.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-107               Z98883.5           22434-22540
            108-417             BM545442.1         75-384
            418-2570            BC028696.1         313-2465
            2571-2718           BM677091.1         22-169              c
FEATURES             Location/Qualifiers
     source          1..2718
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p13.3"
     gene            1..2718
                     /gene="RAB40C"
                     /gene_synonym="RARL; RASL8C"
                     /note="RAB40C, member RAS oncogene family"
                     /db_xref="GeneID:57799"
                     /db_xref="HGNC:HGNC:18285"
                     /db_xref="MIM:619551"
     exon            1..368
                     /gene="RAB40C"
                     /gene_synonym="RARL; RASL8C"
                     /inference="alignment:Splign:2.1.0"
     CDS             227..1072
                     /gene="RAB40C"
                     /gene_synonym="RARL; RASL8C"
                     /note="isoform a is encoded by transcript variant 2;
                     RAS-like, family 8, member C; RAR (RAS like GTPASE) like;
                     RAR like; ras-related protein Rab-40C; RAS-like GTPase;
                     rar-like protein; SOCS box-containing protein RAR3;
                     ras-like protein family member 8C"
                     /codon_start=1
                     /product="ras-related protein Rab-40C isoform a"
                     /protein_id="NP_066991.3"
                     /db_xref="CCDS:CCDS10413.1"
                     /db_xref="GeneID:57799"
                     /db_xref="HGNC:HGNC:18285"
                     /db_xref="MIM:619551"
                     /translation="MGSQGSPVKSYDYLLKFLLVGDSDVGKGEILESLQDGAAESPYA
                     YSNGIDYKTTTILLDGRRVKLELWDTSGQGRFCTIFRSYSRGAQGILLVYDITNRWSF
                     DGIDRWIKEIDEHAPGVPRILVGNRLHLAFKRQVPTEQARAYAEKNCMTFFEVSPLCN
                     FNVIESFTELSRIVLMRHGMEKIWRPNRVFSLQDLCCRAIVSCTPVHLIDKLPLPVTI
                     KSHLKSFSMANGMNAVMMHGRSYSLASGAGGGGSKGNSLKRSKSIRPPQSPPQNCSRS
                     NCKIS"
     exon            369..429
                     /gene="RAB40C"
                     /gene_synonym="RARL; RASL8C"
                     /inference="alignment:Splign:2.1.0"
     exon            430..490
                     /gene="RAB40C"
                     /gene_synonym="RARL; RASL8C"
                     /inference="alignment:Splign:2.1.0"
     exon            491..568
                     /gene="RAB40C"
                     /gene_synonym="RARL; RASL8C"
                     /inference="alignment:Splign:2.1.0"
     exon            569..791
                     /gene="RAB40C"
                     /gene_synonym="RARL; RASL8C"
                     /inference="alignment:Splign:2.1.0"
     exon            792..2718
                     /gene="RAB40C"
                     /gene_synonym="RARL; RASL8C"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2695..2700
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB40C"
                     /gene_synonym="RARL; RASL8C"
                     /note="hexamer: AGTAAA"
     polyA_site      2718
                     /gene="RAB40C"
                     /gene_synonym="RARL; RASL8C"
                     /note="major polyA site"
ORIGIN      
        1 gcggcgcggc ggccctggtg gtgcgggaag cggcggggcg gcggcgaggc tgaggtgcgc
       61 ccgggcgcgg gcggggcggg gccggcgctg ggcttcgggc gcgcccactc ggccgccgtg
      121 gggcggacgc aacgggcgca ggtgcggggc gcgggctctc tcacgccgcg gcctcacccg
      181 gcggtgcttc ggcaggcggc cggcgcgggg cgcaggcggc gcggccatgg gctcgcaggg
      241 cagtccggtg aagagctacg actacctgct caagttcctg ctggtgggcg acagcgacgt
      301 gggcaagggc gagatcctgg agagcctgca ggacggcgcg gcagagtccc cgtacgccta
      361 cagtaacggg atcgactaca agaccaccac catcctgctg gacggccggc gcgtgaagct
      421 ggagctctgg gacacgtcgg gccagggccg gttctgcacc atcttcaggt cctactccag
      481 gggcgctcag gggatcctct tggtgtatga catcaccaac cgctggtcct ttgacggcat
      541 cgaccgctgg atcaaggaga tcgatgagca tgcacccgga gtcccccgga tcttggttgg
      601 aaaccggctg cacctggcct tcaagcggca ggtcccgacg gagcaggccc gcgcgtacgc
      661 agagaagaac tgcatgacct tctttgaggt cagccccctg tgcaacttca acgtcatcga
      721 gtccttcacg gagctatccc gcatcgtgct catgcggcac ggcatggaga agatctggag
      781 gcccaaccga gtgttcagcc tgcaggacct ctgctgccgg gccatcgtct cctgcacccc
      841 cgtgcacctc atcgacaagc ttccactgcc cgtcaccatc aagagccacc tcaagtcctt
      901 ctcgatggcc aacggcatga acgcggtcat gatgcacggc cgttcctact ccctggccag
      961 cggggccggg ggcggcggca gcaagggcaa cagcctcaag aggtccaagt ccatccgtcc
     1021 accccagagc cccccccaga actgctcgcg gagtaactgc aagatctcct agcggggatg
     1081 ggcggggccg cctgtgcaga tgccaggagg gctcgagctg gacactcctg gctggacgcc
     1141 aggccagtgc cgcctacgtg gagactgtcc acacagctgc ctcagaagcg ccgggctttc
     1201 ctcacacctg agccgggtgc gaggaggagc atgcacggac caagcgcggc aggcgggagg
     1261 agggggcgcg gctgggctgc tggtgcttcc gggaatcttg gtcggaaaca agccgggcct
     1321 ccccagctgc ctgggcttga ccggcgggga gcctggttgg cctttcttat ttatatagag
     1381 aacacttcac ttttttgtac atttttaagg ggccttcagg gaagcctggg tgtggcccgg
     1441 tggtggtgca ctggtgactt catggccacg ccagctgcgg ggacgcactt gggactcctc
     1501 gagaggggac tcgcggccgc gatggcaagg catcctgtga attcatgcgc tgcgagtggc
     1561 ggggctgccc agaggccggg ggagcagaca gggccggtgc tccctctgga agcttgggtg
     1621 accggggccc tggctcccac gggatggagg gtgtggtcct gtggtcagag cccaagcagc
     1681 actcaggaga ggggagaaag gaggtgcacc tggcagccca catttttgtt gctccccaaa
     1741 tccctcccca cgtggggatg agaaccttcc tgctgtgatg tgacaccttc ggggacattg
     1801 accactcaaa actcagatca tctcgcccac cctggagagt gcagagctat ctgtagactt
     1861 aggaatactt gatgggcagc ggtgcagacc ccgggcacct gcgtgcagcc tcctgttctc
     1921 ggcagcttct gtcgctggcc ctggggtccc cacagctgca gctctcctgt gaggttgcac
     1981 ggcatcagaa ccatcctgac cttcttaggg acgtgcctgg aaccacctcg tccacgtcca
     2041 cgtccacctg ggggcctcgg gaggctaggc ccctcctcaa aggcccacca gcccggcgct
     2101 catgctgagc cccaggcacg cagggccggc cacctctctc ctgaagccat tggccgctcc
     2161 tccacccagt gcttctgccc atgcctgccc cagcagcccc tctgcacggt caccatcgcc
     2221 tgggcctgcc cacagcactg gtgctcacct ctacctcctg tcctcaggcc gtgcggcacg
     2281 acatggccag cacgcagaag gagccctccc gggacccagg accccccgtg gtggactccg
     2341 cggcacatgc ttcccaaggt ggtcccacgg agggtgttac tgggcaccag tggactcgcc
     2401 ccatggcccg ttcctgggag atgagggccg tggcctgcat gaactaccag atgagtaagg
     2461 gaaccccagg caggcggccc tgccacagcc cccaaagaca ctggcctcct gctccagctt
     2521 ccctgtcctg gccccacctg tcctgttgct gccagcaggg cccttgtttg ggattatgaa
     2581 caaacctcac agactttgag gacctggatg gtcctgcatt cacggcatca acactacccg
     2641 cgctgctgtt agacactccg ccattcctgg ttctctccga accgttcttt gtacagtaaa
     2701 tgtaattcag ctgtggtc
//
