LOCUS       NM_001025300            2147 bp    mRNA    linear   PRI 01-JUL-2024
DEFINITION  Homo sapiens RAB12, member RAS oncogene family (RAB12), mRNA.
ACCESSION   NM_001025300 XM_113967
VERSION     NM_001025300.3
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 2147)
  AUTHORS   Raeker,M.O., Perera,N.D., Karoukis,A.J., Chen,L., Feathers,K.L.,
            Ali,R.R., Thompson,D.A. and Fahim,A.T.
  TITLE     Reduced Retinal Pigment Epithelial Autophagy Due to Loss of Rab12
            Prenylation in a Human iPSC-RPE Model of Choroideremia
  JOURNAL   Cells 13 (12), 1068 (2024)
   PUBMED   38920696
  REMARK    GeneRIF: Reduced Retinal Pigment Epithelial Autophagy Due to Loss
            of Rab12 Prenylation in a Human iPSC-RPE Model of Choroideremia.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2147)
  AUTHORS   Wang,X., Bondar,V.V., Davis,O.B., Maloney,M.T., Agam,M., Chin,M.Y.,
            Cheuk-Nga Ho,A., Ghosh,R., Leto,D.E., Joy,D., Calvert,M.E.K.,
            Lewcock,J.W., Di Paolo,G., Thorne,R.G., Sweeney,Z.K. and Henry,A.G.
  TITLE     Rab12 is a regulator of LRRK2 and its activation by damaged
            lysosomes
  JOURNAL   Elife 12, e87255 (2023)
   PUBMED   37874617
  REMARK    GeneRIF: Rab12 is a regulator of LRRK2 and its activation by
            damaged lysosomes.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2147)
  AUTHORS   Ito,G., Tomita,T. and Utsunomiya-Tate,N.
  TITLE     LRRK2-mediated phosphorylation and thermal stability of Rab12 are
            regulated by bound nucleotides
  JOURNAL   Biochem Biophys Res Commun 667, 43-49 (2023)
   PUBMED   37207563
  REMARK    GeneRIF: LRRK2-mediated phosphorylation and thermal stability of
            Rab12 are regulated by bound nucleotides.
REFERENCE   4  (bases 1 to 2147)
  AUTHORS   Wang,J., Lau,P.K., Li,C.W. and Guo,Y.
  TITLE     The clathrin adaptor complex-1 and Rab12 regulate post-golgi
            trafficking of WT epidermal growth factor receptor (EGFR)
  JOURNAL   J Biol Chem 299 (3), 102979 (2023)
   PUBMED   36739948
  REMARK    GeneRIF: The clathrin adaptor complex-1 and Rab12 regulate
            post-golgi trafficking of WT epidermal growth factor receptor
            (EGFR).
REFERENCE   5  (bases 1 to 2147)
  AUTHORS   Xu,J., Kozlov,G., McPherson,P.S. and Gehring,K.
  TITLE     A PH-like domain of the Rab12 guanine nucleotide exchange factor
            DENND3 binds actin and is required for autophagy
  JOURNAL   J Biol Chem 293 (12), 4566-4574 (2018)
   PUBMED   29352104
  REMARK    GeneRIF: show that DENND3 binds actin through a surface of
            positively charged residues on the PHenn domain of Ran12
REFERENCE   6  (bases 1 to 2147)
  AUTHORS   Xu,J. and McPherson,P.S.
  TITLE     Regulation of DENND3, the exchange factor for the small GTPase
            Rab12 through an intramolecular interaction
  JOURNAL   J Biol Chem 292 (17), 7274-7282 (2017)
   PUBMED   28249939
  REMARK    GeneRIF: DENND3 is the exchange factor for the small GTPase Rab12
            regulated through an intramolecular interaction
REFERENCE   7  (bases 1 to 2147)
  AUTHORS   Steger,M., Tonelli,F., Ito,G., Davies,P., Trost,M., Vetter,M.,
            Wachter,S., Lorentzen,E., Duddy,G., Wilson,S., Baptista,M.A.,
            Fiske,B.K., Fell,M.J., Morrow,J.A., Reith,A.D., Alessi,D.R. and
            Mann,M.
  TITLE     Phosphoproteomics reveals that Parkinson's disease kinase LRRK2
            regulates a subset of Rab GTPases
  JOURNAL   Elife 5, e12813 (2016)
   PUBMED   26824392
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 2147)
  AUTHORS   Xu,J., Fotouhi,M. and McPherson,P.S.
  TITLE     Phosphorylation of the exchange factor DENND3 by ULK in response to
            starvation activates Rab12 and induces autophagy
  JOURNAL   EMBO Rep 16 (6), 709-718 (2015)
   PUBMED   25925668
  REMARK    GeneRIF: a novel signaling pathway identified whereby
            starvation-induced activation of ULK leads to phosphorylation of
            endogenous DENND3, with subsequent activation of Rab12 and
            initiation of membrane trafficking events required for autophagy
REFERENCE   9  (bases 1 to 2147)
  AUTHORS   Rydell,G.E., Renard,H.F., Garcia-Castillo,M.D., Dingli,F., Loew,D.,
            Lamaze,C., Romer,W. and Johannes,L.
  TITLE     Rab12 localizes to Shiga toxin-induced plasma membrane
            invaginations and controls toxin transport
  JOURNAL   Traffic 15 (7), 772-787 (2014)
   PUBMED   24703428
  REMARK    GeneRIF: findings demonstrate the functional importance of Rab12
            for retrograde toxin trafficking
REFERENCE   10 (bases 1 to 2147)
  AUTHORS   Yoshimura,S., Gerondopoulos,A., Linford,A., Rigden,D.J. and
            Barr,F.A.
  TITLE     Family-wide characterization of the DENN domain Rab GDP-GTP
            exchange factors
  JOURNAL   J Cell Biol 191 (2), 367-381 (2010)
   PUBMED   20937701
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AP001793.5.
            
            On Nov 9, 2020 this sequence version replaced NM_001025300.2.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC050338.1, SRR12921934.241200.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000649141.2/ ENSP00000497886.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-517               AP001793.5         150269-150785
            518-578             AP001793.5         165770-165830
            579-717             AP001793.5         174021-174159
            718-807             AP001793.5         176365-176454
            808-912             AP001793.5         177085-177189
            913-2147            AP001793.5         178981-180215
FEATURES             Location/Qualifiers
     source          1..2147
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18p11.22"
     gene            1..2147
                     /gene="RAB12"
                     /note="RAB12, member RAS oncogene family"
                     /db_xref="GeneID:201475"
                     /db_xref="HGNC:HGNC:31332"
                     /db_xref="MIM:616448"
     exon            1..517
                     /gene="RAB12"
                     /inference="alignment:Splign:2.1.0"
     CDS             4..1026
                     /gene="RAB12"
                     /note="putative Ras-related protein Rab-12"
                     /codon_start=1
                     /product="ras-related protein Rab-12"
                     /protein_id="NP_001020471.3"
                     /db_xref="CCDS:CCDS42410.2"
                     /db_xref="GeneID:201475"
                     /db_xref="HGNC:HGNC:31332"
                     /db_xref="MIM:616448"
                     /translation="MLLPLLRSSCFPSSSPGGGGGSGGGGGGGDPGAESRPAAQLQRG
                     AHGPPGPLQRAEAEPGADPPRAAEAEGAPGPGARSRGAGGGGRRAEREPHACMDPGAA
                     LQRRAGGGGGLGAGSPALSGGQGRRRKQPPRPADFKLQVIIIGSRGVGKTSLMERFTD
                     DTFCEACKSTVGVDFKIKTVELRGKKIRLQIWDTAGQERFNSITSAYYRSAKGIILVY
                     DITKKETFDDLPKWMKMIDKYASEDAELLLVGNKLDCETDREITRQQGEKFAQQITGM
                     RFCEASAKDNFNVDEIFLKLVDDILKKMPLDILRNELSNSILSLQPEPEIPPELPPPR
                     PHVRCC"
     exon            518..578
                     /gene="RAB12"
                     /inference="alignment:Splign:2.1.0"
     exon            579..717
                     /gene="RAB12"
                     /inference="alignment:Splign:2.1.0"
     exon            718..807
                     /gene="RAB12"
                     /inference="alignment:Splign:2.1.0"
     exon            808..912
                     /gene="RAB12"
                     /inference="alignment:Splign:2.1.0"
     exon            913..2147
                     /gene="RAB12"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2122..2127
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB12"
                     /note="hexamer: AATAAA"
     polyA_site      2147
                     /gene="RAB12"
                     /note="major polyA site"
ORIGIN      
        1 gggatgctgc tgccgctact gcggagtagc tgcttccctt cctcctctcc cggcggcggc
       61 ggcggcagcg gcggaggagg aggaggaggg gacccgggcg cagagagccg gccggcggcg
      121 cagttgcagc gcggagccca cgggccgccg gggccgctcc agcgggcgga agccgagccc
      181 ggggccgacc ccccgcgcgc ggcggaggcc gagggggcgc cggggcccgg ggcgcgcagc
      241 cggggggcgg gcggcggcgg gcggcgggcc gagcgggagc cgcatgcgtg tatggatccg
      301 ggcgccgcgc tgcagaggcg ggccgggggc ggcggcggtc tgggcgcggg ctccccggcg
      361 ctgtcgggcg gccagggccg ccggaggaag cagcccccca ggccggccga cttcaagttg
      421 caggtcatca ttatcggctc ccgcggcgtg ggcaagacca gcctgatgga gcgcttcacc
      481 gacgacacct tctgcgaggc ctgcaagtcc accgtgggtg ttgacttcaa aatcaaaact
      541 gtagagctaa gaggaaagaa aattagatta cagatctggg acacagcagg tcaggagaga
      601 ttcaacagca ttacctcagc ttattacaga agtgccaagg ggatcatatt agtatatgat
      661 atcactaaga aggagacatt tgatgatttg ccgaaatgga tgaagatgat tgataagtat
      721 gcttcagaag atgcagagct tctcttagtt ggaaataagt tggactgtga aacggacaga
      781 gaaatcacca ggcagcaggg ggaaaagttt gcacagcaga tcactgggat gcggttctgt
      841 gaagcaagtg ccaaggataa cttcaatgtg gacgagatat ttttgaaact tgtcgatgac
      901 attctgaaaa agatgcctct ggatatttta aggaatgagt tgtccaatag tatcctgtcg
      961 ttacaaccag agcctgagat accgccagaa ctgcctccac caagaccaca tgtccgatgc
     1021 tgttgatttc ctactttgga gacaaagtgg aaatgattcc tggaaagggg aaaaaacgtt
     1081 ctattctgca ctacaatcat tttgacaatt tcctttcgca ctttgtaatc caagtcagag
     1141 ctatacacta acttgtaaat atgcatatat gcaatcctgg gtaagttttg gttataagtt
     1201 acctatttcc ctccaaatta ttatatttca ttcattaccc cagtgtctag tgtacataca
     1261 ctgggaaacc tagtacttct aatatgaaga atgggagaaa tgaaaggtat aatgtttctt
     1321 gaaataaata atataattgt ccttattaat tatattatga ggacagaaga tattctgata
     1381 agagagaacg tggtgctttg cttaccgttt taaagaaaat ttgtaaaact aaagactttt
     1441 tgaaaaaaag ctatcttaag tgctttttct ttatttacaa gacatttccc ccagtggtag
     1501 catctgaagt attggagtgt ttctgccacg aagcaaagct ccattcatgg ccgtcatgga
     1561 aggttattta ttaatgttac ataatggtag aatattacta gttagagggt tggatttgac
     1621 ttggtcctaa ggccacagaa tctctctcat ggcttcctaa gggatgtacc tttatgcttt
     1681 taagaactac aaagattcaa taaagaaaga aatgtttttg aaactataga aaaagatttt
     1741 aaaacacgct gctgtcctaa acaaatcctg tttaaaggaa ttttaaagag atgcatttta
     1801 ctatatcaaa gaacatacgt gtatttgcct aaacactctg tacctttgta atgataaaac
     1861 ttcccccttc tttacggtga agcttattct gattaagcct agactgtgtt cttttttttt
     1921 tttttttttt tttttttttt tttttttttt ttttttggtc tgatgatgaa tttgtgaact
     1981 ctatctttgg tatatctttt attaaactgc actgttttgt ttagtcaagg taattaagta
     2041 attatgtatt tgaataactt ggtgtgtctt gagtgttgtg gtatgaaaag cattgtggtc
     2101 tttctacact aatgaagtgc aaataaaatt ttgtatttat gaatgaa
//
