LOCUS       NM_183235               3447 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens RAB27A, member RAS oncogene family (RAB27A),
            transcript variant 3, mRNA.
ACCESSION   NM_183235
VERSION     NM_183235.3
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 3447)
  AUTHORS   Tang,L., Yuan,L., Yan,J., Ge,J., Lian,Z. and Li,Z.
  TITLE     circ_0029463 promotes osteoclast differentiation by mediating
            miR-134-5p/Rab27a axis
  JOURNAL   J Orthop Surg Res 19 (1), 128 (2024)
   PUBMED   38326867
  REMARK    GeneRIF: circ_0029463 promotes osteoclast differentiation by
            mediating miR-134-5p/Rab27a axis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3447)
  AUTHORS   Bastos,N., Castaldo,S.A., Adem,B., Machado,J.C., Melo,C.A. and
            Melo,S.A.
  TITLE     SMC3 epigenetic silencing regulates Rab27a expression and drives
            pancreatic cancer progression
  JOURNAL   J Transl Med 21 (1), 578 (2023)
   PUBMED   37641131
  REMARK    GeneRIF: SMC3 epigenetic silencing regulates Rab27a expression and
            drives pancreatic cancer progression.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3447)
  AUTHORS   Huang,J., Yang,J.G., Ren,J.G., Xia,H.F., Chen,G.H., Fu,Q.Y.,
            Zhang,L.Z., Liu,H.M., Wang,K.M., Xie,Q.H. and Chen,G.
  TITLE     Overexpression of RAB27A in Oral Squamous Cell Carcinoma Promotes
            Tumor Migration and Invasion via Modulation of EGFR Membrane
            Stability
  JOURNAL   Int J Mol Sci 24 (17), 13103 (2023)
   PUBMED   37685910
  REMARK    GeneRIF: Overexpression of RAB27A in Oral Squamous Cell Carcinoma
            Promotes Tumor Migration and Invasion via Modulation of EGFR
            Membrane Stability.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3447)
  AUTHORS   Brauer,N., Maruta,Y., Lisci,M., Strege,K., Oschlies,I.,
            Nakamura,H., Bohm,S., Lehmberg,K., Brandhoff,L., Ehl,S.,
            Parvaneh,N., Klapper,W., Fukuda,M., Griffiths,G.M., Hennies,H.C.,
            Niehues,T. and Ammann,S.
  TITLE     Immunodeficiency with susceptibility to lymphoma with complex
            genotype affecting energy metabolism (FBP1, ACAD9) and vesicle
            trafficking (RAB27A)
  JOURNAL   Front Immunol 14, 1151166 (2023)
   PUBMED   37388727
  REMARK    GeneRIF: Immunodeficiency with susceptibility to lymphoma with
            complex genotype affecting energy metabolism (FBP1, ACAD9) and
            vesicle trafficking (RAB27A).
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3447)
  AUTHORS   Tajik,S., Badalzadeh,M., Houshmand,M., Alizadeh,Z., Moradi,L.,
            Hamidieh,A.A., Shafiei,A., Heris,J.A., Bahram,S., Molitor,A.,
            Carapito,R., Moin,M., Fazlollahi,M.R. and Pourpak,Z.
  TITLE     Molecular findings and clinical manifestations of 18 Iranian
            children with Griscelli syndrome type 2: Two novel homozygote
            mutations in RAB27A gene in a patient
  JOURNAL   Scand J Immunol 97 (5), e13264 (2023)
   PUBMED   37368332
  REMARK    GeneRIF: Molecular findings and clinical manifestations of 18
            Iranian children with Griscelli syndrome type 2: Two novel
            homozygote mutations in RAB27A gene in a patient.
REFERENCE   6  (bases 1 to 3447)
  AUTHORS   Menasche,G., Pastural,E., Feldmann,J., Certain,S., Ersoy,F.,
            Dupuis,S., Wulffraat,N., Bianchi,D., Fischer,A., Le Deist,F. and de
            Saint Basile,G.
  TITLE     Mutations in RAB27A cause Griscelli syndrome associated with
            haemophagocytic syndrome
  JOURNAL   Nat Genet 25 (2), 173-176 (2000)
   PUBMED   10835631
REFERENCE   7  (bases 1 to 3447)
  AUTHORS   Tolmachova,T., Ramalho,J.S., Anant,J.S., Schultz,R.A., Huxley,C.M.
            and Seabra,M.C.
  TITLE     Cloning, mapping and characterization of the human RAB27A gene
  JOURNAL   Gene 239 (1), 109-116 (1999)
   PUBMED   10571040
REFERENCE   8  (bases 1 to 3447)
  AUTHORS   Chen,D., Guo,J., Miki,T., Tachibana,M. and Gahl,W.A.
  TITLE     Molecular cloning and characterization of rab27a and rab27b, novel
            human rab proteins shared by melanocytes and platelets
  JOURNAL   Biochem Mol Med 60 (1), 27-37 (1997)
   PUBMED   9066979
REFERENCE   9  (bases 1 to 3447)
  AUTHORS   Seabra,M.C., Ho,Y.K. and Anant,J.S.
  TITLE     Deficient geranylgeranylation of Ram/Rab27 in choroideremia
  JOURNAL   J Biol Chem 270 (41), 24420-24427 (1995)
   PUBMED   7592656
REFERENCE   10 (bases 1 to 3447)
  AUTHORS   Nagata,K., Itoh,H., Katada,T., Takenaka,K., Ui,M., Kaziro,Y. and
            Nozawa,Y.
  TITLE     Purification, identification, and characterization of two
            GTP-binding proteins with molecular weights of 25,000 and 21,000 in
            human platelet cytosol. One is the rap1/smg21/Krev-1 protein and
            the other is a novel GTP-binding protein
  JOURNAL   J Biol Chem 264 (29), 17000-17005 (1989)
   PUBMED   2507536
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA553342.1, AK312836.1,
            AC011912.7 and CA437806.1.
            
            On Nov 23, 2018 this sequence version replaced NM_183235.2.
            
            Summary: The protein encoded by this gene belongs to the small
            GTPase superfamily, Rab family. The protein is membrane-bound and
            may be involved in protein transport and small GTPase mediated
            signal transduction. Mutations in this gene are associated with
            Griscelli syndrome type 2. Alternative splicing occurs at this
            locus and four transcript variants encoding the same protein have
            been identified. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (3) differs in the 5' UTR compared
            to variant 1. Variants 1, 2, 3 and 4 encode the same isoform.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR14038192.3246169.1,
                                           SRR14038193.3270153.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2153427 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000336787.6/ ENSP00000337761.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-98                DA553342.1         35-132
            99-906              AK312836.1         99-906
            907-3000            AC011912.7         128261-130354       c
            3001-3447           CA437806.1         16-462              c
FEATURES             Location/Qualifiers
     source          1..3447
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.3"
     gene            1..3447
                     /gene="RAB27A"
                     /gene_synonym="GS2; HsT18676; RAB27; RAM"
                     /note="RAB27A, member RAS oncogene family"
                     /db_xref="GeneID:5873"
                     /db_xref="HGNC:HGNC:9766"
                     /db_xref="MIM:603868"
     exon            1..98
                     /gene="RAB27A"
                     /gene_synonym="GS2; HsT18676; RAB27; RAM"
                     /inference="alignment:Splign:2.1.0"
     exon            99..218
                     /gene="RAB27A"
                     /gene_synonym="GS2; HsT18676; RAB27; RAM"
                     /inference="alignment:Splign:2.1.0"
     exon            219..393
                     /gene="RAB27A"
                     /gene_synonym="GS2; HsT18676; RAB27; RAM"
                     /inference="alignment:Splign:2.1.0"
     CDS             241..906
                     /gene="RAB27A"
                     /gene_synonym="GS2; HsT18676; RAB27; RAM"
                     /EC_number="3.6.5.2"
                     /note="GTP-binding protein Ram; rab-27; mutant Ras-related
                     protein Rab-27A"
                     /codon_start=1
                     /product="ras-related protein Rab-27A"
                     /protein_id="NP_899058.1"
                     /db_xref="CCDS:CCDS10153.1"
                     /db_xref="GeneID:5873"
                     /db_xref="HGNC:HGNC:9766"
                     /db_xref="MIM:603868"
                     /translation="MSDGDYDYLIKFLALGDSGVGKTSVLYQYTDGKFNSKFITTVGI
                     DFREKRVVYRASGPDGATGRGQRIHLQLWDTAGQERFRSLTTAFFRDAMGFLLLFDLT
                     NEQSFLNVRNWISQLQMHAYCENPDIVLCGNKSDLEDQRVVKEEEAIALAEKYGIPYF
                     ETSAANGTNISQAIEMLLDLIMKRMERCVDKSWIPEGVVRSNGHASTDQLSEEKEKGA
                     CGC"
     exon            394..479
                     /gene="RAB27A"
                     /gene_synonym="GS2; HsT18676; RAB27; RAM"
                     /inference="alignment:Splign:2.1.0"
     exon            480..583
                     /gene="RAB27A"
                     /gene_synonym="GS2; HsT18676; RAB27; RAM"
                     /inference="alignment:Splign:2.1.0"
     exon            584..707
                     /gene="RAB27A"
                     /gene_synonym="GS2; HsT18676; RAB27; RAM"
                     /inference="alignment:Splign:2.1.0"
     exon            708..3447
                     /gene="RAB27A"
                     /gene_synonym="GS2; HsT18676; RAB27; RAM"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3421..3426
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAB27A"
                     /gene_synonym="GS2; HsT18676; RAB27; RAM"
                     /note="hexamer: AATAAA"
     polyA_site      3447
                     /gene="RAB27A"
                     /gene_synonym="GS2; HsT18676; RAB27; RAM"
                     /note="major polyA site"
ORIGIN      
        1 ggaaaatacc cgccaacgac ccaaaaaagg ccggcggcgg gtggacgcgg cgcgcgagga
       61 cccgagccag gcggggacag gacggcgggg cgagccagac aaaaagtaac cttcctgaag
      121 aggacatgtg attggaagtt gtcaattgtt gaagcattgg taactccagt ctctaacgtt
      181 ttagaaaatc ataacaagcg gttctctacc ctgtaaaggt gaactactga gttcttcatt
      241 atgtctgatg gagattatga ttacctcatc aagtttttag ctttgggaga ctctggtgta
      301 gggaagacca gtgtacttta ccaatataca gatggtaaat ttaactccaa atttatcaca
      361 acagtgggca ttgatttcag ggaaaaaaga gtggtgtaca gagccagtgg gccggatgga
      421 gccactggca gaggccagag aatccacctg cagttatggg acacagcagg gcaggagagg
      481 tttcgtagct taacgacagc gttcttcaga gatgctatgg gttttcttct actttttgat
      541 ctgacaaatg agcaaagttt cctcaatgtc agaaactgga taagccagct acagatgcat
      601 gcatattgtg aaaacccaga tatagtgctg tgtggaaaca agagtgatct ggaggaccag
      661 agagtagtga aagaggagga agccatagca ctcgcagaga aatatggaat cccctacttt
      721 gaaactagtg ctgccaatgg gacaaacata agccaagcaa ttgagatgct tctggacctg
      781 ataatgaagc gaatggaacg gtgtgtggac aagtcctgga ttcctgaagg agtggtgcga
      841 tcaaatggtc atgcctctac ggatcagtta agtgaagaaa aggagaaagg ggcatgtggc
      901 tgttgagaag tcaagtaagc gacatagtag ttcaggtggc ccatgcctgg gatcttctct
      961 atgattgata catggcacag tgagagatta atgggcattg tgtacaaatt gcttctcacc
     1021 atccccatta gacctacgaa taaagcatcc ggttctaaaa ttaatttgtt gcagctttgt
     1081 aaatatttct ttaagattca gcctgagagt taggagaaat atttcagagc caaaagtgcc
     1141 ttatacaacc ttagcctatt atagtaaatc attcaaggat tcagaatttt gcagtcacag
     1201 aagagtgtat ttattatgta gaatgaatga gggtactgtc acctgcctta atgtaggtag
     1261 gcccagagtc ttacatttaa gatcttacat gcagttataa aaccgccaca gtcttcaatc
     1321 cagatttgaa gactcatgcc ataggtgaca ttctaaaata ccattaaagc cacttaaatg
     1381 ttaaataaga atatacatgc acatcagctc aatgtctttg agtattaatt ttatgtaagc
     1441 attctattta acatgaatat aggacaaatc atggctatat ctatagacct tggataaact
     1501 ggattgacca attatacact cacggtgact tttttattgg tgggaagggg attggggtgg
     1561 ggcaggctgg cttaatgtaa tatgagcaac caaagtggga cttctgtctc cccgctatat
     1621 tcccattgct ctgaatggtt gattgaaggg tcagggaact agattttatg gctttagttc
     1681 actgtgattg tacatttata cttggcctat gtgctggccg cacctgaaca tagctggtgc
     1741 ttatgccgag ttatttgcga tgagtaaata tttagtttct ttttcttcat atttataatg
     1801 ttgatctggc atcctcaggc tgcagcttta ttagcttata acttactcat ctctatcttt
     1861 accagcaggc tctgtattgt tgatatttgc aacttgtttt gcttttccat tggtggaatt
     1921 gaaataatta gtttttaatt acataagatg cctgtttgct atttggtgga agatagatgt
     1981 tcatattgaa gcagtcacat ttgtactgta gttcaataaa agaaaaatga agtattctgt
     2041 agcctatatt tttcatagag ctcatgagca tttactgtac ttgctgggtc ttgccaagat
     2101 catttattcc gctgcattgc caaagtgtct tcataccaaa ttaaaggtgg ttttaatata
     2161 tgtttcatgg aagttgttta taaaattcaa aggtatttca tttaggtgaa aagtcttatt
     2221 tattaaagtg gtttgaataa agtagatcaa aacttccaga gatcttaatg gctatatagg
     2281 aagaaatatc actcaccata atttaaataa agaataaaaa tacttgtatt ttgtggtggc
     2341 aaatgtttgg tagaactgta attagaaaaa tacaagtata tttgcgtgat ggttacacta
     2401 gaagcccaga ctttacgact acacaatata ttcatgtatc taaactgtac ttgtaccccc
     2461 taaatttatt tttaaaaaag gaaaaataaa agtatcatga aaaaacctat ttttttttcc
     2521 actgtccttc cactactccc ataacaaact tatccatggt tggtaaaatt ttacatattt
     2581 ctatccttga aatgaaggct tcttttaaat tccaaagaag tcatggaggc ctgtgcattt
     2641 gaattgtata tgctagtgag gaaaagattt agacatttca agagcagggt tggccaggcg
     2701 cggtggctca cacctgtaat cccagcactt tgggaggccg aggagggcgg atcacgaggt
     2761 caggagatcg agaccatcct ggctaacaca gtgaaacccc atctctacta aaaaaaaaaa
     2821 aaaaaaaaaa atgggctggg cgtggtggtg ggcacctgta gtcccagcta ctcaggaggc
     2881 tgaggcagga gaatggcgtg aacctgggag gcggagcttg cagtgagccg agattgcgcc
     2941 actgcactcc agcctgggcg acagaggaga ctctgtctca aaaaaaaaaa aaaaaaaaaa
     3001 gagcagggtc ataatcacac agcagtgcct tatatagttg ccataagact tcagtgcagt
     3061 acaacataat tttacagcta catatcaggg catattctat atggtgtatt tgtgttagaa
     3121 taacacatta aatgtcttta aacataaaaa taagaatgtt tgcatgtttc agttttcaag
     3181 aaccaaatga gtaattagct atagattcca ctggccttaa acatacaatt aagtgtatac
     3241 atgatatagt gcacacacaa aagccacctt taattattga aataacctgt attctttttg
     3301 gaaatcattt aagtttggta ttgaagtact atattttttg tgcatcaatg tatttttcta
     3361 tttacaagcc tatgtaaaag tgaagtgtat cttcagtgaa ccatgtgcca attaagctgt
     3421 aataaaaaag tggtctagtc tgtcaaa
//
