LOCUS       NM_013265               2661 bp    mRNA    linear   PRI 05-APR-2024
DEFINITION  Homo sapiens VPS51 subunit of GARP complex (VPS51), transcript
            variant 1, mRNA.
ACCESSION   NM_013265
VERSION     NM_013265.4
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 2661)
  AUTHORS   Chauhan,M., Betancourt,A., Balakrishnan,M., Mishra,A., Fox,K.,
            Belfort,M. and Yallampalli,C.
  TITLE     Soluble fms-like tyrosine kinase-1 and angiotensin2 target
            calcitonin gene-related peptide family peptides in maternal
            vascular smooth muscle cells in pregnancydagger
  JOURNAL   Biol Reprod 104 (5), 1071-1083 (2021)
   PUBMED   33624744
  REMARK    GeneRIF: Soluble fms-like tyrosine kinase-1 and angiotensin2 target
            calcitonin gene-related peptide family peptides in maternal
            vascular smooth muscle cells in pregnancydagger.
REFERENCE   2  (bases 1 to 2661)
  AUTHORS   Uwineza,A., Caberg,J.H., Hitayezu,J., Wenric,S., Mutesa,L.,
            Vial,Y., Drunat,S., Passemard,S., Verloes,A., El Ghouzzi,V. and
            Bours,V.
  TITLE     VPS51 biallelic variants cause microcephaly with brain
            malformations: A confirmatory report
  JOURNAL   Eur J Med Genet 62 (8), 103704 (2019)
   PUBMED   31207318
  REMARK    GeneRIF: This observation supports a pathogenic effect of VPS51
            variants, which has only been reported previously once, in a single
            child with microcephaly. It confirms the key role of membrane
            trafficking in normal brain development and homeostasis.
REFERENCE   3  (bases 1 to 2661)
  AUTHORS   Gershlick,D.C., Ishida,M., Jones,J.R., Bellomo,A., Bonifacino,J.S.
            and Everman,D.B.
  TITLE     A neurodevelopmental disorder caused by mutations in the VPS51
            subunit of the GARP and EARP complexes
  JOURNAL   Hum Mol Genet 28 (9), 1548-1560 (2019)
   PUBMED   30624672
REFERENCE   4  (bases 1 to 2661)
  AUTHORS   Schindler,C., Chen,Y., Pu,J., Guo,X. and Bonifacino,J.S.
  TITLE     EARP is a multisubunit tethering complex involved in endocytic
            recycling
  JOURNAL   Nat Cell Biol 17 (5), 639-650 (2015)
   PUBMED   25799061
REFERENCE   5  (bases 1 to 2661)
  AUTHORS   Abascal-Palacios,G., Schindler,C., Rojas,A.L., Bonifacino,J.S. and
            Hierro,A.
  TITLE     Structural basis for the interaction of the Golgi-Associated
            Retrograde Protein Complex with the t-SNARE Syntaxin 6
  JOURNAL   Structure 21 (9), 1698-1706 (2013)
   PUBMED   23932592
  REMARK    GeneRIF: A dityrosine motif of Ang2 interacts with a highly
            conserved groove in Syntaxin 6.
REFERENCE   6  (bases 1 to 2661)
  AUTHORS   Perez-Victoria,F.J., Schindler,C., Magadan,J.G., Mardones,G.A.,
            Delevoye,C., Romao,M., Raposo,G. and Bonifacino,J.S.
  TITLE     Ang2/fat-free is a conserved subunit of the Golgi-associated
            retrograde protein complex
  JOURNAL   Mol Biol Cell 21 (19), 3386-3395 (2010)
   PUBMED   20685960
  REMARK    GeneRIF: Ang2 is the missing component of the Golgi-associated
            retrograde protein complex in most eukaryotes.
REFERENCE   7  (bases 1 to 2661)
  AUTHORS   Lemmens,I., Merregaert,J., Van de Ven,W.J., Kas,K., Zhang,C.X.,
            Giraud,S., Wautot,V., Buisson,N., De Witte,K., Salandre,J.,
            Lenoir,G., Calender,A., Parente,F., Quincey,D., Courseaux,A.,
            Carle,G.F., Gaudray,P., De Wit,M.J., Lips,C.J., Hoppener,J.W.,
            Khodaei,S., Grant,A.L., Weber,G., Kytola,S., Thakker,R.V. et al.
  TITLE     Construction of a 1.2-Mb sequence-ready contig of chromosome 11q13
            encompassing the multiple endocrine neoplasia type 1 (MEN1) gene.
            The European Consortium on MEN1
  JOURNAL   Genomics 44 (1), 94-100 (1997)
   PUBMED   9286704
REFERENCE   8  (bases 1 to 2661)
  AUTHORS   Canestri,F.
  TITLE     A proposed clinical application of a model of CO2 laser radiation
            induced damage craters
  JOURNAL   J Med Eng Technol 12 (3), 112-117 (1988)
   PUBMED   3172165
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF024631.2, HY270070.1,
            AW007399.1 and AP003068.3.
            
            On Nov 24, 2018 this sequence version replaced NM_013265.3.
            
            Summary: This gene encodes a member of the vacuolar protein
            sorting-associated protein 51 family. The encoded protein is a
            component of the Golgi-associated retrograde protein complex which
            acts as a tethering factor for carriers in retrograde transport
            from the early and late endosomes to the trans-Golgi network.
            Alternative splicing results in multiple transcript variants.
            [provided by RefSeq, Dec 2012].
            
            Transcript Variant: This variant (1) represents the shorter
            transcript and encodes the functional protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF024631.2, SRR3476690.841371.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968189
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000279281.8/ ENSP00000279281.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2507              AF024631.2         4-2510
            2508-2653           HY270070.1         1-146               c
            2654-2659           AW007399.1         4-9                 c
            2660-2661           AP003068.3         71927-71928
FEATURES             Location/Qualifiers
     source          1..2661
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.1"
     gene            1..2661
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
                     /note="VPS51 subunit of GARP complex"
                     /db_xref="GeneID:738"
                     /db_xref="HGNC:HGNC:1172"
                     /db_xref="MIM:615738"
     exon            1..265
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
                     /inference="alignment:Splign:2.1.0"
     CDS             38..2386
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
                     /note="protein fat-free homolog; another new gene 2
                     protein; vacuolar protein sorting 51 homolog; VPS51, GARP
                     complex subunit"
                     /codon_start=1
                     /product="vacuolar protein sorting-associated protein 51
                     homolog"
                     /protein_id="NP_037397.2"
                     /db_xref="CCDS:CCDS8093.1"
                     /db_xref="GeneID:738"
                     /db_xref="HGNC:HGNC:1172"
                     /db_xref="MIM:615738"
                     /translation="MAAAAAAGPSPGSGPGDSPEGPEGEAPERRRKAHGMLKLYYGLS
                     EGEAAGRPAGPDPLDPTDLNGAHFDPEVYLDKLRRECPLAQLMDSETDMVRQIRALDS
                     DMQTLVYENYNKFISATDTIRKMKNDFRKMEDEMDRLATNMAVITDFSARISATLQDR
                     HERITKLAGVHALLRKLQFLFELPSRLTKCVELGAYGQAVRYQGRAQAVLQQYQHLPS
                     FRAIQDDCQVITARLAQQLRQRFREGGSGAPEQAECVELLLALGEPAEELCEEFLAHA
                     RGRLEKELRNLEAELGPSPPAPDVLEFTDHGGSGFVGGLCQVAAAYQELFAAQGPAGA
                     EKLAAFARQLGSRYFALVERRLAQEQGGGDNSLLVRALDRFHRRLRAPGALLAAAGLA
                     DAATEIVERVARERLGHHLQGLRAAFLGCLTDVRQALAAPRVAGKEGPGLAELLANVA
                     SSILSHIKASLAAVHLFTAKEVSFSNKPYFRGEFCSQGVREGLIVGFVHSMCQTAQSF
                     CDSPGEKGGATPPALLLLLSRLCLDYETATISYILTLTDEQFLVQDQFPVTPVSTLCA
                     EARETARRLLTHYVKVQGLVISQMLRKSVETRDWLSTLEPRNVRAVMKRVVEDTTAID
                     VQVGLLYEEGVRKAQSSDSSKRTFSVYSSSRQQGRYAPSYTPSAPMDTNLLSNIQKLF
                     SERIDVFSPVEFNKVSVLTGIIKISLKTLLECVRLRTFGRFGLQQVQVDCHFLQLYLW
                     RFVADEELVHLLLDEVVASAALRCPDPVPMEPSVVEVICERG"
     exon            266..395
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
                     /inference="alignment:Splign:2.1.0"
     exon            396..542
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
                     /inference="alignment:Splign:2.1.0"
     exon            543..762
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
                     /inference="alignment:Splign:2.1.0"
     exon            763..1480
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
                     /inference="alignment:Splign:2.1.0"
     exon            1481..1696
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
                     /inference="alignment:Splign:2.1.0"
     exon            1697..1915
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
                     /inference="alignment:Splign:2.1.0"
     exon            1916..2037
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
                     /inference="alignment:Splign:2.1.0"
     exon            2038..2125
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
                     /inference="alignment:Splign:2.1.0"
     exon            2126..2661
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2486..2491
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
                     /note="hexamer: AATAAA"
     polyA_site      2507
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
                     /note="major polyA site"
     polyA_site      2661
                     /gene="VPS51"
                     /gene_synonym="ANG2; ANG3; C11orf2; C11orf3; FFR; PCH13"
ORIGIN      
        1 ctttccagcc tcacgcccgt gggctgcagt tggaacgatg gcggcggcag ctgccgccgg
       61 gcctagcccg gggtctggac ctggggactc cccagaaggg cccgaggggg aggctccgga
      121 gcgtcggcgg aaggcgcacg ggatgctgaa gctttactac ggcctctcgg aaggggaggc
      181 ggcgggacgc cccgcggggc ccgaccccct ggacccgact gatctgaacg gggcgcactt
      241 cgacccggaa gtttacctag acaagctgcg tagagagtgc cctctggccc agttgatgga
      301 cagtgagacg gacatggtgc ggcagatccg ggctctagac agcgacatgc agaccctggt
      361 ctatgagaac tacaacaagt tcatctcagc cacagacacc atccggaaga tgaagaacga
      421 tttccggaag atggaggatg agatggaccg gctggccacc aacatggcag tgatcaccga
      481 cttcagcgct cgcatcagcg ccacgctgca ggaccgccac gagcgcatca ccaagctggc
      541 aggggtccac gcgctgctgc ggaagctgca gttcctcttt gagctgccct cgcgcctcac
      601 caagtgcgtg gaactgggcg cctatgggca ggcggtgcgc taccagggcc gcgcgcaggc
      661 cgtgctgcag cagtaccaac acctgccctc gttccgcgcc atccaggacg actgccaggt
      721 catcacggcc cgcctggccc agcagctgcg gcagcgcttt agggagggcg gctcaggcgc
      781 cccggagcag gcagagtgcg tggagctgct gctggccctg ggcgagcctg cggaggagct
      841 gtgcgaggag ttcctggcgc acgcccgcgg ccggctggag aaggagctga gaaacctgga
      901 ggccgagctg gggccctcac ctccggctcc cgacgtgtta gagttcaccg accatggagg
      961 cagtggcttc gtgggcggcc tctgccaggt ggcggcggcc taccaggagc tgtttgcggc
     1021 ccagggccca gcaggtgccg agaagctggc ggccttcgcc cggcagctgg gcagccgcta
     1081 ttttgcgctg gtggagcggc ggctggcgca ggagcagggt ggtggtgaca actcactgct
     1141 ggtgcgggcg ctggaccgct tccaccggcg cttgcgggct cccggggccc tgctggccgc
     1201 tgccgggctc gcagacgctg ccacggagat cgtggaacga gtggcccgcg agcgcctggg
     1261 ccaccacctg cagggtctcc gggcggcctt cctgggctgc ctgacagacg tccgccaggc
     1321 gctggcagca cctcgcgtgg ctgggaagga gggccctggc ctggccgagt tgctggccaa
     1381 tgtggccagc tccatcctga gccacattaa ggcctctctg gcagcagtgc accttttcac
     1441 cgccaaagag gtgtccttct ccaacaagcc ctacttccgg ggtgagttct gcagtcaggg
     1501 tgtccgtgag ggcctcatcg tgggcttcgt ccactctatg tgccagacgg ctcagagctt
     1561 ctgcgacagc cctggggaga aggggggtgc cacaccacct gccctgctcc tgctgctctc
     1621 ccgcctctgc ctggactacg agacggccac catctcctac atcctcactc tcactgatga
     1681 acagtttctg gtgcaggatc agttcccagt gacgcccgtg agcacgctgt gtgcagaggc
     1741 cagggaaacg gcgcggcggc tgctgaccca ctacgtgaag gtgcagggcc tggtcatatc
     1801 acagatgctg cgcaagagcg tggagactcg cgactggctc agcactctgg agccccggaa
     1861 tgtgcgggcc gtcatgaagc gggtggtgga ggataccacc gccatcgacg tgcaggtggg
     1921 gctcctgtac gaagagggtg ttcgcaaggc ccagagcagc gactccagca agaggacttt
     1981 ctccgtgtac agcagctctc ggcagcaggg ccgctacgcc cccagctata cccccagtgc
     2041 cccgatggac accaacctct tgagcaatat ccagaagcta ttctctgaac gtattgatgt
     2101 gttcagccct gtggagttca acaaggtgtc ggtgctgacc ggcatcatca agatcagcct
     2161 gaagacgctg ctggagtgtg tgcggctgcg cacctttggg cgcttcgggc tgcagcaggt
     2221 gcaagtggac tgccactttc tgcagctcta cctgtggcgt tttgtggccg acgaagaact
     2281 cgtgcacttg ctgctggacg aagtggtggc ctctgctgcc ctgcgctgcc cagaccctgt
     2341 gcccatggag cccagtgtgg ttgaggtcat ctgcgagcgc ggctaggcgc agccgctgcc
     2401 atgcaccggt ctgtccctgc accccatggc acccaggatc tggtctcggt ggtccttccc
     2461 cgcaggcagg tgtcaggacc ggcctaataa acatgtgtgg cctcctcctc tcgcttgctg
     2521 ggcgggcctt tccgggggcg gggttttgaa gctgaggctt ctgaggcgcc cgcgtcgggt
     2581 ccgcccccga gcgccgattg gctggtgtgc tgggcccagc atgggcaggg ggcggttcca
     2641 cttaaaaacc ctgggacgag a
//
