LOCUS       NM_001130142            4300 bp    mRNA    linear   PRI 16-DEC-2024
DEFINITION  Homo sapiens von Willebrand factor A domain containing 5A (VWA5A),
            transcript variant 3, mRNA.
ACCESSION   NM_001130142
VERSION     NM_001130142.2
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 4300)
  AUTHORS   Koh,J., Jeong,D., Park,S.Y., Han,D., Kim,D.S., Kim,H.Y., Kim,H.,
            Yang,S., Kim,S. and Ryu,H.S.
  TITLE     Identification of VWA5A as a novel biomarker for inhibiting
            metastasis in breast cancer by machine-learning based protein
            prioritization
  JOURNAL   Sci Rep 14 (1), 2459 (2024)
   PUBMED   38291227
  REMARK    GeneRIF: Identification of VWA5A as a novel biomarker for
            inhibiting metastasis in breast cancer by machine-learning based
            protein prioritization.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4300)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 4300)
  AUTHORS   Anghel,S.I., Correa-Rocha,R., Budinska,E., Boligan,K.F.,
            Abraham,S., Colombetti,S., Fontao,L., Mariotti,A., Rimoldi,D.,
            Ghanem,G.E., Fisher,D.E., Levy,F., Delorenzi,M. and Piguet,V.
  TITLE     Breast cancer suppressor candidate-1 (BCSC-1) is a melanoma tumor
            suppressor that down regulates MITF
  JOURNAL   Pigment Cell Melanoma Res 25 (4), 482-487 (2012)
   PUBMED   22594792
  REMARK    GeneRIF: BCSC-1 binds to Sox10, which down regulates MITF, and
            results in a switch of melanoma cells from a proliferative to a
            migratory phenotype.
            Erratum:[Pigment Cell Melanoma Res. 2012 Nov;25(6):834.
            Correa-Rochal, Rafael [corrected to Correa-Rocha, Rafael];
            Boliganl, Kayluz F [corrected to Boligan, Kayluz F]]
REFERENCE   4  (bases 1 to 4300)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   5  (bases 1 to 4300)
  AUTHORS   Walter,S., Atzmon,G., Demerath,E.W., Garcia,M.E., Kaplan,R.C.,
            Kumari,M., Lunetta,K.L., Milaneschi,Y., Tanaka,T., Tranah,G.J.,
            Volker,U., Yu,L., Arnold,A., Benjamin,E.J., Biffar,R.,
            Buchman,A.S., Boerwinkle,E., Couper,D., De Jager,P.L., Evans,D.A.,
            Harris,T.B., Hoffmann,W., Hofman,A., Karasik,D., Kiel,D.P.,
            Kocher,T., Kuningas,M., Launer,L.J., Lohman,K.K., Lutsey,P.L.,
            Mackenbach,J., Marciante,K., Psaty,B.M., Reiman,E.M., Rotter,J.I.,
            Seshadri,S., Shardell,M.D., Smith,A.V., van Duijn,C., Walston,J.,
            Zillikens,M.C., Bandinelli,S., Baumeister,S.E., Bennett,D.A.,
            Ferrucci,L., Gudnason,V., Kivimaki,M., Liu,Y., Murabito,J.M.,
            Newman,A.B., Tiemeier,H. and Franceschini,N.
  TITLE     A genome-wide association study of aging
  JOURNAL   Neurobiol Aging 32 (11), 2109 (2011)
   PUBMED   21782286
REFERENCE   6  (bases 1 to 4300)
  AUTHORS   Zhou,Y.Q., Chen,S.L., Ju,J.Y., Shen,L., Liu,Y., Zhen,S., Lv,N.,
            He,Z.G. and Zhu,L.P.
  TITLE     Tumor suppressor function of BCSC-1 in nasopharyngeal carcinoma
  JOURNAL   Cancer Sci 100 (10), 1817-1822 (2009)
   PUBMED   19656157
  REMARK    GeneRIF: BCSC-1 suppression might play roles in tumorigenesis of
            some nasopharyngeal carcinomas
REFERENCE   7  (bases 1 to 4300)
  AUTHORS   Martin,E.S., Cesari,R., Pentimalli,F., Yoder,K., Fishel,R.,
            Himelstein,A.L., Martin,S.E., Godwin,A.K., Negrini,M. and
            Croce,C.M.
  TITLE     The BCSC-1 locus at chromosome 11q23-q24 is a candidate tumor
            suppressor gene
  JOURNAL   Proc Natl Acad Sci U S A 100 (20), 11517-11522 (2003)
   PUBMED   14504409
REFERENCE   8  (bases 1 to 4300)
  AUTHORS   Monaco,C., Negrini,M., Sozzi,G., Veronese,M.L., Vorechovsky,I.,
            Godwin,A.K. and Croce,C.M.
  TITLE     Molecular cloning and characterization of LOH11CR2A, a new gene
            within a refined minimal region of LOH at 11q23
  JOURNAL   Genomics 46 (2), 217-222 (1997)
   PUBMED   9417908
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY366508.1, BM990294.1 and AP000818.4.
            
            On May 17, 2019 this sequence version replaced NM_001130142.1.
            
            Transcript Variant: This variant (3) represents the longest
            transcript and encodes the longer isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.31595.1,
                                           SRR1803616.154816.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000456829.7/ ENSP00000407726.2
            RefSeq Select criteria :: based on conservation
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3488              AY366508.1         47-3534
            3489-3491           BM990294.1         16-18               c
            3492-4300           AP000818.4         64394-65202
FEATURES             Location/Qualifiers
     source          1..4300
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q24.2"
     gene            1..4300
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /note="von Willebrand factor A domain containing 5A"
                     /db_xref="GeneID:4013"
                     /db_xref="HGNC:HGNC:6658"
                     /db_xref="MIM:602929"
     exon            1..33
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            34..148
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            149..206
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     CDS             164..2524
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /note="isoform 1 is encoded by transcript variant 3;
                     ortholog of mouse AW551984; loss of heterozygosity, 11,
                     chromosomal region 2, gene A; von Willebrand factor A
                     domain-containing protein 5A; breast cancer suppressor
                     candidate 1; loss of heterozygosity 11 chromosomal region
                     2 gene A protein"
                     /codon_start=1
                     /product="von Willebrand factor A domain-containing
                     protein 5A isoform 1"
                     /protein_id="NP_001123614.1"
                     /db_xref="CCDS:CCDS8444.1"
                     /db_xref="GeneID:4013"
                     /db_xref="HGNC:HGNC:6658"
                     /db_xref="MIM:602929"
                     /translation="MVHFCGLLTLHREPVPLKSISVSVNIYEFVAGVSATLNYENEEK
                     VPLEAFFVFPMDEDSAVYSFEALVDGKKIVAELQDKMKARTNYEKAISQGHQAFLLEG
                     DSSSRDVFSCNVGNLQPGSKAAVTLKYVQELPLEADGALRFVLPAVLNPRYQFSGSSK
                     DSCLNVKTPIVPVEDLPYTLSMVATIDSQHGIEKVQSNCPLSPTEYLGEDKTSAQVSL
                     AAGHKFDRDVELLIYYNEVHTPSVVLEMGMPNMKPGHLMGDPSAMVSFYPNIPEDQPS
                     NTCGEFIFLMDRSGSMQSPMSSQDTSQLRIQAAKETLILLLKSLPIGCYFNIYGFGSS
                     YEACFPESVKYTQQTMEEALGRVKLMQADLGGTEILAPLQNIYRGPSIPGHPLQLFVF
                     TDGEVTDTFSVIKEVRINRQKHRCFSFGIGEGTSTSLIKGIARASGGTSEFITGKDRM
                     QSKALRTLKRSLQPVVEDVSLSWHLPPGLSAKMLSPEQTVIFRGQRLISYAQLTGRMP
                     AAETTGEVCLKYTLQGKTFEDKVTFPLQPKPDVNLTIHRLAAKSLLQTKDMGLRETPA
                     SDKKDALNLSLESGVISSFTAFIAINKELNKPVQGPLAHRDVPRPILLGASAPLKIKC
                     QSGFRKALHSDRPPSASQPRGELMCYKAKTFQMDDYSLCGLISHKDQHSPGFGENHLV
                     QLIYHQNANGSWDLNEDLAKILGMSLEEIMAAQPAELVDSSGWATILAVIWLHSNGKD
                     LKCEWELLERKAVAWMRAHAGSTMPSVVKAAITFLKSSVDPAIFAF"
     exon            207..409
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            410..632
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            633..808
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            809..923
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            924..1093
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1094..1182
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..1327
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1328..1407
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1408..1522
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1523..1687
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1688..1788
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            1789..2042
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            2043..2186
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            2187..2317
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            2318..2444
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     exon            2445..4300
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2640..2645
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /note="hexamer: AGTAAA"
     polyA_site      2659
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /note="major polyA site"
     regulatory      3457..3462
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /note="hexamer: ATTAAA"
     polyA_site      3480
                     /gene="VWA5A"
                     /gene_synonym="BCSC-1; BCSC1; LOH11CR2A"
                     /note="major polyA site"
ORIGIN      
        1 gactcagagc gctccgggct gcaggagagg aagcccagcc tgttctacca gagaacttgc
       61 ccaggtcaga ggtctgcgta gaagcccttt tctgagcatc ctctcctctc ctcacacctg
      121 ccactgtcct ctgcgttgct gtcgaattaa atcttgcatc accatggtgc acttctgtgg
      181 cctactcacc ctccaccggg agccagtgcc gctgaagagt atctctgtga gcgtgaacat
      241 ttacgagttt gtggctggtg tgtctgcaac tttgaactac gagaatgagg agaaagttcc
      301 tttggaggcc ttctttgtgt tccccatgga tgaagactct gctgtttaca gctttgaggc
      361 cttggtggat gggaagaaaa ttgtagcaga attacaagac aagatgaagg cccgcaccaa
      421 ctatgagaaa gccatctccc agggccacca ggccttctta ttggaggggg acagcagctc
      481 cagggatgtc ttctcttgca atgtgggtaa cctccaacct gggtcgaagg cggcagtcac
      541 cctgaagtat gtgcaggagc tgcctctgga agcagatggg gctctgcgct ttgtgctccc
      601 agctgtcctg aatcctagat accagttctc tgggtcgtct aaggacagtt gccttaatgt
      661 gaagactcct atagtccctg tggaggacct gccctacaca ctcagcatgg tcgccaccat
      721 agattcccag catggcattg agaaggtcca atccaactgc cccttgagtc ctaccgagta
      781 cctaggagag gacaagactt ctgctcaggt ttccctggct gctggacaca agtttgatcg
      841 ggacgtggaa ctcctgattt actacaatga ggtgcatacc cccagcgtgg ttttggagat
      901 ggggatgcct aacatgaagc caggtcattt gatgggagat ccatctgcaa tggtgagttt
      961 ctatccaaat atcccagaag atcaaccatc aaatacctgt ggagagttta tctttctcat
     1021 ggaccgctcg ggaagtatgc agagccccat gagtagccag gatacatctc agctgcgaat
     1081 acaggcagcc aaggaaacac tgattttgct gctgaagagt ttacctatag gctgttattt
     1141 caacatctat ggatttggct cttcctatga ggcatgcttt ccggagagtg tgaagtacac
     1201 tcagcaaaca atggaggagg ctctggggag agtgaagctt atgcaggccg acctaggggg
     1261 cactgaaatc ttggcaccac tccagaacat ttacagggga ccctccatcc caggccaccc
     1321 cctacagctt tttgtcttta cagatggaga agttacagac acgtttagtg taattaaaga
     1381 agttaggatc aacagacaga aacacaggtg tttctcattt ggtattggag aaggcacctc
     1441 caccagccta ataaaaggta ttgcccgggc atcagggggc acctcagaat ttatcacagg
     1501 caaagacagg atgcagtcca aggctctcag gactctgaaa cgctctctgc agcctgtggt
     1561 agaggatgtc tctctgagct ggcatttgcc tcctggtctg tctgctaaaa tgctttcccc
     1621 agaacagact gtcatcttta ggggtcagag attaatcagc tatgcccagc tgaccgggag
     1681 gatgccagca gcagagacaa caggagaagt atgcctcaaa tatacactcc agggcaagac
     1741 ttttgaggat aaggtgacat ttcctctaca acccaagcct gatgtcaacc tcaccattca
     1801 ccgccttgct gccaagtcct tgctccagac caaggacatg ggcctcaggg agactccagc
     1861 aagtgataaa aaagatgcat tgaaccttag ccttgagtct ggtgtcataa gctccttcac
     1921 agctttcatt gctatcaata aggagctcaa caagccggtt caggggcctc tggctcatag
     1981 ggacgtccca aggccaattc tgttgggtgc ttctgcccca ttgaagataa aatgccaatc
     2041 aggttttcga aaggccttac actctgaccg tcctccttct gcatctcagc ccagagggga
     2101 acttatgtgt tataaggcca agacattcca gatggacgat tacagtctct gtgggttgat
     2161 aagtcacaag gaccagcaca gtccaggctt tggagagaat caccttgtgc agctgattta
     2221 ccaccaaaat gcaaatggtt cctgggatct gaatgaagat ctagccaaga tcctaggtat
     2281 gagtttggaa gaaataatgg ctgcacagcc tgccgagctt gtggattcct caggctgggc
     2341 caccatcctg gccgtgatct ggctgcacag caatggtaag gacttgaagt gtgaatggga
     2401 gcttctggaa aggaaggccg tggcctggat gcgtgcccat gcaggctcca ccatgccttc
     2461 ggttgtgaaa gctgctatta ctttcctgaa gtcatctgtg gatcctgcta tctttgcctt
     2521 ttgaagatac catccagaaa aagaagtgcc tttaatttgc tactgtcatt tcctctagta
     2581 tcacttttgc tgtgatgatg tgttcttgtg tattataact ctttattttt tgccataaaa
     2641 gtaaaggatg cttactccac ttcgcttctc tgctccaggt tcactttgga tatgatcttt
     2701 cttttcccaa catatgccct cagaaaagtg acagtggtcc cagaacctat tccctttctt
     2761 gagggagttc aaaacattca taggcagtaa tgttcctccc agggtttcca gggaaacaac
     2821 atgaaaaaca ggtgacatga actacagact aaagattgca gcatttatgt tagagaatgc
     2881 ttgaattaga gaattttctg cattatcttt gtctgttcac tttctatctt atatacttat
     2941 cagggccata ctggtaagct tgcgtaggag gagttagagg gaagttgaaa gccaacatct
     3001 ggatcaatgt aatgtcaaga tcacaaagac agagactgca ggggtccact gtgagaggtg
     3061 acactgttgg ggaccttcct gattcattct tcttgggctt tgctagcctg tacaacctac
     3121 atgtcttttc ttccactgcc tgaaagactt gggttgaact ataactgttg gagagagatg
     3181 ttcctcttta atcatgaaac accttaagaa gtctataatg caatccttag tcctaccctg
     3241 aacctatgtg tcctctaagt caggccctga tctagtgcag taaagggaag ggtgggctta
     3301 atgggagctt tgcctgggac ctgaacctgg agcacttacc gcattaggaa gaaaggagct
     3361 ccccgtaatc gttcctgacc cttgtgtctc atatacccta tcctggtgga aatgacccta
     3421 tttgatatgc tgtcccttaa aataacttgt atcaatatta aaatgactat ttctaccctt
     3481 tgatgagtaa atgcagtggt tcttaaagtg gtctcgtctc cctaccccac aatattttgg
     3541 tactgccact ttgggaagcc aaactaggat agtaaattga ccggaacaca gttgtggaaa
     3601 tttgacctga agttagtgaa ataaaactta gtagggaaaa aaagcttagc aagaggtcta
     3661 ctcctccata gattcattta ttgaacttac attggtttta ttgtcccttg ttttctgttc
     3721 cagcttttct gatgcctcca ctgttcccat ggtatcctga ccctctatct tctgttgtag
     3781 gctgacttct tttatatgaa gcaagtaaag gatactaata agaataccac tgtagaatcc
     3841 tgaccatacc cttaaatagt tatgtgatga tgggcaaatg atttcaccct caggcactta
     3901 atatcctcat ctgtaaaact aagggattaa actagaactt tattaacact ttcgagttcc
     3961 actcagaatt cctagaggaa catcggtgac ttttcactca gaaagtgggt ggactaggcc
     4021 tgagtttctt taagttgttg agttacctgg tattaggaag acttgtgtga cttgcatagt
     4081 ggactctaat ctctcagtct ttcttccaag tttgtttatg ctgaatgtga tctgcggaac
     4141 agggttgtta gaaatgcagc tttttagaaa tgcagaattt taatcgatac caggaactac
     4201 tttatttaac aaggctccca ggtatcatgc atgcacattg aagtttgaaa agtaaaggct
     4261 taatattttc atgaaatagg cttatatcca agcctgccat
//
