LOCUS       NM_173615               4599 bp    mRNA    linear   PRI 27-FEB-2025
DEFINITION  Homo sapiens von Willebrand factor A domain containing 3A (VWA3A),
            mRNA.
ACCESSION   NM_173615 XM_001128580 XM_001131261 XR_015198 XR_015789
VERSION     NM_173615.5
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 4599)
  AUTHORS   Grunin,M., Beykin,G., Rahmani,E., Schweiger,R., Barel,G.,
            Hagbi-Levi,S., Elbaz-Hayoun,S., Rinsky,B., Ganiel,M., Carmi,S.,
            Halperin,E. and Chowers,I.
  TITLE     Association of a Variant in VWA3A with Response to Anti-Vascular
            Endothelial Growth Factor Treatment in Neovascular AMD
  JOURNAL   Invest Ophthalmol Vis Sci 61 (2), 48 (2020)
   PUBMED   32106291
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DA240074.1, AK307544.1, DA102773.1, BC109295.1, AC009019.10 and
            BC038400.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_173615.4.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA1968968,
                              SAMEA2144333 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000389398.10/ ENSP00000374049.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 DA240074.1         4-4
            2-941               AK307544.1         1-940
            942-1364            DA102773.1         138-560
            1365-3109           BC109295.1         96-1840
            3110-3110           AC009019.10        132006-132006
            3111-4599           BC038400.1         559-2047
FEATURES             Location/Qualifiers
     source          1..4599
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p12.2"
     gene            1..4599
                     /gene="VWA3A"
                     /note="von Willebrand factor A domain containing 3A"
                     /db_xref="GeneID:146177"
                     /db_xref="HGNC:HGNC:27088"
                     /db_xref="MIM:621113"
     exon            1..111
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..3652
                     /gene="VWA3A"
                     /note="von Willebrand factor A domain-containing protein
                     3A"
                     /codon_start=1
                     /product="von Willebrand factor A domain-containing
                     protein 3A precursor"
                     /protein_id="NP_775886.3"
                     /db_xref="CCDS:CCDS45441.1"
                     /db_xref="GeneID:146177"
                     /db_xref="HGNC:HGNC:27088"
                     /db_xref="MIM:621113"
                     /translation="MKKYRKISIGCFAMATQTSHVFHGQENMFLENHCIRRNTGRDSK
                     KPLKQKNMNGLGQNSDNGLLVTHVNQTQDLLRLQGSETQSSDWEDSEDWLSAHSLKCQ
                     KLTLADLISQGTEVLEEGTNVVQKICFSTQIIRHFESKLSDTIEVYQERIQWLTENSK
                     KAFGLIKGARVSILIDVSAISSGPQKEEFQKDLMSLIDEQLSHKEKLFVLSFGTNAGS
                     LWPDPMEVSASTLQELKLWVKTLQPDGGSNLLQALKKIFTLKGLDSLVAIMRSCPDQP
                     SEILSDYIQQSTMGRDLIIHFITYRCDDQMPPAVLKNLAEAVRGYYHCYSPKMEHYTS
                     RDMDELLAEIQKAQSLLSHVQALQHSSPCEALTCTMEEISTEITNGPLISLLPKPPKH
                     DAPLTIEFPNLDKTSAEWLKVNGLKAKKLSLYQVLAPNAFSPVEEFVPILQKTVSSTI
                     HEKAMIQFEWHDGTVKNIHVDPPFLYKYQQQLSRAMRMYERRIEWLSLASRRIWGTVC
                     EKRVVVLLDISATNSMYIIHIQHSLRLLLEEQLSNKDCFNLIAFGSTIESWRPEMVPV
                     SHNNLQSAWRWALNLRCRGSRNVLSALRKAVEVDFKDKDKHQSQGIYLFTGGIPDQDM
                     PTLSAYMAEACGGCDLQLNVCLFYVGEPKMDTTPPARYASHTDTAAAYKEVTRAAGGR
                     FHWFGDTGIYESDDINSIMSEMEKALNYSQKCAFLMASLKNHSGKVLGSSALPKEKPK
                     TLQLRSQPKKLCPPRPTVPLGARMSIKDDPDREKSPPLKSLKWRPLSSRVGISPAAAQ
                     PTKEGMMELRRKTKSREAETSLLLFYTEKGNDVGSVYKKYPQGRGLRRTSSSIDLPRK
                     DTVCSSQEWVAKYGLKKLKLEISRCMGPNCTHQKSGQRSASAKHCSIFPSVEIHGVVR
                     HIQWTPREMEVYIRHLEKVLRRYVQRLQWLLSGSRRLFGTVLESKVCILLDTSGSMGP
                     YLQQVKTELVLLIWEQLRKCCDSFNLLSFAESFQSWQDTLVETTDAACHEAMQWVTHL
                     QAQGSTSILQALLKAFSFHDLEGLYLLTDGKPDTSCSLVLNEVQKLREKRDVKVHTIS
                     LNCSDRAAVEFLRKLASFTGGRYHCPVGEDTLSKIHSLLTKGFINEKDPTLPPFEGDD
                     LRILAQEITKARSFLWQAQSFRSQLQKKNDAEPKVTLS"
     exon            112..198
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            199..322
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            323..447
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            448..525
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            526..580
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            581..679
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            680..786
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            787..912
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            913..1021
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1022..1087
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1088..1213
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1214..1349
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1350..1453
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1454..1534
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1535..1629
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1630..1749
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1750..1824
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1825..1969
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            1970..2165
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            2166..2236
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            2237..2389
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            2390..2480
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            2481..2591
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            2592..2689
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            2690..2827
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            2828..2936
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            2937..3081
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            3082..3226
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            3227..3378
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            3379..3502
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            3503..3600
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            3601..3666
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     exon            3667..4599
                     /gene="VWA3A"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4576..4581
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VWA3A"
                     /note="hexamer: AATAAA"
     polyA_site      4599
                     /gene="VWA3A"
                     /note="major polyA site"
ORIGIN      
        1 gagttgcttg gaggagcttg gagaaaccag aagtgagatc caggagaagt aaggccctgg
       61 agtgccagga gcccttctcc caaagatgga gaaataaatg aagaaataca ggaaaataag
      121 cattgggtgt tttgcaatgg ctacacaaac tagtcatgtc ttccatggtc aagaaaatat
      181 gtttctggaa aaccattgca ttaggagaaa cactggcaga gattcaaaga agccactaaa
      241 gcagaagaat atgaatggac ttgggcaaaa ttcggacaat ggattattgg ttacacatgt
      301 taaccagaca caggacttac tgaggctgca ggggagtgag acccagtctt cagattggga
      361 ggactctgaa gactggcttt cggctcacag tttaaaatgt cagaaactca ccttggctga
      421 cctgataagc cagggcacag aagtgctgga ggagggcacc aatgtcgtgc agaaaatatg
      481 tttctccacc cagatcatcc gccattttga gtcaaagctt tctgacacta ttgaagtcta
      541 tcaagagaga attcagtggc tcacagaaaa cagcaagaag gcatttggcc tcatcaaagg
      601 ggccagagtc agcatcctca tagatgtgtc agccatcagc agtggccctc agaaagaaga
      661 gttccaaaag gacctcatga gcctcatcga tgagcagctg agccacaagg agaagctgtt
      721 tgtcctgtcc tttggcacca atgccgggtc cctctggcca gaccccatgg aagtcagcgc
      781 ctccaccctc caggaactta agctctgggt aaagacgctg cagcctgatg gaggcagcaa
      841 cctgctacaa gctctgaaga agatcttcac tctcaaggga ctggattccc tggtggccat
      901 catgagaagc tgcccagatc agccttctga aatcctgtct gactacatcc agcagtccac
      961 catgggaaga gacctcatca tccacttcat cacctacaga tgcgatgatc agatgccccc
     1021 tgctgtcctg aagaaccttg cagaagctgt taggggctac taccactgct acagcccaaa
     1081 gatggagcac tacaccagcc gggacatgga tgagctcctg gcagaaattc agaaggccca
     1141 gagcctcctc agccacgtgc aagccctgca gcacagcagc ccctgtgagg cgctcacctg
     1201 caccatggag gagatttcca cagagattac aaatgggcca ctcataagcc tcttgcctaa
     1261 acccccaaag catgacgctc ctctcaccat tgagtttcca aacttggaca agacttctgc
     1321 agagtggctt aaggtcaatg gtctgaaagc caagaaatta agtctatatc aggtcctggc
     1381 acccaatgca ttctctcctg tggaggaatt tgtacctatt ctccagaaaa cagtatcatc
     1441 gaccatccat gagaaggcaa tgatacaatt tgaatggcac gacgggacag tgaagaacat
     1501 tcatgtggac ccacccttcc tctataagta ccagcaacag ctcagcagag ctatgcggat
     1561 gtatgagagg cggattgagt ggctctccct ggccagcaga agaatctggg gcacagtctg
     1621 tgaaaaaagg gtggttgtac tgctcgatat ctctgcgacc aattccatgt acattattca
     1681 tatccagcac tccctgcggc tgctgctgga ggagcagtta tccaacaagg actgtttcaa
     1741 cctcatcgcg tttggaagca caattgaaag ctggaggcct gagatggttc ccgtgagtca
     1801 caacaattta caaagtgcct ggcggtgggc cctgaacctg cggtgtcggg gcagcaggaa
     1861 cgttctcagc gccctgcgga aggctgtgga agtagacttc aaggacaaag acaaacacca
     1921 atcgcaggga atctacctct tcactggggg catccccgac caggacatgc ctacactcag
     1981 tgcctacatg gctgaggcct gtggcggctg cgacctccag ctgaacgtgt gtctcttcta
     2041 cgtgggcgag ccaaagatgg acaccacacc ccctgcccgc tatgccagtc acactgacac
     2101 agccgccgcc tacaaggagg tcacccgggc tgcaggtggc cgcttccact ggtttggaga
     2161 cacaggcatt tatgagagcg atgacatcaa ctccatcatg tctgagatgg aaaaggctct
     2221 caactactcc caaaagtgtg ccttcctcat ggcctccctg aagaaccatt caggaaaagt
     2281 actgggaagt tcagccctcc cgaaagaaaa accaaagaca cttcagctaa gaagtcagcc
     2341 caagaagctc tgccctccca ggcccaccgt ccccctgggg gccagaatga gcattaaaga
     2401 tgaccctgac agagagaaga gccccccgct gaaatctctg aaatggcgtc cactcagtag
     2461 cagagttggc atctcaccag ctgcggccca gccaacgaaa gaagggatga tggaactgag
     2521 gaggaagacc aagtcaaggg aagcagagac atctctttta ctgttctaca cagagaaagg
     2581 gaatgacgtg ggctcagtgt acaagaagta ccctcaagga aggggcttga gaaggactag
     2641 ctcttctatt gacttaccca gaaaggatac agtttgctca agccaagagt gggtggcaaa
     2701 atatgggctc aaaaaattga agctggagat ttccagatgc atgggtccca actgcactca
     2761 tcaaaagtca ggacagaggt cagcatccgc caaacactgc agcatcttcc ccagcgttga
     2821 gatccatgga gtggtgagac acatccagtg gacgcccagg gagatggagg tgtacatcag
     2881 gcacttggag aaggtgttaa ggcgctatgt ccagaggctg cagtggctgc tgtccgggag
     2941 ccgccgactg tttggcaccg ttttggagag caaagtatgc atattgctgg acacgtcagg
     3001 gtccatgggc ccctacctgc agcaggtgaa gacagagctg gttttgctga tttgggaaca
     3061 gctgcggaag tgctgtgaca gttttaacct gctcagcttt gcagagagct ttcagtcatg
     3121 gcaggacacg ctggtggaga ccacagatgc agcgtgtcat gaggctatgc aatgggtgac
     3181 ccacctgcaa gctcagggca gcacctccat cttgcaagca ttgctgaaag ctttcagttt
     3241 ccatgatctg gaaggattgt acctcctgac cgacggaaag ccagacacaa gctgcagcct
     3301 tgtcctaaat gaagtccaaa aactcaggga gaaaagagat gtgaaagtgc acaccatttc
     3361 cttgaactgc tcagacagag cggcggttga gttcctgaga aagctggctt ccttcaccgg
     3421 cggacgctat cactgccctg tgggtgagga cacactctcc aaaattcaca gcctgctgac
     3481 caaaggcttc atcaatgaaa aggatcccac attgccacca tttgaaggag atgatttaag
     3541 gatcctggcc caggagatca ccaaggccag aagcttcctc tggcaggccc aatccttcag
     3601 atcccaactc cagaagaaaa atgatgcaga accaaaggtc actctttcct agagaagtgt
     3661 tctcagaaaa gtcatcctgc aaaggaccac tcactgagca aatctcagcc ccgagggcag
     3721 gatgggatga aatgctgtga cctgcaggaa acatgattcc tggtaccagg actctctgga
     3781 agctgaggaa ggaaagactt tgtcttttgt gtgaggggcc attcccgggt cttaatctaa
     3841 ctctccagcc ctgtcccgca gcgcactcta ctctccagcc actagattgt ccctctctgg
     3901 gaagccctaa accaaccccc tgcctaaatg gtggtgcttc ttgcaaacca accccctgcc
     3961 tgaacggtgc ttcttgcccc ctctgcctgg agactcctgc tcatccatca aggcacagct
     4021 caaatgacat cagctccctg ggacctatct agagcgaggg gcctccagtc tttctcttgc
     4081 agcatcctga ccacgcagac ctctcgcact cagcactcta tgtcacgcca ccttgctcgc
     4141 tgatctaact cttctccttg atggtgagct ccttcgggat gagactggtg tcccaggatc
     4201 tgcaggtccc cagaagctgc cacataggag acacatggtg aacagtgagc aggcggctga
     4261 gctgtgagag cctagctctg gaaagcagct gatggggtgg tctccaccct ggttcataag
     4321 aggctaatgc agagtcacag tcagcccatc ctgggggaag aagaaacaag tgagcctcag
     4381 caccaccctc catccctgcc caaccaaact gaagtgaagg ctgctcatct gggttcattt
     4441 tctaaaatta aaaacaatta attttattct actaatagga tcaacatgac tttaactgtt
     4501 tgaagtgatc attggcgtgt gtgtgtgtgc ataaattttt agtgacataa aactttatta
     4561 aaagactcat accataataa agaatttcaa taagaaaaa
//
