LOCUS       NM_144992               5064 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens von Willebrand factor A domain containing 3B (VWA3B),
            transcript variant 1, mRNA.
ACCESSION   NM_144992
VERSION     NM_144992.5
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 5064)
  AUTHORS   Kawarai,T., Tajima,A., Kuroda,Y., Saji,N., Orlacchio,A.,
            Terasawa,H., Shimizu,H., Kita,Y., Izumi,Y., Mitsui,T., Imoto,I. and
            Kaji,R.
  TITLE     A homozygous mutation of VWA3B causes cerebellar ataxia with
            intellectual disability
  JOURNAL   J Neurol Neurosurg Psychiatry 87 (6), 656-662 (2016)
   PUBMED   26157035
  REMARK    GeneRIF: Mutated VWA3B was found to be likely associated with
            cerebellar degeneration with intellectual disability. Although a
            rare cause of cerebellar degeneration, these findings indicate a
            critical role for VWA3B in the apoptosis pathway in neuronal
            tissues.
REFERENCE   2  (bases 1 to 5064)
  AUTHORS   Perlman,S.
  TITLE     Hereditary Ataxia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301317
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC018691.10, DB090320.1,
            BC095480.1, AL834385.1 and AC092675.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_144992.4.
            
            Summary: This gene encodes an intracellular protein that contains a
            von Willebrand factor type A domain. Intracellular proteins with
            VWA domains are thought to function in transcription, DNA repair,
            ribosomal and membrane transport and the proteasome. Mutations in
            this gene are associated with Spinocerebellar ataxia, autosomal
            recessive 22. Alternatively spliced transcript variants have been
            found for this gene. [provided by RefSeq, May 2017].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC150653.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000477737.6/ ENSP00000417955.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-23                AC018691.10        129166-129188       c
            24-571              DB090320.1         23-570
            572-2065            BC095480.1         562-2055
            2066-3962           AL834385.1         364-2260
            3963-3964           AC092675.2         50355-50356
            3965-4511           AC092675.2         50524-51070
            4512-4712           AL834385.1         2810-3010
            4713-5064           AC092675.2         51272-51623
FEATURES             Location/Qualifiers
     source          1..5064
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..5064
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /note="von Willebrand factor A domain containing 3B"
                     /db_xref="GeneID:200403"
                     /db_xref="HGNC:HGNC:28385"
                     /db_xref="MIM:614884"
     exon            1..197
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            198..425
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     CDS             230..4114
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /note="isoform 1 is encoded by transcript variant 1; von
                     Willebrand factor A domain-containing protein 3B; VWA
                     domain-containing protein 3B"
                     /codon_start=1
                     /product="von Willebrand factor A domain-containing
                     protein 3B isoform 1"
                     /protein_id="NP_659429.4"
                     /db_xref="CCDS:CCDS42718.1"
                     /db_xref="GeneID:200403"
                     /db_xref="HGNC:HGNC:28385"
                     /db_xref="MIM:614884"
                     /translation="MEKSGPSSTISEQQLQRQEGWINTKTDLAEQSLISSEKWLQLHG
                     LKSNKLTLKQILSQIGFPHCEDYVASLGRPVASRYADGLFPQLYRAEDGRVYNLTAKS
                     ELIYQFVEHLTQAVESYKQRMDWLTSKSRQIFGVILEQCVTIVLDFGGILEGELDLCR
                     EALTMVLQEQVAHITEFNIIRVSQEPVKWQENATPVTEQSIATAISWVEKLTVELTVS
                     EAGRLDALLEAGRDKTIESIYYFVVGDVPEESKELLLQRALEIPCPVYTVSFNARGEG
                     TIAFLKDLSAKTHSRFHAFAERTECVEFPAFSTKDGDNVMTWNSRKLKGKLPPGAGVR
                     EDVFLVWQEMEEACSTLAQIQRLVAEPPKPDVATVDCESETTSVEIASNPEDTWDSKT
                     WLQKYGLKAQKLSLYDVLADCSFRHADGVVDIKAKPENESVQTSAETNKKTVHAKYCS
                     RFVHAPWKDGSLVHVNITKEKCKWYSERIHTALARIRRRIKWLQDGSQSLFGRLHNDC
                     IYILIDTSHSMKSKLDLVKDKIIQFIQEQLKYKSKFNFVKFDGQAVAWREQLAEVNED
                     NLEQAQSWIRDIKIGSSTNTLSALKTAFADKETQAIYLLTDGRPDQPPETVIDQVKRF
                     QEIPIYTISFNYNDEIANRFLKEVAALTGGEFHFYNFGCKDPTPPEAVQNEDLTLLVK
                     EMEQGHSDLEKMQDLYSESLIMDWWYNAEKDGDSKHQKEICSMISTPEKCAKPQSDVD
                     STQTSSLNMLKGPWGLSDQKVQKKKVLHAESTKTSLLRSQMSSLRSSACSERKDGLSN
                     ASSRRTALSDKEMSILLAEEWLDDKSSEKVTREGSQVYDHDSSDVSSENWLKTYGLVA
                     KKLTLMDALSVAAVPHSSTYVPVLDKHVVSKVFDEVFPLAHVCNDTNKMTLINPQGAK
                     LNIYKRKVEQAIQSYEKRLNKIVWRALSQEEKEKLDANKPIQYLENKTVLNQALERLN
                     WPISLKELSMLESEILAGKMYIQQAMELQEAAKKNYANKAPGEQQKLQGNPTKKTKSK
                     RPDPLKGQKVIARCDENGFYFPGVVKKCVSRTQALVGFSYGDTKVVSTSFITPVGGAM
                     PCPLLQVGDYVFAKIVIPKGFDFYVPAIVIALPNKHVATEKFYTVLKCNNRREFCPRS
                     ALIKISQNKYALSCSHIKSPPIPEDPEVEDVEARNSAFLFWPLKEADTQDSREPRREK
                     PRRKKRPAKQPLQQAAPSDSDGSSHGISSHGSCQGTHPEPRTAHLHFPAAGRLGLSSH
                     AIIATPPPRAALPCTLQATHSSKGLRSVPETL"
     exon            426..520
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            521..771
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            772..931
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1101
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..1217
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            1218..1343
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            1344..1540
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            1541..1695
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            1696..1834
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            1835..1966
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            1967..2065
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            2066..2248
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            2249..2379
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            2380..2537
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            2538..2657
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            2658..2745
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            2746..2902
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            2903..3021
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            3022..3072
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            3073..3274
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            3275..3386
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            3387..3511
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            3512..3649
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            3650..3750
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            3751..3964
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     exon            3965..5064
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4677..4682
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /note="hexamer: AATAAA"
     polyA_site      4709
                     /gene="VWA3B"
                     /gene_synonym="SCAR22"
                     /note="major polyA site"
ORIGIN      
        1 agaggcgcgg gtcacagaga cctagaacag ctggaatcct tcgcccccgg cgcgcagcct
       61 tcgcccgccg gaatcgctgc cttatccacc agcgggatgc ttacctcgcc cgccctctcg
      121 ggtcaggcgg gcccgggagg atgggagggt ggctgctgag cgggagccgc cacgtcttcc
      181 acccgacata ttgcctagag tttgctgtga cttagatctt gattcagaga tggagaaatc
      241 aggcccatct tctaccatct ctgagcagca gctgcagagg caagagggat ggattaacac
      301 caaaacagac ttggctgagc agagtctcat ttcatctgag aaatggcttc aactgcatgg
      361 gcttaagagc aacaaattga ccttgaaaca gattttgtca cagatcggat tcccacattg
      421 tgaagattat gtggcgtctc tggggagacc tgtggcttct cggtatgctg atggtctgtt
      481 tccacagctc tacagagcag aagatggcag agtatacaat ctgacagcta aatcagaact
      541 gatttatcag tttgtggaac atttaacaca agctgtggag agctacaagc agcgaatgga
      601 ctggctcacc agcaagagcc ggcagatttt tggtgtcatc ttggaacagt gcgtcaccat
      661 agtgctggat tttggcggca ttctggaggg ggagcttgat ctgtgccgag aggctctaac
      721 aatggttctc caggagcagg tggctcacat aaccgagttc aatatcatac gggtttctca
      781 agagcctgtg aagtggcagg aaaatgctac tcctgtgacc gaacagtcca tagctactgc
      841 catcagttgg gttgagaaac tgacggttga gctgactgtg agcgaggctg gccgcctgga
      901 tgctctgctg gaagccggga gagacaagac tattgaatcc atttactact ttgtggtggg
      961 ggatgttcct gaagaatcca aggagcttct cctccagagg gccttggaga tcccgtgtcc
     1021 agtctacaca gtgtccttca acgccagagg agaaggcact atagcttttc taaaggatct
     1081 gagtgccaag acccacagca gattccacgc atttgccgag agaacagagt gtgtagaatt
     1141 tcctgcattc tccacaaagg atggtgacaa tgtgatgact tggaattcaa ggaaactgaa
     1201 aggaaaactc cctccaggag ctggagtcag agaggacgtg tttctcgttt ggcaagagat
     1261 ggaggaagcc tgcagcacgc tggcccagat ccagaggctg gtggccgagc ctcccaagcc
     1321 cgacgtggcc actgtggact gcgagtcaga aacaacctct gttgagattg catcgaatcc
     1381 agaagacacc tgggactcta agacatggct gcagaaatat ggcttgaagg cccagaagct
     1441 atccttgtat gatgtgcttg ccgactgctc tttccgccac gctgatgggg ttgtggatat
     1501 aaaagccaaa ccggagaatg agtccgtgca gaccagtgcg gagacgaaca agaagacagt
     1561 ccatgcaaaa tattgcagca ggtttgtcca tgctccctgg aaggatggga gcttggtcca
     1621 cgtcaacatt accaaagaga agtgcaagtg gtacagtgag agaatccaca cagccctggc
     1681 ccggatccga aggaggatta aatggctaca ggatgggagt caaagcctct ttggaagatt
     1741 gcataatgat tgcatctaca ttctcattga cacgtctcac tcaatgaaga gcaaactgga
     1801 cttggtgaag gacaagatca ttcagttcat acaggaacag ctgaaatata aaagtaagtt
     1861 taactttgtg aagtttgatg gtcaagcagt tgcttggcgg gaacaacttg ctgaagtcaa
     1921 tgaagataat ttggaacagg ctcagtcctg gattagagac ataaagattg gaagctccac
     1981 aaacaccctg agtgccctga aaactgcttt tgctgataaa gaaacacagg caatctacct
     2041 tctgaccgat gggagacctg atcagccacc tgaaacagtt atagaccagg tcaaacgttt
     2101 tcaggaaatt cctatttata ccatctcctt caattacaat gatgagattg caaacaggtt
     2161 tttgaaagag gttgctgctt tgactggagg agagttccat ttttataatt ttggttgcaa
     2221 ggatcccact cccccagagg ctgttcagaa tgaagatctg actcttttag ttaaggaaat
     2281 ggaacagggt cacagtgatc tggagaagat gcaagacctt tattctgagt ccttgatcat
     2341 ggactggtgg tacaatgcag aaaaggatgg agacagcaag catcaaaagg aaatctgttc
     2401 tatgatttca accccagaaa agtgtgcaaa gcctcaatct gatgtcgatt caacacaaac
     2461 ttcatctctg aatatgttga agggaccatg gggcctttca gatcaaaagg ttcagaaaaa
     2521 gaaagtcctt cacgcagaat caaccaaaac cagcctgctc agaagccaga tgtcctccct
     2581 caggagctca gcttgcagtg aaaggaagga tggcctctcc aatgccagca gccggaggac
     2641 tgctctaagt gacaaagaaa tgagcatctt gctggctgag gagtggctgg atgacaaatc
     2701 gtcagaaaag gtgacgcgag aaggaagcca ggtttatgac cacgattctt cagatgtgtc
     2761 ttcagaaaac tggctgaaga cctatggctt ggtcgccaag aaactcaccc tcatggatgc
     2821 cttgtcagtg gcagcagtcc cgcacagctc cacctatgtt cccgtcctgg acaagcatgt
     2881 cgtgtctaag gtctttgatg aggtgttccc tctggcacat gtgtgcaacg acacaaataa
     2941 gatgacatta attaaccccc aaggagccaa actcaatatc tacaagcgaa aagtggaaca
     3001 ggcaattcaa tcctatgaaa agcgcttgaa taaaattgtt tggcgagcat tatctcaaga
     3061 ggaaaaagaa aagttagatg caaacaaacc aatacagtac ttggaaaaca aaacagtttt
     3121 aaaccaggct ttagaacggt tgaattggcc catttcactg aaagagctgt cgatgctgga
     3181 aagtgaaatc ctagctggga aaatgtacat ccagcaggcc atggaactcc aggaggctgc
     3241 caagaagaat tatgcaaaca aggccccggg agagcaacag aaattgcaag gaaatccaac
     3301 aaagaaaacc aaatcaaaaa gaccagatcc cctcaaagga cagaaggtta ttgcaagatg
     3361 tgatgaaaat ggcttttatt ttccaggggt tgtgaagaag tgtgtgagcc gcacccaagc
     3421 actggtgggc ttcagttacg gagacaccaa ggtcgtgtcc acctccttca tcacgcctgt
     3481 ggggggcgcc atgccctgcc cgctgctcca ggttggagat tatgtgtttg ccaaaattgt
     3541 gatacccaaa ggatttgact tctatgtccc tgccattgtc atagcacttc ccaataagca
     3601 tgtggccaca gaaaaattct acacagtttt gaagtgtaac aaccggagag aattttgccc
     3661 tcggagtgca cttattaaga tcagccaaaa caagtatgcg ctctcttgct ctcatataaa
     3721 gtcaccccca attcctgagg atccagaagt agaggatgtg gaggcgagga actctgcttt
     3781 cctcttctgg ccactgaaag aagcggacac gcaggattcc agagagccaa gacgagagaa
     3841 gcccaggagg aaaaagaggc ccgccaagca gccactccag caggcggcgc cctcggactc
     3901 ggacggctcc tcccacggca tcagctccca tgggtcctgc caggggacac accccgagcc
     3961 caggacagcc cacctccact tccccgcggc cgggcgtcta ggactcagca gccacgccat
     4021 cattgccaca cctccacctc gagcagccct gccctgtact ctccaagcca cccacagcag
     4081 caaagggctg aggagcgtcc ctgagacact ttaaggccgt ctggtggcag ctatgtttaa
     4141 gagaccagcg tccttccagg ctgttcagac ctcagcgttg acactgaaac tggcccctcc
     4201 gcggaggtaa ggccgccctc cgcgccgcct atgcctgccc tgtctgtagc aaagactcct
     4261 ctcccctcca tccctgctgc ctcccctacc cgtttgacga cttggttctg gctttttctg
     4321 actgttcttt atcctgtttt ccccctgcac tcacaaaatt gtattccatc ttctggtaga
     4381 cgccccaccc ccagaagttt taacctgaag gatgactgtc acaggacttt caaattgttt
     4441 agcagtcagc atagtcagga tccaagcccg caatcttgtt ttaaattaat tatcacatct
     4501 aaattagaga atttgtcacc caatattagg actgaaattc agactcggta acttgtctga
     4561 gatctgcaag actgaacatc ccctactgta tagtttcctg acattttcat ttagcctttc
     4621 ctaattattt ttgtctatag tctgttgtag gtaactctaa ttgagcccga aaccagaata
     4681 aaaactctta cattggaaac atttcaaaac cattggattg ttggattatt tgttaccatt
     4741 tttctctgaa cacattttag caatgacata tgaaagtatt cagttgtgtt tactaacttc
     4801 aaaaatgaaa tcgctccatc aaatttcgtt tttctagtcg gtaagatccc tgaggctaga
     4861 tgaaaataga gcacaggtca tcactaggga aaatattgga tgctttttgc aaacagaaca
     4921 gatagggctg agttctgata ctctaaaaat ttacaatcta attaaaagtg gcattcacat
     4981 tcctgaaagc taggagtagc cagggttatg gtgaagaaat taaagaacta atccacttct
     5041 aaaaatatga aaaaaaaaaa ataa
//
