LOCUS       NM_022834               4492 bp    mRNA    linear   PRI 04-APR-2024
DEFINITION  Homo sapiens von Willebrand factor A domain containing 1 (VWA1),
            transcript variant 1, mRNA.
ACCESSION   NM_022834
VERSION     NM_022834.5
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 4492)
  AUTHORS   Deschauer,M., Hengel,H., Rupprich,K., Kreiss,M.,
            Schlotter-Weigel,B., Grimmel,M., Admard,J., Schneider,I.,
            Alhaddad,B., Gazou,A., Sturm,M., Vorgerd,M., Balousha,G.,
            Balousha,O., Falna,M., Kirschke,J.S., Kornblum,C., Jordan,B.,
            Kraya,T., Strom,T.M., Weis,J., Schols,L., Schara,U., Zierz,S.,
            Riess,O., Meitinger,T. and Haack,T.B.
  TITLE     Bi-allelic truncating mutations in VWA1 cause neuromyopathy
  JOURNAL   Brain 144 (2), 574-583 (2021)
   PUBMED   33459760
  REMARK    GeneRIF: Bi-allelic truncating mutations in VWA1 cause
            neuromyopathy.
REFERENCE   2  (bases 1 to 4492)
  AUTHORS   Ragelle,H., Naba,A., Larson,B.L., Zhou,F., Prijic,M.,
            Whittaker,C.A., Del Rosario,A., Langer,R., Hynes,R.O. and
            Anderson,D.G.
  TITLE     Comprehensive proteomic characterization of stem cell-derived
            extracellular matrices
  JOURNAL   Biomaterials 128, 147-159 (2017)
   PUBMED   28327460
REFERENCE   3  (bases 1 to 4492)
  AUTHORS   Barallobre-Barreiro,J., Oklu,R., Lynch,M., Fava,M., Baig,F.,
            Yin,X., Barwari,T., Potier,D.N., Albadawi,H., Jahangiri,M.,
            Porter,K.E., Watkins,M.T., Misra,S., Stoughton,J. and Mayr,M.
  TITLE     Extracellular matrix remodelling in response to venous
            hypertension: proteomics of human varicose veins
  JOURNAL   Cardiovasc Res 110 (3), 419-430 (2016)
   PUBMED   27068509
REFERENCE   4  (bases 1 to 4492)
  AUTHORS   Ju,L., Chen,Y., Zhou,F., Lu,H., Cruz,M.A. and Zhu,C.
  TITLE     Von Willebrand factor-A1 domain binds platelet glycoprotein Ibalpha
            in multiple states with distinctive force-dependent dissociation
            kinetics
  JOURNAL   Thromb Res 136 (3), 606-612 (2015)
   PUBMED   26213126
  REMARK    GeneRIF: Our results reveal the molecular mechanism of
            collagen-regulated, A1-mediated platelet adhesion enhancement.
REFERENCE   5  (bases 1 to 4492)
  AUTHORS   Naba,A., Clauser,K.R., Whittaker,C.A., Carr,S.A., Tanabe,K.K. and
            Hynes,R.O.
  TITLE     Extracellular matrix signatures of human primary metastatic colon
            cancers and their metastases to liver
  JOURNAL   BMC Cancer 14, 518 (2014)
   PUBMED   25037231
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 4492)
  AUTHORS   Auton,M., Cruz,M.A. and Moake,J.
  TITLE     Conformational stability and domain unfolding of the Von Willebrand
            factor A domains
  JOURNAL   J Mol Biol 366 (3), 986-1000 (2007)
   PUBMED   17187823
  REMARK    GeneRIF: Urea was used as a surrogate for shear to study
            denaturation of the individual VWF recombinant A domains, A1, A2,
            and A3, and the domain triplet, A1-A2-A3.
REFERENCE   7  (bases 1 to 4492)
  AUTHORS   Palmer,D.J., Kelly,V.C., Smit,A.M., Kuy,S., Knight,C.G. and
            Cooper,G.J.
  TITLE     Human colostrum: identification of minor proteins in the aqueous
            phase by proteomics
  JOURNAL   Proteomics 6 (7), 2208-2216 (2006)
   PUBMED   16502470
REFERENCE   8  (bases 1 to 4492)
  AUTHORS   Allen,J.M., Bateman,J.F., Hansen,U., Wilson,R., Bruckner,P.,
            Owens,R.T., Sasaki,T., Timpl,R. and Fitzgerald,J.
  TITLE     WARP is a novel multimeric component of the chondrocyte
            pericellular matrix that interacts with perlecan
  JOURNAL   J Biol Chem 281 (11), 7341-7349 (2006)
   PUBMED   16407285
  REMARK    GeneRIF: WARP forms macromolecular structures that interact with
            perlecan to contribute to the assembly and/or maintenance of
            'permanent' cartilage structures during development and in mature
            cartilages
REFERENCE   9  (bases 1 to 4492)
  AUTHORS   Fitzgerald,J. and Bateman,J.F.
  TITLE     Is there an evolutionary relationship between WARP (von Willebrand
            factor A-domain-related protein) and the FACIT and FACIT-like
            collagens?
  JOURNAL   FEBS Lett 552 (2-3), 91-94 (2003)
   PUBMED   14527666
  REMARK    GeneRIF: Evolutionary relationship between von Willebrand factor A
            domain-related protein (WARP), and the fibril-associated collagen
            with interrupted triple helix (FACIT) and FACIT-like subfamilies of
            collagens.
REFERENCE   10 (bases 1 to 4492)
  AUTHORS   Fitzgerald,J., Tay Ting,S. and Bateman,J.F.
  TITLE     WARP is a new member of the von Willebrand factor A-domain
            superfamily of extracellular matrix proteins
  JOURNAL   FEBS Lett 517 (1-3), 61-66 (2002)
   PUBMED   12062410
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DB452905.1, BC059409.1, AL137722.1 and BG370349.1.
            
            On Nov 22, 2018 this sequence version replaced NM_022834.4.
            
            Summary: VWA1 belongs to the von Willebrand factor (VWF; MIM
            613160) A (VWFA) domain superfamily of extracellular matrix
            proteins and appears to play a role in cartilage structure and
            function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by
            OMIM, Nov 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: AK075366.1, BC059409.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000476993.2/ ENSP00000417185.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-26                DB452905.1         168-193
            27-1738             BC059409.1         1-1712
            1739-4488           AL137722.1         56-2805
            4489-4492           BG370349.1         4-7                 c
FEATURES             Location/Qualifiers
     source          1..4492
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p36.33"
     gene            1..4492
                     /gene="VWA1"
                     /gene_synonym="HMNMYO; HMNR7; WARP"
                     /note="von Willebrand factor A domain containing 1"
                     /db_xref="GeneID:64856"
                     /db_xref="HGNC:HGNC:30910"
                     /db_xref="MIM:611901"
     exon            1..132
                     /gene="VWA1"
                     /gene_synonym="HMNMYO; HMNR7; WARP"
                     /inference="alignment:Splign:2.1.0"
     CDS             60..1397
                     /gene="VWA1"
                     /gene_synonym="HMNMYO; HMNR7; WARP"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; von Willebrand factor A domain-containing
                     protein 1; von Willebrand factor A domain-related protein"
                     /codon_start=1
                     /product="von Willebrand factor A domain-containing
                     protein 1 isoform 1 precursor"
                     /protein_id="NP_073745.2"
                     /db_xref="CCDS:CCDS27.1"
                     /db_xref="GeneID:64856"
                     /db_xref="HGNC:HGNC:30910"
                     /db_xref="MIM:611901"
                     /translation="MLPWTALGLALSLRLALARSGAERGPPASAPRGDLMFLLDSSAS
                     VSHYEFSRVREFVGQLVAPLPLGTGALRASLVHVGSRPYTEFPFGQHSSGEAAQDAVR
                     ASAQRMGDTHTGLALVYAKEQLFAEASGARPGVPKVLVWVTDGGSSDPVGPPMQELKD
                     LGVTVFIVSTGRGNFLELSAAASAPAEKHLHFVDVDDLHIIVQELRGSILDAMRPQQL
                     HATEITSSGFRLAWPPLLTADSGYYVLELVPSAQPGAARRQQLPGNATDWIWAGLDPD
                     TDYDVALVPESNVRLLRPQILRVRTRPGEAGPGASGPESGAGPAPTQLAALPAPEEAG
                     PERIVISHARPRSLRVSWAPALGSAAALGYHVQFGPLRGGEAQRVEVPAGRNCTTLQG
                     LAPGTAYLVTVTAAFRSGRESALSAKACTPDGPRPRPRPVPRAPTPGTASREP"
     exon            133..690
                     /gene="VWA1"
                     /gene_synonym="HMNMYO; HMNR7; WARP"
                     /inference="alignment:Splign:2.1.0"
     exon            691..4492
                     /gene="VWA1"
                     /gene_synonym="HMNMYO; HMNR7; WARP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2356..2361
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VWA1"
                     /gene_synonym="HMNMYO; HMNR7; WARP"
                     /note="hexamer: AGTAAA"
     polyA_site      2376
                     /gene="VWA1"
                     /gene_synonym="HMNMYO; HMNR7; WARP"
                     /note="major polyA site"
     regulatory      4465..4470
                     /regulatory_class="polyA_signal_sequence"
                     /gene="VWA1"
                     /gene_synonym="HMNMYO; HMNR7; WARP"
                     /note="hexamer: AATAAA"
     polyA_site      4492
                     /gene="VWA1"
                     /gene_synonym="HMNMYO; HMNR7; WARP"
ORIGIN      
        1 agccccgagc gagcgagcga gcgagcgagt tgccgagcgc gccccgtccc tcgcgcgcga
       61 tgctcccctg gacggcgctc ggcctggccc tgagcttgcg gctggcgctg gcgcggagcg
      121 gcgcggagcg cggtccacca gcatcagccc cccgagggga cctgatgttc ctgctggaca
      181 gctcagccag cgtctctcac tacgagttct cccgggttcg ggagtttgtg gggcagctgg
      241 tggctccact gcccctgggc accggggccc tgcgtgccag tctggtgcac gtgggcagtc
      301 ggccatacac cgagttcccc ttcggccagc acagctcggg tgaggctgcc caggatgcgg
      361 tgcgtgcttc tgcccagcgc atgggtgaca cccacactgg cctggcgctg gtctatgcca
      421 aggaacagct gtttgctgaa gcatcaggtg cccggccagg ggtgcccaaa gtgctggtgt
      481 gggtgacaga tggcggctcc agcgaccctg tgggcccccc catgcaggag ctcaaggacc
      541 tgggcgtcac cgtgttcatt gtcagcaccg gccgaggcaa cttcctggag ctgtcagccg
      601 ctgcctcagc ccctgccgag aagcacctgc actttgtgga cgtggatgac ctgcacatca
      661 ttgtccaaga gctgaggggc tccattctcg acgcgatgcg gccgcagcag ctccatgcca
      721 cggagatcac gtccagcggc ttccgcctgg cctggccacc cctgctgacc gcagactcgg
      781 gctactatgt gctggagctg gtgcccagcg cccagccggg ggctgcaaga cgccagcagc
      841 tgccagggaa cgccacggac tggatctggg ccggcctcga cccggacacg gactacgacg
      901 tggcgctagt gcctgagtcc aacgtgcgcc tcctgaggcc ccagatcctg cgggtgcgca
      961 cgcggcccgg tgaggcaggg ccgggggctt cgggcccgga gtcgggggct gggccggccc
     1021 ccacgcagct cgccgccctc cccgccccag aggaggccgg gccagagcgc atcgtcatct
     1081 cccacgcccg gccgcgcagc ctccgcgtga gttgggcccc agcgctgggc tcagccgcgg
     1141 cgctcggcta ccacgtgcag ttcgggccgc tgcggggcgg ggaggcgcag cgggtggagg
     1201 tgcccgcggg ccgcaactgc accacgctgc agggcctggc gccgggcacc gcctacctgg
     1261 tgaccgtgac cgccgccttc cgctcgggcc gcgagagcgc gctgtccgcc aaggcctgca
     1321 cgcccgacgg cccgcgcccg cgcccacgcc ccgtgccccg cgccccgacc ccggggaccg
     1381 ccagccgtga gccgtaagcc ggcgtccccg cccagccgag agggccggcg cctacctgag
     1441 ggcccctgtg tcccgaaccc ggagcggagg cgcccaaccc ggcagacggg tgcaggcccg
     1501 gcctttcccc acgcggactc cgcgcgaccc cggccctctc cctgcggccg cagggcttcc
     1561 ccgcctggcg cctgccctcc agggctgggg cctcgcctgg cgggaccccg cagcagcccc
     1621 ggccccatcc ccgcccagag ccgggcgtcg tgtgggtccg tgggtgataa ttgagagcgt
     1681 cagacccagg actgttcagg gaggagcccc ggtcagactc ccacgtgtga agaccgggcc
     1741 ccaagtggca agggctggcc tggggcgggc agcttgggtc ctggacgttg ataggaagcg
     1801 gaaggggaat cgcgggaagc tggcccaggt caggtccgca aaggcttctg aagaagagga
     1861 agggcgagta ggggcacctg gacgctgatg gtggccagga tgctcagctg gccaggaggg
     1921 cagcacctgc tggggacggt ggccctgcct tcatgcccag gacaccagct gggtccagct
     1981 agcagccact gggaatcaga ggaatggggc agagctgggc attcaggacc ttgaggacac
     2041 gtgaccccac ccgcccaccg ccactatcag gccccgggac cgcactgaca ggaaaccttc
     2101 cgtcgtgagg gagcacttcc caggggccgc agggacgaca ctctccaggg aggccccagc
     2161 aaccacacca tcttcttgct gtgagaggtc tcaccccggg ctacctcctg tcactactca
     2221 ctgccctggg gtccgtgggc aagttgccca gggtgggggt gcctagccag gtgcagtccc
     2281 cgccccgcct agtcctcggc gtcacgcaat gctcacctcg cctcttcccc actaacatcc
     2341 cagactttaa aattcagtaa atcagatgta caccgagcct gcagtctcgc taggatgctt
     2401 tactcctcca caaacagcag ccgccgacag gacagcttgt gaacgtctcc gccttttggg
     2461 gtgtccgggg agaggaggtg gagctgtccc ctcccagtgt caggcctcct tggtcctcat
     2521 gtgcaccttt tattcagaga gcttgggccc ccttcctttg gagctgggcc cagggcaggt
     2581 ggctggaatg cagaggacaa gggggctggg gcctctgcag ggccattccc accgcagtct
     2641 ctgccacggc ccggagccct gggcccaggg ccacgcgggc tccctctgct ggcaaagcca
     2701 caccctgcac cgcatggggt ccactgcccc tttccccacg tggactctgc gtgaccccag
     2761 gaactgcagc attgaggtgg tctcagtccc tccctcaggt ctggtgggca ttgtgccagg
     2821 ggccaccttc gggacagctg gccttggcac cgtctcccaa gaacccagct ctgtgcatcc
     2881 cgtggcccca ccagaaaccc aaggccacac cgcccaccag ctgggtgtgg tcaccattca
     2941 tggagggccg gctggggcca ggctcaccac gcagagtttg ccctccggtg tgatgatgca
     3001 tgagacacag taggcccccc tgcctgtgtg tgcagggggt gtctgtgggg gggccctgct
     3061 ggctggactt tgggtttctc ctgagctccc cttagccccc aagtcaggcc acggaggcct
     3121 gagtaggacc catgggctgt gtgtgtcact gcaggtggcg tgctcacaac tgcactgctg
     3181 gtcggcaggt ggccagggtt gcaggcccgg gcctcgggcc ccacctcctc tggaggggta
     3241 ggatctcctt cgtgcagccc ctgcccccta ccctgttctc cggagtgttg gcagatctga
     3301 gcccacggtc acgtgagagg agatgcctct tgcacactga gcccaggccc agctcacgga
     3361 gcaccctgca ggtggcagcg gggcaccagg ggctcattcc tggtggcctc agtggcttct
     3421 gtggacgact cagactcaca tgagaagctg ggaggagctc cagctctgca atcccgagag
     3481 ggcagagcgg gggccctggc cacaaccctg ctccccacat acccgtctgg cagaggctct
     3541 gcctcccctc tgcccatctc tgcacaccaa ggctgagcac agcacaaggc ctcacggaga
     3601 gggtgaaaag gcactgccgt ctccatctca gtgccaagga atgccccttt cagaagccct
     3661 cgtctgagaa gtgctgcccc ttatgtagcc ccaggcattt taaaatcttt gaatctgcac
     3721 caagtctcag aacagctctg gccccggagt gctccgtcca ggccgctgtg aaccggctgt
     3781 ccccgcgtct cctccacctc ccctgacaca atcctggccc cgactcagtc cacccagggt
     3841 gcagtgcaga ggctgatacc cgccaggact tccttgccaa gggcccggcc acgtcacaag
     3901 gccactgcac gcttttcgac atgcacctgg aaatcgggaa gggccatgct gcagttgctt
     3961 ctagttgaga cgagaagagc gacaaggttg tgatccacgt ggcaggtgtt cagaaggctg
     4021 ggggcgggca gcgctgggga gagccctggg tacttcgagg agaccccgaa gggaggctgc
     4081 tcccacacct gcgccagttt ccaccctctc tgtgagcagg gctgcggtca cctcccacat
     4141 ctgaagagaa ccaacctgag gatttcacgc tggctgcgtg ccagaccagt ccctgacagg
     4201 ttgtgcgagg cccttcgctg gacagcccat tgctggccac tggacggaga ggcagagggg
     4261 gctgaaattc gggcccatgc ctctgtgagc gatgacggag caacagctct ccagcacgtg
     4321 aagctctcca gacagctgtt cgtgagaagc cagacagagg cctggggtct cagtccagat
     4381 ttctggggag tggggtgtcc aagcgtgggc cacgctgctg ggagccacct agggaagcag
     4441 gtcgcctgtt tctatagtga cggtaataaa ccaagtcaat tttctatagt ga
//
