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    VWA3B von Willebrand factor A domain containing 3B [ Homo sapiens (human) ]

    Gene ID: 200403, updated on 17-Jun-2019

    Summary

    Official Symbol
    VWA3Bprovided by HGNC
    Official Full Name
    von Willebrand factor A domain containing 3Bprovided by HGNC
    Primary source
    HGNC:HGNC:28385
    See related
    Ensembl:ENSG00000168658 MIM:614884
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SCAR22
    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]
    Expression
    Restricted expression toward testis (RPKM 15.5) See more
    Orthologs

    Genomic context

    See VWA3B in Genome Data Viewer
    Location:
    2q11.2
    Exon count:
    36
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (98087132..98330682)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (98703595..98929410)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MIR2 retrotransposon enhancer-blocking element Neighboring gene uncharacterized LOC105373501 Neighboring gene ATP synthase F1 subunit beta pseudogene 1 Neighboring gene cyclic nucleotide gated channel subunit alpha 3 Neighboring gene inositol polyphosphate-4-phosphatase type I A

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ32686, MGC26733

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    von Willebrand factor A domain-containing protein 3B
    Names
    VWA domain-containing protein 3B

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_054753.1 RefSeqGene

      Range
      5001..230816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001345864.2NP_001332793.1  von Willebrand factor A domain-containing protein 3B isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AC092675, AC112788, AK295743, AL834385
      UniProtKB/Swiss-Prot
      Q502W6
      UniProtKB/TrEMBL
      B7Z3D8
    2. NM_144992.5NP_659429.4  von Willebrand factor A domain-containing protein 3B isoform 1

      See identical proteins and their annotated locations for NP_659429.4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC018691, AC092675, AL834385, BC095480, DB090320
      Consensus CDS
      CCDS42718.1
      UniProtKB/Swiss-Prot
      Q502W6
      Related
      ENSP00000417955.1, ENST00000477737.5
      Conserved Domains (3) summary
      cd00198
      Location:508659
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      pfam15057
      Location:10371161
      DUF4537; Domain of unknown function (DUF4537)
      cl00057
      Location:142293
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...

    RNA

    1. NR_144296.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains two alternate exons and lacks another alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC018691, AC092675, AC112788, AL832761, BX641313
      Related
      ENST00000432242.5
    2. NR_144297.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an alternate exon, contains another alternate exon, and differs in the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC018691, BC026091, BI463112
      Related
      ENST00000416277.5
    3. NR_144298.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks three alternate exons and differs in the 3' end compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC018691, AK057248, BI463112
      Related
      ENST00000448638.5

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      98087132..98330682
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510772.1XP_011509074.1  von Willebrand factor A domain-containing protein 3B isoform X4

      Conserved Domains (3) summary
      cd00198
      Location:508659
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl00057
      Location:142293
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl02573
      Location:10371115
      TUDOR; Tudor domains are found in many eukaryotic organisms and have been implicated in protein-protein interactions in which methylated protein substrates bind to these domains. For example, the Tudor domain of Survival of Motor Neuron (SMN) binds to ...
    2. XM_011510770.1XP_011509072.1  von Willebrand factor A domain-containing protein 3B isoform X2

      Conserved Domains (3) summary
      cd00198
      Location:508659
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      pfam15057
      Location:10201144
      DUF4537; Domain of unknown function (DUF4537)
      cl00057
      Location:142293
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    3. XM_005263897.2XP_005263954.1  von Willebrand factor A domain-containing protein 3B isoform X1

      UniProtKB/Swiss-Prot
      Q502W6
      Conserved Domains (3) summary
      cd00198
      Location:508659
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      pfam15057
      Location:10371161
      DUF4537; Domain of unknown function (DUF4537)
      cl00057
      Location:142293
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    4. XM_011510771.2XP_011509073.1  von Willebrand factor A domain-containing protein 3B isoform X3

      Conserved Domains (3) summary
      cd00198
      Location:466617
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      pfam15057
      Location:9951119
      DUF4537; Domain of unknown function (DUF4537)
      cl00057
      Location:142293
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    5. XM_006712357.2XP_006712420.1  von Willebrand factor A domain-containing protein 3B isoform X5

      Conserved Domains (2) summary
      cd00198
      Location:358509
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      pfam15057
      Location:8871011
      DUF4537; Domain of unknown function (DUF4537)
    6. XM_017003564.1XP_016859053.1  von Willebrand factor A domain-containing protein 3B isoform X7

    7. XM_011510774.1XP_011509076.1  von Willebrand factor A domain-containing protein 3B isoform X8

      Conserved Domains (2) summary
      cd00198
      Location:508659
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl00057
      Location:142293
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    8. XM_011510775.2XP_011509077.1  von Willebrand factor A domain-containing protein 3B isoform X10

      Related
      ENSP00000388158.1, ENST00000433678.5
      Conserved Domains (2) summary
      cd00198
      Location:508612
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      cl00057
      Location:142293
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
    9. XM_024452744.1XP_024308512.1  von Willebrand factor A domain-containing protein 3B isoform X6

      Conserved Domains (2) summary
      cd00198
      Location:165316
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      pfam15057
      Location:694818
      DUF4537; Domain of unknown function (DUF4537)
    10. XM_017003561.1XP_016859050.1  von Willebrand factor A domain-containing protein 3B isoform X6

      Conserved Domains (2) summary
      cd00198
      Location:165316
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      pfam15057
      Location:694818
      DUF4537; Domain of unknown function (DUF4537)
    11. XM_017003562.1XP_016859051.1  von Willebrand factor A domain-containing protein 3B isoform X6

      Conserved Domains (2) summary
      cd00198
      Location:165316
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      pfam15057
      Location:694818
      DUF4537; Domain of unknown function (DUF4537)
    12. XM_006712359.3XP_006712422.1  von Willebrand factor A domain-containing protein 3B isoform X9

      Related
      ENSP00000436153.1, ENST00000473149.5
      Conserved Domains (2) summary
      cd00198
      Location:27178
      vWFA; Von Willebrand factor type A (vWA) domain was originally found in the blood coagulation protein von Willebrand factor (vWF). Typically, the vWA domain is made up of approximately 200 amino acid residues folded into a classic a/b para-rossmann type of ...
      pfam15057
      Location:556680
      DUF4537; Domain of unknown function (DUF4537)

    RNA

    1. XR_922885.3 RNA Sequence

    2. XR_922884.1 RNA Sequence

    3. XR_922887.1 RNA Sequence

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