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

Gene ID: 200403, updated on 18-Aug-2020

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:
37
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (98087167..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

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
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
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
    5036..231168
    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, ENST00000477737.6
    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_144296.2 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
    Related
    ENST00000432242.5
  2. NR_144297.2 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_144298.2 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 Updated Annotation Release 109.20200815

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
    98087167..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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