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    VWA3A von Willebrand factor A domain containing 3A [ Homo sapiens (human) ]

    Gene ID: 146177, updated on 2-Nov-2024

    Summary

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    Official Symbol
    VWA3Aprovided by HGNC
    Official Full Name
    von Willebrand factor A domain containing 3Aprovided by HGNC
    Primary source
    HGNC:HGNC:27088
    See related
    Ensembl:ENSG00000175267 AllianceGenome:HGNC:27088
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in lung (RPKM 3.4), testis (RPKM 1.7) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See VWA3A in Genome Data Viewer
    Location:
    16p12.2
    Exon count:
    38
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (22092541..22156964)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (22060249..22125572, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (22103862..22168285)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene modulator of smoothened Neighboring gene uncharacterized LOC124903665 Neighboring gene Sharpr-MPRA regulatory region 14412 Neighboring gene uncharacterized LOC105371129 Neighboring gene short chain dehydrogenase/reductase family 42E, member 2 Neighboring gene uncharacterized LOC124903666 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:22196551-22197050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:22201633-22202132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10567 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10568 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10569 Neighboring gene tRNA-Leu (anticodon TAG) 3-1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Association of a Variant in VWA3A with Response to Anti-Vascular Endothelial Growth Factor Treatment in Neovascular AMD. Grunin M, et al. Invest Ophthalmol Vis Sci, 2020 Feb 7. PMID 32106291, Free PMC Article
    2. The sequence of the human genome. Venter JC, et al. Science, 2001 Feb 16. PMID 11181995
    3. Estrogen-regulated feedback loop limits the efficacy of estrogen receptor-targeted breast cancer therapy. Xiao T, et al. Proc Natl Acad Sci U S A, 2018 Jul 31. PMID 29987050, Free PMC Article
    4. Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein-protein interactions in the human cell. Bartolec TK, et al. Proc Natl Acad Sci U S A, 2023 Apr 25. PMID 37071682, Free PMC Article
    5. Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy. Sun X, et al. Acta Pharm Sin B, 2022 Feb. PMID 35256949, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40941, FLJ46765

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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

    NCBI Reference Sequences (RefSeq)

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    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_034015.1 RefSeqGene

      Range
      5004..69427
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_173615.5 → NP_775886.3  von Willebrand factor A domain-containing protein 3A precursor

      See identical proteins and their annotated locations for NP_775886.3

      Status: VALIDATED

      Source sequence(s)
      AC009019, AK307544, BC038400, BC109295, DA102773, DA240074
      Consensus CDS
      CCDS45441.1
      UniProtKB/Swiss-Prot
      A4QMU8, A6NCI4, A6NNC0, Q6UTX4, Q6ZQZ9, Q8IUY6, Q8N9W1
      Related
      ENSP00000374049.5, ENST00000389398.10
      Conserved Domains (2) summary
      pfam13768
      Location:169 → 324
      VWA_3; von Willebrand factor type A domain
      cl00057
      Location:963 → 1109
      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 ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      22092541..22156964
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011545742.4 → XP_011544044.1  von Willebrand factor A domain-containing protein 3A isoform X1

      See identical proteins and their annotated locations for XP_011544044.1

      Conserved Domains (2) summary
      pfam13768
      Location:187 → 342
      VWA_3; von Willebrand factor type A domain
      cl00057
      Location:1026 → 1172
      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 ...

    2. XM_047433634.1 → XP_047289590.1  von Willebrand factor A domain-containing protein 3A isoform X8

    3. XM_047433630.1 → XP_047289586.1  von Willebrand factor A domain-containing protein 3A isoform X4

    4. XM_047433633.1 → XP_047289589.1  von Willebrand factor A domain-containing protein 3A isoform X7

    5. XM_047433629.1 → XP_047289585.1  von Willebrand factor A domain-containing protein 3A isoform X3

    6. XM_047433632.1 → XP_047289588.1  von Willebrand factor A domain-containing protein 3A isoform X6

    7. XM_047433627.1 → XP_047289583.1  von Willebrand factor A domain-containing protein 3A isoform X2

    8. XM_047433631.1 → XP_047289587.1  von Willebrand factor A domain-containing protein 3A isoform X5

    9. XM_047433635.1 → XP_047289591.1  von Willebrand factor A domain-containing protein 3A isoform X9

    10. XM_047433636.1 → XP_047289592.1  von Willebrand factor A domain-containing protein 3A isoform X10

      Related
      ENSP00000457770.1, ENST00000568328.5

    11. XM_011545744.3 → XP_011544046.1  von Willebrand factor A domain-containing protein 3A isoform X11

      Conserved Domains (1) summary
      cl00057
      Location:530 → 676
      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 ...

    12. XM_011545746.3 → XP_011544048.1  von Willebrand factor A domain-containing protein 3A isoform X13

      Conserved Domains (1) summary
      cl00057
      Location:487 → 633
      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 ...

    13. XM_011545745.2 → XP_011544047.1  von Willebrand factor A domain-containing protein 3A isoform X12

      Conserved Domains (1) summary
      cl00057
      Location:502 → 648
      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 ...

    14. XM_047433637.1 → XP_047289593.1  von Willebrand factor A domain-containing protein 3A isoform X14

    RNA

    1. XR_007064857.1 RNA Sequence

    2. XR_007064856.1 RNA Sequence

    3. XR_007064855.1 RNA Sequence

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017852933.1 Reference GRCh38.p14 PATCHES

      Range
      948074..1013420 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332140.1 → XP_054188115.1  von Willebrand factor A domain-containing protein 3A isoform X1

    2. XM_054332141.1 → XP_054188116.1  von Willebrand factor A domain-containing protein 3A isoform X1

    3. XM_054332145.1 → XP_054188120.1  von Willebrand factor A domain-containing protein 3A isoform X13

    4. XM_054332142.1 → XP_054188117.1  von Willebrand factor A domain-containing protein 3A isoform X11

    5. XM_054332143.1 → XP_054188118.1  von Willebrand factor A domain-containing protein 3A isoform X11

    6. XM_054332144.1 → XP_054188119.1  von Willebrand factor A domain-containing protein 3A isoform X12

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      22060249..22125572 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379630.1 → XP_054235605.1  von Willebrand factor A domain-containing protein 3A isoform X1

    2. XM_054379631.1 → XP_054235606.1  von Willebrand factor A domain-containing protein 3A isoform X1

    3. XM_054379635.1 → XP_054235610.1  von Willebrand factor A domain-containing protein 3A isoform X13

    4. XM_054379632.1 → XP_054235607.1  von Willebrand factor A domain-containing protein 3A isoform X11

    5. XM_054379633.1 → XP_054235608.1  von Willebrand factor A domain-containing protein 3A isoform X11

    6. XM_054379634.1 → XP_054235609.1  von Willebrand factor A domain-containing protein 3A isoform X12

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_175059.2: Suppressed sequence

      Description
      NM_175059.2: This RefSeq was suppressed temporarily based on the calculation that the annotated protein was shorter than a protein or proteins from a putative ortholog.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NCI4.3 GenPept UniProtKB/Swiss-Prot:A6NCI4

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