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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
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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)

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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