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VWA8 von Willebrand factor A domain containing 8 [ Homo sapiens (human) ]

Gene ID: 23078, updated on 12-May-2016
Official Symbol
VWA8provided by HGNC
Official Full Name
von Willebrand factor A domain containing 8provided by HGNC
Primary source
HGNC:HGNC:29071
See related
Ensembl:ENSG00000102763 HPRD:17194; Vega:OTTHUMG00000016799
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
Also known as
KIAA0564
Orthologs
Location:
13q14.11
Exon count:
47
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 13 NC_000013.11 (41566825..41961103, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (42140961..42535221, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370174 Neighboring gene regulator of cell cycle Neighboring gene uncharacterized LOC105370175 Neighboring gene microRNA 5006 Neighboring gene lysyl-tRNA synthetase pseudogene 1 Neighboring gene uncharacterized LOC105370176 Neighboring gene VWA8 antisense RNA 1 (head to head) Neighboring gene ribosomal protein S28 pseudogene 8

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
NHGRI GWA Catalog
Genome-wide association study of ancestry-specific TB risk in the South African Coloured population.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ21779, KIAA0564

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATPase activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
extracellular region IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
von Willebrand factor A domain-containing protein 8

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.

mRNA and Protein(s)

  1. NM_001009814.1NP_001009814.1  von Willebrand factor A domain-containing protein 8 isoform b precursor

    See identical proteins and their annotated locations for NP_001009814.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting isoform (b) is shorter at the C-terminus compared to isoform a.
    Source sequence(s)
    BC053674
    Consensus CDS
    CCDS31963.1
    UniProtKB/Swiss-Prot
    A3KMH1
    Related
    ENSP00000281496, OTTHUMP00000018324, ENST00000281496, OTTHUMT00000044689
    Conserved Domains (2) summary
    cd00009
    Location:432545
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    pfam07728
    Location:105261
    AAA_5; AAA domain (dynein-related subfamily)
  2. NM_015058.1NP_055873.1  von Willebrand factor A domain-containing protein 8 isoform a precursor

    See identical proteins and their annotated locations for NP_055873.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AA648780, AB011136, BC053674
    Consensus CDS
    CCDS41881.1
    UniProtKB/Swiss-Prot
    A3KMH1
    Related
    ENSP00000368612, OTTHUMP00000214985, ENST00000379310, OTTHUMT00000354828
    Conserved Domains (3) summary
    cd00009
    Location:432545
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    cd01455
    Location:17131902
    vWA_F11C1-5a_type; 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 ...
    pfam07728
    Location:105261
    AAA_5; AAA domain (dynein-related subfamily)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p2 Primary Assembly

    Range
    41566825..41961103 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011535006.1XP_011533308.1  

    Conserved Domains (3) summary
    cd00009
    Location:336449
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    cd01455
    Location:16171806
    vWA_F11C1-5a_type; 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 ...
    pfam07728
    Location:9165
    AAA_5; AAA domain (dynein-related subfamily)
  2. XM_006719791.2XP_006719854.1  

    Conserved Domains (3) summary
    cd00009
    Location:77190
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    cd01455
    Location:13581547
    vWA_F11C1-5a_type; 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 ...
    pfam07728
    Location:421568
    AAA_5; AAA domain (dynein-related subfamily)
  3. XM_011535007.1XP_011533309.1  

    Conserved Domains (2) summary
    cd00009
    Location:432545
    AAA; The AAA+ (ATPases Associated with a wide variety of cellular Activities) superfamily represents an ancient group of ATPases belonging to the ASCE (for additional strand, catalytic E) division of the P-loop NTPase fold. The ASCE division also includes ABC, ...
    pfam07728
    Location:105261
    AAA_5; AAA domain (dynein-related subfamily)

Alternate CHM1_1.1

Genomic

  1. NC_018924.2 Alternate CHM1_1.1

    Range
    42108485..42502867 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)