Human Gene VWA8 (uc001uyj.3) Description and Page Index
  Description: Homo sapiens von Willebrand factor A domain containing 8 (VWA8), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr13:42,140,961-42,535,221 Size: 394,261 Total Exon Count: 45 Strand: -
Coding Region
   Position: hg19 chr13:42,142,333-42,535,151 Size: 392,819 Coding Exon Count: 45 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr13:42,140,961-42,535,221)mRNA (may differ from genome)Protein (1905 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=von Willebrand factor A domain-containing protein 8; Flags: Precursor;
SUBCELLULAR LOCATION: Secreted (Potential).
SIMILARITY: Contains 1 VWFA domain.

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 7.38 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 184.25 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.4070-0.349 Picture PostScript Text
3' UTR -310.811372-0.227 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003593 - AAA+_ATPase
IPR011704 - ATPase_dyneun-rel_AAA
IPR002035 - VWF_A

Pfam Domains:
PF07728 - AAA domain (dynein-related subfamily)

SCOP Domains:
52540 - P-loop containing nucleoside triphosphate hydrolases
53300 - vWA-like

ModBase Predicted Comparative 3D Structure on A3KMH1
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  Protein SequenceProtein SequenceProtein Sequence 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005524 ATP binding
GO:0016887 ATPase activity

Cellular Component:
GO:0005739 mitochondrion

-  Descriptions from all associated GenBank mRNAs
  AB011136 - Homo sapiens mRNA for KIAA0564 protein, partial cds.
BC131802 - Homo sapiens KIAA0564, mRNA (cDNA clone IMAGE:40083464), partial cds.
AB590583 - Synthetic construct DNA, clone: pFN21AA0564, Homo sapiens KIAA0564 gene for KIAA0564, without stop codon, in Flexi system.
BC053674 - Homo sapiens KIAA0564, mRNA (cDNA clone MGC:61659 IMAGE:6171968), complete cds.
AK095155 - Homo sapiens cDNA FLJ37836 fis, clone BRSSN2010587, weakly similar to Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.
AL834181 - Homo sapiens mRNA; cDNA DKFZp761B0924 (from clone DKFZp761B0924).
AK025432 - Homo sapiens cDNA: FLJ21779 fis, clone HEP00210.
JD298938 - Sequence 279962 from Patent EP1572962.
JD359165 - Sequence 340189 from Patent EP1572962.
JD091690 - Sequence 72714 from Patent EP1572962.
JD079299 - Sequence 60323 from Patent EP1572962.
JD360169 - Sequence 341193 from Patent EP1572962.
JD050427 - Sequence 31451 from Patent EP1572962.
JD510023 - Sequence 491047 from Patent EP1572962.
JD318671 - Sequence 299695 from Patent EP1572962.
AK308568 - Homo sapiens cDNA, FLJ98609.
JD431935 - Sequence 412959 from Patent EP1572962.
JD067110 - Sequence 48134 from Patent EP1572962.
JD245181 - Sequence 226205 from Patent EP1572962.
JD469260 - Sequence 450284 from Patent EP1572962.
JD357029 - Sequence 338053 from Patent EP1572962.
JD284046 - Sequence 265070 from Patent EP1572962.
JD495661 - Sequence 476685 from Patent EP1572962.
JD087674 - Sequence 68698 from Patent EP1572962.
JD511272 - Sequence 492296 from Patent EP1572962.
JD087806 - Sequence 68830 from Patent EP1572962.
JD288339 - Sequence 269363 from Patent EP1572962.
HZ409618 - JP 2015528002-A/2215: CHIRAL CONTROL.
LG052952 - KR 1020150036642-A/2218: CHIRAL CONTROL.
LP835217 - Sequence 15 from Patent WO2017108535.
LP939524 - Sequence 15 from Patent EP3184646.
BC042924 - Homo sapiens KIAA0564, mRNA (cDNA clone IMAGE:5215406), partial cds.

-  Other Names for This Gene
  Alternate Gene Symbols: A3KMH1, KIAA0564, NM_015058, NP_055873, O60310, Q5JTP6, Q5VW08, Q7Z6I9, Q86YC9, Q8N3E4, VWA8_HUMAN
UCSC ID: uc001uyj.3
RefSeq Accession: NM_015058
Protein: A3KMH1 (aka VWA8_HUMAN)
CCDS: CCDS41881.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_015058.1
exon count: 45CDS single in 3' UTR: no RNA size: 7169
ORF size: 5718CDS single in intron: no Alignment % ID: 99.99
txCdsPredict score: 11558.00frame shift in genome: no % Coverage: 99.87
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.