Vwa8 von Willebrand factor A domain containing 8 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Vwa8provided by MGI
Official Full Name: von Willebrand factor A domain containing 8provided by MGI
Primary source: MGI:MGI:1919008
See related: Ensembl:ENSMUSG00000058997 AllianceGenome:MGI:1919008
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Kiaa0564; mKIAA0564; 1300010F03Rik; 4932416F07Rik
Summary: Predicted to enable ATP binding activity and ATP hydrolysis activity. Located in mitochondrion. Is expressed in several structures, including brain; genitourinary system; gut; liver; and spleen. Orthologous to human VWA8 (von Willebrand factor A domain containing 8). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in kidney adult (RPKM 14.4), heart adult (RPKM 12.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 D3; 14 41.9 cM

Exon count:: 47

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (79086489..79439750)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (78849058..79202310)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

VWA8 null cells had higher levels of oxidative stress and protein degradation; assays of hydrogen peroxide production revealed higher levels of production of reactive oxygen species.
Title: Deletion of the Mitochondrial Protein VWA8 Induces Oxidative Stress and an HNF4α Compensatory Response in Hepatocytes.
Analyses indicate that the mouse Vwa8 gene produces two transcripts; the full-length Vwa8a is highly expressed relative to the truncated Vwa8b transcript across all developmental time points and tissues analyzed.These data establish the development timeline and expression profile for both Vwa8a and Vwa8b.
Title: The spatial and developmental expression of mouse Vwa8 (von Willebrand domain-containing protein 8).
The VWA8 protein was targeted exclusively to mitochondria in mouse AML12 liver cells, and this was prevented by deletion of the targeting sequence.
Title: Characterization of the novel protein KIAA0564 (Von Willebrand Domain-containing Protein 8).

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2)
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D14Mit35 (e-PCR), detects polymorphism
- UniSTS:127393

AI957255 (e-PCR)
- UniSTS:164566

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IDA Inferred from Direct Assay more info	PubMed
enables molecular_function	ND No biological Data available more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in peroxisome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: von Willebrand factor A domain-containing protein 8

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.

mRNA and Protein(s)

NM_027906.1 → NP_082182.1 von Willebrand factor A domain-containing protein 8 isoform 1 precursor

See identical proteins and their annotated locations for NP_082182.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes a longer protein isoform (1).

Source sequence(s)

AC124709, AC139758, AC155167

Consensus CDS

CCDS49550.1

UniProtKB/Swiss-Prot

Q3U4P9, Q6ZQ94, Q8CC88, Q8CDH8, Q8VCU3

Related

ENSMUSP00000048925.6, ENSMUST00000040990.7

Conserved Domains (2) summary

pfam07728
Location:104 → 260

AAA_5; AAA domain (dynein-related subfamily)

cl00057
Location:1713 → 1902

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 ...
NM_173758.3 → NP_776119.2 von Willebrand factor A domain-containing protein 8 isoform 2 precursor

See identical proteins and their annotated locations for NP_776119.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents a shorter transcript with a distinct UTR and polyA signal and site, compared to variant 1. The resulting predicted protein (isoform 2) is much shorter than isoform 1.

Source sequence(s)

AC124709, AC155167

Consensus CDS

CCDS88721.1

UniProtKB/Swiss-Prot

Q8CC88

Related

ENSMUSP00000154270.2, ENSMUST00000227255.2

Conserved Domains (1) summary

pfam07728
Location:104 → 260

AAA_5; AAA domain (dynein-related subfamily)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000080.7 Reference GRCm39 C57BL/6J

Range

79086489..79439750

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011245038.4 → XP_011243340.1 von Willebrand factor A domain-containing protein 8 isoform X1

Conserved Domains (3) summary

COG5271
Location:229 → 906

MDN1; Midasin, AAA ATPase with vWA domain, involved in ribosome maturation [Translation, ribosomal structure and biogenesis]

pfam07728
Location:104 → 260

AAA_5; AAA domain (dynein-related subfamily)

cl38936
Location:441 → 602

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases