vwa8 von Willebrand factor A domain containing 8 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: vwa8provided by ZNC
Official Full Name: von Willebrand factor A domain containing 8provided by ZNC
Primary source: ZFIN:ZDB-GENE-070912-407
See related: Ensembl:ENSDARG00000078593 AllianceGenome:ZFIN:ZDB-GENE-070912-407
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: si:dkey-18l1.1
Summary: Predicted to enable ATP hydrolysis activity. Acts upstream of or within notochord development. Predicted to be located in mitochondrion. Predicted to be active in cytoplasm. Orthologous to human VWA8 (von Willebrand factor A domain containing 8). [provided by Alliance of Genome Resources, Dec 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 9

Exon count:: 45

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	9	NC_007120.7 (17540751..17783420, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	9	NC_007120.6 (17533039..17775708, complement)

Chromosome 9 - NC_007120.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.
Title: Mutations in VWA8 cause autosomal-dominant retinitis pigmentosa via aberrant mitophagy activation.

Submit: New GeneRIF Correction

General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	IEA Inferred from Electronic Annotation more info
enables ATP hydrolysis activity	ISS Inferred from Sequence or Structural Similarity more info
enables nucleotide binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within notochord development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity 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_001128338.1 → NP_001121810.1 von Willebrand factor A domain-containing protein 8

See identical proteins and their annotated locations for NP_001121810.1

Status: PROVISIONAL

Source sequence(s)

AL929161, BX649198

UniProtKB/Swiss-Prot

B0R0T1

Related

ENSDARP00000120404.1, ENSDART00000146706.3

Conserved Domains (2) summary

pfam07728
Location:97 → 253

AAA_5; AAA domain (dynein-related subfamily)

cl00057
Location:1704 → 1893

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 ...