Vwa1 von Willebrand factor A domain containing 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Vwa1provided by MGI
Official Full Name: von Willebrand factor A domain containing 1provided by MGI
Primary source: MGI:MGI:2179729
See related: Ensembl:ENSMUSG00000042116 AllianceGenome:MGI:2179729
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: WARP; 4932416A11Rik
Summary: Enables microfibril binding activity and protein homodimerization activity. Acts upstream of or within behavioral response to pain; extracellular matrix organization; and protein homooligomerization. Located in basement membrane; extracellular region; and interstitial matrix. Is active in extracellular matrix. Is expressed in several structures, including adipose tissue; alimentary system; eye; genitourinary system; and respiratory system. Human ortholog(s) of this gene implicated in autosomal recessive distal hereditary motor neuronopathy 7. Orthologous to human VWA1 (von Willebrand factor A domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in duodenum adult (RPKM 40.7), small intestine adult (RPKM 34.4) and 23 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 E2; 4 87.31 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (155852952..155859042, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (155768495..155774693, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

although WARP is not essential for basement membrane formation or musculoskeletal development, it has critical roles in the structure and function of peripheral nerves.
Title: Mice lacking the extracellular matrix protein WARP develop normally but have compromised peripheral nerve structure and function.
identification of WARP as a component of a limited range of specialized basement membranes provides further evidence for the heterogeneous composition of basement membranes between different tissues
Title: The extracellular matrix protein WARP is a novel component of a distinct subset of basement membranes.
evolutionary relationship between von Willebrand factor A-domain-related protein (WARP), and the fibril-associated collagen with interrupted triple helix (FACIT) and FACIT-like subfamilies of collagens
Title: Is there an evolutionary relationship between WARP (von Willebrand factor A-domain-related protein) and the FACIT and FACIT-like collagens?
WARP forms macromolecular structures that interact with perlecan to contribute to the assembly and/or maintenance of "permanent" cartilage structures during development and in mature cartilages
Title: WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecan.

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (3) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables identical protein binding	IDA Inferred from Direct Assay more info	PubMed
enables microfibril binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within behavioral response to pain	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within extracellular matrix organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within extracellular matrix organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein homooligomerization	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in basement membrane	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor more info
is_active_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular matrix	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular region	IDA Inferred from Direct Assay more info	PubMed
located_in interstitial matrix	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: von Willebrand factor A domain-containing protein 1

Names: von Willebrand factor A domain-related protein

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_147776.4 → NP_680085.3 von Willebrand factor A domain-containing protein 1 precursor

See identical proteins and their annotated locations for NP_680085.3

Status: VALIDATED

Source sequence(s)

AK030019, AK077240, CX210560

Consensus CDS

CCDS19039.1

UniProtKB/Swiss-Prot

Q8C0Q7, Q8R2Z5, Q8VDV9, Q923K3

Related

ENSMUSP00000040405.4, ENSMUST00000042196.4

Conserved Domains (2) summary

cd01472
Location:34 → 172

vWA_collagen; von Willebrand factor (vWF) type A domain; equivalent to the I-domain of integrins. This domain has a variety of functions including: intermolecular adhesion, cell migration, signalling, transcription, and DNA repair. In integrins these domains form ...

pfam00041
Location:308 → 378

fn3; Fibronectin type III domain

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_000070.7 Reference GRCm39 C57BL/6J

Range

155852952..155859042 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036164134.1 → XP_036020027.1 von Willebrand factor A domain-containing protein 1 isoform X1

Conserved Domains (2) summary

cd00063
Location:96 → 172

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

pfam00041
Location:2 → 71

fn3; Fibronectin type III domain
XM_030253579.2 → XP_030109439.1 von Willebrand factor A domain-containing protein 1 isoform X2