Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	64856
Gene name	Von Willebrand factor A domain containing 1
Gene symbol	VWA1
Synonyms (NCBI Gene)	HMNMYOHMNR7WARP
Chromosome	1
Chromosome location	1p36.33
Summary	VWA1 belongs to the von Willebrand factor (VWF; MIM 613160) A (VWFA) domain superfamily of extracellular matrix proteins and appears to play a role in cartilage structure and function (Fitzgerald et al., 2002 [PubMed 12062410]).[supplied by OMIM, Nov 2010

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miRTarBase ID	miRNA	Experiments	Reference
MIRT651662	hsa-miR-3943	HITS-CLIP	23824327
MIRT651660	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT651661	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT651658	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT651659	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT651657	hsa-miR-4313	HITS-CLIP	23824327
MIRT651656	hsa-miR-874-5p	HITS-CLIP	23824327
MIRT651655	hsa-miR-3909	HITS-CLIP	23824327
MIRT651654	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT651653	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT651652	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT651651	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT651650	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT457796	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT457797	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT457795	hsa-miR-4784	PAR-CLIP	23592263
MIRT457794	hsa-miR-6134	PAR-CLIP	23592263
MIRT457793	hsa-miR-139-3p	PAR-CLIP	23592263
MIRT457792	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT457791	hsa-miR-7154-3p	PAR-CLIP	23592263
MIRT457790	hsa-miR-765	PAR-CLIP	23592263
MIRT457789	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT457788	hsa-miR-3689d	PAR-CLIP	23592263
MIRT457786	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT457787	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT457785	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT457784	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT457783	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT457782	hsa-miR-597-5p	PAR-CLIP	23592263
MIRT457780	hsa-miR-592	PAR-CLIP	23592263
MIRT651662	hsa-miR-3943	HITS-CLIP	23824327
MIRT651660	hsa-miR-6780b-3p	HITS-CLIP	23824327
MIRT651661	hsa-miR-3158-5p	HITS-CLIP	23824327
MIRT651658	hsa-miR-5008-5p	HITS-CLIP	23824327
MIRT651659	hsa-miR-2467-3p	HITS-CLIP	23824327
MIRT651657	hsa-miR-4313	HITS-CLIP	23824327
MIRT651656	hsa-miR-874-5p	HITS-CLIP	23824327
MIRT651655	hsa-miR-3909	HITS-CLIP	23824327
MIRT651654	hsa-miR-6852-3p	HITS-CLIP	23824327
MIRT651653	hsa-miR-6780a-3p	HITS-CLIP	23824327
MIRT651652	hsa-miR-3678-3p	HITS-CLIP	23824327
MIRT651651	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT651650	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT457796	hsa-miR-6798-5p	PAR-CLIP	23592263
MIRT457797	hsa-miR-3150b-3p	PAR-CLIP	23592263
MIRT457795	hsa-miR-4784	PAR-CLIP	23592263
MIRT457794	hsa-miR-6134	PAR-CLIP	23592263
MIRT457793	hsa-miR-139-3p	PAR-CLIP	23592263
MIRT457792	hsa-miR-766-5p	PAR-CLIP	23592263
MIRT457791	hsa-miR-7154-3p	PAR-CLIP	23592263
MIRT457790	hsa-miR-765	PAR-CLIP	23592263
MIRT457789	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT457788	hsa-miR-3689d	PAR-CLIP	23592263
MIRT457786	hsa-miR-6851-5p	PAR-CLIP	23592263
MIRT457787	hsa-miR-6799-5p	PAR-CLIP	23592263
MIRT457785	hsa-miR-6825-5p	PAR-CLIP	23592263
MIRT457784	hsa-miR-6880-5p	PAR-CLIP	23592263
MIRT457783	hsa-miR-7847-3p	PAR-CLIP	23592263
MIRT457782	hsa-miR-597-5p	PAR-CLIP	23592263
MIRT457780	hsa-miR-592	PAR-CLIP	23592263
MIRT1488224	hsa-miR-597	CLIP-seq
MIRT1488225	hsa-miR-1202	CLIP-seq
MIRT1488226	hsa-miR-1225-3p	CLIP-seq
MIRT1488227	hsa-miR-1233	CLIP-seq
MIRT1488228	hsa-miR-148a	CLIP-seq
MIRT1488229	hsa-miR-148b	CLIP-seq
MIRT1488230	hsa-miR-152	CLIP-seq
MIRT1488231	hsa-miR-1825	CLIP-seq
MIRT1488232	hsa-miR-1908	CLIP-seq
MIRT1488233	hsa-miR-1909	CLIP-seq
MIRT1488234	hsa-miR-199a-5p	CLIP-seq
MIRT1488235	hsa-miR-199b-5p	CLIP-seq
MIRT1488236	hsa-miR-3119	CLIP-seq
MIRT1488237	hsa-miR-3194-5p	CLIP-seq
MIRT1488238	hsa-miR-331-3p	CLIP-seq
MIRT1488239	hsa-miR-3605-3p	CLIP-seq
MIRT1488240	hsa-miR-3663-3p	CLIP-seq
MIRT1488241	hsa-miR-3677-5p	CLIP-seq
MIRT1488242	hsa-miR-3908	CLIP-seq
MIRT1488243	hsa-miR-3972	CLIP-seq
MIRT1488244	hsa-miR-4435	CLIP-seq
MIRT1488245	hsa-miR-4455	CLIP-seq
MIRT1488246	hsa-miR-4474-3p	CLIP-seq
MIRT1488247	hsa-miR-4519	CLIP-seq
MIRT1488248	hsa-miR-4530	CLIP-seq
MIRT1488249	hsa-miR-4776-3p	CLIP-seq
MIRT1488250	hsa-miR-548q	CLIP-seq
MIRT1488251	hsa-miR-634	CLIP-seq
MIRT1488252	hsa-miR-644	CLIP-seq
MIRT1488253	hsa-miR-663	CLIP-seq
MIRT2147001	hsa-miR-3656	CLIP-seq
MIRT2147002	hsa-miR-3920	CLIP-seq
MIRT2147003	hsa-miR-4690-3p	CLIP-seq
MIRT2147004	hsa-miR-541	CLIP-seq
MIRT2147005	hsa-miR-604	CLIP-seq
MIRT2147006	hsa-miR-615-5p	CLIP-seq
MIRT2147007	hsa-miR-621	CLIP-seq
MIRT2147008	hsa-miR-642b	CLIP-seq
MIRT2147009	hsa-miR-647	CLIP-seq
MIRT2147010	hsa-miR-654-5p	CLIP-seq
MIRT2147011	hsa-miR-1205	CLIP-seq
MIRT2367523	hsa-miR-1271	CLIP-seq
MIRT2367524	hsa-miR-1273f	CLIP-seq
MIRT2367525	hsa-miR-143	CLIP-seq
MIRT2367526	hsa-miR-3189-3p	CLIP-seq
MIRT2367527	hsa-miR-4534	CLIP-seq
MIRT2367528	hsa-miR-4708-5p	CLIP-seq
MIRT2367529	hsa-miR-4770	CLIP-seq
MIRT2367530	hsa-miR-502-5p	CLIP-seq
MIRT2367531	hsa-miR-96	CLIP-seq
MIRT2147011	hsa-miR-1205	CLIP-seq
MIRT1488233	hsa-miR-1909	CLIP-seq
MIRT1488239	hsa-miR-3605-3p	CLIP-seq
MIRT2396887	hsa-miR-3907	CLIP-seq
MIRT2396888	hsa-miR-4715-3p	CLIP-seq
MIRT1488225	hsa-miR-1202	CLIP-seq
MIRT2695105	hsa-miR-1471	CLIP-seq
MIRT1488237	hsa-miR-3194-5p	CLIP-seq
MIRT1488243	hsa-miR-3972	CLIP-seq
MIRT2695106	hsa-miR-4419a	CLIP-seq
MIRT2695107	hsa-miR-4510	CLIP-seq
MIRT1488248	hsa-miR-4530	CLIP-seq
MIRT1488249	hsa-miR-4776-3p	CLIP-seq
MIRT2695108	hsa-miR-922	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 27068509, 28327460
GO:0005576	Component	Extracellular region	IEA
GO:0005604	Component	Basement membrane	IEA
GO:0005614	Component	Interstitial matrix	IEA
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 27068509, 28327460
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0048266	Process	Behavioral response to pain	IEA
GO:0050436	Function	Microfibril binding	IEA
GO:0051260	Process	Protein homooligomerization	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 23533145

MIM	HGNC	e!Ensembl
611901	30910	ENSG00000179403

Q6PCB0

Protein name

von Willebrand factor A domain-containing protein 1

Protein function

Promotes matrix assembly (By similarity). Involved in the organization of skeletal muscles and in the formation of neuromuscular junctions (Probable).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00092	VWA	34 → 204	von Willebrand factor type A domain	Domain
PF00041	fn3	213 → 289	Fibronectin type III domain	Domain
PF00041	fn3	333 → 416	Fibronectin type III domain	Domain

Sequence

MLPWTALGLALSLRLALARSGAERGPPASAPRGDLMFLLDSSASVSHYEFSRVREFVGQL
VAPLPLGTGALRASLVHVGSRPYTEFPFGQHSSGEAAQDAVRASAQRMGDTHTGLALVYA
KEQLFAEASGARPGVPKVLVWVTDGGSSDPVGPPMQELKDLGVTVFIVSTGRGNFLELSA
AASAPAEKHLHFVDVDDLHIIVQELRGSILDAMRPQQLHATEITSSGFRLAWPPLLTADS
GYYVLELVPSAQPGAARRQQLPGNATDWIWAGLDPDTDYDVALVPESNVRLLRPQILRVR
TRPGEAGPGASGPESGAGPAPTQLAALPAPEEAGPERIVISHARPRSLRVSWAPALGSAA
ALGYHVQFGPLRGGEAQRVEVPAGRNCTTLQGLAPGTAYLVTVTAAFRSGRESALSAKAC
TPDGPRPRPRPVPRAPTPGTASREP

Sequence length

445

Interactions

View interactions

	Reactome
			Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neuromuscular disease	Pathogenic; Likely pathogenic	rs749383814, rs762573767, rs1638559065, rs767263669, rs746212067	RCV001839415 RCV001839418 RCV001839417 RCV001839420 RCV001839416 RCV001839419	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuronopathy, distal hereditary motor, autosomal recessive 7	Likely pathogenic; Pathogenic	rs2523723957, rs2523721234, rs760281341, rs749383814, rs762573767, rs767263669, rs746212067	RCV003335953 RCV004556100 RCV003989450 RCV001310235 RCV001310232 RCV001310233 RCV001310237 RCV001310234	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VWA1-related disorder	Likely pathogenic; Pathogenic	rs749383814, rs762573767	RCV003897015 RCV003413814 RCV003425885	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
NEUROMUSCULAR DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 5	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Developmental Dysplasia of the Hip	Associate	33522290	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis Hip	Associate	33522290	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	23571109	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Associate	37603355	★★★★★ ★☆☆☆☆ Found in Text Mining only

VWA1 (von Willebrand factor A domain containing 1)