2. Gene
  3. VWA1 - von Willebrand factor A domain containing 1 Gene

VWA1 - von Willebrand factor A domain containing 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as WARP; HMNMYO

Gene ID: 64856 | Gene type: protein coding

About VWA1

Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:1,435,690-1,442,882 (from NCBI)

This gene has 4 transcripts (splice variants), 240 orthologues, 12 paralogues and is associated with 2 phenotypes. Broad expression in prostate (RPKM 28.1), placenta (RPKM 11.5) and 23 other tissues.

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]

VWA1 Products(2)

mRNA Protein Name
NM_022834.5 NP_073745.2 von Willebrand factor A domain-containing protein 1 isoform 1 precursor
NM_199121.3 NP_954572.2 von Willebrand factor A domain-containing protein 1 isoform 2 precursor

VWA1 Protein Structure

VWA

VWA: von Willebrand factor type A domain (34 - 197)

fn3

fn3: Fibronectin type III domain (214 - 282)

fn3

fn3: Fibronectin type III domain (335 - 409)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 445 a.a.
Protein Preferred Names Protein Names

von Willebrand factor A domain-containing protein 1

von Willebrand factor A domain-related protein

Related Diseases

Diseases Alias
Neuropathy, Hereditary Motor, With Myopathic Features

HMNMYO
Neuronopathy, Distal Hereditary Motor, Type Va

Dsmav

Distal Hereditary Motor Neuropathy Type V

Young Adult-Onset Distal Hereditary Motor Neuropathy

Neuronopathy, Distal Hereditary Motor, Type V

Distal Hereditary Motor Neuronopathy Type 5

Dhmn5

Distal Spinal Muscular Atrophy Type 5

HMN5A

Hmn5

Dhmn5a

Dhmn Va

Dsmava

Spinal Muscular Atrophy, Distal, With Upper Limb Predominance

Distal Hmn V

Autosomal Recessive Distal Spinal Muscular Atrophy Type 5

Dsma5

Young Adult-Onset Dhmn

Dhmn-V

Hmn V

Neuronopathy, Distal Hereditary Motor, Type 5a

Hmn 5a

Neuropathy, Distal Hereditary Motor, Type Va

Spinal Muscular Atrophy, Distal, Type Va

Spinal Muscular Atrophy, Distal, Type V

Distal Spinal Muscular Atrophy Type V

Distal Spinal Muscular Atrophy With Upper Limb Predominance

Distal Hereditary Motor Neuronopathy Type 5a

Distal Hmn Va

Distal Spinal Muscular Atrophy Type Va

Distal Hereditary Motor Neuropathy, Type V

Distal Hereditary Motor Neuronopathy, Type V

Distal Spinal Muscular Atrophy, Type V

Spinal Muscular Atrophy, Distal Type V

Distal Hereditary Motor Neuropathy Type 5

Neuronopathy, Distal Hereditary Motor, 5a

Dhmn V

Distal Hereditary Motor Neuronopathy Type Va

Distal Hereditary Motor Neuropathy Type Va

Dsma-V

Hmn Va

Spinal Muscular Atrophy Distal Type V

Spinal Muscular Atrophy Distal Type Va

Spinal Muscular Atrophy Distal With Upper Limb Predominance

Neuropathy, Distal Hereditary Motor, Type V

Neuropathy, Motor, Distal, Hereditary, Type Va
Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder
Pancreatic Signet Ring Cell Adenocarcinoma

Pancreatic Signet Ring Cell Carcinoma

Signet Ring Cell Carcinoma Of Pancreas
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Northern Epilepsy

Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant

Epmr

Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type

Northern Epilepsy Syndrome

Epilepsy, Progressive, With Mental Retardation

Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant

Progressive Epilepsy With Mental Retardation, Northern Epilepsy

Cln8 Disease, Northern Epilepsy Variant

Ncl, Northern Epilepsy Variant

Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant

CLN8NE

Ceroid Lipofuscinosis, Neuronal, 8
Lissencephaly 3

LIS3

Lissencephaly Due To Tuba1a Mutation

Lissencephaly Type 3

Lissencephaly, Type 3
Thrombophilia, X-Linked, Due To Factor Ix Defect

THPH8

Deep Venous Thrombosis, Protection Against

X-Linked Thrombophilia Due To Factor Ix Defect

Thrombophilia, X-Linked, Due To Factor 9 Defect

Thrombophilia 8, X-Linked, Due To Factor Ix Defect
Retinitis Pigmentosa 44

RP44

Retinitis Pigmentosa, Type 44
Spinal Muscular Atrophy With Lower Extremity Predominant

Spinal Muscular Atrophy With Lower Extremity Predominance

Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures

Kugelberg-Welander Syndrome, Autosomal Dominant

Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures

Sma-Led

Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant

Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant

Spinal Muscular Atrophy, Lower Extremity, Dominant
Retinitis Pigmentosa 36

RP36

Retinitis Pigmentosa-36

Retinitis Pigmentosa, Type 36
Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS15725 VWA1 Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus VWA1 VGNC VGNC:36850
Canis familiaris VWA1 VGNC VGNC:48318
Macaca mulatta VWA1 VGNC VGNC:81606
Rattus norvegicus VWA1 RGD RGD:1311476
Mus musculus VWA1 MGD MGI:2179729