VWA1 (von Willebrand factor A domain containing 1)

2014-11-01  

Identity

HGNC
VWA1
LOCATION
1p36.33
LOCUSID
64856
ALIAS
HMNMYO,WARP

Other Information

Locus ID:

NCBI: 64856
MIM: 611901
HGNC: 30910
Ensembl: ENSG00000179403

Variants:

dbSNP: 64856
ClinVar: 64856
TCGA: ENSG00000179403
COSMIC: VWA1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000179403ENST00000338660Q6PCB0
ENSG00000179403ENST00000471398J3QRR0
ENSG00000179403ENST00000476993Q6PCB0
ENSG00000179403ENST00000495558J3QLP3

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA445174OsteoarthritisDiseaseMultilinkAnnotationassociated26309605

References

Pubmed IDYearTitleCitations
334597602021Bi-allelic truncating mutations in VWA1 cause neuromyopathy.9
334597602021Bi-allelic truncating mutations in VWA1 cause neuromyopathy.9
262131262015Von Willebrand factor-A1 domain binds platelet glycoprotein Ibα in multiple states with distinctive force-dependent dissociation kinetics.32
262131262015Von Willebrand factor-A1 domain binds platelet glycoprotein Ibα in multiple states with distinctive force-dependent dissociation kinetics.32
235239022013The matrilin-3 VWA1 domain modulates interleukin-6 release from primary human chondrocytes.3
235239022013The matrilin-3 VWA1 domain modulates interleukin-6 release from primary human chondrocytes.3
233007792012WARP interacts with collagen VI-containing microfibrils in the pericellular matrix of human chondrocytes.12
233007792012WARP interacts with collagen VI-containing microfibrils in the pericellular matrix of human chondrocytes.12
209710962011Immunocytochemical distribution of WARP (von Willebrand A domain-related protein) in the inner ear.5
209710962011Immunocytochemical distribution of WARP (von Willebrand A domain-related protein) in the inner ear.5
171878232007Conformational stability and domain unfolding of the Von Willebrand factor A domains.46
171878232007Conformational stability and domain unfolding of the Von Willebrand factor A domains.46
164072852006WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecan.18
164072852006WARP is a novel multimeric component of the chondrocyte pericellular matrix that interacts with perlecan.18
145276662003Is there an evolutionary relationship between WARP (von Willebrand factor A-domain-related protein) and the FACIT and FACIT-like collagens?1

Citation

Dessen P

VWA1 (von Willebrand factor A domain containing 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75661/teaching-explorer/css/lib/dataTables.bootstrap.min.css