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

VWA1 - von Willebrand factor A domain containing 1 Gene

中文名称:含 von Willebrand 因子 A 结构域 1

种属: Homo sapiens

同用名: WARP; HMNMYO

基因 ID: 64856 | 基因类型: protein coding

关于 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.

功能概要

VWA1 属于细胞外基质蛋白的 von Willebrand 因子 (VWF; MIM 613160) A (VWFA) 结构域超家族,似乎在软骨结构和功能中发挥作用 (Fitzgerald 等人,2002 [PubMed 12062410]) 。[OMIM,2010 年 11 月]

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 基因产物(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 蛋白结构

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.
蛋白主名 其他名称

von Willebrand factor A domain-containing protein 1

von Willebrand factor A domain-related protein

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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