1. Gene
  2. VAMP1 - vesicle associated membrane protein 1 Gene

VAMP1 - vesicle associated membrane protein 1 Gene

Homo sapiens

Also known as SYB1; CMS25; SPAX1; VAMP-1

Gene ID: 6843 | Gene type: protein coding

About VAMP1

Cytogenetic location: 12p13.31 Genomic coordinates (GRCh38): 12:6,462,237-6,470,677 (from NCBI)

This gene has 8 transcripts (splice variants), 126 orthologues, 10 paralogues and is associated with 4 phenotypes. Broad expression in bone marrow (RPKM 21.7), lymph node (RPKM 20.9) and 23 other tissues.

Summary

Synapotobrevins, syntaxins, and the synaptosomal-associated protein SNAP25 are the main components of a protein complex involved in the docking and/or fusion of synaptic vesicles with the presynaptic membrane. The protein encoded by this gene is a member of the vesicle-associated membrane protein (VAMP)/synaptobrevin family. Mutations in this gene are associated with autosomal dominant spastic ataxia 1. Multiple alternative splice variants have been described, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2014]

VAMP1 Products(4)

mRNA Protein Name
NM_001297438.2 NP_001284367.1 vesicle-associated membrane protein 1 isoform 4
NM_014231.5 NP_055046.1 vesicle-associated membrane protein 1 isoform 1
NM_016830.4 NP_058439.1 vesicle-associated membrane protein 1 isoform 3
NM_199245.3 NP_954740.1 vesicle-associated membrane protein 1 isoform 2

VAMP1 Protein Structure

Synaptobrevin

Synaptobrevin: Synaptobrevin (30 - 117)

  • 0
  • 100
  • 118 a.a.
Protein Preferred Names Protein Names

vesicle-associated membrane protein 1

vesicle-associated membrane protein 1 (synaptobrevin 1)

Related Diseases

Diseases Alias
Spastic Ataxia 1, Autosomal Dominant

SPAX1

Ataxia, Spastic, 1, Autosomal Dominant

Autosomal Dominant Spastic Ataxia Type 1

Ataxia, Spastic, Type 1, Autosomal Dominant

Myasthenic Syndrome, Congenital, 25, Presynaptic

CMS25

Myasthenic Syndrome, Congenital, 25

Spastic Ataxia 1
Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia

Presynaptic Congenital Myasthenic Syndromes

Presynaptic Congenital Myasthenic Syndrome

Congenital Myasthenic Syndromes, Presynaptic

Autosomal Dominant Spastic Ataxia

Ad-Spax

Spastic Ataxia

Spax

Ataxia, Spastic

Foodborne Botulism

Botulism

Botulism Poisoning

Intoxication With Clostridium Botulinum Toxin

Wound Botulism

Food Poisoning Due To Clostridium Botulinum

Infection Due To Clostridium Botulinum

Infant Botulism

Intoxication Botulism

Botulism, Infantile

Clostridium Botulinum Poisoning

Botulism Nos

Infant Botulism

Infant Intestinal Botulism

Infant Intestinal Toxemia Botulism

Infant Intestinal Toxin-Mediated Botulism

Infantile Botulism

Botulism, Infantile

Intermittent Squint

Intermittent Heterotropia

Intermittent Tropia

Wound Botulism

Cutaneous Infectious Botulism

Cutaneous Toxin-Mediated Botulism

Inoculation Botulism

Skin Infectious Botulism

Skin Toxin-Mediated Botulism

Tetanus Neonatorum

Neonatal Tetanus

NNT

Trismus Neonatorum

Newborn Trismus

Spinocerebellar Ataxia, Autosomal Recessive 23

SCAR23

Autosomal Recessive Spinocerebellar Ataxia 23

Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency

Autosomal Recessive Cerebellar Ataxia - Epilepsy - Intellectual Disability Syndrome Due To Tud Deficiency

Spinocerebellar Ataxia Autosomal Recessive Type 23

Spinocerebellar Ataxia, Autosomal Recessive, 23

Ataxia, Spinocerebellar, Autosomal Recessive, Type 23

Chief Cell Adenoma

Chief Cell Adenoma Of Parathyroid Gland

Severe Congenital Neutropenia 5

Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome

Congenital Neutropenia-Bone Marrow Fibrosis-Nephromegaly Syndrome

Vps45 Deficiency

Scn5

Neuromuscular Junction Disease

Neuromuscular Junction Diseases

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

Orthologs Information

Species Symbol Source ID
Rattus norvegicus VAMP1 RGD RGD:3948
Canis familiaris VAMP1 VGNC VGNC:54386
Mus musculus VAMP1 MGD MGI:1313276
Bos taurus VAMP1 VGNC VGNC:36756