1. Gene
  2. NAPB - NSF attachment protein beta Gene

NAPB - NSF attachment protein beta Gene

Homo sapiens

Also known as SNAPB; DEE107; SNAP-BETA

Gene ID: 63908 | Gene type: protein coding

About NAPB

Cytogenetic location: 20p11.21 Genomic coordinates (GRCh38): 20:23,374,522-23,421,488 (from NCBI)

This gene has 7 transcripts (splice variants), 283 orthologues, 2 paralogues and is associated with 1 phenotype. Biased expression in brain (RPKM 118.1) and adrenal (RPKM 14.6).

Summary

This gene encodes a member of the soluble N-ethyl-maleimide-sensitive fusion attachment protein (SNAP) family. SNAP proteins play a critical role in the docking and fusion of vesicles to target membranes as part of the 20S NSF-SNAP-SNARE complex. This gene encodes the SNAP beta isoform which has been shown to be preferentially expressed in brain tissue. The encoded protein also interacts with the GluR2 α-amino-3-hydroxy-5-methyl-4-isoxazolepropionate (AMPA) receptor subunit C-terminus and may play a role as a chaperone in the molecular processing of the AMPA receptor. [provided by RefSeq, Mar 2017]

NAPB Products(4)

mRNA Protein Name
NM_001283018.2 NP_001269947.1 beta-soluble NSF attachment protein isoform a
NM_001283020.2 NP_001269949.1 beta-soluble NSF attachment protein isoform c
NM_001283026.2 NP_001269955.1 beta-soluble NSF attachment protein isoform d
NM_022080.3 NP_071363.1 beta-soluble NSF attachment protein isoform b

NAPB Protein Structure

SNAP

SNAP: Soluble NSF attachment protein, SNAP (9 - 288)

  • 0
  • 100
  • 200
  • 298 a.a.
Protein Preferred Names Protein Names

beta-soluble NSF attachment protein

N-ethylmaleimide-sensitive factor attachment protein, beta

Related Diseases

Diseases Alias
Developmental And Epileptic Encephalopathy 107

DEE107

Developmental And Epileptic Encephalopathy-107

Amyotrophy, Hereditary Neuralgic

Hereditary Neuralgic Amyotrophy

Neuritis With Brachial Predilection

HNA

Napb

Brachial Plexus Neuropathy, Hereditary

Hereditary Brachial Plexus Neuropathy

Amyotrophy, Hereditary Neuralgic, With Predilection For Brachial Plexus

Brachial Neuralgia

Brachial Plexus Neuritis

Neuralgic Amyotrophy

Amyotrophic Neuralgia

Brachial Neuritis

Familial Brachial Plexus Neuritis

Heredofamilial Neuritis With Brachial Plexus Predilection

Shoulder Girdle Neuropathy

Hereditary Neuralgic Amyotrophy With Predilection For Brachial Plexus

Amyotrophy, Neuralgic, Hereditary

Acute Brachial Neuritis

Obsessive-Compulsive Personality Disorder

Anankastic Personality Disorder

Obsessive-Compulsive Personality

Compulsive Personality Disorder

Ocpd

Obsessional Personality Disorder

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
Canis familiaris NAPB VGNC VGNC:43620
Mus musculus NAPB MGD MGI:104562
Felis catus NAPB VGNC VGNC:81129
Macaca mulatta NAPB VGNC VGNC:74963
Bos taurus NAPB VGNC VGNC:31882
Rattus norvegicus NAPB RGD RGD:1589649