1. Gene
  2. BET1 - Bet1 golgi vesicular membrane trafficking protein Gene

BET1 - Bet1 golgi vesicular membrane trafficking protein Gene

Homo sapiens

Also known as HBET1

Gene ID: 10282 | Gene type: protein coding

About BET1

Cytogenetic location: 7q21.3 Genomic coordinates (GRCh38): 7:93,962,762-94,004,355 (from NCBI)

This gene has 8 transcripts (splice variants) and 76 orthologues. Ubiquitous expression in placenta (RPKM 6.4), adrenal (RPKM 5.3) and 25 other tissues.

Summary

This gene encodes a golgi-associated membrane protein that participates in vesicular transport from the endoplasmic reticulum (ER) to the Golgi complex. The encoded protein functions as a soluble N-ethylaleimide-sensitive factor attachment protein receptor and may be involved in the docking of ER-derived vesicles with the cis-Golgi membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

BET1 Products(2)

mRNA Protein Name
NM_001317739.2 NP_001304668.1 BET1 homolog isoform 2
NM_005868.6 NP_005859.1 BET1 homolog isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
16189514 GOA
Biological Process GO Annotation Evidence Reference Source
involved in endoplasmic reticulum to Golgi vesicle-mediated transport IMP
IMP: Inferred from mutant phenotype
34779586 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cis-Golgi network IDA
IDA: Inferred from direct assay
34779586 GOA
located in endoplasmic reticulum IDA
IDA: Inferred from direct assay
34779586 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BET1 Protein Structure

SNARE

SNARE: SNARE domain (31 - 90)

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

BET1 homolog

Bet1p homolog

Related Diseases

Diseases Alias
Citrullinemia, Type Ii, Neonatal-Onset

NICCD

Citrin Deficiency

Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency

Citrullinemia, Type Ii, Neonatal-Onset, With Or Without Failure To Thrive And Dyslipidemia

Cholestasis, Neonatal Intrahepatic, Caused By Citrin Deficiency

Neonatal-Onset Type Ii Citrullinemia

Neonatal Intrahepatic Cholestasis Caused By Citrin Deficiency

Neonatal-Onset Citrullinemia Type 2

Neonatal-Onset Citrullinemia Type Ii

Neonatal-Onset Type 2 Citrullinemia

Adult-Onset Citrullinemia Type 2

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
Bos taurus BET1 VGNC VGNC:26475
Rattus norvegicus BET1 RGD RGD:2203
Mus musculus BET1 MGD MGI:1343104
Macaca mulatta BET1 VGNC VGNC:80799