ESYT1 - extended synaptotagmin 1 Gene

Also Known as MBC2; FAM62A

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 23344

About ESYT1

Cytogenetic location: 12q13.2 Genomic coordinates (GRCh38): 12:56,128,267-56,144,674 (from NCBI)

This gene has 10 transcripts (splice variants), 278 orthologues and 2 paralogues. Ubiquitous expression in fat (RPKM 71.4), lung (RPKM 26.2) and 25 other tissues.

Summary

Enables identical protein binding activity. Predicted to be involved in endoplasmic reticulum-plasma membrane tethering and lipid transport. Located in endoplasmic reticulum. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]

ESYT1 Products (2)

mRNA Protein Name
NM_001184796.2 NP_001171725.1 extended synaptotagmin-1 isoform 1
NM_015292.3 NP_056107.1 extended synaptotagmin-1 isoform 2

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables identical protein binding IPI
IPI: Inferred from physical interaction
23791178 GOA
enables phospholipid transfer activity IDA
IDA: Inferred from direct assay
30093493 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
15161933 GOA
Biological Process GO Annotation Evidence References Source
involved in intermembrane lipid transfer IDA
IDA: Inferred from direct assay
30093493 GOA
Cellular Component GO Annotation Evidence References Source
located in endoplasmic reticulum membrane IDA
IDA: Inferred from direct assay
23791178 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

ESYT1 Protein Structure

C2

C2: C2 domain (332 - 416)

C2

C2: C2 domain (481 - 551)

C2

C2: C2 domain (649 - 735)

C2

C2: C2 domain (801 - 868)

C2

C2: C2 domain (992 - 1076)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1104 a.a.
Protein Preferred Names Protein Names

extended synaptotagmin-1

  • extended synaptotagmin like protein 1

ESYT1 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
ESYT1 Q9BSJ8 ESYT2 Homo sapiens A0FGR8
Pull Down
22119785
Intra
ESYT1 Q9BSJ8 ESYT2 Homo sapiens A0FGR8
Anti Tag CoIP
23791178
Intra
ESYT1 Q9BSJ8 ESYT2 Homo sapiens A0FGR8
Anti Tag CoIP
35271311
Intra
ESYT1 Q9BSJ8 ESYT2 Homo sapiens A0FGR8
Anti Tag CoIP
27065097
Intra
ESYT1 Q9BSJ8 ESYT2 Homo sapiens A0FGR8
Confocal
23791178
Intra
ESYT1 Q9BSJ8 YWHAZ Homo sapiens P63104
Pull Down
15161933
Intra
ESYT1 Q9BSJ8 ESYT3 Homo sapiens A0FGR9
Anti Tag CoIP
27065097
Intra
ESYT1 Q9BSJ8 SYNJ2BP Homo sapiens P57105
Pull Down
22119785
Intra
ESYT1 Q9BSJ8 ESYT1 Homo sapiens Q9BSJ8
Anti Tag CoIP
23791178
Intra
ESYT1 Q9BSJ8 ESYT3 Homo sapiens A0FGR9
Confocal
23791178
Intra
ESYT1 Q9BSJ8 RDH11 Homo sapiens Q8TC12
Anti Tag CoIP
35271311
Intra
ESYT1 Q9BSJ8 ESYT1 Homo sapiens Q9BSJ8
Anti Tag CoIP
27065097
Cross: Cross-species interaction Intra: Intraspecies interaction

ESYT1 Antibodies

Cat. No. Product Name Application Reactivity
HY-P810009 E-Syt1 Antibody (YA9353) WB, ICC/IF, IF-Tissue, IP, ELISA human

Related Diseases

Diseases Alias
Congenital Nystagmus 1

  • Congenital Motor Nystagmus 1

  • Nys1

  • X-Linked Infantile Nystagmus 1
Stormorken Syndrome

  • Thrombocytopathy, Asplenia, And Miosis

  • Stormorken-Sjaastad-Langslet Syndrome

  • STRMK

  • York Platelet Syndrome

  • Yps

  • Thrombocytopathy, Asplenia And Miosis

  • Thrombocytopathy Asplenia Miosis

  • Thrombocytopathy-Asplenia-Miosis Syndrome

  • Miosis Disorder
Retinal Dystrophy With Leukodystrophy

  • RDLKD

  • Acbd5 Deficiency

  • Dystrophy, Retinal, With Leukodystrophy
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (2)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04548 ESYT1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS22493 Esyt1 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Mus musculus ESYT1 MGD MGI:1344426
Macaca mulatta ESYT1 VGNC VGNC:72405
Rattus norvegicus ESYT1 RGD RGD:3053
Felis catus ESYT1 VGNC VGNC:61971
Canis familiaris ESYT1 VGNC VGNC:40483
Bos taurus ESYT1 VGNC VGNC:28613
Others ESYT1 NCBI