ESYT1 - extended synaptotagmin 1 Gene

Homo sapiens

Also known as MBC2; FAM62A

Gene ID: 23344 | Gene type: protein coding

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	Reference	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	Reference	Source
involved in intermembrane lipid transfer	IDA IDA: Inferred from direct assay	30093493	GOA

Cellular Component GO Annotation	Evidence	Reference	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

0
200
400
600
800
1000
1104 a.a.

Protein Preferred Names

Protein Names

extended synaptotagmin-1

extended synaptotagmin like protein 1

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04548	ESYT1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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