ESYT1 extended synaptotagmin 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: ESYT1provided by HGNC
Official Full Name: extended synaptotagmin 1provided by HGNC
Primary source: HGNC:HGNC:29534
See related: Ensembl:ENSG00000139641 MIM:616670; AllianceGenome:HGNC:29534
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MBC2; FAM62A
Summary: Enables identical protein binding activity and phospholipid transfer activity. Involved in intermembrane lipid transfer. Located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in fat (RPKM 71.4), lung (RPKM 26.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q13.2

Exon count:: 31

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (56128267..56144674)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (56095865..56112273)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (56522051..56538458)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PERK recruits E-Syt1 at ER-mitochondria contacts for mitochondrial lipid transport and respiration.
Title: PERK recruits E-Syt1 at ER-mitochondria contacts for mitochondrial lipid transport and respiration.
E-syt1 Re-arranges STIM1 Clusters to Stabilize Ring-shaped ER-PM Contact Sites and Accelerate Ca(2+) Store Replenishment.
Title: E-syt1 Re-arranges STIM1 Clusters to Stabilize Ring-shaped ER-PM Contact Sites and Accelerate Ca(2+) Store Replenishment.
a main effect of Ca(2+) on E-Syt1 is to reverse an autoinhibited state and to couple membrane tethering with lipid transport.
Title: Ca(2+) releases E-Syt1 autoinhibition to couple ER-plasma membrane tethering with lipid transport.
knockdown of ESYT1 (and family members ESYT2 and ESYT3) significantly decreased ANO1 current density.
Title: A novel microscopy-based assay identifies extended synaptotagmin-1 (ESYT1) as a positive regulator of anoctamin 1 traffic.
This study identified and confirmed ESYT1 protein changes within the postsynaptic density in schizophrenia.
Title: Proteomic and genomic evidence implicates the postsynaptic density in schizophrenia.
ESyt2 and ESyt3, but not ESyt1, interact with activated FGFR1.
Title: Extended Synaptotagmin Interaction with the Fibroblast Growth Factor Receptor Depends on Receptor Conformation, Not Catalytic Activity.
The extended synaptotagmins (E-Syt1, E-Syt2, and E-Syt3) are endoplasmic reticulum-anchored proteins. They form homo- and heteromeric complexes that mediate contacts with the plasma membrane. Such contacts are critically dependent on the presence of PI(4,5)P2 in this membrane and are additionally regulated by cytosolic Ca2+ via the Ca2+-sensing property of E-Syt1.
Title: PI(4,5)P(2)-dependent and Ca(2+)-regulated ER-PM interactions mediated by the extended synaptotagmins.
E-Syt1 is a mediator of cancer cell invasion.
Title: The oncogenic lung cancer fusion kinase CD74-ROS activates a novel invasiveness pathway through E-Syt1 phosphorylation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium-dependent phospholipid binding	IBA Inferred from Biological aspect of Ancestor more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables phosphatidylcholine binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylethanolamine binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol binding	IBA Inferred from Biological aspect of Ancestor more info
enables phospholipid transfer activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in endoplasmic reticulum-plasma membrane tethering	IEA Inferred from Electronic Annotation more info
involved_in intermembrane lipid transfer	IDA Inferred from Direct Assay more info	PubMed
involved_in phospholipid transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: extended synaptotagmin-1

Names: extended synaptotagmin like protein 1; extended synaptotagmin protein 1; family with sequence similarity 62 (C2 domain containing), member A; membrane-bound C2 domain-containing protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001184796.2 → NP_001171725.1 extended synaptotagmin-1 isoform 1

See identical proteins and their annotated locations for NP_001171725.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AB018290, AJ346011, DB100366

Consensus CDS

CCDS53801.1

UniProtKB/TrEMBL

B3KMV5

Related

ENSP00000267113.4, ENST00000267113.4

Conserved Domains (4) summary

cd04030
Location:981 → 1106

C2C_KIAA1228; C2 domain third repeat present in uncharacterized human KIAA1228-like proteins

cd04050
Location:479 → 593

C2B_Synaptotagmin-like; C2 domain second repeat present in Synaptotagmin-like proteins

cd08391
Location:657 → 776

C2A_C2C_Synaptotagmin_like; C2 domain first and third repeat in Synaptotagmin-like proteins

pfam17047
Location:135 → 313

SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain
NM_015292.3 → NP_056107.1 extended synaptotagmin-1 isoform 2

See identical proteins and their annotated locations for NP_056107.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the coding region compared to variant 1. The resulting protein (isoform 2) is shorter compared to isoform 1.

Source sequence(s)

AJ346011, BC004998, DB100366

Consensus CDS

CCDS8904.1

UniProtKB/Swiss-Prot

A0FGR7, A8K2S2, O94848, Q6PJN4, Q9BSJ8, Q9H6J1, Q9H6W2, Q9Y416

UniProtKB/TrEMBL

B3KMV5

Related

ENSP00000377612.5, ENST00000394048.10

Conserved Domains (4) summary

cd04030
Location:971 → 1096

C2C_KIAA1228; C2 domain third repeat present in uncharacterized human KIAA1228-like proteins

cd04050
Location:479 → 583

C2B_Synaptotagmin-like; C2 domain second repeat present in Synaptotagmin-like proteins

cd08391
Location:647 → 766

C2A_C2C_Synaptotagmin_like; C2 domain first and third repeat in Synaptotagmin-like proteins

pfam17047
Location:135 → 313

SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain