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ESYT1 extended synaptotagmin 1 [ Homo sapiens (human) ]

Gene ID: 23344, updated on 3-Nov-2024

Summary

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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, Nov 2024]
Expression
Ubiquitous expression in fat (RPKM 71.4), lung (RPKM 26.2) and 25 other tissues See more
Orthologs
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Genomic context

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See ESYT1 in Genome Data Viewer
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_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4544 Neighboring gene ribosomal protein L41 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:56514939-56515936 Neighboring gene zinc finger CCCH-type containing 10 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6472 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56521723-56522384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6474 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6475 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr12:56536437-56537636 Neighboring gene uncharacterized LOC124902943 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6476 Neighboring gene uncharacterized LOC124902942 Neighboring gene MYL6B antisense RNA 1 Neighboring gene myosin light chain 6B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6477 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6478 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6479 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56554412-56555034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:56555035-56555655 Neighboring gene myosin light chain 6

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Ca(2+) releases E-Syt1 autoinhibition to couple ER-plasma membrane tethering with lipid transport. Bian X, et al. EMBO J, 2018 Jan 17. PMID 29222176, Free PMC Article
  2. PERK recruits E-Syt1 at ER-mitochondria contacts for mitochondrial lipid transport and respiration. Sassano ML, et al. J Cell Biol, 2023 Mar 6. PMID 36821088, Free PMC Article
  3. E-syt1 Re-arranges STIM1 Clusters to Stabilize Ring-shaped ER-PM Contact Sites and Accelerate Ca(2+) Store Replenishment. Kang F, et al. Sci Rep, 2019 Mar 8. PMID 30850711, Free PMC Article
  4. A novel microscopy-based assay identifies extended synaptotagmin-1 (ESYT1) as a positive regulator of anoctamin 1 traffic. Lérias JR, et al. Biochim Biophys Acta Mol Cell Res, 2018 Feb. PMID 29154949
  5. The oncogenic lung cancer fusion kinase CD74-ROS activates a novel invasiveness pathway through E-Syt1 phosphorylation. Jun HJ, et al. Cancer Res, 2012 Aug 1. PMID 22659450, Free PMC Article

See all (147) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Potential readthrough

Included gene: ZC3H10

Homology

Clone Names

  • KIAA0747

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 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)

  1. 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

  2. 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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    56128267..56144674
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    56095865..56112273
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BSJ8.1 GenPept UniProtKB/Swiss-Prot:Q9BSJ8

Gene LinkOut

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