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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
    mouse all
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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. 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
    4. 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
    5. Cloning and preliminary characterization of a 121 kDa protein with multiple predicted C2 domains. Morris NJ, et al. Biochim Biophys Acta, 1999 May 18. PMID 10350628

    See all (144) 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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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