Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ESYT1 Gene

Aliases for ESYT1 Gene

  • Extended Synaptotagmin 1 2 3 5
  • Family With Sequence Similarity 62 (C2 Domain Containing), Member A 2 3
  • Membrane-Bound C2 Domain-Containing Protein 3 4
  • FAM62A 3 4
  • MBC2 3 4
  • Extended Synaptotagmin Like Protein 1 3
  • Extended Synaptotagmin-Like Protein 1 2
  • Extended Synaptotagmin Protein 1 3
  • Extended Synaptotagmin-1 3
  • KIAA0747 4
  • E-Syt1 4

External Ids for ESYT1 Gene

Previous HGNC Symbols for ESYT1 Gene

  • FAM62A

Previous GeneCards Identifiers for ESYT1 Gene

  • GC12P054810
  • GC12P056522
  • GC12P053561
  • GC12P056513
  • GC12P056536
  • GC12P056548

Summaries for ESYT1 Gene

GeneCards Summary for ESYT1 Gene

ESYT1 (Extended Synaptotagmin 1) is a Protein Coding gene. Among its related pathways are Metabolism and Sphingolipid metabolism. Gene Ontology (GO) annotations related to this gene include lipid binding and phospholipid binding. An important paralog of this gene is ESYT2.

UniProtKB/Swiss-Prot for ESYT1 Gene

  • Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Binds calcium (via the C2 domains) and translocates to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels. Helps tether the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane.

Gene Wiki entry for ESYT1 Gene

Additional gene information for ESYT1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ESYT1 Gene

Genomics for ESYT1 Gene

GeneHancer (GH) Regulatory Elements for ESYT1 Gene

Promoters and enhancers for ESYT1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J056114 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 661 +0.1 74 6.8 CLOCK MLX ZFP64 DMAP1 YBX1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZC3H10 RPL41 ESYT1 ENSG00000258345 GC12M056121 PIR42205 BAZ2A NEMP1 DNAJC14 RN7SL809P
GH12J056124 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 650.4 +9.7 9746 6.2 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ENSG00000258317 ESYT1 BAZ2A NEMP1 DNAJC14 RN7SL809P ZC3H10 ZBTB39 TMEM198B SMARCC2
GH12J057109 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 28.6 +993.0 993004 3.8 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 ZNF416 ZNF143 ZNF548 MCM3 STAT6 NEMP1 EEF1AKMT3 ENSG00000257740 BAZ2A PAN2 SMARCC2 CDK4 ANKRD52 DTX3
GH12J056040 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.8 -76.3 -76251 3.3 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 RPS26 LOC105369780 BAZ2A RN7SL809P ZC3H10 STAT2 PAN2 CDK2 DNAJC14 ENSG00000258199
GH12J056220 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19.8 +104.6 104632 5.7 CLOCK MLX ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF213 E2F8 NABP2 RNF41 NEMP1 BAZ2A PAN2 DNAJC14 ZBTB39 RN7SL809P ZC3H10 PHC1P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ESYT1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for ESYT1 Gene

Genomic Locations for ESYT1 Gene
chr12:56,118,250-56,144,676
(GRCh38/hg38)
Size:
26,427 bases
Orientation:
Plus strand
chr12:56,512,034-56,538,460
(GRCh37/hg19)
Size:
26,427 bases
Orientation:
Plus strand

Genomic View for ESYT1 Gene

Genes around ESYT1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ESYT1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ESYT1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ESYT1 Gene

Proteins for ESYT1 Gene

  • Protein details for ESYT1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSJ8-ESYT1_HUMAN
    Recommended name:
    Extended synaptotagmin-1
    Protein Accession:
    Q9BSJ8
    Secondary Accessions:
    • A0FGR7
    • A8K2S2
    • O94848
    • Q6PJN4
    • Q9H6J1
    • Q9H6W2
    • Q9Y416

    Protein attributes for ESYT1 Gene

    Size:
    1104 amino acids
    Molecular mass:
    122856 Da
    Quaternary structure:
    • Interacts (phosphorylated form) with SLC2A4 (By similarity). Interacts with ESYT2 and ESYT3.
    SequenceCaution:
    • Sequence=BAB15139.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB15268.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ESYT1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ESYT1 Gene

Post-translational modifications for ESYT1 Gene

  • Phosphorylated on Ser residues in insulin-treated adipocytes (in vitro); this promotes interaction with SLC2A4.
  • Ubiquitination at Lys835, Lys817, Lys546, Lys355, isoforms=2189, isoforms=2138, and isoforms=2118
  • Modification sites at PhosphoSitePlus

Other Protein References for ESYT1 Gene

No data available for DME Specific Peptides for ESYT1 Gene

Domains & Families for ESYT1 Gene

Gene Families for ESYT1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ESYT1 Gene

Suggested Antigen Peptide Sequences for ESYT1 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BSJ8

UniProtKB/Swiss-Prot:

ESYT1_HUMAN :
  • Anchored to the endoplasmic reticulum membrane by a transmembrane hairpin structure; both N-terminus and C-terminus are cytoplasmic.
  • Belongs to the extended synaptotagmin family.
Domain:
  • Anchored to the endoplasmic reticulum membrane by a transmembrane hairpin structure; both N-terminus and C-terminus are cytoplasmic.
  • The C2 domains mediate lipid and calcium binding. The N-terminal C2 domain binds calcium ions and is important for calcium-dependent lipid binding and interaction with membranes. Two calcium ions are bound at a high-affinity site and a third calcium ion is bound with lower affinity. May bind up to four calcium ions. In contrast, the second C2 domain apparently does not bind calcium (By similarity). The third C2 domain mediates interaction with membranes enriched in phosphatidylinositol 4,5-bisphosphate and is required for translocation to the cell membrane in response to increased cytosolic calcium levels (PubMed:24183667 and PubMed:23791178).
  • The SMP-LTD domain is a barrel-like domain that can bind various types of glycerophospholipids in its interior (By similarity).
Family:
  • Belongs to the extended synaptotagmin family.
genes like me logo Genes that share domains with ESYT1: view

Function for ESYT1 Gene

Molecular function for ESYT1 Gene

UniProtKB/Swiss-Prot Function:
Binds glycerophospholipids in a barrel-like domain and may play a role in cellular lipid transport (By similarity). Binds calcium (via the C2 domains) and translocates to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels. Helps tether the endoplasmic reticulum to the cell membrane and promotes the formation of appositions between the endoplasmic reticulum and the cell membrane.

Phenotypes From GWAS Catalog for ESYT1 Gene

Gene Ontology (GO) - Molecular Function for ESYT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23791178
GO:0005543 phospholipid binding IBA --
GO:0008289 lipid binding IEA --
GO:0042802 identical protein binding IPI 23791178
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ESYT1: view
genes like me logo Genes that share phenotypes with ESYT1: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ESYT1

miRNA for ESYT1 Gene

miRTarBase miRNAs that target ESYT1

Clone Products

  • Addgene plasmids for ESYT1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ESYT1 Gene

Localization for ESYT1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ESYT1 Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell membrane; Peripheral membrane protein. Note=Localizes primarily to the endoplasmic reticulum. Recruited to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ESYT1 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytosol 4
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ESYT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA,IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ESYT1: view

Pathways & Interactions for ESYT1 Gene

genes like me logo Genes that share pathways with ESYT1: view

Pathways by source for ESYT1 Gene

Gene Ontology (GO) - Biological Process for ESYT1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006687 glycosphingolipid metabolic process TAS --
GO:0006869 lipid transport IEA --
GO:0061817 endoplasmic reticulum-plasma membrane tethering IEA --
genes like me logo Genes that share ontologies with ESYT1: view

No data available for SIGNOR curated interactions for ESYT1 Gene

Drugs & Compounds for ESYT1 Gene

(1) Drugs for ESYT1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with ESYT1: view

Transcripts for ESYT1 Gene

mRNA/cDNA for ESYT1 Gene

Unigene Clusters for ESYT1 Gene

Extended synaptotagmin-like protein 1:
Representative Sequences:

Clone Products

  • Addgene plasmids for ESYT1

Alternative Splicing Database (ASD) splice patterns (SP) for ESYT1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^
SP1: - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:

ExUns: 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30 ^ 31
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for ESYT1 Gene

GeneLoc Exon Structure for
ESYT1
ECgene alternative splicing isoforms for
ESYT1

Expression for ESYT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ESYT1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ESYT1 Gene

This gene is overexpressed in Adipocyte (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ESYT1 Gene



Protein tissue co-expression partners for ESYT1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ESYT1 Gene:

ESYT1

SOURCE GeneReport for Unigene cluster for ESYT1 Gene:

Hs.632729

mRNA Expression by UniProt/SwissProt for ESYT1 Gene:

Q9BSJ8-ESYT1_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for ESYT1 Gene

  • Nervous system(4.9)
  • Kidney(4.5)
  • Blood(4.3)
  • Liver(4.3)
  • Lung(2.7)
  • Intestine(2.4)
genes like me logo Genes that share expression patterns with ESYT1: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ESYT1 Gene

Orthologs for ESYT1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ESYT1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ESYT1 34 33
  • 99.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FAM62A 34
  • 90 (a)
OneToOne
ESYT1 33
  • 89.68 (n)
rat
(Rattus norvegicus)
Mammalia Esyt1 33
  • 85.63 (n)
mouse
(Mus musculus)
Mammalia Esyt1 16 34 33
  • 85.26 (n)
dog
(Canis familiaris)
Mammalia ESYT1 34 33
  • 85.07 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ESYT1 34
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ESYT1 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia esyt1 33
  • 59.38 (n)
zebrafish
(Danio rerio)
Actinopterygii esyt1a 34 33
  • 57.58 (n)
OneToMany
esyt1b 34
  • 34 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Esyt2 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea esyt-2 34
  • 31 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons SYTA 33
  • 43.52 (n)
rice
(Oryza sativa)
Liliopsida Os02g0448400 33
  • 43.77 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 33 (a)
OneToMany
Species where no ortholog for ESYT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ESYT1 Gene

ENSEMBL:
Gene Tree for ESYT1 (if available)
TreeFam:
Gene Tree for ESYT1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ESYT1: view image

Paralogs for ESYT1 Gene

Paralogs for ESYT1 Gene

(2) SIMAP similar genes for ESYT1 Gene using alignment to 2 proteins:

  • ESYT1_HUMAN
  • F8VZB1_HUMAN
genes like me logo Genes that share paralogs with ESYT1: view

Variants for ESYT1 Gene

Sequence variations from dbSNP and Humsavar for ESYT1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1000041287 -- 56,138,645(+) A/G intron_variant
rs1000068915 -- 56,144,518(+) G/A 3_prime_UTR_variant
rs1000699052 -- 56,127,192(+) G/A upstream_transcript_variant
rs1000736291 -- 56,143,296(+) C/T coding_sequence_variant, missense_variant
rs1000793408 -- 56,127,518(+) T/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ESYT1 Gene

Variant ID Type Subtype PubMed ID
esv21612 CNV gain 19812545
nsv1051961 CNV gain 25217958

Variation tolerance for ESYT1 Gene

Residual Variation Intolerance Score: 5.22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.07; 50.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ESYT1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ESYT1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ESYT1 Gene

Disorders for ESYT1 Gene

Additional Disease Information for ESYT1

No disorders were found for ESYT1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ESYT1 Gene

Publications for ESYT1 Gene

  1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 58
  2. PI(4,5)P(2)-dependent and Ca(2+)-regulated ER-PM interactions mediated by the extended synaptotagmins. (PMID: 23791178) Giordano F … De Camilli P (Cell 2013) 3 4 58
  3. Evolutionary genomics of plant genes encoding N-terminal-TM-C2 domain proteins and the similar FAM62 genes and synaptotagmin genes of metazoans. (PMID: 17672888) Craxton M (BMC genomics 2007) 2 3 58
  4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J … Comb MJ (Nature biotechnology 2005) 3 4 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for ESYT1 Gene

Sources for ESYT1 Gene