Aliases for ESYT1 Gene

Aliases for ESYT1 Gene

  • Extended Synaptotagmin 1 2 3 5
  • MBC2 2 3 4
  • Family With Sequence Similarity 62 (C2 Domain Containing), Member A 2 3
  • Membrane-Bound C2 Domain-Containing Protein 3 4
  • Extended Synaptotagmin-1 3 4
  • KIAA0747 2 4
  • FAM62A 3 4
  • Extended Synaptotagmin-Like Protein 1 2
  • Extended Synaptotagmin Like Protein 1 3
  • Extended Synaptotagmin Protein 1 3
  • E-Syt1 4
  • ESYT1 5

External Ids for ESYT1 Gene

Previous HGNC Symbols for ESYT1 Gene

  • FAM62A

Previous GeneCards Identifiers for ESYT1 Gene

  • GC12P054810
  • GC12P056522
  • GC12P053561
  • GC12P056513
  • GC12P056536
  • GC12P056548
  • GC12P056126
  • GC12P056142
  • GC12P056162
  • GC12P056189
  • GC12P056256

Summaries for ESYT1 Gene

GeneCards Summary for ESYT1 Gene

ESYT1 (Extended Synaptotagmin 1) is a Protein Coding gene. Diseases associated with ESYT1 include Stormorken Syndrome. Among its related pathways are Sphingolipid metabolism and 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 Summary 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

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ESYT1 Gene

Genomics for ESYT1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ESYT1 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ESYT1

Genomic Locations for ESYT1 Gene

Latest Assembly
chr12:56,118,250-56,144,674
(GRCh38/hg38)
Size:
26,425 bases
Orientation:
Plus strand

Previous Assembly
chr12:56,522,051-56,538,458
(GRCh37/hg19 by Entrez Gene)
Size:
16,408 bases
Orientation:
Plus strand

chr12:56,512,034-56,538,455
(GRCh37/hg19 by Ensembl)
Size:
26,422 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; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB15268.1; Type=Erroneous initiation; Note=Truncated N-terminus.; 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 Lys118, Lys138, Lys189, Lys355, Lys546, Lys817, and Lys835
  • 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

GenScript: Design optimal peptide antigens:
  • cDNA FLJ46898 fis, clone UTERU3022168, highly similar to Protein FAM62A (B3KY56_HUMAN)
  • Membrane-bound C2 domain-containing protein (ESYT1_HUMAN)

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:0005509 calcium ion binding IBA 21873635
GO:0005515 protein binding IPI 22119785
GO:0005544 calcium-dependent phospholipid binding IBA 21873635
GO:0008289 lipid binding IEA --
GO:0008429 phosphatidylethanolamine binding IBA 21873635
genes like me logo Genes that share ontologies with ESYT1: view
genes like me logo Genes that share phenotypes with ESYT1: view

Animal Models for research

  • Taconic Biosciences Mouse Models for ESYT1

miRNA for ESYT1 Gene

miRTarBase miRNAs that target ESYT1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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 (PubMed:29469807). Recruited to sites of contact between the endoplasmic reticulum and the cell membrane in response to increased cytosolic calcium levels (PubMed:29469807, PubMed:22250200). {ECO:0000269 PubMed:22250200, ECO:0000269 PubMed:29469807}.

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 4
endoplasmic reticulum 4
cytosol 4
mitochondrion 2
peroxisome 2
nucleus 2
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 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 IDA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA,HDA 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 Nutra 6959
genes like me logo Genes that share compounds with ESYT1: view

Transcripts for ESYT1 Gene

mRNA/cDNA for ESYT1 Gene

2 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for ESYT1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Liver(4.5)
  • Blood(4.4)
  • Lung(2.7)
  • Intestine(2.6)
  • Muscle(2.6)
  • Pancreas(2.5)
  • Heart(2.3)
  • Skin(2.2)
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 29 30
  • 99.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM62A 30
  • 90 (a)
OneToOne
ESYT1 29
  • 89.68 (n)
Rat
(Rattus norvegicus)
Mammalia Esyt1 29
  • 85.63 (n)
Mouse
(Mus musculus)
Mammalia Esyt1 29 16 30
  • 85.26 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ESYT1 29 30
  • 85.07 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ESYT1 30
  • 80 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ESYT1 30
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia esyt1 29
  • 59.38 (n)
Zebrafish
(Danio rerio)
Actinopterygii esyt1a 29 30
  • 57.58 (n)
OneToMany
esyt1b 30
  • 34 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Esyt2 30
  • 30 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea esyt-2 30
  • 31 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SYTA 29
  • 43.52 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0448400 29
  • 43.77 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 33 (a)
OneToMany
Species where no ortholog for ESYT1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for ESYT1

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ESYT1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs151329688 Benign: not provided 56,128,565(+) C/G
NM_001184796.1(ESYT1):c.246C>G (p.Leu82=)
SYNONYMOUS
rs35807059 Benign: not provided 56,137,837(+) C/T
NM_001184796.1(ESYT1):c.2151C>T (p.Ile717=)
SYNONYMOUS
rs61733171 Benign: not provided 56,137,256(+) G/T
NM_001184796.1(ESYT1):c.1851G>T (p.Thr617=)
SYNONYMOUS
rs79645834 Benign: not provided 56,134,380(+) G/A
NM_001184796.1(ESYT1):c.1614G>A (p.Ala538=)
SYNONYMOUS
rs35075600 -- p.Arg764Cys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ESYT1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
ESYT1

SNP Genotyping and Copy Number Assays for research

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

Disorders for ESYT1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ESYT1 Gene - From: COP

Disorder Aliases PubMed IDs
stormorken syndrome
  • strmk
- elite association - COSMIC cancer census association via MalaCards
Search ESYT1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ESYT1

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

No data available for 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
  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
  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
  4. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PMID: 15592455) Rush J … Comb MJ (Nature biotechnology 2005) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for ESYT1 Gene

Sources for ESYT1 Gene