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ESYT3 extended synaptotagmin 3 [ Homo sapiens (human) ]

Gene ID: 83850, updated on 17-Jun-2019

Summary

Official Symbol
ESYT3provided by HGNC
Official Full Name
extended synaptotagmin 3provided by HGNC
Primary source
HGNC:HGNC:24295
See related
Ensembl:ENSG00000158220 MIM:616692
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
E-Syt3; FAM62C; CHR3SYT
Expression
Biased expression in lung (RPKM 3.7), thyroid (RPKM 3.1) and 8 other tissues See more
Orthologs

Genomic context

See ESYT3 in Genome Data Viewer
Location:
3q22.3
Exon count:
21
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (138434573..138481686)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (138153415..138197910)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene muscle RAS oncogene homolog Neighboring gene uncharacterized LOC105374129 Neighboring gene centrosomal protein 70 Neighboring gene Fas apoptotic inhibitory molecule

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Glycosphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Glycosphingolipid metabolism, organism-specific biosystemThe steps involved in the synthesis of glycosphingolipids (sphingolipids with one or more sugars attached) are annotated here (Gault et al. 2010).
  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Sphingolipid metabolism, organism-specific biosystem (from REACTOME)
    Sphingolipid metabolism, organism-specific biosystemSphingolipids are derivatives of long chain sphingoid bases such as sphingosine (trans-1,3-dihydroxy 2-amino-4-octadecene), an 18-carbon unsaturated amino alcohol which is the most abundant sphingoid...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium-dependent phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylcholine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylethanolamine binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
endoplasmic reticulum-plasma membrane tethering IEA
Inferred from Electronic Annotation
more info
 
glycosphingolipid metabolic process TAS
Traceable Author Statement
more info
 
lipid transport IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
extended synaptotagmin-3
Names
chr3 synaptotagmin
extended synaptotagmin protein 3
family with sequence similarity 62 (C2 domain containing), member C

NCBI Reference Sequences (RefSeq)

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_001322831.2NP_001309760.1  extended synaptotagmin-3 isoform a

    Status: VALIDATED

    Source sequence(s)
    AC022497, BM668912
    Consensus CDS
    CCDS3101.2
    UniProtKB/Swiss-Prot
    A0FGR9
    Conserved Domains (4) summary
    cd04030
    Location:755879
    C2C_KIAA1228; C2 domain third repeat present in uncharacterized human KIAA1228-like proteins
    cd04050
    Location:445568
    C2B_Synaptotagmin-like; C2 domain second repeat present in Synaptotagmin-like proteins
    cd08391
    Location:306424
    C2A_C2C_Synaptotagmin_like; C2 domain first and third repeat in Synaptotagmin-like proteins
    pfam17047
    Location:114290
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain
  2. NM_001322834.2NP_001309763.1  extended synaptotagmin-3 isoform b

    Status: VALIDATED

    Source sequence(s)
    AC022497, BM668912
    Conserved Domains (4) summary
    cd04030
    Location:755874
    C2C_KIAA1228; C2 domain third repeat present in uncharacterized human KIAA1228-like proteins
    cd04050
    Location:445568
    C2B_Synaptotagmin-like; C2 domain second repeat present in Synaptotagmin-like proteins
    cd08391
    Location:306424
    C2A_C2C_Synaptotagmin_like; C2 domain first and third repeat in Synaptotagmin-like proteins
    pfam17047
    Location:114290
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain
  3. NM_031913.5NP_114119.2  extended synaptotagmin-3 isoform a

    See identical proteins and their annotated locations for NP_114119.2

    Status: VALIDATED

    Source sequence(s)
    AC022497, AJ697972, AW513592, BM668912, DA726011, DQ993202
    Consensus CDS
    CCDS3101.2
    UniProtKB/Swiss-Prot
    A0FGR9
    Related
    ENSP00000374218.4, ENST00000389567.9
    Conserved Domains (4) summary
    cd04030
    Location:755879
    C2C_KIAA1228; C2 domain third repeat present in uncharacterized human KIAA1228-like proteins
    cd04050
    Location:445568
    C2B_Synaptotagmin-like; C2 domain second repeat present in Synaptotagmin-like proteins
    cd08391
    Location:306424
    C2A_C2C_Synaptotagmin_like; C2 domain first and third repeat in Synaptotagmin-like proteins
    pfam17047
    Location:114290
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

RNA

  1. NR_136409.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC022497, BM668912

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    138434573..138481686
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017007307.1XP_016862796.1  extended synaptotagmin-3 isoform X1

RNA

  1. XR_002959598.1 RNA Sequence

  2. XR_001740315.2 RNA Sequence

  3. XR_001740316.2 RNA Sequence

  4. XR_001740317.2 RNA Sequence

  5. XR_001740313.2 RNA Sequence

  6. XR_001740312.2 RNA Sequence

  7. XR_001740314.2 RNA Sequence

  8. XR_001740310.2 RNA Sequence

  9. XR_427381.2 RNA Sequence

  10. XR_001740311.2 RNA Sequence

  11. XR_001740318.2 RNA Sequence

    Related
    ENST00000490835.5
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