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ESYT1 extended synaptotagmin 1 [ Homo sapiens (human) ]

Gene ID: 23344, updated on 24-Nov-2020

Summary

Official Symbol
ESYT1provided by HGNC
Official Full Name
extended synaptotagmin 1provided by HGNC
Primary source
HGNC:HGNC:29534
See related
Ensembl:ENSG00000139641 MIM:616670
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
Expression
Ubiquitous expression in fat (RPKM 71.4), lung (RPKM 26.2) and 25 other tissues See more
Orthologs

Genomic context

See ESYT1 in Genome Data Viewer
Location:
12q13.2
Exon count:
31
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (56128267..56144674)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (56521985..56547259)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L41 Neighboring gene zinc finger CCCH-type containing 10 Neighboring gene myosin light chain 6B Neighboring gene myosin light chain 6

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Potential readthrough

Included gene: ZC3H10

Homology

Clone Names

  • KIAA0747

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 
identical protein binding IPI
Inferred from Physical Interaction
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
 
Component Evidence Code Pubs
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
extrinsic component of cytoplasmic side of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
intrinsic component of endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane HDA PubMed 

General protein information

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)

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_001184796.2NP_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/Swiss-Prot
    Q9BSJ8
    UniProtKB/TrEMBL
    A0A024RB16
    Related
    ENSP00000267113.4, ENST00000267113.4
    Conserved Domains (4) summary
    cd04030
    Location:9811106
    C2C_KIAA1228; C2 domain third repeat present in uncharacterized human KIAA1228-like proteins
    cd04050
    Location:479593
    C2B_Synaptotagmin-like; C2 domain second repeat present in Synaptotagmin-like proteins
    cd08391
    Location:657776
    C2A_C2C_Synaptotagmin_like; C2 domain first and third repeat in Synaptotagmin-like proteins
    pfam17047
    Location:135313
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain
  2. NM_015292.3NP_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
    Q9BSJ8
    UniProtKB/TrEMBL
    A0A024RB17
    Related
    ENSP00000377612.5, ENST00000394048.9
    Conserved Domains (4) summary
    cd04030
    Location:9711096
    C2C_KIAA1228; C2 domain third repeat present in uncharacterized human KIAA1228-like proteins
    cd04050
    Location:479583
    C2B_Synaptotagmin-like; C2 domain second repeat present in Synaptotagmin-like proteins
    cd08391
    Location:647766
    C2A_C2C_Synaptotagmin_like; C2 domain first and third repeat in Synaptotagmin-like proteins
    pfam17047
    Location:135313
    SMP_LBD; Synaptotagmin-like mitochondrial-lipid-binding domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

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