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ESYT3 extended synaptotagmin 3 [ Homo sapiens (human) ]

Gene ID: 83850, updated on 23-Nov-2023

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; AllianceGenome:HGNC:24295
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
Summary
Predicted to enable calcium ion binding activity and phospholipid binding activity. Predicted to be involved in endoplasmic reticulum-plasma membrane tethering and lipid transport. Located in endoplasmic reticulum-plasma membrane contact site. Is extrinsic component of cytoplasmic side of plasma membrane; integral component of plasma membrane; and intrinsic component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in lung (RPKM 3.7), thyroid (RPKM 3.1) and 8 other tissues See more
Orthologs
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Genomic context

See ESYT3 in Genome Data Viewer
Location:
3q22.3
Exon count:
25
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (138434616..138481686)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (141175169..141222247)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (138153458..138200528)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:138066933-138067888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138078932-138079766 Neighboring gene MPRA-validated peak4844 silencer Neighboring gene muscle RAS oncogene homolog Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138131466-138131966 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138131967-138132467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:138158533-138159312 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:138159313-138160093 Neighboring gene centrosomal protein 70 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14765 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20604 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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 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 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 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)

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

    Status: VALIDATED

    Source sequence(s)
    AC022497, BM668912
    Consensus CDS
    CCDS3101.2
    UniProtKB/Swiss-Prot
    A0FGR9, A8K0G5, Q6ZV21, Q8NDZ5, Q9BQR9
    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, A8K0G5, Q6ZV21, Q8NDZ5, Q9BQR9
    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_136409.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC022497, BM668912

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    138434616..138481686
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449050.1XP_047305006.1  extended synaptotagmin-3 isoform X1

  2. XM_047449051.1XP_047305007.1  extended synaptotagmin-3 isoform X3

  3. XM_047449052.1XP_047305008.1  extended synaptotagmin-3 isoform X3

    Related
    ENSP00000417388.1, ENST00000490835.5
  4. XM_017007307.2XP_016862796.1  extended synaptotagmin-3 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    141175169..141222247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348061.1XP_054204036.1  extended synaptotagmin-3 isoform X1

  2. XM_054348063.1XP_054204038.1  extended synaptotagmin-3 isoform X3

  3. XM_054348064.1XP_054204039.1  extended synaptotagmin-3 isoform X3

  4. XM_054348062.1XP_054204037.1  extended synaptotagmin-3 isoform X2