Format

Send to:

Choose Destination

SYT14 synaptotagmin 14 [ Homo sapiens (human) ]

Gene ID: 255928, updated on 1-Jun-2020

Summary

Official Symbol
SYT14provided by HGNC
Official Full Name
synaptotagmin 14provided by HGNC
Primary source
HGNC:HGNC:23143
See related
Ensembl:ENSG00000143469 MIM:610949
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SCAR11; sytXIV
Summary
This gene is a member of the synaptotagmin gene family and encodes a protein similar to other family members that mediate membrane trafficking in synaptic transmission. The encoded protein is a calcium-independent synaptotagmin. Mutations in this gene are a cause of autosomal recessive spinocerebellar ataxia-11 (SCAR11), and a t(1;3) translocation of this gene has been associated with neurodevelopmental abnormalities. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 4. [provided by RefSeq, Dec 2011]
Expression
Biased expression in thyroid (RPKM 3.5), testis (RPKM 1.3) and 2 other tissues See more
Orthologs

Genomic context

See SYT14 in Genome Data Viewer
Location:
1q32.2
Exon count:
13
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (209938165..210171389)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (210111519..210337636)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene UTP25 small subunit processor component Neighboring gene Sharpr-MPRA regulatory region 13960 Neighboring gene SERTAD4 antisense RNA 1 Neighboring gene SERTA domain containing 4 Neighboring gene ST13, Hsp70 interacting protein pseudogene 19

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34198, MGC163195

Gene Ontology Provided by GOA

Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
synaptotagmin-14
Names
synaptotagmin XIV

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.

Genomic

  1. NG_031962.1 RefSeqGene

    Range
    5001..231118
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146261.2NP_001139733.1  synaptotagmin-14 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AL022399, AL513263, BC130323
    Consensus CDS
    CCDS53469.1
    UniProtKB/TrEMBL
    A1L3Y1
    Conserved Domains (2) summary
    cd08389
    Location:305428
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:461617
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16
  2. NM_001146262.3NP_001139734.1  synaptotagmin-14 isoform 3

    See identical proteins and their annotated locations for NP_001139734.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an exon in the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (3) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AL022399, AL513263, BC144155, KF455151
    Consensus CDS
    CCDS53470.1
    UniProtKB/Swiss-Prot
    Q8NB59
    Related
    ENSP00000355986.1, ENST00000367019.5
    Conserved Domains (2) summary
    cd08389
    Location:260383
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:416572
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16
  3. NM_001146264.3NP_001139736.1  synaptotagmin-14 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AL022399, AL513263, BC144154, KF455151
    Conserved Domains (2) summary
    cd08389
    Location:305428
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:461598
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16
  4. NM_001256006.1NP_001242935.1  synaptotagmin-14 isoform 5

    See identical proteins and their annotated locations for NP_001242935.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two internal exons, contains an alternate internal exon in the 5' region, and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (5) is shorter than isoform 1.
    Source sequence(s)
    AJ617624, AJ617625, AL022399, AL513263
    Consensus CDS
    CCDS58058.1
    UniProtKB/Swiss-Prot
    Q8NB59
    Related
    ENSP00000437423.1, ENST00000537238.5
    Conserved Domains (2) summary
    cd08389
    Location:222345
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:378515
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16
  5. NM_153262.4NP_694994.2  synaptotagmin-14 isoform 4

    See identical proteins and their annotated locations for NP_694994.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two exons in the coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (4) is shorter and has a distinct N-terminus, compared to isoform 1.
    Source sequence(s)
    AK091517, AL022399, AL513263, KF455151
    Consensus CDS
    CCDS31014.1
    UniProtKB/Swiss-Prot
    Q8NB59
    Related
    ENSP00000418901.1, ENST00000472886.5
    Conserved Domains (2) summary
    cd08389
    Location:260383
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:416553
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16

RNA

  1. NR_027459.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) has multiple differences compared to variant 1, including the use of an alternate splice site. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 5, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AJ617625, AL022399, AL513263, KF455151
    Related
    ENST00000399639.6

RefSeqs of Annotated Genomes: Homo sapiens Updated 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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    209938165..210171389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017000935.2XP_016856424.1  synaptotagmin-14 isoform X4

  2. XM_017000932.2XP_016856421.1  synaptotagmin-14 isoform X3

  3. XM_017000933.2XP_016856422.1  synaptotagmin-14 isoform X3

  4. XM_017000934.2XP_016856423.1  synaptotagmin-14 isoform X3

  5. XM_006711262.3XP_006711325.1  synaptotagmin-14 isoform X1

    See identical proteins and their annotated locations for XP_006711325.1

    UniProtKB/TrEMBL
    A0A1B0GTZ1
    Related
    ENSP00000489897.1, ENST00000637265.1
    Conserved Domains (2) summary
    cd08389
    Location:550673
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:706862
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16
  6. XM_017000931.1XP_016856420.1  synaptotagmin-14 isoform X2

    Conserved Domains (2) summary
    cd08389
    Location:550673
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:706843
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16
Support Center