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SYT14 synaptotagmin 14 [ Homo sapiens (human) ]

Gene ID: 255928, updated on 3-Apr-2024

Summary

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Official Symbol
SYT14provided by HGNC
Official Full Name
synaptotagmin 14provided by HGNC
Primary source
HGNC:HGNC:23143
See related
Ensembl:ENSG00000143469 MIM:610949; AllianceGenome:HGNC:23143
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
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Genomic context

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See SYT14 in Genome Data Viewer
Location:
1q32.2
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (209938217..210171389)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (209177068..209410005)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (210111562..210344734)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr1:209979409-209979752 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_2681 Neighboring gene VISTA enhancer hs932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2477 Neighboring gene Sharpr-MPRA regulatory region 1786 Neighboring gene interferon regulatory factor 6 Neighboring gene UTP25 small subunit processome component Neighboring gene NANOG hESC enhancer GRCh37_chr1:210048900-210049401 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:210068740-210069939 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:210071837-210072364 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_2736 Neighboring gene Sharpr-MPRA regulatory region 13960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:210166703-210167203 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_2861 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_2872 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_2922 Neighboring gene NANOG hESC enhancer GRCh37_chr1:210284477-210284996 Neighboring gene MPRA-validated peak677 silencer Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_2948 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:210406019-210406552 Neighboring gene SERTAD4 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:210411491-210412001 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:210424713-210425268 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:210425824-210426378 Neighboring gene Sharpr-MPRA regulatory region 1241 Neighboring gene SERTA domain containing 4 Neighboring gene ST13, Hsp70 interacting protein pseudogene 19

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. RNAi-mediated SYT14 knockdown inhibits the growth of human glioma cell line U87MG. Sheng B, et al. Brain Res Bull, 2018 Jun. PMID 29634997
  2. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Doi H, et al. Am J Hum Genet, 2011 Aug 12. PMID 21835308, Free PMC Article
  3. Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities. Quintero-Rivera F, et al. Am J Med Genet A, 2007 Mar 15. PMID 17304550
  4. Recent advances in the genetics of cerebellar ataxias. Sailer A, et al. Curr Neurol Neurosci Rep, 2012 Jun. PMID 22527681
  5. Genetics of dizziness: cerebellar and vestibular disorders. Requena T, et al. Curr Opin Neurol, 2014 Feb. PMID 24275721

See all (15) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. SYT14 mRNA expression was detected in the three glioma cell lines, and was highest in the U87MG cell line. The RNAi-mediated knockdown of SYT14 significantly decreased cell proliferation and colony formation in U87MG cells, and caused a moderate increase in apoptosis. Fewer S phase cells and more G2/M phase cells were observed.
    Title: RNAi-mediated SYT14 knockdown inhibits the growth of human glioma cell line U87MG.
  2. Whole-exome and targeted sequencing have defined the genetic basis of dizziness including new genes causing ataxia: GBA2, TGM6, ANO10 and SYT14
    Title: Genetics of dizziness: cerebellar and vestibular disorders.
  3. New DNA sequencing technologies are enabling us to investigate the whole or large targeted proportions of the genome in a rapid, affordable, and comprehensive way. Exome and targeted sequencing SYT14 genes causing ataxia.
    Title: Recent advances in the genetics of cerebellar ataxias.
  4. A homozygous missense mutation in SYT14, encoding synaptotagmin XIV was identified in a Japanese family in which two siblings have slow progression of a type of autosomal-recessive cerebellar ataxias.
    Title: Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation.
  5. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  6. Constitutional rearrangement of SYT14 may contribute to macrocephaly, cerebral atrophy, seizures and developmental delay.
    Title: Disruption of a synaptotagmin (SYT14) associated with neurodevelopmental abnormalities.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal recessive spinocerebellar ataxia 11
MedGen: C5190803 OMIM: 614229 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ34198, MGC163195

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables phospholipid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
synaptotagmin-14
Names
synaptotagmin XIV

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.

Genomic

  1. NG_031962.2 RefSeqGene

    Range
    5002..238100
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001146261.4 → NP_001139733.1  synaptotagmin-14 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AL022397, AL022399, AL513263, KF455151
    UniProtKB/TrEMBL
    A1L3Y1
    Conserved Domains (2) summary
    cd08389
    Location:305 → 428
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:461 → 617
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16

  2. NM_001146262.4 → NP_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)
    AL022397, AL022399, AL513263, KF455151
    Consensus CDS
    CCDS53470.1
    UniProtKB/TrEMBL
    A1L3Y1
    Related
    ENSP00000355986.1, ENST00000367019.6
    Conserved Domains (2) summary
    cd08389
    Location:260 → 383
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:416 → 572
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16

  3. NM_001146264.4 → NP_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)
    AL022397, AL022399, AL513263, KF455151
    UniProtKB/TrEMBL
    A1L3Y1
    Conserved Domains (2) summary
    cd08389
    Location:305 → 428
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:461 → 598
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16

  4. NM_001256006.3 → NP_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)
    AL022397, AL022399, AL513263, KF455151
    Consensus CDS
    CCDS58058.1
    UniProtKB/TrEMBL
    A0A0A0MTK4
    Related
    ENSP00000437423.1, ENST00000537238.5
    Conserved Domains (2) summary
    cd08389
    Location:222 → 345
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:378 → 515
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16

  5. NM_001397544.1 → NP_001384473.1  synaptotagmin-14 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL022397, AL022399, AL513263, KF455151
    Consensus CDS
    CCDS91157.1
    UniProtKB/TrEMBL
    A0A8V8TN09
    Conserved Domains (2) summary
    cd08389
    Location:550 → 673
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:706 → 843
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16

  6. NM_001397545.1 → NP_001384474.1  synaptotagmin-14 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL022397, AL022399, AL513263, KF455151
    Consensus CDS
    CCDS91157.1
    UniProtKB/TrEMBL
    A0A8V8TN09
    Related
    ENSP00000514275.1, ENST00000699295.1
    Conserved Domains (2) summary
    cd08389
    Location:550 → 673
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:706 → 843
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16

  7. NM_153262.5 → NP_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)
    AL022397, AL022399, AL513263, KF455151
    Consensus CDS
    CCDS31014.1
    UniProtKB/Swiss-Prot
    B1AJU0, B1AJU1, F5H426, Q5THX7, Q707N3, Q707N4, Q707N5, Q707N6, Q707N7, Q8NB59
    UniProtKB/TrEMBL
    A1L3Y1
    Related
    ENSP00000418901.1, ENST00000472886.5
    Conserved Domains (2) summary
    cd08389
    Location:260 → 383
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:416 → 553
    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: 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_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    209938217..210171389
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047417067.1 → XP_047273023.1  synaptotagmin-14 isoform X4

  2. XM_017000933.3 → XP_016856422.1  synaptotagmin-14 isoform X4

    UniProtKB/TrEMBL
    A0A0A0MTK4

  3. XM_047417076.1 → XP_047273032.1  synaptotagmin-14 isoform X6

  4. XM_017000934.2 → XP_016856423.1  synaptotagmin-14 isoform X4

    UniProtKB/TrEMBL
    A0A0A0MTK4
    Related
    ENSP00000442891.2, ENST00000534859.2

  5. XM_006711262.3 → XP_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:550 → 673
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:706 → 862
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16

  6. XM_017000931.2 → XP_016856420.1  synaptotagmin-14 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TN09
    Conserved Domains (2) summary
    cd08389
    Location:550 → 673
    C2A_Synaptotagmin-14_16; C2A domain first repeat present in Synaptotagmins 14 and 16
    cd08408
    Location:706 → 843
    C2B_Synaptotagmin-14_16; C2 domain second repeat present in Synaptotagmins 14 and 16

  7. XM_047417063.1 → XP_047273019.1  synaptotagmin-14 isoform X3

  8. XM_047417075.1 → XP_047273031.1  synaptotagmin-14 isoform X5

  9. XM_047417077.1 → XP_047273033.1  synaptotagmin-14 isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    209177068..209410005
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335802.1 → XP_054191777.1  synaptotagmin-14 isoform X4

  2. XM_054335803.1 → XP_054191778.1  synaptotagmin-14 isoform X4

  3. XM_054335804.1 → XP_054191779.1  synaptotagmin-14 isoform X4

  4. XM_054335800.1 → XP_054191775.1  synaptotagmin-14 isoform X1

    UniProtKB/TrEMBL
    A0A1B0GTZ1

  5. XM_054335801.1 → XP_054191776.1  synaptotagmin-14 isoform X2

    UniProtKB/TrEMBL
    A0A8V8TN09

  6. XM_054335805.1 → XP_054191780.1  synaptotagmin-14 isoform X5

  7. XM_054335806.1 → XP_054191781.1  synaptotagmin-14 isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8NB59.2 GenPept UniProtKB/Swiss-Prot:Q8NB59

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