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    SYT14 synaptotagmin 14 [ Homo sapiens (human) ]

    Gene ID: 255928, updated on 27-Nov-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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (209938217..210171389)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (209177068..209410005)
    RS_2024_09 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
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    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_2024_08

    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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