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    SYT14 synaptotagmin 14 [ Homo sapiens (human) ]

    Gene ID: 255928, updated on 27-Nov-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    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

    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

    Preferred Names
    synaptotagmin-14
    Names
    synaptotagmin XIV

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001146261.4NP_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: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_001146262.4NP_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: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_001146264.4NP_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: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_001256006.3NP_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: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_001397544.1NP_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: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
    6. NM_001397545.1NP_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: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
    7. NM_153262.5NP_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: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: 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_047417067.1XP_047273023.1  synaptotagmin-14 isoform X4

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

      UniProtKB/TrEMBL
      A0A0A0MTK4
    3. XM_047417076.1XP_047273032.1  synaptotagmin-14 isoform X6

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

      UniProtKB/TrEMBL
      A0A0A0MTK4
      Related
      ENSP00000442891.2, ENST00000534859.2
    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_017000931.2XP_016856420.1  synaptotagmin-14 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TN09
      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
    7. XM_047417063.1XP_047273019.1  synaptotagmin-14 isoform X3

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

    9. XM_047417077.1XP_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_054335802.1XP_054191777.1  synaptotagmin-14 isoform X4

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

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

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

      UniProtKB/TrEMBL
      A0A1B0GTZ1
    5. XM_054335801.1XP_054191776.1  synaptotagmin-14 isoform X2

      UniProtKB/TrEMBL
      A0A8V8TN09
    6. XM_054335805.1XP_054191780.1  synaptotagmin-14 isoform X5

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