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    SYT17 synaptotagmin 17 [ Homo sapiens (human) ]

    Gene ID: 51760, updated on 2-Nov-2024

    Summary

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    Official Symbol
    SYT17provided by HGNC
    Official Full Name
    synaptotagmin 17provided by HGNC
    Primary source
    HGNC:HGNC:24119
    See related
    Ensembl:ENSG00000103528 AllianceGenome:HGNC:24119
    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
    Syt-17; sytXVII
    Summary
    Predicted to enable several functions, including SNARE binding activity; calcium ion binding activity; and phospholipid binding activity. Involved in positive regulation of dendrite extension and regulation of postsynaptic neurotransmitter receptor internalization. Is active in glutamatergic synapse and postsynapse. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in brain (RPKM 8.9), prostate (RPKM 3.0) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SYT17 in Genome Data Viewer
    Location:
    16p12.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (19167834..19268332)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (19098689..19198945)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (19179156..19279654)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7242 Neighboring gene ITPRIP like 2 Neighboring gene uncharacterized LOC124903657 Neighboring gene Sharpr-MPRA regulatory region 12181 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7243 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19179399-19180146 Neighboring gene uncharacterized LOC124903658 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:19195968-19196784 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:19204058-19204226 Neighboring gene C-type lectin domain containing 19A Neighboring gene uncharacterized LOC124903781

    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 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. Confirmation of prior evidence of genetic susceptibility to alcoholism in a genome-wide association study of comorbid alcoholism and bipolar disorder. Lydall GJ, et al. Psychiatr Genet, 2011 Dec. PMID 21876473, Free PMC Article
    2. Protein kinase A-dependent phosphorylation of B/K protein. Chin H, et al. Exp Mol Med, 2006 Apr 30. PMID 16672768
    3. Synaptotagmin 17 controls neurite outgrowth and synaptic physiology via distinct cellular pathways. Ruhl DA, et al. Nat Commun, 2019 Aug 6. PMID 31387992, Free PMC Article
    4. SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation. Yoo JC, et al. J Dermatol Sci, 2013 Dec. PMID 23999003
    5. A systematic analysis of human CHMP protein interactions: additional MIT domain-containing proteins bind to multiple components of the human ESCRT III complex. Tsang HT, et al. Genomics, 2006 Sep. PMID 16730941

    See all (20) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. The results suggest that B/K proteins play a role as potential substrates for PKA in the area where they are expressed.
      Title: Protein kinase A-dependent phosphorylation of B/K protein.
    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

    EBI GWAS Catalog

    Description
    Confirmation of prior evidence of genetic susceptibility to alcoholism in a genome-wide association study of comorbid alcoholism and bipolar disorder.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SNARE binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium ion sensor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables calcium-dependent phospholipid 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 cell differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of dendrite extension IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of calcium ion-dependent exocytosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of postsynaptic neurotransmitter receptor internalization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in exocytic vesicle IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in glutamatergic synapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in glutamatergic synapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in postsynapse IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in postsynapse IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in trans-Golgi network IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    synaptotagmin-17
    Names
    B/K protein
    synaptotagmin XVII

    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_001308157.2 → NP_001295086.1  synaptotagmin-17 isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' terminal exon which results in the use of an alternate start codon compared to variant 1. The encoded isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
      Source sequence(s)
      AA705977, AC003003, AC010494, AK098747
      Consensus CDS
      CCDS76835.1
      UniProtKB/TrEMBL
      B4DJB2, H3BN78
      Related
      ENSP00000454721.2, ENST00000562711.6
      Conserved Domains (2) summary
      cd08390
      Location:182 → 310
      C2A_Synaptotagmin-15-17; C2A domain first repeat present in Synaptotagmins 15 and 17
      cd08410
      Location:319 → 453
      C2B_Synaptotagmin-17; C2 domain second repeat present in Synaptotagmin 17

    2. NM_001330509.2 → NP_001317438.1  synaptotagmin-17 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' terminal exon which results in the use of a downstream start codon compared to variant 1. The encoded isoform (3) has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AA705977, AC003003, AC010494
      Consensus CDS
      CCDS81952.1
      UniProtKB/TrEMBL
      B4DJB2, H3BRH9
      Conserved Domains (2) summary
      cd08390
      Location:125 → 253
      C2A_Synaptotagmin-15-17; C2A domain first repeat present in Synaptotagmins 15 and 17
      cd08410
      Location:262 → 396
      C2B_Synaptotagmin-17; C2 domain second repeat present in Synaptotagmin 17

    3. NM_001410903.1 → NP_001397832.1  synaptotagmin-17 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC003003, AC010494
      Consensus CDS
      CCDS92119.1
      UniProtKB/TrEMBL
      H3BQZ6
      Related
      ENSP00000456009.1, ENST00000568115.5

    4. NM_016524.4 → NP_057608.2  synaptotagmin-17 isoform 1

      See identical proteins and their annotated locations for NP_057608.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA705977, AC003003, AC010494, BC004518
      Consensus CDS
      CCDS10575.1
      UniProtKB/Swiss-Prot
      O43330, Q9BSW7, Q9NZ18
      UniProtKB/TrEMBL
      B4DJB2
      Related
      ENSP00000347538.2, ENST00000355377.7
      Conserved Domains (2) summary
      cd08390
      Location:186 → 314
      C2A_Synaptotagmin-15-17; C2A domain first repeat present in Synaptotagmins 15 and 17
      cd08410
      Location:323 → 457
      C2B_Synaptotagmin-17; C2 domain second repeat present in Synaptotagmin 17

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      19167834..19268332
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047434203.1 → XP_047290159.1  synaptotagmin-17 isoform X1

    2. XM_047434206.1 → XP_047290162.1  synaptotagmin-17 isoform X7

      UniProtKB/TrEMBL
      H3BRH9

    3. XM_024450297.2 → XP_024306065.1  synaptotagmin-17 isoform X7

      UniProtKB/TrEMBL
      B4DJB2, H3BRH9
      Conserved Domains (2) summary
      cd08390
      Location:125 → 253
      C2A_Synaptotagmin-15-17; C2A domain first repeat present in Synaptotagmins 15 and 17
      cd08410
      Location:262 → 396
      C2B_Synaptotagmin-17; C2 domain second repeat present in Synaptotagmin 17

    4. XM_047434204.1 → XP_047290160.1  synaptotagmin-17 isoform X3

    5. XM_011545869.3 → XP_011544171.1  synaptotagmin-17 isoform X7

      See identical proteins and their annotated locations for XP_011544171.1

      UniProtKB/TrEMBL
      B4DJB2, H3BRH9
      Conserved Domains (2) summary
      cd08390
      Location:125 → 253
      C2A_Synaptotagmin-15-17; C2A domain first repeat present in Synaptotagmins 15 and 17
      cd08410
      Location:262 → 396
      C2B_Synaptotagmin-17; C2 domain second repeat present in Synaptotagmin 17

    6. XM_011545871.3 → XP_011544173.1  synaptotagmin-17 isoform X7

      See identical proteins and their annotated locations for XP_011544173.1

      UniProtKB/TrEMBL
      B4DJB2, H3BRH9
      Conserved Domains (2) summary
      cd08390
      Location:125 → 253
      C2A_Synaptotagmin-15-17; C2A domain first repeat present in Synaptotagmins 15 and 17
      cd08410
      Location:262 → 396
      C2B_Synaptotagmin-17; C2 domain second repeat present in Synaptotagmin 17

    7. XM_011545868.2 → XP_011544170.1  synaptotagmin-17 isoform X4

      UniProtKB/TrEMBL
      B4DJB2
      Conserved Domains (2) summary
      cd08390
      Location:180 → 308
      C2A_Synaptotagmin-15-17; C2A domain first repeat present in Synaptotagmins 15 and 17
      cd08410
      Location:317 → 451
      C2B_Synaptotagmin-17; C2 domain second repeat present in Synaptotagmin 17

    8. XM_011545872.3 → XP_011544174.1  synaptotagmin-17 isoform X7

      See identical proteins and their annotated locations for XP_011544174.1

      UniProtKB/TrEMBL
      B4DJB2, H3BRH9
      Conserved Domains (2) summary
      cd08390
      Location:125 → 253
      C2A_Synaptotagmin-15-17; C2A domain first repeat present in Synaptotagmins 15 and 17
      cd08410
      Location:262 → 396
      C2B_Synaptotagmin-17; C2 domain second repeat present in Synaptotagmin 17

    9. XM_017023280.2 → XP_016878769.1  synaptotagmin-17 isoform X5

    10. XM_047434205.1 → XP_047290161.1  synaptotagmin-17 isoform X6

    11. XM_011545866.4 → XP_011544168.1  synaptotagmin-17 isoform X2

      UniProtKB/TrEMBL
      B4DJB2
      Conserved Domains (2) summary
      cd08390
      Location:193 → 321
      C2A_Synaptotagmin-15-17; C2A domain first repeat present in Synaptotagmins 15 and 17
      cd08410
      Location:330 → 464
      C2B_Synaptotagmin-17; C2 domain second repeat present in Synaptotagmin 17

    12. XM_017023281.2 → XP_016878770.1  synaptotagmin-17 isoform X7

      UniProtKB/TrEMBL
      B4DJB2, H3BRH9
      Related
      ENSP00000456252.1, ENST00000562034.5
      Conserved Domains (2) summary
      cd08390
      Location:125 → 253
      C2A_Synaptotagmin-15-17; C2A domain first repeat present in Synaptotagmins 15 and 17
      cd08410
      Location:262 → 396
      C2B_Synaptotagmin-17; C2 domain second repeat present in Synaptotagmin 17

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      19098689..19198945
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054380451.1 → XP_054236426.1  synaptotagmin-17 isoform X1

    2. XM_054380461.1 → XP_054236436.1  synaptotagmin-17 isoform X7

      UniProtKB/TrEMBL
      H3BRH9

    3. XM_054380462.1 → XP_054236437.1  synaptotagmin-17 isoform X7

      UniProtKB/TrEMBL
      H3BRH9

    4. XM_054380453.1 → XP_054236428.1  synaptotagmin-17 isoform X3

    5. XM_054380458.1 → XP_054236433.1  synaptotagmin-17 isoform X7

      UniProtKB/TrEMBL
      H3BRH9

    6. XM_054380459.1 → XP_054236434.1  synaptotagmin-17 isoform X7

      UniProtKB/TrEMBL
      H3BRH9

    7. XM_054380454.1 → XP_054236429.1  synaptotagmin-17 isoform X4

    8. XM_054380457.1 → XP_054236432.1  synaptotagmin-17 isoform X7

      UniProtKB/TrEMBL
      H3BRH9

    9. XM_054380455.1 → XP_054236430.1  synaptotagmin-17 isoform X5

    10. XM_054380456.1 → XP_054236431.1  synaptotagmin-17 isoform X6

    11. XM_054380452.1 → XP_054236427.1  synaptotagmin-17 isoform X2

    12. XM_054380460.1 → XP_054236435.1  synaptotagmin-17 isoform X7

      UniProtKB/TrEMBL
      H3BRH9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSW7.1 GenPept UniProtKB/Swiss-Prot:Q9BSW7

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