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SYT17 synaptotagmin 17 [ Homo sapiens (human) ]

Gene ID: 51760, updated on 27-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
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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
  • 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)

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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