The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SHD functions as a binding site for Rab27A, which plays a role in protein transport. Expression of this gene is restricted to placenta and liver, suggesting that it might be involved... See more...

Aliases for SYTL5 Gene

Aliases for SYTL5 Gene

  • Synaptotagmin Like 5 2 3 5
  • Synaptotagmin-Like Protein 5 3 4
  • Exophilin 9 2 3
  • Synaptotagmin-Like 5 2
  • Slp5 3
  • SLP5 4

External Ids for SYTL5 Gene

Previous GeneCards Identifiers for SYTL5 Gene

  • GC0XP035998
  • GC0XP036180
  • GC0XP036737
  • GC0XP036924
  • GC0XP036923
  • GC0XP037622
  • GC0XP037750
  • GC0XP037778
  • GC0XP037865
  • GC0XP035611
  • GC0XP038006

Summaries for SYTL5 Gene

Entrez Gene Summary for SYTL5 Gene

  • The protein encoded by this gene belongs to the synaptotagmin-like (Slp) protein family, which contains a unique homology domain at the N-terminus, referred to as the Slp homology domain (SHD). The SHD functions as a binding site for Rab27A, which plays a role in protein transport. Expression of this gene is restricted to placenta and liver, suggesting that it might be involved in Rab27A-dependent membrane trafficking in specific tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

GeneCards Summary for SYTL5 Gene

SYTL5 (Synaptotagmin Like 5) is a Protein Coding gene. Diseases associated with SYTL5 include Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To. Among its related pathways are wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF) and Deregulation of Rab and Rab Effector Genes in Bladder Cancer. Gene Ontology (GO) annotations related to this gene include calcium ion binding and syntaxin binding. An important paralog of this gene is SYTL4.

UniProtKB/Swiss-Prot Summary for SYTL5 Gene

  • May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids.

Additional gene information for SYTL5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SYTL5 Gene

Genomics for SYTL5 Gene

GeneHancer (GH) Regulatory Elements for SYTL5 Gene

Promoters and enhancers for SYTL5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ037904 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 -0.2 -247 2 ZNF217 FOS CTCF ZIC2 ZBTB10 CLOCK ZBTB26 TRIM28 RFX1 CTBP1 ENSG00000259977 SYTL5 RNU6-49P lnc-CYBB-1 ENSG00000250349
GH0XJ038005 Promoter/Enhancer 0.9 EPDnew ENCODE 505.7 +100.3 100337 1.3 ZNF217 TRIM28 CTBP1 NCOR1 TAL1 KLF9 FOXA1 DPF2 ATF4 GATA3 SYTL5 piR-46501-102 RF01061-192 ENSG00000250349
GH0XJ038089 Promoter 0.7 EPDnew 504.5 +183.5 183486 0.1 FOXA2 FOSL1 JUND RXRA HNF4A SETDB1 SP1 YY1 SYTL5 RF00951-165 lnc-RPGR-4 ENSG00000250349
GH0XJ038096 Promoter 0.6 EPDnew 500.1 +190.1 190085 0.1 FOS FOSL1 JUND TRIM28 SYTL5 RF00951-165 lnc-RPGR-4 ENSG00000250349
GH0XJ038061 Enhancer 1.1 Ensembl ENCODE 9.8 +155.6 155632 1.4 ZSCAN5C JUND FOS ZNF639 ZNF354C ZNF10 ZIC2 TRIM28 KLF7 ZNF662 TSPAN7 SYTL5 RF00951-165 MIR548AJ2 ENSG00000250349
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SYTL5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SYTL5

Top Transcription factor binding sites by QIAGEN in the SYTL5 gene promoter:
  • aMEF-2
  • CUTL1
  • Evi-1
  • HOXA9
  • HOXA9B
  • MEF-2A
  • Meis-1
  • Meis-1b
  • Pax-3

Genomic Locations for SYTL5 Gene

Genomic Locations for SYTL5 Gene
chrX:37,906,068-38,129,294
(GRCh38/hg38)
Size:
223,227 bases
Orientation:
Plus strand
chrX:37,865,835-37,988,073
(GRCh37/hg19)
Size:
122,239 bases
Orientation:
Plus strand

Genomic View for SYTL5 Gene

Genes around SYTL5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SYTL5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SYTL5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SYTL5 Gene

Proteins for SYTL5 Gene

  • Protein details for SYTL5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TDW5-SYTL5_HUMAN
    Recommended name:
    Synaptotagmin-like protein 5
    Protein Accession:
    Q8TDW5
    Secondary Accessions:
    • A2RRF2

    Protein attributes for SYTL5 Gene

    Size:
    730 amino acids
    Molecular mass:
    81523 Da
    Quaternary structure:
    • Binds RAB27A that has been activated by GTP-binding, and possibly also RAB3A and RAB6A.

    Alternative splice isoforms for SYTL5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SYTL5 Gene

Post-translational modifications for SYTL5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for SYTL5 Gene

Domains & Families for SYTL5 Gene

Gene Families for SYTL5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for SYTL5 Gene

Suggested Antigen Peptide Sequences for SYTL5 Gene

GenScript: Design optimal peptide antigens:
  • Synaptotagmin-like protein 5 (SYTL5_HUMAN)
genes like me logo Genes that share domains with SYTL5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SYTL5 Gene

Function for SYTL5 Gene

Molecular function for SYTL5 Gene

UniProtKB/Swiss-Prot Function:
May act as Rab effector protein and play a role in vesicle trafficking. Binds phospholipids.

Phenotypes From GWAS Catalog for SYTL5 Gene

Gene Ontology (GO) - Molecular Function for SYTL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12051743
GO:0005543 phospholipid binding IEA --
GO:0017137 Rab GTPase binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with SYTL5: view
genes like me logo Genes that share phenotypes with SYTL5: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for SYTL5 Gene

Localization for SYTL5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SYTL5 Gene

Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SYTL5 gene
Compartment Confidence
nucleus 3
cytosol 3
cytoskeleton 2
plasma membrane 1
extracellular 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Microtubules (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SYTL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0070382 exocytic vesicle IBA 21873635
genes like me logo Genes that share ontologies with SYTL5: view

Pathways & Interactions for SYTL5 Gene

PathCards logo

SuperPathways for SYTL5 Gene

genes like me logo Genes that share pathways with SYTL5: view

Pathways by source for SYTL5 Gene

1 GeneGo (Thomson Reuters) pathway for SYTL5 Gene
  • wtCFTR and deltaF508 traffic / Late endosome and Lysosome (norm and CF)

Gene Ontology (GO) - Biological Process for SYTL5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA --
GO:0006887 exocytosis IEA --
genes like me logo Genes that share ontologies with SYTL5: view

No data available for SIGNOR curated interactions for SYTL5 Gene

Drugs & Compounds for SYTL5 Gene

(1) Drugs for SYTL5 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with SYTL5: view

Transcripts for SYTL5 Gene

mRNA/cDNA for SYTL5 Gene

3 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SYTL5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
SP1: -
SP2: - -
SP3: -

Relevant External Links for SYTL5 Gene

GeneLoc Exon Structure for
SYTL5

Expression for SYTL5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SYTL5 Gene

mRNA differential expression in normal tissues according to GTEx for SYTL5 Gene

This gene is overexpressed in Brain - Hippocampus (x6.3), Brain - Nucleus accumbens (basal ganglia) (x6.2), Brain - Caudate (basal ganglia) (x5.0), Brain - Amygdala (x4.6), Brain - Hypothalamus (x4.5), and Brain - Putamen (basal ganglia) (x4.4).

Protein differential expression in normal tissues from HIPED for SYTL5 Gene

This gene is overexpressed in Nasal epithelium (67.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SYTL5 Gene



Protein tissue co-expression partners for SYTL5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SYTL5

SOURCE GeneReport for Unigene cluster for SYTL5 Gene:

Hs.662334

mRNA Expression by UniProt/SwissProt for SYTL5 Gene:

Q8TDW5-SYTL5_HUMAN
Tissue specificity: Highly expressed in placenta and liver.
genes like me logo Genes that share expression patterns with SYTL5: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for SYTL5 Gene

Orthologs for SYTL5 Gene

This gene was present in the common ancestor of animals.

Orthologs for SYTL5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SYTL5 31 30
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SYTL5 31 30
  • 90.2 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SYTL5 31 30
  • 88.3 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sytl5 17 31 30
  • 86.06 (n)
rat
(Rattus norvegicus)
Mammalia Sytl5 30
  • 85.57 (n)
oppossum
(Monodelphis domestica)
Mammalia SYTL5 31
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SYTL5 31
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves SYTL5 31 30
  • 71.05 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SYTL5 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sytl5 30
  • 59.44 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398672 30
zebrafish
(Danio rerio)
Actinopterygii sytl5 31 30
  • 58.71 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG7343 32
  • 39 (a)
Species where no ortholog for SYTL5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SYTL5 Gene

ENSEMBL:
Gene Tree for SYTL5 (if available)
TreeFam:
Gene Tree for SYTL5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SYTL5: view image

Paralogs for SYTL5 Gene

(2) SIMAP similar genes for SYTL5 Gene using alignment to 1 proteins:

  • SYTL5_HUMAN
genes like me logo Genes that share paralogs with SYTL5: view

Variants for SYTL5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SYTL5 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs1569148952 Pathogenic: Short stature 37,991,159(+) TTG/T FRAMESHIFT_VARIANT
rs4827331 - p.Ile275Val
rs57226394 - p.Arg302Cys

Additional dbSNP identifiers (rs#s) for SYTL5 Gene

Structural Variations from Database of Genomic Variants (DGV) for SYTL5 Gene

Variant ID Type Subtype PubMed ID
dgv2277e212 CNV loss 25503493
esv2752323 CNV gain 17911159
esv3558795 CNV deletion 23714750
nsv518029 CNV gain 19592680
nsv519012 CNV gain 19592680

Variation tolerance for SYTL5 Gene

Residual Variation Intolerance Score: 83.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.30; 62.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SYTL5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SYTL5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SYTL5 Gene

Disorders for SYTL5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SYTL5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
ornithine transcarbamylase deficiency, hyperammonemia due to
  • ornithine carbamoyltransferase deficiency
- elite association - COSMIC cancer census association via MalaCards
Search SYTL5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for SYTL5

genes like me logo Genes that share disorders with SYTL5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for SYTL5 Gene

Publications for SYTL5 Gene

  1. Rab27a regulates epithelial sodium channel (ENaC) activity through synaptotagmin-like protein (SLP-5) and Munc13-4 effector mechanism. (PMID: 16630545) Saxena SK … Fukuda M (Biochemical and biophysical research communications 2006) 3 23 54
  2. Synaptotagmin-like protein 5: a novel Rab27A effector with C-terminal tandem C2 domains. (PMID: 12051743) Kuroda TS … Mikoshiba K (Biochemical and biophysical research communications 2002) 3 4 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 54
  5. Genetic variants associated with disordered eating. (PMID: 23568457) Wade TD … Martin NG (The International journal of eating disorders 2013) 3 54

Products for SYTL5 Gene

  • Signalway ELISA kits for SYTL5
  • Signalway Proteins for SYTL5

Sources for SYTL5 Gene