Human Gene SYTL1 (uc001bnw.2)
  Description: Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr1:27,668,483-27,680,423 Size: 11,941 Total Exon Count: 15 Strand: +
Coding Region
   Position: hg19 chr1:27,671,826-27,680,343 Size: 8,518 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:27,668,483-27,680,423)mRNA (may differ from genome)Protein (562 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SYTL1_HUMAN
DESCRIPTION: RecName: Full=Synaptotagmin-like protein 1; AltName: Full=Exophilin-7; AltName: Full=Protein JFC1;
FUNCTION: May play a role in vesicle trafficking (By similarity). Binds phosphatidylinositol 3,4,5-trisphosphate. Acts as a RAB27A effector protein and may play a role in cytotoxic granule exocytosis in lymphocytes (By similarity).
SUBUNIT: Monomer. Binds NRXN1. Binds RAB27A that has been activated by GTP-binding via its N-terminus (By similarity). Binds NCF2.
SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Note=Peripheral membrane protein tightly bound to the cytoplasmic side of cellular membranes.
TISSUE SPECIFICITY: Highly expressed in bone marrow and lymphoid tissues. Detected at lower levels in cerebellum, occipital lobe, prostate, stomach, kidney, appendix, lung and trachea. Expressed in cytotoxic T-lymphocytes (CTL).
SIMILARITY: Contains 2 C2 domains.
SIMILARITY: Contains 1 RabBD (Rab-binding) domain.
SEQUENCE CAUTION: Sequence=AAH15764.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SYTL1
Diseases sorted by gene-association score: deafness, autosomal recessive 21 (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 56.54 RPKM in Esophagus - Mucosa
Total median expression: 592.42 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -92.10197-0.468 Picture PostScript Text
3' UTR -16.1080-0.201 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000008 - C2_Ca-dep
IPR008973 - C2_Ca/lipid-bd_dom_CaLB
IPR018029 - C2_membr_targeting
IPR010911 - Rab-bd_domain
IPR013083 - Znf_RING/FYVE/PHD

Pfam Domains:
PF00168 - C2 domain

SCOP Domains:
49562 - C2 domain (Calcium/lipid-binding domain, CaLB)
57903 - FYVE/PHD zinc finger

ModBase Predicted Comparative 3D Structure on Q8IYJ3
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0005544 calcium-dependent phospholipid binding
GO:0017137 Rab GTPase binding
GO:0019905 syntaxin binding
GO:0030276 clathrin binding
GO:0042043 neurexin family protein binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0006887 exocytosis
GO:0006906 vesicle fusion
GO:0017158 regulation of calcium ion-dependent exocytosis
GO:0048791 calcium ion-regulated exocytosis of neurotransmitter

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0019897 extrinsic component of plasma membrane
GO:0031528 microvillus membrane
GO:0042470 melanosome
GO:0045202 synapse
GO:0070062 extracellular exosome
GO:0070382 exocytic vesicle
GO:0098793 presynapse


-  Descriptions from all associated GenBank mRNAs
  AK027902 - Homo sapiens cDNA FLJ14996 fis, clone Y79AA1002246, weakly similar to SYNAPTOTAGMIN V.
JD071431 - Sequence 52455 from Patent EP1572962.
AK096437 - Homo sapiens cDNA FLJ39118 fis, clone NTONG2006484, highly similar to Mus musculus slp1 mRNA for synaptotagmin-like protein 1.
JD407799 - Sequence 388823 from Patent EP1572962.
AY037157 - Homo sapiens hypothetical protein SB146 mRNA, complete cds.
BC035725 - Homo sapiens synaptotagmin-like 1, mRNA (cDNA clone MGC:45995 IMAGE:5722683), complete cds.
AK293038 - Homo sapiens cDNA FLJ75170 complete cds, highly similar to Homo sapiens synaptotagmin-like 1, mRNA.
AK074154 - Homo sapiens mRNA for FLJ00227 protein.
CU690178 - Synthetic construct Homo sapiens gateway clone IMAGE:100019876 5' read SYTL1 mRNA.
DQ894400 - Synthetic construct Homo sapiens clone IMAGE:100008860; FLH170236.01L; RZPDo839D0397D synaptotagmin-like 1 (SYTL1) gene, encodes complete protein.
DQ891217 - Synthetic construct clone IMAGE:100003847; FLH170240.01X; RZPDo839D0398D synaptotagmin-like 1 (SYTL1) gene, encodes complete protein.
BC015764 - Homo sapiens synaptotagmin-like 1, mRNA (cDNA clone MGC:23187 IMAGE:4851468), complete cds.
BC009224 - Homo sapiens synaptotagmin-like 1, mRNA (cDNA clone IMAGE:3942111), partial cds.
AK097172 - Homo sapiens cDNA FLJ39853 fis, clone SPLEN2014911.
CU677437 - Synthetic construct Homo sapiens gateway clone IMAGE:100019489 5' read SYTL1 mRNA.
KJ903500 - Synthetic construct Homo sapiens clone ccsbBroadEn_12894 SYTL1 gene, encodes complete protein.
AK126120 - Homo sapiens cDNA FLJ44132 fis, clone THYMU2008282.
JD380738 - Sequence 361762 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8IYJ3 (Reactome details) participates in the following event(s):

R-HSA-8854209 TBC1D10A binds JFC1
R-HSA-8854214 TBC/RABGAPs
R-HSA-9007101 Rab regulation of trafficking
R-HSA-199991 Membrane Trafficking
R-HSA-5653656 Vesicle-mediated transport

-  Other Names for This Gene
  Alternate Gene Symbols: NM_001193308, NP_001180237, Q5SSC9, Q8IYJ3, Q96BB6, Q96GU6, Q96S89, Q96SI0, SB146, SLP1, SYTL1_HUMAN
UCSC ID: uc001bnw.2
RefSeq Accession: NM_001193308
Protein: Q8IYJ3 (aka SYTL1_HUMAN or STL1_HUMAN)
CCDS: CCDS298.1, CCDS53286.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001193308.1
exon count: 15CDS single in 3' UTR: no RNA size: 1989
ORF size: 1689CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 3478.00frame shift in genome: no % Coverage: 98.84
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.