Details for: SYT1

Gene ID: 6857

Symbol: SYT1

Ensembl ID: ENSG00000067715

Description: synaptotagmin 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 12.43
    Marker Score: 9357
  • Cell Name: granule cell (CL0000120)
    Fold Change: 10.36
    Marker Score: 78151
  • Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
    Fold Change: 9.47
    Marker Score: 49707
  • Cell Name: stellate neuron (CL0000122)
    Fold Change: 9.45
    Marker Score: 50759
  • Cell Name: neuronal brush cell (CL0000555)
    Fold Change: 8.93
    Marker Score: 29956
  • Cell Name: macroglial cell (CL0000126)
    Fold Change: 8.62
    Marker Score: 19824
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 7.72
    Marker Score: 10858
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 7.35
    Marker Score: 248313
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 6.15
    Marker Score: 2032
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 4.83
    Marker Score: 22337
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 4.8
    Marker Score: 5795
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 4.64
    Marker Score: 4376.5
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 4.28
    Marker Score: 2488
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 4.03
    Marker Score: 1809
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 3.91
    Marker Score: 4877
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 3.83
    Marker Score: 1839
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 3.67
    Marker Score: 5084
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 3.66
    Marker Score: 10440
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 3.65
    Marker Score: 7426
  • Cell Name: rod bipolar cell (CL0000751)
    Fold Change: 3.58
    Marker Score: 1872
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 3.55
    Marker Score: 1990
  • Cell Name: ganglion interneuron (CL0000397)
    Fold Change: 3.37
    Marker Score: 1024
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 3.23
    Marker Score: 1024
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 3.17
    Marker Score: 9054
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 3.11
    Marker Score: 5215
  • Cell Name: bipolar neuron (CL0000103)
    Fold Change: 3.06
    Marker Score: 1029
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 2.93
    Marker Score: 58187
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 2.85
    Marker Score: 42631
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 2.82
    Marker Score: 3161
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 2.79
    Marker Score: 21416
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 2.74
    Marker Score: 1629
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.73
    Marker Score: 3147
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.71
    Marker Score: 809
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 2.71
    Marker Score: 102961
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 2.62
    Marker Score: 10868
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 2.56
    Marker Score: 1073
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.51
    Marker Score: 4830.5
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 2.47
    Marker Score: 829
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 2.46
    Marker Score: 90716
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 2.41
    Marker Score: 762
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 2.37
    Marker Score: 9144
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 2.35
    Marker Score: 1400
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 2.29
    Marker Score: 48978
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 2.25
    Marker Score: 1483
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 2.25
    Marker Score: 865
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 2.2
    Marker Score: 20677
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 2.15
    Marker Score: 776
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 2.13
    Marker Score: 21958
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 2.08
    Marker Score: 128015
  • Cell Name: neuron (CL0000540)
    Fold Change: 2.02
    Marker Score: 8218
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 1.95
    Marker Score: 920
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.93
    Marker Score: 18338
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 1.91
    Marker Score: 523
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.88
    Marker Score: 16164
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.79
    Marker Score: 884
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 1.78
    Marker Score: 2160
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 1.76
    Marker Score: 3342
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 1.73
    Marker Score: 2323
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 1.72
    Marker Score: 7166
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.65
    Marker Score: 2553
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.59
    Marker Score: 1158
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 1.57
    Marker Score: 3201
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.52
    Marker Score: 1617
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 1.48
    Marker Score: 2049
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 1.45
    Marker Score: 847
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 1.42
    Marker Score: 851
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.41
    Marker Score: 886
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 1.41
    Marker Score: 3319
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 1.39
    Marker Score: 405
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.29
    Marker Score: 486.5
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 1.28
    Marker Score: 3069.5
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.27
    Marker Score: 5333
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 1.24
    Marker Score: 2424
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.16
    Marker Score: 481
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.16
    Marker Score: 1964
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.15
    Marker Score: 1100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4790
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 1.12
    Marker Score: 290
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.1
    Marker Score: 280
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.06
    Marker Score: 16563
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.06
    Marker Score: 6884
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 1.04
    Marker Score: 374
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.04
    Marker Score: 10503
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.03
    Marker Score: 785
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71780
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48006
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1
    Marker Score: 674
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30406
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.98
    Marker Score: 503
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.97
    Marker Score: 457
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.97
    Marker Score: 2020
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.94
    Marker Score: 812
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.93
    Marker Score: 5307
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 371
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.92
    Marker Score: 288
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.92
    Marker Score: 238
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2740
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.91
    Marker Score: 744

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Other Information

**Key Characteristics:** SYT1 is a member of the synaptotagmin family, which consists of three isoforms (SYT1, SYT2, and SYT3) that share a common calcium-binding domain. SYT1 is specifically expressed in neurons and is highly conserved across species, suggesting its critical role in neurotransmitter release. The protein has a unique structure, consisting of three calcium-binding domains and a transmembrane domain that facilitates its interaction with synaptic vesicles. **Pathways and Functions:** SYT1 is integral to several key pathways, including: 1. **Calcium-dependent exocytosis:** SYT1 binds to calcium ions, which triggers the fusion of synaptic vesicles with the plasma membrane, releasing neurotransmitters. 2. **Neurotransmitter release cycle:** SYT1 plays a critical role in the regulation of neurotransmitter release, including acetylcholine, dopamine, glutamate, and GABA. 3. **Axonal transport:** SYT1 is involved in the transport of synaptic vesicles along the axon, facilitating the delivery of neurotransmitters to the synapse. 4. **Synaptic plasticity:** SYT1 is implicated in the regulation of synaptic plasticity, including long-term potentiation (LTP) and long-term depression (LTD). **Clinical Significance:** Dysregulation of SYT1 has been implicated in various neurological disorders, including: 1. **Neurodegenerative diseases:** SYT1 has been linked to neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and Huntington's disease. 2. **Neuropsychiatric disorders:** SYT1 has been implicated in neuropsychiatric disorders, including schizophrenia and bipolar disorder. 3. **Neurotoxicity:** SYT1 has been shown to be involved in the toxicity of botulinum toxin type B and G, highlighting its potential as a therapeutic target for neurotoxicity. In conclusion, SYT1 is a critical component of the exocytotic machinery, playing a pivotal role in neurotransmitter release and regulation. Its dysregulation has been implicated in various neurological disorders, highlighting its potential as a therapeutic target for disease treatment. Further research is needed to fully elucidate the molecular mechanisms underlying SYT1's functions and its role in disease. **References:** * [Insert relevant references to support the discussion] Note: As an expert immunologist, I would like to emphasize that while SYT1 is a critical component of the exocytotic machinery, its role in immune regulation and response is not extensively discussed in the provided text. Further research is needed to explore the potential immunological implications of SYT1 dysregulation.

Genular Protein ID: 3980123890

Symbol: SYT1_HUMAN

Name: N/A

UniProtKB Accession Codes:

P21579 Q6AI31

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CTD 1 ChEBI 23 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 6 EPD 1 Ensembl 13 EvolutionaryTrace 1 ExpressionAtlas 1 GO 57 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 2 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 27 PDBsum 22 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 11 RefSeq 5 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 3 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 1840599

Title: Structural and functional conservation of synaptotagmin (p65) in Drosophila and humans.

PubMed ID: 1840599

DOI: 10.1016/s0021-9258(18)52479-0

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11381094

Title: Stonin 2: an adaptor-like protein that interacts with components of the endocytic machinery.

PubMed ID: 11381094

DOI: 10.1083/jcb.153.5.1111

PubMed ID: 19234194

Title: Human SCAMP5, a novel secretory carrier membrane protein, facilitates calcium-triggered cytokine secretion by interaction with SNARE machinery.

PubMed ID: 19234194

DOI: 10.4049/jimmunol.0802002

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 23999003

Title: SYT14L, especially its C2 domain, is involved in regulating melanocyte differentiation.

PubMed ID: 23999003

DOI: 10.1016/j.jdermsci.2013.07.010

PubMed ID: 25712080

Title: Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome.

PubMed ID: 25712080

DOI: 10.1038/ejhg.2015.19

PubMed ID: 25705886

Title: Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

PubMed ID: 25705886

DOI: 10.1172/jci79765

PubMed ID: 30107533

Title: SYT1-associated neurodevelopmental disorder: a case series.

PubMed ID: 30107533

DOI: 10.1093/brain/awy209

Sequence Information:

  • Length: 422
  • Mass: 47573
  • Checksum: 467F7C58E411AFA9
  • Sequence:
    • MVSESHHEAL AAPPVTTVAT VLPSNATEPA SPGEGKEDAF SKLKEKFMNE LHKIPLPPWA 
LIAIAIVAVL LVLTCCFCIC KKCLFKKKNK KKGKEKGGKN AINMKDVKDL GKTMKDQALK 
DDDAETGLTD GEEKEEPKEE EKLGKLQYSL DYDFQNNQLL VGIIQAAELP ALDMGGTSDP 
YVKVFLLPDK KKKFETKVHR KTLNPVFNEQ FTFKVPYSEL GGKTLVMAVY DFDRFSKHDI 
IGEFKVPMNT VDFGHVTEEW RDLQSAEKEE QEKLGDICFS LRYVPTAGKL TVVILEAKNL 
KKMDVGGLSD PYVKIHLMQN GKRLKKKKTT IKKNTLNPYY NESFSFEVPF EQIQKVQVVV 
TVLDYDKIGK NDAIGKVFVG YNSTGAELRH WSDMLANPRR PIAQWHTLQV EEEVDAMLAV 
KK

Genular Protein ID: 590287530

Symbol: J3KQA0_HUMAN

Name: N/A

UniProtKB Accession Codes:

J3KQA0

Database IDs:

ARBA 9 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 3 CTD 1 ChEBI 1 ChiTaRS 1 DNASU 1 EMBL 10 EPD 1 Ensembl 5 GO 2 Gene3D 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 InterPro 3 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 PANTHER 2 PDB 4 PRINTS 2 PROSITE 2 Pfam 1 Proteomes 2 RefSeq 3 RuleBase 1 SAM 1 SMART 1 SUPFAM 1 UCSC 1 VEuPathDB 1

Citations:

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 16541075

Title: The finished DNA sequence of human chromosome 12.

PubMed ID: 16541075

DOI: 10.1038/nature04569

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

Sequence Information:

  • Length: 419
  • Mass: 47261
  • Checksum: 146FA2B8897EADDB
  • Sequence:
    • MVSESHHEAL AAPPVTTVAT VLPSNATEPA SPGEGKEDAF SKLKEKFMNE LHKIPLPPWA 
LIAIAIVAVL LVLTCCFCIC KKCLFKKKNK KKGKEKGGKN AINMKDVKDL GKTMKDQDDD 
AETGLTDGEE KEEPKEEEKL GKLQYSLDYD FQNNQLLVGI IQAAELPALD MGGTSDPYVK 
VFLLPDKKKK FETKVHRKTL NPVFNEQFTF KVPYSELGGK TLVMAVYDFD RFSKHDIIGE 
FKVPMNTVDF GHVTEEWRDL QSAEKEEQEK LGDICFSLRY VPTAGKLTVV ILEAKNLKKM 
DVGGLSDPYV KIHLMQNGKR LKKKKTTIKK NTLNPYYNES FSFEVPFEQI QKVQVVVTVL 
DYDKIGKNDA IGKVFVGYNS TGAELRHWSD MLANPRRPIA QWHTLQVEEE VDAMLAVKK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.