Details for: SYT1

Gene ID: 6857

Symbol: SYT1

Ensembl ID: ENSG00000067715

Description: synaptotagmin 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 703.3324
    Cell Significance Index: -109.4000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 430.7031
    Cell Significance Index: -109.2500
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 261.1983
    Cell Significance Index: -107.6000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 88.7299
    Cell Significance Index: -109.4000
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 19.8213
    Cell Significance Index: 152.7800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 13.9208
    Cell Significance Index: 730.9000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 13.7514
    Cell Significance Index: 235.6600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 13.1910
    Cell Significance Index: 740.2100
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 11.8236
    Cell Significance Index: 283.5600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 10.0651
    Cell Significance Index: 618.6500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 9.6055
    Cell Significance Index: 274.1100
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 9.4233
    Cell Significance Index: 593.9200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 8.6738
    Cell Significance Index: 3111.1500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 8.4980
    Cell Significance Index: 571.4100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.7127
    Cell Significance Index: -16.8800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 6.8133
    Cell Significance Index: 301.3700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 6.3915
    Cell Significance Index: 242.0300
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 5.9352
    Cell Significance Index: 76.9700
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 5.9039
    Cell Significance Index: 61.5000
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 4.4491
    Cell Significance Index: 59.3500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 4.3742
    Cell Significance Index: 3025.3900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 4.2132
    Cell Significance Index: 845.1600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 3.8764
    Cell Significance Index: 84.8800
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: 3.3932
    Cell Significance Index: 29.8900
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 3.0746
    Cell Significance Index: 46.0700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.7042
    Cell Significance Index: 104.4900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.5012
    Cell Significance Index: 192.4400
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: 1.1838
    Cell Significance Index: 14.3500
  • Cell Name: chandelier cell (CL4023083)
    Fold Change: 1.0688
    Cell Significance Index: 8.6300
  • Cell Name: ON-bipolar cell (CL0000749)
    Fold Change: 0.9179
    Cell Significance Index: 10.3700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.5748
    Cell Significance Index: 59.8500
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: 0.4793
    Cell Significance Index: 4.5600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.4639
    Cell Significance Index: 9.9200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.4386
    Cell Significance Index: 825.7400
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.4162
    Cell Significance Index: 5.1900
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4084
    Cell Significance Index: 77.7200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3046
    Cell Significance Index: 275.0600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.2605
    Cell Significance Index: 5.1500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.2149
    Cell Significance Index: 330.8000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2133
    Cell Significance Index: 9.6700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1891
    Cell Significance Index: 348.7200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.1365
    Cell Significance Index: 27.0800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.0998
    Cell Significance Index: 1.1900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0478
    Cell Significance Index: 65.0000
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.0349
    Cell Significance Index: 0.3800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0346
    Cell Significance Index: -25.6600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0463
    Cell Significance Index: -29.4200
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0776
    Cell Significance Index: -2.7300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0906
    Cell Significance Index: -41.1000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0918
    Cell Significance Index: -50.1400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.1226
    Cell Significance Index: -54.2200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.1241
    Cell Significance Index: -91.0000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1342
    Cell Significance Index: -83.7900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1345
    Cell Significance Index: -75.8700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.1492
    Cell Significance Index: -112.9500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1690
    Cell Significance Index: -23.2100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2301
    Cell Significance Index: -33.4500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.2459
    Cell Significance Index: -40.0000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: -0.2746
    Cell Significance Index: -27.1700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.3081
    Cell Significance Index: -19.8800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.3103
    Cell Significance Index: -89.2800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.3282
    Cell Significance Index: -4.7000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.3454
    Cell Significance Index: -72.7600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3571
    Cell Significance Index: -7.5800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3717
    Cell Significance Index: -12.1700
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: -0.3833
    Cell Significance Index: -2.9400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.3975
    Cell Significance Index: -71.6600
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.4556
    Cell Significance Index: -5.7500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4926
    Cell Significance Index: -15.6900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.5241
    Cell Significance Index: -89.4900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.6087
    Cell Significance Index: -12.2200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.6224
    Cell Significance Index: -67.7000
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.6224
    Cell Significance Index: -7.7200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.6312
    Cell Significance Index: -17.6400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.6320
    Cell Significance Index: -18.2100
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.6630
    Cell Significance Index: -81.5300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.6830
    Cell Significance Index: -79.6000
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.7097
    Cell Significance Index: -8.2800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.7675
    Cell Significance Index: -99.1500
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.8075
    Cell Significance Index: -10.1900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.8619
    Cell Significance Index: -101.6500
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.9159
    Cell Significance Index: -13.9100
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.9562
    Cell Significance Index: -97.6800
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.9674
    Cell Significance Index: -9.1700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.9818
    Cell Significance Index: -112.0700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.9932
    Cell Significance Index: -113.7900
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.0207
    Cell Significance Index: -25.5200
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -1.0300
    Cell Significance Index: -12.3200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -1.1124
    Cell Significance Index: -76.9300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -1.1895
    Cell Significance Index: -94.2100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -1.2178
    Cell Significance Index: -26.3100
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -1.2282
    Cell Significance Index: -17.2500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -1.3313
    Cell Significance Index: -99.2200
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -1.3378
    Cell Significance Index: -14.7600
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -1.3416
    Cell Significance Index: -10.9400
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: -1.3492
    Cell Significance Index: -10.3800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -1.4176
    Cell Significance Index: -49.2600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -1.4342
    Cell Significance Index: -86.1000
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -1.4348
    Cell Significance Index: -110.1100
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -1.4918
    Cell Significance Index: -64.8700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

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:

Database IDs:

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:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 11181995

Title: The sequence of the human genome.

PubMed ID: 11181995

DOI: 10.1126/science.1058040

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

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. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.