Details for: SYN1

Gene ID: 6853

Symbol: SYN1

Ensembl ID: ENSG00000008056

Description: synapsin I

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: 86.0843
    Cell Significance Index: -13.3900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 52.3964
    Cell Significance Index: -13.2900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 2.0864
    Cell Significance Index: 59.5400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 2.0180
    Cell Significance Index: 43.7200
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: 1.7294
    Cell Significance Index: 23.0700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 1.7125
    Cell Significance Index: 105.0000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.6865
    Cell Significance Index: 338.3100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.3595
    Cell Significance Index: 71.3800
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.1680
    Cell Significance Index: 9.0000
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 1.0633
    Cell Significance Index: 71.5000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.9418
    Cell Significance Index: 337.7900
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: 0.9111
    Cell Significance Index: 11.8200
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.7365
    Cell Significance Index: 9.1400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5959
    Cell Significance Index: 113.4000
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.4979
    Cell Significance Index: 344.3500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.4777
    Cell Significance Index: 10.4600
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: 0.4509
    Cell Significance Index: 4.9800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.3203
    Cell Significance Index: 12.1300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3070
    Cell Significance Index: 30.3700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2940
    Cell Significance Index: 18.5300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.2931
    Cell Significance Index: 12.9700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.2615
    Cell Significance Index: 236.1600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1966
    Cell Significance Index: 21.3800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1840
    Cell Significance Index: 11.3100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1820
    Cell Significance Index: 29.6100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1594
    Cell Significance Index: 9.5700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.1482
    Cell Significance Index: 2.5400
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1397
    Cell Significance Index: 2.9800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.1354
    Cell Significance Index: 2.9300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0935
    Cell Significance Index: 10.9000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.0563
    Cell Significance Index: 1.3500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.0269
    Cell Significance Index: 1.8600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.0028
    Cell Significance Index: 2.0400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0032
    Cell Significance Index: -0.0800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0033
    Cell Significance Index: -0.0700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0037
    Cell Significance Index: -2.3000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0042
    Cell Significance Index: -0.1200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0050
    Cell Significance Index: -2.8000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0064
    Cell Significance Index: -11.8400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0072
    Cell Significance Index: -13.6200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0077
    Cell Significance Index: -11.8400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0083
    Cell Significance Index: -0.2900
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0087
    Cell Significance Index: -0.9900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0087
    Cell Significance Index: -11.7700
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0119
    Cell Significance Index: -0.1300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0168
    Cell Significance Index: -12.2900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0181
    Cell Significance Index: -13.7400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0192
    Cell Significance Index: -12.1900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0201
    Cell Significance Index: -10.9800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0235
    Cell Significance Index: -4.9500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0262
    Cell Significance Index: -11.8900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0270
    Cell Significance Index: -4.6100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0290
    Cell Significance Index: -12.8200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0324
    Cell Significance Index: -0.6500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0333
    Cell Significance Index: -1.5100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0369
    Cell Significance Index: -6.6600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0381
    Cell Significance Index: -10.9500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0528
    Cell Significance Index: -7.2500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0577
    Cell Significance Index: -11.4600
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.0606
    Cell Significance Index: -0.5000
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.0610
    Cell Significance Index: -0.5800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0698
    Cell Significance Index: -2.2400
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0781
    Cell Significance Index: -1.6200
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0814
    Cell Significance Index: -1.6100
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.0829
    Cell Significance Index: -1.2500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0841
    Cell Significance Index: -12.2200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0865
    Cell Significance Index: -10.6400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0999
    Cell Significance Index: -12.9000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.1006
    Cell Significance Index: -1.4400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1032
    Cell Significance Index: -3.3800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1035
    Cell Significance Index: -12.2000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1052
    Cell Significance Index: -13.4900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1068
    Cell Significance Index: -12.2400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1164
    Cell Significance Index: -11.8900
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1177
    Cell Significance Index: -3.7500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1328
    Cell Significance Index: -13.8300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1397
    Cell Significance Index: -3.5900
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.1434
    Cell Significance Index: -1.8100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1478
    Cell Significance Index: -4.1300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1491
    Cell Significance Index: -11.4400
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1519
    Cell Significance Index: -6.6000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1558
    Cell Significance Index: -12.3400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.1559
    Cell Significance Index: -7.2700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1704
    Cell Significance Index: -9.5600
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1731
    Cell Significance Index: -2.0200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1737
    Cell Significance Index: -12.9500
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.1749
    Cell Significance Index: -2.1200
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1824
    Cell Significance Index: -4.5500
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: -0.1831
    Cell Significance Index: -2.1900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.1923
    Cell Significance Index: -9.9900
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1933
    Cell Significance Index: -12.4700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2079
    Cell Significance Index: -10.8300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2088
    Cell Significance Index: -7.3200
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.2247
    Cell Significance Index: -2.1300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2434
    Cell Significance Index: -5.0800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.2606
    Cell Significance Index: -3.2500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2653
    Cell Significance Index: -12.4700
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: -0.2702
    Cell Significance Index: -2.3800
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.2769
    Cell Significance Index: -7.4200
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: -0.2889
    Cell Significance Index: -3.2100

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** 1. **Structure**: SYN1 is a cytoskeletal protein composed of four α-helices and a globular domain. Its unique structure allows it to interact with various proteins and lipids, facilitating its role in synaptic function. 2. **Localization**: SYN1 is predominantly localized to the presynaptic active zone (PSZ) of synapses, where it interacts with synaptic vesicles and neurotransmitter release machinery. 3. **Interactions**: SYN1 interacts with various proteins, including synaptophysin, SNAP-25, and VAMP2, to regulate synaptic vesicle cycling and neurotransmitter release. 4. **Expression**: SYN1 is expressed in a variety of neuronal populations, including GABAergic amacrine cells, glutamatergic neurons, and dopaminergic neurons. **Pathways and Functions** 1. **Synaptic Vesicle Cycling**: SYN1 regulates the cycling of synaptic vesicles between the PSZ and the cytosol, ensuring the proper release of neurotransmitters. 2. **Neurotransmitter Release**: SYN1 interacts with neurotransmitter release machinery to regulate the release of neurotransmitters, such as dopamine and serotonin. 3. **Synaptic Plasticity**: SYN1 is involved in the regulation of synaptic plasticity, including long-term potentiation (LTP) and long-term depression (LTD). 4. **Cytoskeletal Organization**: SYN1 interacts with cytoskeletal proteins to regulate the organization and dynamics of the actin cytoskeleton, which is essential for synaptic function. **Clinical Significance** 1. **Neurodevelopmental Disorders**: SYN1 has been implicated in neurodevelopmental disorders, such as autism spectrum disorder (ASD) and schizophrenia. 2. **Neurodegenerative Diseases**: SYN1 has been found to be reduced in neurodegenerative diseases, such as Alzheimer's disease (AD) and Parkinson's disease (PD). 3. **Cognitive Impairments**: SYN1 has been linked to cognitive impairments, including attention-deficit/hyperactivity disorder (ADHD) and learning disabilities. 4. **Therapeutic Potential**: SYN1 has been identified as a potential therapeutic target for the treatment of neurodevelopmental disorders and neurodegenerative diseases. In conclusion, SYN1 is a critical protein involved in the regulation of neurotransmitter release, synaptic plasticity, and cytoskeletal organization. Its dysregulation has been implicated in various neurodevelopmental and neurodegenerative disorders, highlighting its potential as a therapeutic target for the treatment of these conditions.

Genular Protein ID: 3210136084

Symbol: SYN1_HUMAN

Name: Synapsin-1

UniProtKB Accession Codes:

P17600 B1AJQ1 O75825 Q5H9A9

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 EMBL 30 Ensembl 2 ExpressionAtlas 1 GO 27 Gene3D 3 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 7 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 3 RefSeq 2 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2110562

Title: The structure of the human synapsin I gene and protein.

PubMed ID: 2110562

DOI: 10.1016/s0021-9258(19)39008-8

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 2118519

Title: The 5'-flanking region of the synapsin I gene. A G+C-rich, TATA- and CAAT-less, phylogenetically conserved sequence with cell type-specific promoter function.

PubMed ID: 2118519

DOI: 10.1016/s0021-9258(18)77206-2

PubMed ID: 14985377

Title: Identification of a mutation in synapsin I, a synaptic vesicle protein, in a family with epilepsy.

PubMed ID: 14985377

DOI: 10.1136/jmg.2003.013680

PubMed ID: 15822905

Title: Phosphoproteomic analysis of synaptosomes from human cerebral cortex.

PubMed ID: 15822905

DOI: 10.1021/pr0498436

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: 21441247

Title: SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function.

PubMed ID: 21441247

DOI: 10.1093/hmg/ddr122

PubMed ID: 23406870

Title: Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity.

PubMed ID: 23406870

DOI: 10.1093/hmg/ddt071

PubMed ID: 28973667

Title: A novel SYN1 missense mutation in non-syndromic X-linked intellectual disability affects synaptic vesicle life cycle, clustering and mobility.

PubMed ID: 28973667

DOI: 10.1093/hmg/ddx352

Sequence Information:

  • Length: 705
  • Mass: 74111
  • Checksum: BE4CE46C942300B0
  • Sequence:
    • MNYLRRRLSD SNFMANLPNG YMTDLQRPQP PPPPPGAHSP GATPGPGTAT AERSSGVAPA 
ASPAAPSPGS SGGGGFFSSL SNAVKQTTAA AAATFSEQVG GGSGGAGRGG AASRVLLVID 
EPHTDWAKYF KGKKIHGEID IKVEQAEFSD LNLVAHANGG FSVDMEVLRN GVKVVRSLKP 
DFVLIRQHAF SMARNGDYRS LVIGLQYAGI PSVNSLHSVY NFCDKPWVFA QMVRLHKKLG 
TEEFPLIDQT FYPNHKEMLS STTYPVVVKM GHAHSGMGKV KVDNQHDFQD IASVVALTKT 
YATAEPFIDA KYDVRVQKIG QNYKAYMRTS VSGNWKTNTG SAMLEQIAMS DRYKLWVDTC 
SEIFGGLDIC AVEALHGKDG RDHIIEVVGS SMPLIGDHQD EDKQLIVELV VNKMAQALPR 
QRQRDASPGR GSHGQTPSPG ALPLGRQTSQ QPAGPPAQQR PPPQGGPPQP GPGPQRQGPP 
LQQRPPPQGQ QHLSGLGPPA GSPLPQRLPS PTSAPQQPAS QAAPPTQGQG RQSRPVAGGP 
GAPPAARPPA SPSPQRQAGP PQATRQTSVS GPAPPKASGA PPGGQQRQGP PQKPPGPAGP 
TRQASQAGPV PRTGPPTTQQ PRPSGPGPAG RPKPQLAQKP SQDVPPPATA AAGGPPHPQL 
NKSQSLTNAF NLPEPAPPRP SLSQDEVKAE TIRSLRKSFA SLFSD

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.