Details for: CNTNAP1

Gene ID: 8506

Symbol: CNTNAP1

Ensembl ID: ENSG00000108797

Description: contactin associated protein 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: 125.6226
    Cell Significance Index: -19.5400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 77.7272
    Cell Significance Index: -19.7200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 15.8481
    Cell Significance Index: -19.5400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.9961
    Cell Significance Index: -19.7200
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 1.5821
    Cell Significance Index: 22.4800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.2763
    Cell Significance Index: 256.0300
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.9627
    Cell Significance Index: 665.8700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.5088
    Cell Significance Index: 14.5200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4531
    Cell Significance Index: 162.5100
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.4322
    Cell Significance Index: 29.0600
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.3659
    Cell Significance Index: 2.8200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2944
    Cell Significance Index: 47.8800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.2837
    Cell Significance Index: 12.5500
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.2630
    Cell Significance Index: 9.9600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.1023
    Cell Significance Index: 2.2400
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.0986
    Cell Significance Index: 5.9200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.0714
    Cell Significance Index: 13.6000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0630
    Cell Significance Index: 1.0800
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0611
    Cell Significance Index: 6.0400
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0241
    Cell Significance Index: 3.3100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0023
    Cell Significance Index: 4.2600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0011
    Cell Significance Index: 0.0700
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0020
    Cell Significance Index: -0.0300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.0101
    Cell Significance Index: -0.1600
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0134
    Cell Significance Index: -24.6600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0142
    Cell Significance Index: -6.4500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0151
    Cell Significance Index: -9.5600
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0159
    Cell Significance Index: -24.5000
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0201
    Cell Significance Index: -14.7400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0203
    Cell Significance Index: -27.6400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0224
    Cell Significance Index: -12.2100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0251
    Cell Significance Index: -11.0900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0274
    Cell Significance Index: -20.7100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0275
    Cell Significance Index: -4.9600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0323
    Cell Significance Index: -23.9300
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.0328
    Cell Significance Index: -3.5700
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0338
    Cell Significance Index: -21.0900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0392
    Cell Significance Index: -22.1200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0448
    Cell Significance Index: -3.4400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0521
    Cell Significance Index: -14.9900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0540
    Cell Significance Index: -10.7200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0622
    Cell Significance Index: -3.9200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0660
    Cell Significance Index: -1.4100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0729
    Cell Significance Index: -10.5900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0746
    Cell Significance Index: -2.1500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0773
    Cell Significance Index: -1.6400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0841
    Cell Significance Index: -10.3400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0876
    Cell Significance Index: -10.2100
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0946
    Cell Significance Index: -6.5500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0967
    Cell Significance Index: -12.4000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1016
    Cell Significance Index: -17.3500
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.1067
    Cell Significance Index: -1.3300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1167
    Cell Significance Index: -24.5700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1199
    Cell Significance Index: -3.8400
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1283
    Cell Significance Index: -2.7800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.1317
    Cell Significance Index: -5.9700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1336
    Cell Significance Index: -15.7600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1363
    Cell Significance Index: -17.6100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.1373
    Cell Significance Index: -2.6800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1518
    Cell Significance Index: -15.5100
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.1763
    Cell Significance Index: -1.4600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1776
    Cell Significance Index: -20.3500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1830
    Cell Significance Index: -19.0500
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2004
    Cell Significance Index: -3.0200
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2025
    Cell Significance Index: -4.2000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.2086
    Cell Significance Index: -5.8300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2098
    Cell Significance Index: -5.2500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2169
    Cell Significance Index: -11.3900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2172
    Cell Significance Index: -5.2100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2295
    Cell Significance Index: -7.3100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2344
    Cell Significance Index: -17.4700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2353
    Cell Significance Index: -3.3700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.2431
    Cell Significance Index: -4.8800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2475
    Cell Significance Index: -12.8900
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.2504
    Cell Significance Index: -3.1600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2567
    Cell Significance Index: -16.5600
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.2605
    Cell Significance Index: -5.1500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.2606
    Cell Significance Index: -13.5400
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.2882
    Cell Significance Index: -12.5300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2889
    Cell Significance Index: -16.2100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2898
    Cell Significance Index: -17.7700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2993
    Cell Significance Index: -9.8000
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.3016
    Cell Significance Index: -15.2400
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.3078
    Cell Significance Index: -6.6500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.3157
    Cell Significance Index: -14.7200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3357
    Cell Significance Index: -11.7600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3451
    Cell Significance Index: -16.2200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3788
    Cell Significance Index: -10.3100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.3827
    Cell Significance Index: -9.5500
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.4019
    Cell Significance Index: -10.3300
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.4039
    Cell Significance Index: -8.4300
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.4056
    Cell Significance Index: -5.2600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4452
    Cell Significance Index: -15.4700
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.4795
    Cell Significance Index: -10.2500
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.4909
    Cell Significance Index: -5.9500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4975
    Cell Significance Index: -14.2600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.5202
    Cell Significance Index: -21.3100
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.5223
    Cell Significance Index: -5.6900
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.5380
    Cell Significance Index: -5.1000
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.5789
    Cell Significance Index: -10.0100

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** CNTNAP1 is a transmembrane protein with multiple extracellular domains, including a contactin-like domain, a L1CAM-like domain, and a Sh3 domain. These domains interact with other proteins, such as L1CAM, neurofascin, and syntenin, to regulate cell-cell interactions and axon guidance. CNTNAP1 is also a component of the postsynaptic density and plays a role in regulating synaptic plasticity and neurotransmitter release. The protein is highly expressed in the central nervous system, particularly in neurons and glial cells, but also in peripheral nervous system and other tissues. **Pathways and Functions** CNTNAP1 is involved in several signaling pathways, including: 1. **Axon guidance**: CNTNAP1 interacts with L1CAM and other proteins to regulate axon growth and guidance during development. 2. **Cell adhesion**: CNTNAP1 interacts with other proteins to regulate cell-cell interactions and adhesion in the central nervous system. 3. **Synaptic function**: CNTNAP1 is a component of the postsynaptic density and regulates synaptic plasticity and neurotransmitter release. 4. **Mitochondrial organization**: CNTNAP1 interacts with other proteins to regulate mitochondrial organization and function. 5. **Neurofascin interactions**: CNTNAP1 interacts with neurofascin to regulate axon guidance and synaptic function. **Clinical Significance** Dysregulation of CNTNAP1 has been implicated in several neurological disorders, including: 1. **Autism spectrum disorder (ASD)**: Studies have shown that CNTNAP1 mutations are associated with ASD, a neurodevelopmental disorder characterized by impaired social interaction and communication. 2. **Schizophrenia**: CNTNAP1 has been implicated in schizophrenia, a psychiatric disorder characterized by impaired cognitive function and social interaction. 3. **Neuromuscular disorders**: CNTNAP1 has been implicated in neuromuscular disorders, such as myasthenia gravis and Lambert-Eaton myasthenic syndrome. 4. **Stroke and cerebral ischemia**: CNTNAP1 has been implicated in stroke and cerebral ischemia, conditions characterized by impaired cognitive function and motor deficits. In conclusion, CNTNAP1 is a multifunctional protein that plays a critical role in various cellular processes, including axon guidance, cell adhesion, and synaptic function. Its dysregulation has been implicated in several neurological disorders, highlighting the importance of this protein in maintaining normal brain function and development.

Genular Protein ID: 3427920779

Symbol: CNTP1_HUMAN

Name: Contactin-associated protein 1

UniProtKB Accession Codes:

P78357

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 3 CORUM 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 1 Ensembl 1 ExpressionAtlas 1 GO 26 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 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 PRO 1 PROSITE 6 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9118959

Title: Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions.

PubMed ID: 9118959

DOI: 10.1093/emboj/16.5.978

PubMed ID: 24319099

Title: Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

PubMed ID: 24319099

DOI: 10.1093/hmg/ddt618

PubMed ID: 27782105

Title: Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.

PubMed ID: 27782105

DOI: 10.1038/ejhg.2016.142

PubMed ID: 27818385

Title: Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region.

PubMed ID: 27818385

DOI: 10.1093/jnen/nlw093

PubMed ID: 28254648

Title: Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.

PubMed ID: 28254648

DOI: 10.1016/j.ejmg.2017.02.006

PubMed ID: 27668699

Title: Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.

PubMed ID: 27668699

DOI: 10.1002/mus.25416

PubMed ID: 28374019

Title: CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis.

PubMed ID: 28374019

DOI: 10.1212/nxg.0000000000000144

PubMed ID: 29511323

Title: Phenotype of CNTNAP1: a study of patients demonstrating a specific severe congenital hypomyelinating neuropathy with survival beyond infancy.

PubMed ID: 29511323

DOI: 10.1038/s41431-018-0110-x

Sequence Information:

  • Length: 1384
  • Mass: 156267
  • Checksum: 7727A13DF626DDCA
  • Sequence:
    • MMHLRLFCIL LAAVSGAEGW GYYGCDEELV GPLYARSLGA SSYYSLLTAP RFARLHGISG 
WSPRIGDPNP WLQIDLMKKH RIRAVATQGS FNSWDWVTRY MLLYGDRVDS WTPFYQRGHN 
STFFGNVNES AVVRHDLHFH FTARYIRIVP LAWNPRGKIG LRLGLYGCPY KADILYFDGD 
DAISYRFPRG VSRSLWDVFA FSFKTEEKDG LLLHAEGAQG DYVTLELEGA HLLLHMSLGS 
SPIQPRPGHT TVSAGGVLND QHWHYVRVDR FGRDVNFTLD GYVQRFILNG DFERLNLDTE 
MFIGGLVGAA RKNLAYRHNF RGCIENVIFN RVNIADLAVR RHSRITFEGK VAFRCLDPVP 
HPINFGGPHN FVQVPGFPRR GRLAVSFRFR TWDLTGLLLF SRLGDGLGHV ELTLSEGQVN 
VSIAQSGRKK LQFAAGYRLN DGFWHEVNFV AQENHAVISI DDVEGAEVRV SYPLLIRTGT 
SYFFGGCPKP ASRWDCHSNQ TAFHGCMELL KVDGQLVNLT LVEGRRLGFY AEVLFDTCGI 
TDRCSPNMCE HDGRCYQSWD DFICYCELTG YKGETCHTPL YKESCEAYRL SGKTSGNFTI 
DPDGSGPLKP FVVYCDIREN RAWTVVRHDR LWTTRVTGSS MERPFLGAIQ YWNASWEEVS 
ALANASQHCE QWIEFSCYNS RLLNTAGGYP YSFWIGRNEE QHFYWGGSQP GIQRCACGLD 
RSCVDPALYC NCDADQPQWR TDKGLLTFVD HLPVTQVVIG DTNRSTSEAQ FFLRPLRCYG 
DRNSWNTISF HTGAALRFPP IRANHSLDVS FYFRTSAPSG VFLENMGGPY CQWRRPYVRV 
ELNTSRDVVF AFDVGNGDEN LTVHSDDFEF NDDEWHLVRA EINVKQARLR VDHRPWVLRP 
MPLQTYIWME YDQPLYVGSA ELKRRPFVGC LRAMRLNGVT LNLEGRANAS EGTSPNCTGH 
CAHPRLPCFH GGRCVERYSY YTCDCDLTAF DGPYCNHDIG GFFEPGTWMR YNLQSALRSA 
AREFSHMLSR PVPGYEPGYI PGYDTPGYVP GYHGPGYRLP DYPRPGRPVP GYRGPVYNVT 
GEEVSFSFST SSAPAVLLYV SSFVRDYMAV LIKDDGTLQL RYQLGTSPYV YQLTTRPVTD 
GQPHSINITR VYRNLFIQVD YFPLTEQKFS LLVDSQLDSP KALYLGRVME TGVIDPEIQR 
YNTPGFSGCL SGVRFNNVAP LKTHFRTPRP MTAELAEALR VQGELSESNC GAMPRLVSEV 
PPELDPWYLP PDFPYYHDEG WVAILLGFLV AFLLLGLVGM LVLFYLQNHR YKGSYHTNEP 
KAAHEYHPGS KPPLPTSGPA QVPTPTAAPN QAPASAPAPA PTPAPAPGPR DQNLPQILEE 
SRSE

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.