CNTN1 | ENSG00000018236 | NCBI 1272

Details for: CNTN1

Gene ID: 1272

Symbol: CNTN1

Ensembl ID: ENSG00000018236

Description: contactin 1

Associated with

Activated notch1 transmits signal to the nucleus
(R-HSA-2122948)
Developmental biology
(R-HSA-1266738)
L1cam interactions
(R-HSA-373760)
Nervous system development
(R-HSA-9675108)
Neurofascin interactions
(R-HSA-447043)
Notch2 activation and transmission of signal to the nucleus
(R-HSA-2979096)
Signaling by notch
(R-HSA-157118)
Signaling by notch1
(R-HSA-1980143)
Signaling by notch2
(R-HSA-1980145)
Signal transduction
(R-HSA-162582)
Axon
(GO:0030424)
Axon guidance
(GO:0007411)
Brain development
(GO:0007420)
Carbohydrate binding
(GO:0030246)
Cell-cell adhesion
(GO:0098609)
Cell-cell adhesion mediator activity
(GO:0098632)
Cell adhesion
(GO:0007155)
Central nervous system myelin formation
(GO:0032289)
Cerebellum development
(GO:0021549)
Extracellular exosome
(GO:0070062)
Gene expression
(GO:0010467)
Locomotory behavior
(GO:0007626)
Membrane
(GO:0016020)
Notch signaling pathway
(GO:0007219)
Plasma membrane
(GO:0005886)
Positive regulation of gene expression
(GO:0010628)
Positive regulation of neuron projection development
(GO:0010976)
Positive regulation of sodium ion transport
(GO:0010765)
Postsynaptic membrane
(GO:0045211)
Presynaptic membrane
(GO:0042734)
Protein binding
(GO:0005515)
Side of membrane
(GO:0098552)

Cells (max top 100)

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

Cell Name: neuron associated cell (sensu Vertebrata) (CL0000123)
Fold Change: 9.23
Marker Score: 48,427
Cell Name: chromaffin cell (CL0000166)
Fold Change: 8.91
Marker Score: 12,536
Cell Name: granule cell (CL0000120)
Fold Change: 8.52
Marker Score: 64,244
Cell Name: stellate neuron (CL0000122)
Fold Change: 8.31
Marker Score: 44,647
Cell Name: macroglial cell (CL0000126)
Fold Change: 7.25
Marker Score: 16,673
Cell Name: sympathetic neuron (CL0011103)
Fold Change: 6.43
Marker Score: 2,124
Cell Name: Purkinje cell (CL0000121)
Fold Change: 5.31
Marker Score: 179,250
Cell Name: inhibitory interneuron (CL0000498)
Fold Change: 4.11
Marker Score: 19,022
Cell Name: mature astrocyte (CL0002627)
Fold Change: 4.05
Marker Score: 2,668
Cell Name: neuronal brush cell (CL0000555)
Fold Change: 3.75
Marker Score: 12,559
Cell Name: pulmonary interstitial fibroblast (CL0002241)
Fold Change: 3.41
Marker Score: 2,731
Cell Name: ciliary muscle cell (CL1000443)
Fold Change: 3.37
Marker Score: 7,388
Cell Name: photoreceptor cell (CL0000210)
Fold Change: 3.24
Marker Score: 2,439
Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: 3.18
Marker Score: 67,963
Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 3.05
Marker Score: 12,762
Cell Name: cerebral cortex neuron (CL0010012)
Fold Change: 2.9
Marker Score: 8,264
Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: 2.88
Marker Score: 57,346
Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: 2.81
Marker Score: 42,067
Cell Name: sncg GABAergic cortical interneuron (CL4023015)
Fold Change: 2.79
Marker Score: 21,381
Cell Name: pyramidal neuron (CL0000598)
Fold Change: 2.73
Marker Score: 4,589
Cell Name: vip GABAergic cortical interneuron (CL4023016)
Fold Change: 2.71
Marker Score: 103,082
Cell Name: brainstem motor neuron (CL2000047)
Fold Change: 2.71
Marker Score: 1,575
Cell Name: astrocyte (CL0000127)
Fold Change: 2.69
Marker Score: 2,331
Cell Name: retinal ganglion cell (CL0000740)
Fold Change: 2.65
Marker Score: 3,305
Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: 2.6
Marker Score: 10,783
Cell Name: OFF retinal ganglion cell (CL4023033)
Fold Change: 2.47
Marker Score: 1,035
Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: 2.44
Marker Score: 89,868
Cell Name: oligodendrocyte precursor cell (CL0002453)
Fold Change: 2.35
Marker Score: 2,912
Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 2.34
Marker Score: 9,062
Cell Name: endocrine cell (CL0000163)
Fold Change: 2.29
Marker Score: 1,186
Cell Name: kidney interstitial fibroblast (CL1000692)
Fold Change: 2.24
Marker Score: 4,305
Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: 2.19
Marker Score: 20,629
Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 2.12
Marker Score: 816
Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 2.08
Marker Score: 127,882
Cell Name: corneal endothelial cell (CL0000132)
Fold Change: 2.07
Marker Score: 1,208
Cell Name: dopaminergic neuron (CL0000700)
Fold Change: 2.07
Marker Score: 21,384
Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 2.03
Marker Score: 3,855
Cell Name: neuron (CL0000540)
Fold Change: 2.02
Marker Score: 8,207
Cell Name: CNS interneuron (CL0000402)
Fold Change: 1.94
Marker Score: 931
Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: 1.93
Marker Score: 18,328
Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: 1.88
Marker Score: 16,144
Cell Name: ON retinal ganglion cell (CL4023032)
Fold Change: 1.88
Marker Score: 513
Cell Name: cerebellar granule cell precursor (CL0002362)
Fold Change: 1.83
Marker Score: 1,027
Cell Name: vascular leptomeningeal cell (CL4023051)
Fold Change: 1.8
Marker Score: 2,067
Cell Name: type A enteroendocrine cell (CL0002067)
Fold Change: 1.72
Marker Score: 695
Cell Name: ganglion interneuron (CL0000397)
Fold Change: 1.72
Marker Score: 522
Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: 1.72
Marker Score: 542
Cell Name: GABAergic neuron (CL0000617)
Fold Change: 1.68
Marker Score: 7,008
Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: 1.65
Marker Score: 2,552
Cell Name: immature innate lymphoid cell (CL0001082)
Fold Change: 1.37
Marker Score: 2,783
Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
Fold Change: 1.37
Marker Score: 459
Cell Name: granulocyte monocyte progenitor cell (CL0000557)
Fold Change: 1.37
Marker Score: 866
Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
Fold Change: 1.3
Marker Score: 782
Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 1.28
Marker Score: 374
Cell Name: skin fibroblast (CL0002620)
Fold Change: 1.16
Marker Score: 301
Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: 1.11
Marker Score: 664
Cell Name: Bergmann glial cell (CL0000644)
Fold Change: 1.06
Marker Score: 433
Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: 1.04
Marker Score: 355
Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 1.04
Marker Score: 251,758
Cell Name: early T lineage precursor (CL0002425)
Fold Change: 1.04
Marker Score: 792
Cell Name: A2 amacrine cell (CL0004219)
Fold Change: 1.02
Marker Score: 324
Cell Name: corneal epithelial cell (CL0000575)
Fold Change: 1.02
Marker Score: 1,124
Cell Name: PP cell (CL0000696)
Fold Change: 1
Marker Score: 226
Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
Fold Change: 1
Marker Score: 71,783
Cell Name: forebrain radial glial cell (CL0013000)
Fold Change: 1
Marker Score: 48,009
Cell Name: absorptive cell (CL0000212)
Fold Change: 0.98
Marker Score: 30,406
Cell Name: podocyte (CL0000653)
Fold Change: 0.96
Marker Score: 355
Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.95
Marker Score: 2,414
Cell Name: smooth muscle cell of prostate (CL1000487)
Fold Change: 0.95
Marker Score: 241
Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.93
Marker Score: 14,562
Cell Name: transit amplifying cell (CL0009010)
Fold Change: 0.93
Marker Score: 5,306
Cell Name: mesangial cell (CL0000650)
Fold Change: 0.92
Marker Score: 1,107
Cell Name: abnormal cell (CL0001061)
Fold Change: 0.92
Marker Score: 2,741
Cell Name: mature microglial cell (CL0002629)
Fold Change: 0.88
Marker Score: 317
Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.88
Marker Score: 513
Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.87
Marker Score: 5,284
Cell Name: rod bipolar cell (CL0000751)
Fold Change: 0.87
Marker Score: 452
Cell Name: microglial cell (CL0000129)
Fold Change: 0.84
Marker Score: 1,521
Cell Name: pancreatic A cell (CL0000171)
Fold Change: 0.83
Marker Score: 808
Cell Name: Mueller cell (CL0000636)
Fold Change: 0.82
Marker Score: 1,134
Cell Name: choroid plexus epithelial cell (CL0000706)
Fold Change: 0.78
Marker Score: 715
Cell Name: intestinal epithelial cell (CL0002563)
Fold Change: 0.77
Marker Score: 1,258
Cell Name: brush cell (CL0002204)
Fold Change: 0.77
Marker Score: 705
Cell Name: Cajal-Retzius cell (CL0000695)
Fold Change: 0.76
Marker Score: 395
Cell Name: ovarian surface epithelial cell (CL2000064)
Fold Change: 0.76
Marker Score: 2,071
Cell Name: precursor B cell (CL0000817)
Fold Change: 0.75
Marker Score: 498
Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
Fold Change: 0.75
Marker Score: 1,772
Cell Name: glutamatergic neuron (CL0000679)
Fold Change: 0.75
Marker Score: 7,587
Cell Name: cardiac neuron (CL0010022)
Fold Change: 0.74
Marker Score: 925
Cell Name: pancreatic D cell (CL0000173)
Fold Change: 0.74
Marker Score: 320
Cell Name: oligodendrocyte (CL0000128)
Fold Change: 0.72
Marker Score: 1,721
Cell Name: neural cell (CL0002319)
Fold Change: 0.72
Marker Score: 347
Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: 0.7
Marker Score: 180
Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
Fold Change: 0.7
Marker Score: 1,875
Cell Name: smooth muscle myoblast (CL0000514)
Fold Change: 0.7
Marker Score: 332
Cell Name: mononuclear cell (CL0000842)
Fold Change: 0.69
Marker Score: 223
Cell Name: visceromotor neuron (CL0005025)
Fold Change: 0.68
Marker Score: 197
Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 0.66
Marker Score: 1,339
Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
Fold Change: 0.66
Marker Score: 559
Cell Name: connective tissue cell (CL0002320)
Fold Change: 0.62
Marker Score: 161

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

**Key Characteristics** CNTN1 is a transmembrane protein with four immunoglobulin-like domains, which enable it to form homophilic or heterophilic interactions with other contactin family members. This protein is specifically expressed in neurons and neural precursors, where it plays a critical role in axon guidance, neuronal migration, and synaptogenesis. CNTN1 is also involved in the regulation of gene expression, particularly in the context of Notch signaling, which is a key pathway in neuronal development. **Pathways and Functions** CNTN1 is integral to several signaling pathways, including: 1. **Notch signaling pathway**: CNTN1 interacts with Notch1 and Notch2, which are key receptors in the Notch signaling pathway. This interaction transmits signals to the nucleus, regulating gene expression and neuronal development. 2. **Axon guidance**: CNTN1 is involved in the guidance of axons during neuronal development, where it interacts with other axonal guidance molecules, such as L1cam and neurofascin. 3. **Cell-cell adhesion**: CNTN1 mediates cell-cell adhesion, particularly between neurons and glial cells, which is essential for maintaining the integrity of the nervous system. 4. **Gene expression regulation**: CNTN1 regulates gene expression through its interaction with Notch signaling, which is critical for neuronal development and differentiation. **Clinical Significance** CNTN1 has been implicated in several neurological disorders, including: 1. **Autism spectrum disorder**: Studies have shown that mutations in CNTN1 are associated with autism spectrum disorder, highlighting its role in neuronal development and synaptic function. 2. **Schizophrenia**: CNTN1 has been implicated in schizophrenia, where it is thought to contribute to the disruption of normal neuronal function and connectivity. 3. **Neurodegenerative diseases**: CNTN1 has been implicated in neurodegenerative diseases, such as Alzheimer's disease and Parkinson's disease, where it is thought to contribute to the disruption of normal neuronal function and connectivity. In conclusion, CNTN1 is a critical protein involved in cell-cell adhesion, axon guidance, and gene expression regulation in the nervous system. Its dysregulation has been implicated in several neurological disorders, highlighting its importance in maintaining normal neuronal function and connectivity. Further research is needed to fully elucidate the role of CNTN1 in neurological disorders and to explore its potential as a therapeutic target. **Additional Considerations** * CNTN1 is also expressed in other tissues, including the immune system, where it may play a role in modulating immune responses. * The protein has been shown to interact with other molecules, such as L1cam and neurofascin, which are involved in axon guidance and neuronal development. * CNTN1 has been implicated in the regulation of sodium ion transport, which is critical for maintaining normal neuronal function. Overall, CNTN1 is a complex protein with multiple roles in the nervous system, and its dysregulation has significant implications for human health. Further research is needed to fully elucidate its role in neurological disorders and to explore its potential as a therapeutic target.

Disclaimer: This summary is generated by an AI language model and may contain inaccuracies or hallucinations. However, it is cross-referenced with curated gene expression data from major biological sources. Please verify the information before use.

Contactin-1

Genular Protein ID: 2609706408

Symbol: CNTN1_HUMAN

Name: Contactin-1

UniProtKB Accession Codes:

Q12860 A8K0H9 A8K0Y3 Q12861 Q14030 Q7M4P0 Q8N466

Database IDs:

Citations:

PubMed ID: 8164510

Title: Identification and characterization of the human cell adhesion molecule contactin.

PubMed ID: 8164510

DOI: 10.1016/0169-328x(94)90372-7

PubMed ID: 7959734

Title: Molecular cloning and in situ localization of the human contactin gene (CNTN1) on chromosome 12q11-q12.

PubMed ID: 7959734

DOI: 10.1006/geno.1994.1316

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 2026173

Title: Isolation and characterization of a membrane glycoprotein from human brain with sequence similarities to cell adhesion proteins from chicken and mouse.

PubMed ID: 2026173

DOI: 10.1111/j.1432-1033.1991.tb15943.x

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 19139490

Title: A strategy for precise and large scale identification of core fucosylated glycoproteins.

PubMed ID: 19139490

DOI: 10.1074/mcp.m800504-mcp200

PubMed ID: 20133774

Title: The protein tyrosine phosphatases PTPRZ and PTPRG bind to distinct members of the contactin family of neural recognition molecules.

PubMed ID: 20133774

DOI: 10.1073/pnas.0911235107

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 19026398

Title: Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy.

PubMed ID: 19026398

DOI: 10.1016/j.ajhg.2008.10.022

Sequence Information:

Length: 1018
Mass: 113320
Checksum: 4B8FDC5BFD434ED5
Sequence:

MKMWLLVSHL VIISITTCLA EFTWYRRYGH GVSEEDKGFG PIFEEQPINT IYPEESLEGK 
VSLNCRARAS PFPVYKWRMN NGDVDLTSDR YSMVGGNLVI NNPDKQKDAG IYYCLASNNY 
GMVRSTEATL SFGYLDPFPP EERPEVRVKE GKGMVLLCDP PYHFPDDLSY RWLLNEFPVF 
ITMDKRRFVS QTNGNLYIAN VEASDKGNYS CFVSSPSITK SVFSKFIPLI PIPERTTKPY 
PADIVVQFKD VYALMGQNVT LECFALGNPV PDIRWRKVLE PMPSTAEIST SGAVLKIFNI 
QLEDEGIYEC EAENIRGKDK HQARIYVQAF PEWVEHINDT EVDIGSDLYW PCVATGKPIP 
TIRWLKNGYA YHKGELRLYD VTFENAGMYQ CIAENTYGAI YANAELKILA LAPTFEMNPM 
KKKILAAKGG RVIIECKPKA APKPKFSWSK GTEWLVNSSR ILIWEDGSLE INNITRNDGG 
IYTCFAENNR GKANSTGTLV ITDPTRIILA PINADITVGE NATMQCAASF DPALDLTFVW 
SFNGYVIDFN KENIHYQRNF MLDSNGELLI RNAQLKHAGR YTCTAQTIVD NSSASADLVV 
RGPPGPPGGL RIEDIRATSV ALTWSRGSDN HSPISKYTIQ TKTILSDDWK DAKTDPPIIE 
GNMEAARAVD LIPWMEYEFR VVATNTLGRG EPSIPSNRIK TDGAAPNVAP SDVGGGGGRN 
RELTITWAPL SREYHYGNNF GYIVAFKPFD GEEWKKVTVT NPDTGRYVHK DETMSPSTAF 
QVKVKAFNNK GDGPYSLVAV INSAQDAPSE APTEVGVKVL SSSEISVHWE HVLEKIVESY 
QIRYWAAHDK EEAANRVQVT SQEYSARLEN LLPDTQYFIE VGACNSAGCG PPSDMIEAFT 
KKAPPSQPPR IISSVRSGSR YIITWDHVVA LSNESTVTGY KVLYRPDGQH DGKLYSTHKH 
SIEVPIPRDG EYVVEVRAHS DGGDGVVSQV KISGAPTLSP SLLGLLLPAF GILVYLEF

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.

Details for: CNTN1

Associated with

Cells (max top 100)

Other Information

Identification and characterization of the human cell adhesion molecule contactin. PubMed ID: 8164510

Molecular cloning and in situ localization of the human contactin gene (CNTN1) on chromosome 12q11-q12. PubMed ID: 7959734

Complete sequencing and characterization of 21,243 full-length human cDNAs. PubMed ID: 14702039

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Isolation and characterization of a membrane glycoprotein from human brain with sequence similarities to cell adhesion proteins from chicken and mouse. PubMed ID: 2026173

Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. PubMed ID: 16335952

A strategy for precise and large scale identification of core fucosylated glycoproteins. PubMed ID: 19139490

The protein tyrosine phosphatases PTPRZ and PTPRG bind to distinct members of the contactin family of neural recognition molecules. PubMed ID: 20133774

The consensus coding sequences of human breast and colorectal cancers. PubMed ID: 16959974

Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. PubMed ID: 19026398