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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CNTN1 Gene

protein-coding GIFtS: 67
GCID: GC12P041086

contactin 1

Explore 16 diseases affiliated with
CNTN1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Contactin 1¹ ²
F3¹ ²
GP135¹ ²
Glycoprotein Gp135² ³
Neural Cell Surface Protein F3² ³
Contactin-1¹

External Ids:	HGNC: 2171¹	Entrez Gene: 1272²	Ensembl: ENSG00000018236⁷	OMIM: 600016⁵	UniProtKB: Q12860³

Export aliases for CNTN1 gene to outside databases

Previous GC identifers: GC12P041375 GC12P040985 GC12P040803 GC12P039372 GC12P039508 GC12P038113

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CNTN1:

The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol

(GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the

formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants

encoding different isoforms have been found for this gene. (provided by RefSeq, Dec 2011)

UniProtKB/Swiss-Prot: CNTN1_HUMAN, Q12860

Function: Contactins mediate cell surface interactions during nervous system development. Involved in the formation of

paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial

cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1.

Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and

subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of

neurite outgrowth (By similarity)

Gene Wiki entry for CNTN1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CNTN1 gene promoter:
AhR RP58 C/EBPbeta ISGF-3 MyoD CUTL1 LCR-F1 Arnt C/EBPalpha COMP1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CNTN1 promoter sequence

Search SABiosciences Chromatin IP Primers for CNTN1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CNTN1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q11-q12 Ensembl cytogenetic band: 12q12 HGNC cytogenetic band: 12q11-q12

CNTN1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNTN1 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12P041086: view genomic region (about GC identifiers)

Start:	41,086,244 bp from pter	End:	41,465,772 bp from pter
Size:	379,529 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CNTN1_HUMAN, Q12860 (See protein sequence)

Recommended Name: Contactin-1 precursor

Size: 1018 amino acids; 113320 Da

Subunit: Monomer. Interacts with CNTNAP1 in cis form. Binds to the carbonic-anhydrase like domain of protein-tyrosine

phosphatase zeta. Interacts with NOTCH1 and TNR (By similarity)

Subcellular location: Isoform 1: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side

Subcellular location: Isoform 2: Cell membrane; Lipid-anchor, GPI-anchor; Extracellular side

2 PDB 3D structures from and Proteopedia for CNTN1:

2EE2 (3D)

3S97 (3D)

Secondary accessions: A8K0H9 A8K0Y3 Q12861 Q14030 Q7M4P0 Q8N466

Alternative splicing: 3 isoforms: Q12860-1 Q12860-2 Q12860-3 (Ref.3 (BAF82233) sequence is in conflict in position: 610:K->I)

Explore the universe of human proteins at neXtProt for CNTN1: NX_Q12860

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q12860

CNTN1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (4 alternative transcripts):

NP_001242992.1 NP_001242993.1 NP_001834.2 NP_778203.1

ENSEMBL proteins:

ENSP00000448004 ENSP00000450412 ENSP00000447006 ENSP00000447862 ENSP00000447860

ENSP00000448653 ENSP00000449706 ENSP00000261160 ENSP00000449517 ENSP00000325660

ENSP00000353213

Reactome Protein details: Q12860
Human Recombinant Protein Products:

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	Uscn Proteins for CNTN1

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005624	membrane fraction	--	--
GO:0005886	plasma membrane	IEA	--
GO:0016020	membrane	TAS	7959734
GO:0031225	anchored to membrane	IEA	--

CNTN1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for CNTN1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CNTN1 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR003598 Ig_sub2

IPR003961 Fibronectin_type3

IPR013098 Ig_I-set

IPR013783 Ig-like_fold

IPR007110 Ig-like_dom

Graphical View of Domain Structure for InterPro Entry Q12860

ProtoNet protein and cluster: Q12860

2 Blocks protein families:

IPB003598 Immunoglobulin C-2 type

IPB013098 Immunoglobulin I-set

UniProtKB/Swiss-Prot: CNTN1_HUMAN, Q12860

Similarity: Belongs to the immunoglobulin superfamily. Contactin family

Similarity: Contains 4 fibronectin type-III domains

Similarity: Contains 6 Ig-like C2-type (immunoglobulin-like) domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CNTN1_HUMAN, Q12860

Function: Contactins mediate cell surface interactions during nervous system development. Involved in the formation of

paranodal axo-glial junctions in myelinated peripheral nerves and in the signaling between axons and myelinating glial

cells via its association with CNTNAP1. Participates in oligodendrocytes generation by acting as a ligand of NOTCH1.

Its association with NOTCH1 promotes NOTCH1 activation through the released notch intracellular domain (NICD) and

subsequent translocation to the nucleus. Interaction with TNR induces a repulsion of neurons and an inhibition of

neurite outgrowth (By similarity)

Genatlas biochemistry entry for CNTN1:

contactin,neuronal cell adhesion molecule (Ig superfamily),involved in axon growth,isoforms 1,2

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		7 QIAGEN miScript miRNA Assays for microRNAs that regulate CNTN1:
		hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-1279 hsa-miR-548c-3p hsa-miR-3179 hsa-miR-3714
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNTN1

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001948	glycoprotein binding	IEA	--
GO:0005515	protein binding	--	--
GO:0030246	carbohydrate binding	IEA	--

CNTN1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Cntn1^tm1Brns for CNTN1
     7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Cntn1):

behavior/neurological	cellular	growth/size	mortality/aging	muscle
nervous system	vision/eye

CNTN1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant

Signaling by NOTCH1 t(7 9)(NOTCH1:M1580_K2555) Translocation Mutant	1.00	Signaling by NOTCH1 HD Domain Mutants in Cancer	1.00
Signaling by NOTCH1 PEST Domain Mutants in Cancer	1.00	FBXW7 Mutants and NOTCH1 in Cancer	1.00
Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	1.00	Signaling by NOTCH1	1.00
Signaling by NOTCH1 in Cancer	1.00	Signaling by NOTCH	0.77

Axon guidance

	Axon guidance	1.00			L1CAM interactions	0.39
	Developmental Biology	0.69

Neurofascin interactions

Neurofascin interactions

1.00

Disease

Disease

1.00

Notch signaling pathway

Notch signaling pathway

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for CNTN1

	Delta-Notch Signaling Pathway
	Notch signaling pathway

5/16 Reactome Pathways for CNTN1 (see all 16)

	Cleavage of CNTN1:NOTCH1 complex releases NICD1
	L1CAM interactions
	Developmental Biology
	FBXW7 Mutants and NOTCH1 in Cancer
	Signaling by NOTCH1 HD Domain Mutants in Cancer

1 Kegg Pathway (Kegg details for CNTN1):

Cell adhesion molecules (CAMs)

CNTN1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CNTN1

STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

5/28 Interacting proteins for CNTN1 (Q12860^{2, 3} ENSP00000325660⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 28)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MAPK6	Q16659²^,³	MINT-8260889 I2D: score=2
CNTN2	Q02246³, ENSP00000330633⁴	I2D: score=3 STRING: ENSP00000330633
FYN	P06241³, ENSP00000357656⁴	I2D: score=2 STRING: ENSP00000357656
NOTCH2	Q04721³, ENSP00000256646⁴	I2D: score=2 STRING: ENSP00000256646
PTPRB	P23467³, ENSP00000334928⁴	I2D: score=2 STRING: ENSP00000334928

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	IEA	--
GO:0007219	Notch signaling pathway	TAS	--
GO:0007411	axon guidance	TAS	--
GO:0010628	positive regulation of gene expression	IEA	--
GO:0010765	positive regulation of sodium ion transport	IEA	--

CNTN1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CNTN1
Search CenterWatch for drugs/clinical trials and news about CNTN1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CNTN1 gene (4 alternative transcripts):

NM_001256063.1 NM_001256064.1 NM_001843.3 NM_175038.2

Unigene Clusters for CNTN1:

Contactin 1

Hs.143434 [show with all ESTs], Hs.739161 [show with all ESTs], Hs.741112

Unigene Representative Sequences: NM_001843, DA782781, DQ442054

12 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000547702(uc009zjy.2) ENST00000551424 ENST00000551295(uc001rmm.1 uc001rmn.1)

ENST00000548005 ENST00000552248 ENST00000547849(uc001rmo.3) ENST00000552913

ENST00000348761 ENST00000550305 ENST00000548481 ENST00000347616 ENST00000360099

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		hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-1279 hsa-miR-548c-3p hsa-miR-3179 hsa-miR-3714
		SwitchGear 3'UTR luciferase reporter plasmid: CNTN1 3' UTR sequence

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Additional cDNA sequence: DQ442054.1

6 DOTS entries:

DT.113389 DT.95211083 DT.95166909 DT.121203544 DT.100777056 DT.95360529

24/142 AceView cDNA sequences (see all 142):

BM673895 AI624020 BQ896059 NM_175038 N69333 U07820 F07263 AW613973

N54736 BM551641 AL118970 NM_001843 CR601551 AA447116 AL697712 AI656062

BE677621 AA334975 U07819 F01427 BQ025831 BM717031 R92691 CD722522

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for CNTN1 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8	^	9	^	10	^	11	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25a	·	25b
SP1:					-																										-
SP2:																															-
SP3:

ECgene alternative splicing isoforms for CNTN1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CNTN1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CATTCATATT

About this image

CNTN1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Brain

Brain

Brain

Kidney

Neural Tube

Neural Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Matrigel embedded cells (Derivation of cardio...)

See CNTN1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CNTN1

SOURCE GeneReport for Unigene clusters: Hs.143434 Hs.739161 Hs.741112

UniProtKB/Swiss-Prot: CNTN1_HUMAN, Q12860

Tissue specificity: Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of

expression in lung, pancreas, kidney and skeletal muscle

SABiosciences Expression via Pathway-Focused PCR Array including CNTN1:

Extracellular Matrix & Adhesion Molecules in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNTN1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CNTN1 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	CNTN1¹	contactin 1	76.41(n) 77.8(a)		417786 NM_001004381.3 NP_001004381.3
lizard (Anolis carolinensis)	Reptilia	CNTN1⁶ --	--	65(a) 36(a)	1 ↔ 1 possible ortholog	5(55979127-56027447) AAWZ02038983(1406-5953)
African clawed frog (Xenopus laevis)	Amphibia	AB015205.1²	--	74.6(n)		AB015205.1
zebrafish (Danio rerio)	Actinopterygii	cntn1²	contactin 1	72.88(n)		353150 AY138255.1
fruit fly (Drosophila melanogaster)	Insecta	Cont³	cell adhesion	31(a)		82A6 --
worm (Caenorhabditis elegans)	Secernentea	C33F10.5b³ rig-6¹	Protein RIG-6¹	23(a) (best of 2)³ 41.91(n)¹ 27.14(a)¹		II(4798268-4811887)³ 173828¹ NM_062460.2¹ NP_494861.1¹

ENSEMBL Gene Tree for CNTN1 (if available)
TreeFam Gene Tree for CNTN1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CNTN1 gene

CHL1² CNTN2² DSCAM² CNTN6² CNTN5² CNTN4² NFASC² NRCAM²

CNTN3² SDK2² DSCAML1² SDK1² L1CAM²

7 SIMAP similar genes for CNTN1 using alignment to 6 protein entries: CNTN1_HUMAN (see all proteins):

CNTN3 DKFZp781D102 CNTN5 CNTN2 CNTN4 CNTN6

NFASC

CNTN1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs145510600^1,2	C,F,	other	38359374(+)	`GAAATA/G/TAATCC`	12	I M	mis¹		1		NA	4542
rs77885328^1,2	F,	--	38110991(+)	`ATTATT/GCTGCT`	2	--	us2k¹		1		WA	118
rs78003690^1,2	F,	--	38111084(+)	`TAACTG/CGTGTG`	2	--	us2k¹		1		WA	118
rs7965788^1,2	C,	--	38111498(+)	`ttttgC/Tatttt`	2	--	us2k¹		0	--	--	--	--
rs113067799^1,2		--	38111864(+)	`GCACTT/AAAGAT`	2	--	us2k¹		1		CSA	2
rs11177826^1,2	C,H,	--	38111995(+)	`AGCACG/TTTCCT`	2	--	us2k¹		4		NS EA	418
rs66479437^1,2	C	--	38112317(+)	`ACCCTT/-TTTTT`	2	--	us2k¹		1		NA	2
rs11177830^1,2	C,	--	38112975(+)	`CGAGGC/AGAGGA`	2	--	ut5¹		2		WA NA	122
rs77998914^1,2		--	38112988(+)	`GGCGCC/GGGTGG`	2	--	ut5¹		0	--	--	--	--
rs12580505^1,2	H	--	38113327(+)	`CCCTAA/GAAGAG`	2	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CNTN1 (41086244 - 41336244 bp, first 250kb of CNTN1)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 9 variations for CNTN1
2 CNVs: 101492 8726
7 Indels: 25008 25007 11610 42212 61234 45048 39897
Human Gene Mutation Database (HGMD): CNTN1

Locus Specific Mutation Databases (LSDB): CNTN1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CNTN1 for disorders           About GeneDecksing

OMIM gene information: 600016
OMIM disorders: 612540
UniProtKB/Swiss-Prot: CNTN1_HUMAN, Q12860

Defects in CNTN1 are the cause of Compton-North congenital myopathy (CNCM) [MIM:612540]. CNCM is a familial

lethal form of congenital onset muscle weakness, inherited in an autosomal-recessive fashion and characterized by a

secondary loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma, central nervous system

involvement, and fetal akinesia

16 diseases for CNTN1: About MalaCards

myopathy congenital myopathy neuronitis multiple sclerosis

neurodegenerative disease encephalitis lung adenocarcinoma esophageal cancer

esophagitis retinoblastoma adenocarcinoma ischemia

ataxia neuroblastoma arthritis compton-north congenital myopathy

1 disease from the University of Copenhagen DISEASES database for CNTN1:

Encephalitis

3 Novoseek disease relationships for CNTN1 gene About this table

Disease	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
metastasis	5	16510572 (5)
tumors	4	16510572 (3)
cancer	1	16530705 (1)

Human Genome Epidemiology (HuGE) Navigator: CNTN1 (4 documents)

Export disorders for CNTN1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for CNTN1 gene, integrated from 9 sources (see all 55):
(articles sorted by number of sources associating them with CNTN1)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning and in situ localization of the human contactin gene (CNTN1) on chromosome 12q11-q12. (PubMed id 7959734)^{1, 2, 3, 9} Berglund E.O. and Ranscht B. (1994)
Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. (PubMed id 19026398)^{1, 2, 9} Compton A.G....North K.N. (2008)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Overlapping and differential expression of BIG-2, BIG-1, TAG-1, and F3: four members of an axon-associated cell adhesion molecule subgroup of the immunoglobulin superfamily. (PubMed id 8586965)^{1, 3} Yoshihara Y....Mori K. (1995)
Identification and characterization of the human cell adhesion molecule contactin. (PubMed id 8164510)^{1, 2} Reid R.A.... Hemperly J.J. (1994)
Knockdown of contactin-1 expression suppresses invasion and metastasis of lung adenocarcinoma. (PubMed id 16510572)^{1, 9} Su J.L....Kuo M.L. (2006)
Isolation and characterization of a membrane glycoprotein from human brain with sequence similarities to cell adhesion proteins from chicken and mouse. (PubMed id 2026173)^{2, 9} Berglund E.... Carlsson S.R. (1991)
Protein phosphatase 1a interacting proteins in the hum an brain. (PubMed id 22321011)¹ Esteves S.L....da Cruz e Silva E.F. (2012)
Contactin-1 (CNTN-1) overexpression is correlated with advanced clinical stage and lymph node metastasis in oesophageal squamous cell carcinomas. (PubMed id 22581910)¹ Liu P....Zhang S. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 1272	HGNC: 2171	AceView: CNTN1	Ensembl:ENSG00000018236	euGenes: HUgn1272
ECgene: CNTN1	Kegg: 1272	H-InvDB: CNTN1

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CNTN1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CNTN1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for CNTN1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CNTN1 gene:
Search GeneIP for patents involving CNTN1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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