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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... See more...
Aliases for CNTN1 Gene
Aliases for CNTN1 Gene
External Ids for CNTN1 Gene
- HGNC: 2171
- Entrez Gene: 1272
- Ensembl: ENSG00000018236
- OMIM: 600016
- UniProtKB: Q12860
Previous GeneCards Identifiers for CNTN1 Gene
- GC12P041375
- GC12P040985
- GC12P040803
- GC12P039372
- GC12P039508
- GC12P041086
- GC12P038113
Summaries for CNTN1 Gene
-
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]
GeneCards Summary for CNTN1 Gene
CNTN1 (Contactin 1) is a Protein Coding gene. Diseases associated with CNTN1 include Myopathy, Congenital, Compton-North and Myopathy, Congenital. Among its related pathways are Signaling by GPCR and Notch Signaling Pathway (WikiPathways). Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is CNTN5.
UniProtKB/Swiss-Prot Summary for CNTN1 Gene
-
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).
Additional gene information for CNTN1 Gene
- HGNC(2171)
- Entrez Gene(1272)
- Ensembl(ENSG00000018236)
- OMIM(600016)
- UniProtKB(Q12860)
- Open Targets Platform(ENSG00000018236)
- Monarch Initiative
- Search for CNTN1 at DataMed
- Search for CNTN1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNTN1 Gene
Genomics for CNTN1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CNTN1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH12J040692 | Promoter/Enhancer | 1.7 | EPDnew Ensembl ENCODE CraniofacialAtlas | 682.8 | +0.6 | 571 | 2.4 | SP1 PRDM1 ZIC2 PKNOX1 POLR2A EZH2 ZNF600 ZNF341 SCRT2 ZBTB44 | CNTN1 LOC100420117 PDZRN4 | |
| GH12J040827 | Promoter/Enhancer | 0.9 | EPDnew Ensembl | 600.1 | +135.9 | 135872 | 1.4 | ZNF629 PRDM1 ZIC2 POLR2A ZNF341 SCRT2 MAFF MAFK ZNF423 ZNF610 | lnc-MUC19-5 CNTN1 PDZRN4 ENSG00000274682 | |
| GH12J040697 | Enhancer | 0.8 | Ensembl ENCODE | 82.6 | +5.6 | 5572 | 1.2 | ZNF600 CEBPB SP1 JUND ZSCAN5C OSR2 ZBTB17 WT1 FOSL2 SIN3A | CNTN1 LOC100420117 PDZRN4 | |
| GH12J040734 | Enhancer | 0.3 | Ensembl | 40 | +42.9 | 42872 | 1.8 | ZNF189 FEZF1 | CNTN1 ENSG00000257680 lnc-MUC19-3 piR-60246-038 PDZRN4 | |
| GH12J040759 | Enhancer | 0.3 | dbSUPER | 24.3 | +69.5 | 69514 | 5.8 | CTCF GATA2 | CNTN1 piR-60246-038 lnc-MUC19-3 ENSG00000257680 PDZRN4 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CNTN1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNTN1
- Top Transcription factor binding sites by QIAGEN in the CNTN1 gene promoter:
-
- AhR
- Arnt
- C/EBPalpha
- C/EBPbeta
- COMP1
- CUTL1
- ISGF-3
- LCR-F1
- MyoD
- RP58
Genomic Locations for CNTN1 Gene
Genomic Locations for CNTN1 Gene
- chr12:40,692,429-41,072,415
- (GRCh38/hg38)
- Size:
- 379,987 bases
- Orientation:
- Plus strand
- chr12:41,086,244-41,466,220
- (GRCh37/hg19)
- Size:
- 379,977 bases
- Orientation:
- Plus strand
Genomic View for CNTN1 Gene
Genes around CNTN1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12q12 by HGNC
- 12q12 by Entrez Gene
- 12q12 by Ensembl
CNTN1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CNTN1 Gene
Proteins for CNTN1 Gene
-
Protein details for CNTN1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q12860-CNTN1_HUMAN
- Recommended name:
- Contactin-1
- Protein Accession:
- Q12860
- A8K0H9
- A8K0Y3
- Q12861
- Q14030
- Q7M4P0
- Q8N466
Protein attributes for CNTN1 Gene
- Size:
- 1018 amino acids
- Molecular mass:
- 113320 Da
- Quaternary structure:
-
- Monomer. Interacts with CNTNAP1 in cis form (By similarity). Binds to the carbonic-anhydrase like domain of PTPRZ1 (PubMed:20133774). Interacts with NOTCH1 and TNR. Detected in a complex with NRCAM and PTPRB (By similarity).
Protein Expression for CNTN1 Gene
Post-translational modifications for CNTN1 Gene
Other Protein References for CNTN1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences CNTN1 / gp135 / Contactin 1 Antibody (LS-B10585) and CNTN1 / gp135 / Contactin 1 Antibody (LS-B10586)
- Novus Biologicals Antibodies for CNTN1
-
Abcam antibodies for CNTN1
- Invitrogen Antibodies for CNTN1 (AFLGC-Cntn1)
-
Boster Bio Antibodies for CNTN1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CNTN1
- Sino Biological Antibodies for CNTN1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for CNTN1
- Origene Custom Protein Services for CNTN1
- Sino Biological Cell Lysates for CNTN1
- Sino Biological Recombinant Proteins for CNTN1
-
Signalway Proteins for CNTN1
-
Abcam proteins for CNTN1
Assay Products
- G Biosciences Immunotag™ Human CNTN1 (Contactin-1) ELISA and Immunotag™ Contactin-1 ELISA Kit
- RayBiotech Human CNTN1 (Contactin-1) ELISA
- Novus Biologicals ELISA Kits for CNTN1
No data available for DME Specific Peptides for CNTN1 Gene
Domains & Families for CNTN1 Gene
Gene Families for CNTN1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for CNTN1 Gene
- InterPro:
- Blocks:
-
- Immunoglobulin C-2 type
- Immunoglobulin I-set
- ProtoNet:
Suggested Antigen Peptide Sequences for CNTN1 Gene
- GenScript: Design optimal peptide antigens:
-
- Neural cell surface protein F3 (CNTN1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q12860- Family:
-
- Belongs to the immunoglobulin superfamily. Contactin family.
Function for CNTN1 Gene
Molecular function for CNTN1 Gene
- UniProtKB/Swiss-Prot 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:
- contactin,neuronal cell adhesion molecule (Ig superfamily),involved in axon growth,isoforms 1,2
Phenotypes From GWAS Catalog for CNTN1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 21969550 |
| GO:0030246 | carbohydrate binding | IEA | -- |
Phenotypes for CNTN1 Gene
- MGI mutant phenotypes for CNTN1:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for CNTN1:
Animal Models for CNTN1 Gene
- MGI Knock Outs for CNTN1:
-
- Cntn1 Cntn1<tm1Brns>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CNTN1 - Select products 50% OFF >
- * CNTN1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CNTN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNTN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNTN1
miRNA for CNTN1 Gene
- miRTarBase miRNAs that target CNTN1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNTN1
- Browse OriGene Inhibitory RNA Products For CNTN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTN1
Clone Products
- Applied Biological Materials (abm): Clones for CNTN1 - Select products 50% OFF >
- * CNTN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211462
- MG226639
- MG227158
- MR211462
- MR211462L3
- MR211462L4
- MR226639
- MR226639L3
- MR226639L4
- MR227158
- MR227158L3
- MR227158L4
- RC214706
- RC214706L1
- RC214706L2
- RC214706L3
- RC214706L4
- RC220493
- RC220493L3
- RC220493L4
- RC233026
- RC233027
- RG214706
- RG220493
- RG233026
- RG233027
- RR213892
- RR213892L3
- RR213892L4
- MR211462L3V
- MR211462L4V
- MR226639L3V
- MR226639L4V
- MR227158L3V
- MR227158L4V
- RC214706L1V
- RC214706L2V
- RC214706L3V
- RC214706L4V
- RC220493L3V
- RC220493L4V
- RR213892L3V
- RR213892L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CNTN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNTN1
Cell Line Products
-
Horizon Cell Lines for CNTN1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CNTN1 Gene
Localization for CNTN1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CNTN1 Gene
- [Isoform 1]: Cell membrane. Lipid-anchor, GPI-anchor. Extracellular side.
- [Isoform 2]: Cell membrane. Lipid-anchor, GPI-anchor. Extracellular side.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 4 |
| cytoskeleton | 2 |
| nucleus | 2 |
| endosome | 2 |
| golgi apparatus | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| lysosome | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IEA | -- |
| GO:0016020 | membrane | TAS | 7959734 |
| GO:0031225 | anchored component of membrane | IEA | -- |
| GO:0045121 | membrane raft | IEA | -- |
| GO:0070062 | extracellular exosome | HDA | 23533145 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNTN1 Gene
Pathways & Interactions for CNTN1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | NOTCH2 Activation and Transmission of Signal to the Nucleus | ||
| 2 | Notch Signaling Pathway (WikiPathways) | ||
| 3 | Developmental Biology |
.51
|
|
| 4 | L1CAM interactions | ||
| 5 | Signaling by NOTCH1 | ||
Pathways by source for CNTN1 Gene
1 BioSystems pathway for CNTN1 Gene
10 Reactome pathways for CNTN1 Gene
1 KEGG pathway for CNTN1 Gene
1 R&D Systems pathway for CNTN1 Gene
Interacting Proteins for CNTN1 Gene
Selected Interacting proteins:
Q12860-CNTN1_HUMAN
ENSP00000447006
for CNTN1 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CNTN1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007155 | cell adhesion | NAS,IEA | -- |
| GO:0007219 | Notch signaling pathway | IEA | -- |
| GO:0007399 | nervous system development | IEA | -- |
| GO:0010628 | positive regulation of gene expression | IEA | -- |
| GO:0010765 | positive regulation of sodium ion transport | IEA | -- |
No data available for SIGNOR curated interactions for CNTN1 Gene
Transcripts for CNTN1 Gene
mRNA/cDNA for CNTN1 Gene
- 4 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000547702 3033 nts (view in UCSC)
- ENST00000551424 555 nts (view in UCSC)
- ENST00000551295 5667 nts (view in UCSC)
- ENST00000548005 553 nts (view in UCSC)
- ENST00000552248 463 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CNTN1 - Select products 50% OFF >
- * CNTN1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CNTN1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNTN1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNTN1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNTN1
- Browse OriGene Inhibitory RNA Products For CNTN1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNTN1
Clone Products
- Applied Biological Materials (abm): Clones for CNTN1 - Select products 50% OFF >
- * CNTN1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG211462
- MG226639
- MG227158
- MR211462
- MR211462L3
- MR211462L4
- MR226639
- MR226639L3
- MR226639L4
- MR227158
- MR227158L3
- MR227158L4
- RC214706
- RC214706L1
- RC214706L2
- RC214706L3
- RC214706L4
- RC220493
- RC220493L3
- RC220493L4
- RC233026
- RC233027
- RG214706
- RG220493
- RG233026
- RG233027
- RR213892
- RR213892L3
- RR213892L4
- MR211462L3V
- MR211462L4V
- MR226639L3V
- MR226639L4V
- MR227158L3V
- MR227158L4V
- RC214706L1V
- RC214706L2V
- RC214706L3V
- RC214706L4V
- RC220493L3V
- RC220493L4V
- RR213892L3V
- RR213892L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for CNTN1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNTN1
| 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: |
Relevant External Links for CNTN1 Gene
- GeneLoc Exon Structure for
- CNTN1
Expression for CNTN1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Oligodendrocyte Precursor Cells Forebrain White Matter
- Hypothalamus
- Pituitary Gland
- Thalamus
- Fourth Ventricle
- Neural Tube (Nervous System)
-
Skeletal Muscle (Muscoskeletal System)
- Mononuclear Myocytes Hyoid Arch Muscles
- Mononuclear Myocytes Mandibular Arch Muscles
- Muscle Progenitor Cells Mandibular Arch Muscles
- Muscle Progenitor Cells Hyoid Arch Muscles
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Metanephros
-
Hair (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
-
Dermis (Integumentary System)
- Zigzag Dermal Papilla Cells Dermal Papilla
- Guard Dermal Papilla Cells Dermal Papilla
- Inner Cell Mass (Early Embryonic Tissues)
- Spinal Cord (Nervous System)
- Neurons (Uncategorized)
- Oligodendrocytes (Nervous System)
- Glial Cells (Uncategorized)
mRNA differential expression in normal tissues according to GTEx for CNTN1 Gene
This gene is overexpressed in Brain - Cerebellar Hemisphere (x5.5), Brain - Anterior cingulate cortex (BA24) (x4.8), and Brain - Frontal Cortex (BA9) (x4.7).
This gene is overexpressed in Frontal cortex (19.9), Brain (13.9), Fetal Brain (9.9), and Serum (7.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CNTN1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNTN1
SOURCE GeneReport for Unigene cluster for CNTN1 Gene:
Hs.143434mRNA Expression by UniProt/SwissProt for CNTN1 Gene:
Q12860-CNTN1_HUMAN
Tissue specificity:
Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of expression in lung, pancreas, kidney and skeletal muscle.
Evidence on tissue expression from TISSUES for CNTN1 Gene
- Nervous system(4.9)
- Bone marrow(4.2)
- Kidney(2.7)
- Eye(2.5)
- Skin(2.4)
- Heart(2.1)
- Blood(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CNTN1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cheek
- chin
- eye
- face
- head
- jaw
- mandible
- maxilla
- mouth
- nose
- skull
Thorax:
- lung
Pelvis:
- placenta
- uterus
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for CNTN1
-
OriGene qPCR primer pairs and template standards for CNTN1
Gene Expression Assay Products
Orthologs for CNTN1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CNTN1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CNTN1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CNTN1 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CNTN1 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cntn1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cntn1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CNTN1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CNTN1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CNTN1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cntn1 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | cntn1a 30 |
|
||
| cntn1b 31 |
|
OneToOne | |||
| cntn1 30 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Cont 32 |
|
|
|
| Worm (Caenorhabditis elegans) |
Secernentea | C33F10.5b 32 |
|
|
|
| C33F10.5a 32 |
|
|
- Species where no ortholog for CNTN1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for CNTN1 Gene
- ENSEMBL:
- Gene Tree for CNTN1 (if available)
- TreeFam:
- Gene Tree for CNTN1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CNTN1: view image
Paralogs for CNTN1 Gene
Paralogs for CNTN1 Gene
(6) SIMAP similar genes for CNTN1 Gene using alignment to 6 proteins:
- CNTN1_HUMAN
- F8VQW3_HUMAN
- F8VUI8_HUMAN
- F8VUI9_HUMAN
- F8VX96_HUMAN
- H0YIJ1_HUMAN
Variants for CNTN1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNTN1 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 640567 | Uncertain Significance: Myopathy, congenital, compton-north | 40,944,027(+) | G/A | MISSENSE_VARIANT | |
| 641061 | Uncertain Significance: Myopathy, congenital, compton-north | 40,980,940(+) | A/G | MISSENSE_VARIANT | |
| 643635 | Uncertain Significance: Myopathy, congenital, compton-north | 40,918,762(+) | C/T | MISSENSE_VARIANT | |
| 645568 | Uncertain Significance: Myopathy, congenital, compton-north | 40,922,293(+) | G/A | MISSENSE_VARIANT | |
| 650397 | Uncertain Significance: Myopathy, congenital, compton-north | 40,933,490(+) | G/A | MISSENSE_VARIANT |
Residual Variation Intolerance Score:
12.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.79;
47.41% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CNTN1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNTN1 Gene
Disorders for CNTN1 Gene
(13) MalaCards diseases for CNTN1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, congenital, compton-north |
|
|
| myopathy, congenital |
|
|
| demyelinating polyneuropathy |
|
|
| myopathy |
|
|
| generalized epilepsy with febrile seizures plus, type 9 |
|
|
Search CNTN1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CNTN1_HUMAN- Myopathy, congenital, Compton-North (MYPCN) [MIM:612540]: A lethal, autosomal recessive, congenital myopathy characterized by fetal akinesia, neonatal hypotonia, severe muscle weakness, loss of beta2-syntrophin and alpha-dystrobrevin from the muscle sarcolemma and disruption of sarcomeres with disorganization of the Z band. {ECO:0000269 PubMed:19026398}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CNTN1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for CNTN1 Gene
Publications for CNTN1 Gene
- Molecular cloning and in situ localization of the human contactin gene (CNTN1) on chromosome 12q11-q12. (PMID: 7959734) Berglund EO … Ranscht B (Genomics 1994) 2 3 4 23
- Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy. (PMID: 19026398) Compton AG … North KN (American journal of human genetics 2008) 3 4 23
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PMID: 19086053) Gratacòs M … Psychiatric Genetics Network Group (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009) 3 41
- A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D … Ferrucci L (PLoS genetics 2008) 3 41
ExternalLinks
Products for CNTN1 Gene
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Sources for CNTN1 Gene
- (1) GeneCards
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