• Gene id: 1272

Gene Summary

• Gene Symbol: CNTN1   Gene   UCSC   Ensembl
• Aliases: F3, GP135, MYPCN
• Gene name: contactin 1
• Alternate names: contactin-1, glycoprotein gP135, neural cell surface protein F3,
• Gene location: 12q12 (40692428: 41072414)     Exons: 29     NC_000012.12
• Gene summary(Entrez): 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 connectio
• OMIM: 600016

Protein Summary

• Protein general information: Q12860  
  • Name: Contactin 1 (Glycoprotein gp135) (Neural cell surface protein F3)
  • Length: 1018  
  • Mass: 113320
  • Tissue specificity: Strongly expressed in brain and in neuroblastoma and retinoblastoma cell lines. Lower levels of expression in lung, pancreas, kidney and skeletal muscle. {ECO
• Sequence:

  MKMWLLVSHLVIISITTCLAEFTWYRRYGHGVSEEDKGFGPIFEEQPINTIYPEESLEGKVSLNCRARASPFPVY
  KWRMNNGDVDLTSDRYSMVGGNLVINNPDKQKDAGIYYCLASNNYGMVRSTEATLSFGYLDPFPPEERPEVRVKE
  GKGMVLLCDPPYHFPDDLSYRWLLNEFPVFITMDKRRFVSQTNGNLYIANVEASDKGNYSCFVSSPSITKSVFSK
  FIPLIPIPERTTKPYPADIVVQFKDVYALMGQNVTLECFALGNPVPDIRWRKVLEPMPSTAEISTSGAVLKIFNI
  QLEDEGIYECEAENIRGKDKHQARIYVQAFPEWVEHINDTEVDIGSDLYWPCVATGKPIPTIRWLKNGYAYHKGE
  LRLYDVTFENAGMYQCIAENTYGAIYANAELKILALAPTFEMNPMKKKILAAKGGRVIIECKPKAAPKPKFSWSK
  GTEWLVNSSRILIWEDGSLEINNITRNDGGIYTCFAENNRGKANSTGTLVITDPTRIILAPINADITVGENATMQ
  CAASFDPALDLTFVWSFNGYVIDFNKENIHYQRNFMLDSNGELLIRNAQLKHAGRYTCTAQTIVDNSSASADLVV
  RGPPGPPGGLRIEDIRATSVALTWSRGSDNHSPISKYTIQTKTILSDDWKDAKTDPPIIEGNMEAARAVDLIPWM
  EYEFRVVATNTLGRGEPSIPSNRIKTDGAAPNVAPSDVGGGGGRNRELTITWAPLSREYHYGNNFGYIVAFKPFD
  GEEWKKVTVTNPDTGRYVHKDETMSPSTAFQVKVKAFNNKGDGPYSLVAVINSAQDAPSEAPTEVGVKVLSSSEI
  SVHWEHVLEKIVESYQIRYWAAHDKEEAANRVQVTSQEYSARLENLLPDTQYFIEVGACNSAGCGPPSDMIEAFT
  KKAPPSQPPRIISSVRSGSRYIITWDHVVALSNESTVTGYKVLYRPDGQHDGKLYSTHKHSIEVPIPRDGEYVVE
  VRAHSDGGDGVVSQVKISGAPTLSPSLLGLLLPAFGILVYLEF

• Structural information:
  • Protein Domains: (41..13-)
    1 (/note="Ig-like-C2-type)
    (137..22-)
    2 (/note="Ig-like-C2-type)
    (241..32-)
    3 (/note="Ig-like-C2-type)
    (331..40-)
    4 (/note="Ig-like-C2-type)
    (413..50-)
    5 (/note="Ig-like-C2-type)
    (504..60-)
    (/note="Ig-lik-)
  • Interpro: IPR036992  IPR003961  IPR036116  IPR007110  IPR036179   IPR013783  IPR013098  IPR003599  IPR003598  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 2EE2 3S97
  • PDBsum: 2EE2 3S97
  • DIP: 59714
  • STRING: ENSP00000447006
• Other Databases: GeneCards:  CNTN1  Malacards:  CNTN1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031175	neuron projection development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	NAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0050731	positive regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0045121	membrane raft	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0021549	cerebellum development	IEA	biological process
GO:0010765	positive regulation of sodium ion transport	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0099026	anchored component of presynaptic membrane	IEA	cellular component
GO:0099025	anchored component of postsynaptic membrane	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R