• Gene id: 8506

Gene Summary

• Gene Symbol: CNTNAP1   Gene   UCSC   Ensembl
• Aliases: CASPR, CHN3, CNTNAP, NRXN4, P190
• Gene name: contactin associated protein 1
• Alternate names: contactin-associated protein 1, caspr1, neurexin IV, neurexin-4,
• Gene location: 17q21.2 (42679766: 42699992)     Exons: 25     NC_000017.11
• Gene summary(Entrez): The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putat
• OMIM: 601826

Protein Summary

• Protein general information: P78357  
  • Name: Contactin associated protein 1 (Caspr) (Caspr1) (Neurexin IV) (Neurexin 4) (p190)
  • Length: 1384  
  • Mass: 156267
  • Tissue specificity: Predominantly expressed in brain. Weak expression detected in ovary, pancreas, colon, lung, heart, intestine and testis.
• Sequence:

  MMHLRLFCILLAAVSGAEGWGYYGCDEELVGPLYARSLGASSYYSLLTAPRFARLHGISGWSPRIGDPNPWLQID
  LMKKHRIRAVATQGSFNSWDWVTRYMLLYGDRVDSWTPFYQRGHNSTFFGNVNESAVVRHDLHFHFTARYIRIVP
  LAWNPRGKIGLRLGLYGCPYKADILYFDGDDAISYRFPRGVSRSLWDVFAFSFKTEEKDGLLLHAEGAQGDYVTL
  ELEGAHLLLHMSLGSSPIQPRPGHTTVSAGGVLNDQHWHYVRVDRFGRDVNFTLDGYVQRFILNGDFERLNLDTE
  MFIGGLVGAARKNLAYRHNFRGCIENVIFNRVNIADLAVRRHSRITFEGKVAFRCLDPVPHPINFGGPHNFVQVP
  GFPRRGRLAVSFRFRTWDLTGLLLFSRLGDGLGHVELTLSEGQVNVSIAQSGRKKLQFAAGYRLNDGFWHEVNFV
  AQENHAVISIDDVEGAEVRVSYPLLIRTGTSYFFGGCPKPASRWDCHSNQTAFHGCMELLKVDGQLVNLTLVEGR
  RLGFYAEVLFDTCGITDRCSPNMCEHDGRCYQSWDDFICYCELTGYKGETCHTPLYKESCEAYRLSGKTSGNFTI
  DPDGSGPLKPFVVYCDIRENRAWTVVRHDRLWTTRVTGSSMERPFLGAIQYWNASWEEVSALANASQHCEQWIEF
  SCYNSRLLNTAGGYPYSFWIGRNEEQHFYWGGSQPGIQRCACGLDRSCVDPALYCNCDADQPQWRTDKGLLTFVD
  HLPVTQVVIGDTNRSTSEAQFFLRPLRCYGDRNSWNTISFHTGAALRFPPIRANHSLDVSFYFRTSAPSGVFLEN
  MGGPYCQWRRPYVRVELNTSRDVVFAFDVGNGDENLTVHSDDFEFNDDEWHLVRAEINVKQARLRVDHRPWVLRP
  MPLQTYIWMEYDQPLYVGSAELKRRPFVGCLRAMRLNGVTLNLEGRANASEGTSPNCTGHCAHPRLPCFHGGRCV
  ERYSYYTCDCDLTAFDGPYCNHDIGGFFEPGTWMRYNLQSALRSAAREFSHMLSRPVPGYEPGYIPGYDTPGYVP
  GYHGPGYRLPDYPRPGRPVPGYRGPVYNVTGEEVSFSFSTSSAPAVLLYVSSFVRDYMAVLIKDDGTLQLRYQLG
  TSPYVYQLTTRPVTDGQPHSINITRVYRNLFIQVDYFPLTEQKFSLLVDSQLDSPKALYLGRVMETGVIDPEIQR
  YNTPGFSGCLSGVRFNNVAPLKTHFRTPRPMTAELAEALRVQGELSESNCGAMPRLVSEVPPELDPWYLPPDFPY
  YHDEGWVAILLGFLVAFLLLGLVGMLVLFYLQNHRYKGSYHTNEPKAAHEYHPGSKPPLPTSGPAQVPTPTAAPN
  QAPASAPAPAPTPAPAPGPRDQNLPQILEESRSE

• Structural information:
  • Protein Domains: (25..16-)
    C (/note="F5/8-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00081-)
    (203..35-)
    1 (/note="Laminin-G-like)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00122-)
    (389..53-)
    2 (/note="Laminin-G-like)
    (/evidence="ECO:0000255|PRO-)
  • Interpro: IPR028872  IPR013320  IPR000742  IPR000421  IPR036056   IPR002181  IPR008979  IPR001791  IPR003585  
  • Prosite: PS50026 PS01285 PS01286 PS50022 PS51406 PS50025
  • CDD: cd00057
  • STRING: ENSP00000264638
• Other Databases: GeneCards:  CNTNAP1  Malacards:  CNTNAP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071205	protein localization to juxtaparanode region of axon	ISS	biological process
GO:0022010	central nervous system myelination	IMP	biological process
GO:0022011	myelination in peripheral nervous system	IMP	biological process
GO:0022011	myelination in peripheral nervous system	IMP	biological process
GO:0048812	neuron projection morphogenesis	IMP	biological process
GO:0030913	paranodal junction assembly	IMP	biological process
GO:0022011	myelination in peripheral nervous system	IMP	biological process
GO:0048812	neuron projection morphogenesis	IMP	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0030913	paranodal junction assembly	IEA	biological process
GO:0033270	paranode region of axon	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0030054	cell junction	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0071205	protein localization to juxtaparanode region of axon	IEA	biological process
GO:0050885	neuromuscular process controlling balance	IEA	biological process
GO:0031175	neuron projection development	IEA	biological process
GO:0019227	neuronal action potential propagation	IEA	biological process
GO:0007010	cytoskeleton organization	IEA	biological process
GO:0002175	protein localization to paranode region of axon	IEA	biological process
GO:0048787	presynaptic active zone membrane	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0050884	neuromuscular process controlling posture	IEA	biological process
GO:0048812	neuron projection morphogenesis	IEA	biological process
GO:0033270	paranode region of axon	IEA	cellular component
GO:0030913	paranodal junction assembly	IEA	biological process
GO:0033270	paranode region of axon	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0017124	SH3 domain binding	ISS	molecular function
GO:0002175	protein localization to paranode region of axon	ISS	biological process
GO:0007010	cytoskeleton organization	ISS	biological process
GO:0019227	neuronal action potential propagation	ISS	biological process
GO:0016021	integral component of membrane	ISS	cellular component
GO:0030913	paranodal junction assembly	ISS	biological process
GO:0033270	paranode region of axon	ISS	cellular component
GO:0033270	paranode region of axon	ISS	cellular component
GO:0048812	neuron projection morphogenesis	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0033010	paranodal junction	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04514	Cell adhesion molecules

Diseases

Associated diseases	References
Lethal congenital contractural syndrome	KEGG:H00865
Congenital hypomyelinating neuropathy	KEGG:H02357
Lethal congenital contractural syndrome	KEGG:H00865
Congenital hypomyelinating neuropathy	KEGG:H02357
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq