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CD171; neural cell adhesion molecule L1; N-CAM L1 (L1CAM, CAML1, MIC5)

Function: - cell adhesion molecule - role in the development of the nervous system - involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. - binds to axonin on neurons Structure: - belongs to the immunoglobulin superfamily L1/neurofascin/NgCAM family - contains 5 fibronectin F3 modules - contains 6 Ig-like C2-type domains (immunoglobulin-like) Compartment: cell membrane Alternative splicing: named isoforms=2 Expression: expressed mainly on neurons Pathology: - defects in L1CAM are the cause of: a) hydrocephalus due to aqueductal stenosis b) MASA syndrome (CRASH syndrome) c) spastic paraplegia type 1 d) Hirschsprung disease e) partial agenesis of the corpus callosum

General

cluster-of-differentiation antigen; cluster designation antigen; CD antigen neural cell adhesion molecule

Properties

SIZE: entity length = 1257 aa MW = 140 kD COMPARTMENT: cellular membrane MOTIF: signal sequence {1-19} immunoglobulin superfamily domain {35-125} MOTIF: cysteine residue {C57} MODIFICATION: cysteine residue {C114} N-glycosylation site {N100} cysteine residue {C114} MODIFICATION: cysteine residue {C57} immunoglobulin superfamily domain {139-226} MOTIF: cysteine residue {C158} MODIFICATION: cysteine residue {C209} N-glycosylation site {N203} cysteine residue {C209} MODIFICATION: cysteine residue {C158} immunoglobulin superfamily domain {240-328} MOTIF: N-glycosylation site {N247} cysteine residue {C264} MODIFICATION: cysteine residue {C312} N-glycosylation site {N294} cysteine residue {C312} MODIFICATION: cysteine residue {C264} immunoglobulin superfamily domain {333-420} MOTIF: cysteine residue {C354} MODIFICATION: cysteine residue {C404} cysteine residue {C404} MODIFICATION: cysteine residue {C354} immunoglobulin superfamily domain {425-507} MOTIF: N-glycosylation site {N433} cysteine residue {C448} MODIFICATION: cysteine residue {C497} N-glycosylation site {N479} N-glycosylation site {N490} cysteine residue {C497} MODIFICATION: cysteine residue {C448} N-glycosylation site {N505} immunoglobulin superfamily domain {518-607} MOTIF: cysteine residue {C539} MODIFICATION: cysteine residue {C591} Cell attachment site {554-556} N-glycosylation site {N588} cysteine residue {C591} MODIFICATION: cysteine residue {C539} fibronectin type III domain or F3 module {612-707} MOTIF: N-glycosylation site {N671} fibronectin type III domain or F3 module {714-807} MOTIF: N-glycosylation site {N726} N-glycosylation site {N777} fibronectin type III domain or F3 module {812-913} MOTIF: N-glycosylation site {N825} N-glycosylation site {N849} N-glycosylation site {N876} fibronectin type III domain or F3 module {914-1011} MOTIF: N-glycosylation site {N979} fibronectin type III domain or F3 module {1016-1108} MOTIF: N-glycosylation site {N1022} N-glycosylation site {N1030} N-glycosylation site {N1071} N-glycosylation site {N1105} transmembrane domain {1121-1143} Ser phosphorylation site {S1163} Ser phosphorylation site {S1190} Ser phosphorylation site {S1191} Ser phosphorylation site {S1194} Thr phosphorylation site {T1247} Ser phosphorylation site {S1248}

Database Correlations

OMIM correlations MORBIDMAP 308840 UniProt P32004 PFAM correlations Entrez Gene 3897 Kegg hsa:3897

References

  1. UniProt :accession P32004
  2. Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/L1CAMID44110chXq28.html
  3. L1CAM; L1CAM mutation Web Page http://www.rug.nl/umcg/faculteit/disciplinegroepen/medischegenetica/hereditarydiseases/L1cam/index
  4. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=L1CAM
  5. OMIM :accession 308840
  6. Schachner M, Martini R. Glycans and the modulation of neural-recognition molecule function. Trends Neurosci. 1995 Apr;18(4):183-91. Review. PMID: 7539963
  7. Entrez Gene :accession 3897