Neural cell adhesion molecule L1

Details

Name
Neural cell adhesion molecule L1
Synonyms
  • CAML1
  • MIC5
  • N-CAM-L1
Gene Name
L1CAM
Organism
Humans
Amino acid sequence
>lcl|BSEQ0049712|Neural cell adhesion molecule L1
MVVALRYVWPLLLCSPCLLIQIPEEYEGHHVMEPPVITEQSPRRLVVFPTDDISLKCEAS
GKPEVQFRWTRDGVHFKPKEELGVTVYQSPHSGSFTITGNNSNFAQRFQGIYRCFASNKL
GTAMSHEIRLMAEGAPKWPKETVKPVEVEEGESVVLPCNPPPSAEPLRIYWMNSKILHIK
QDERVTMGQNGNLYFANVLTSDNHSDYICHAHFPGTRTIIQKEPIDLRVKATNSMIDRKP
RLLFPTNSSSHLVALQGQPLVLECIAEGFPTPTIKWLRPSGPMPADRVTYQNHNKTLQLL
KVGEEDDGEYRCLAENSLGSARHAYYVTVEAAPYWLHKPQSHLYGPGETARLDCQVQGRP
QPEVTWRINGIPVEELAKDQKYRIQRGALILSNVQPSDTMVTQCEARNRHGLLLANAYIY
VVQLPAKILTADNQTYMAVQGSTAYLLCKAFGAPVPSVQWLDEDGTTVLQDERFFPYANG
TLGIRDLQANDTGRYFCLAANDQNNVTIMANLKVKDATQITQGPRSTIEKKGSRVTFTCQ
ASFDPSLQPSITWRGDGRDLQELGDSDKYFIEDGRLVIHSLDYSDQGNYSCVASTELDVV
ESRAQLLVVGSPGPVPRLVLSDLHLLTQSQVRVSWSPAEDHNAPIEKYDIEFEDKEMAPE
KWYSLGKVPGNQTSTTLKLSPYVHYTFRVTAINKYGPGEPSPVSETVVTPEAAPEKNPVD
VKGEGNETTNMVITWKPLRWMDWNAPQVQYRVQWRPQGTRGPWQEQIVSDPFLVVSNTST
FVPYEIKVQAVNSQGKGPEPQVTIGYSGEDYPQAIPELEGIEILNSSAVLVKWRPVDLAQ
VKGHLRGYNVTYWREGSQRKHSKRHIHKDHVVVPANTTSVILSGLRPYSSYHLEVQAFNG
RGSGPASEFTFSTPEGVPGHPEALHLECQSNTSLLLRWQPPLSHNGVLTGYVLSYHPLDE
GGKGQLSFNLRDPELRTHNLTDLSPHLRYRFQLQATTKEGPGEAIVREGGTMALSGISDF
GNISATAGENYSVVSWVPKEGQCNFRFHILFKALGEEKGGASLSPQYVSYNQSSYTQWDL
QPDTDYEIHLFKERMFRHQMAVKTNGTGRVRLPPAGFATEGWFIGFVSAIILLLLVLLIL
CFIKRSKGGKYSVKDKEDTQVDSEARPMKDETFGEYRSLESDNEEKAFGSSQPSLNGDIK
PLGSDDSLADYGGSVDVQFNEDGSFIGQYSGKKEKEAAGGNDSSGATSPINPAVALE
Number of residues
1257
Molecular Weight
140001.87
Theoretical pI
Not Available
GO Classification
Functions
protein domain specific binding
Processes
axon development / axon guidance / cell adhesion / cell migration / cell-matrix adhesion / chemotaxis / leukocyte migration / nervous system development / neuron projection development / positive regulation of axon extension / synapse organization
Components
axon / axonal growth cone / cell surface / dendrite / focal adhesion / integral component of membrane / neuronal cell body / plasma membrane
General Function
Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity.
Specific Function
Protein domain specific binding
Pfam Domain Function
Transmembrane Regions
1121-1143
Cellular Location
Cell membrane
Gene sequence
>lcl|BSEQ0049713|Neural cell adhesion molecule L1 (L1CAM)
ATGGTCGTGGCGCTGCGGTACGTGTGGCCTCTCCTCCTCTGCAGCCCCTGCCTGCTTATC
CAGATCCCCGAGGAATATGAAGGACACCATGTGATGGAGCCACCTGTCATCACGGAACAG
TCTCCACGGCGCCTGGTTGTCTTCCCCACAGATGACATCAGCCTCAAGTGTGAGGCCAGT
GGCAAGCCCGAAGTGCAGTTCCGCTGGACGAGGGATGGTGTCCACTTCAAACCCAAGGAA
GAGCTGGGTGTGACCGTGTACCAGTCGCCCCACTCTGGCTCCTTCACCATCACGGGCAAC
AACAGCAACTTTGCTCAGAGGTTCCAGGGCATCTACCGCTGCTTTGCCAGCAATAAGCTG
GGCACCGCCATGTCCCATGAGATCCGGCTCATGGCCGAGGGTGCCCCCAAGTGGCCAAAG
GAGACAGTGAAGCCCGTGGAGGTGGAGGAAGGGGAGTCAGTGGTTCTGCCTTGCAACCCT
CCCCCAAGTGCAGAGCCTCTCCGGATCTACTGGATGAACAGCAAGATCTTGCACATCAAG
CAGGACGAGCGGGTGACGATGGGCCAGAACGGCAACCTCTACTTTGCCAATGTGCTCACC
TCCGACAACCACTCAGACTACATCTGCCACGCCCACTTCCCAGGCACCAGGACCATCATT
CAGAAGGAACCCATTGACCTCCGGGTCAAGGCCACCAACAGCATGATTGACAGGAAGCCG
CGCCTGCTCTTCCCCACCAACTCCAGCAGCCACCTGGTGGCCTTGCAGGGGCAGCCATTG
GTCCTGGAGTGCATCGCCGAGGGCTTTCCCACGCCCACCATCAAATGGCTGCGCCCCAGT
GGCCCCATGCCAGCCGACCGTGTCACCTACCAGAACCACAACAAGACCCTGCAGCTGCTG
AAAGTGGGCGAGGAGGATGATGGCGAGTACCGCTGCCTGGCCGAGAACTCACTGGGCAGT
GCCCGGCATGCGTACTATGTCACCGTGGAGGCTGCCCCGTACTGGCTGCACAAGCCCCAG
AGCCATCTATATGGGCCAGGAGAGACTGCCCGCCTGGACTGCCAAGTCCAGGGCAGGCCC
CAACCAGAGGTCACCTGGAGAATCAACGGGATCCCTGTGGAGGAGCTGGCCAAAGACCAG
AAGTACCGGATTCAGCGTGGCGCCCTGATCCTGAGCAACGTGCAGCCCAGTGACACAATG
GTGACCCAATGTGAGGCCCGCAACCGGCACGGGCTCTTGCTGGCCAATGCCTACATCTAC
GTTGTCCAGCTGCCAGCCAAGATCCTGACTGCGGACAATCAGACGTACATGGCTGTCCAG
GGCAGCACTGCCTACCTTCTGTGCAAGGCCTTCGGAGCGCCTGTGCCCAGTGTTCAGTGG
CTGGACGAGGATGGGACAACAGTGCTTCAGGACGAACGCTTCTTCCCCTATGCCAATGGG
ACCCTGGGCATTCGAGACCTCCAGGCCAATGACACCGGACGCTACTTCTGCCTGGCTGCC
AATGACCAAAACAATGTTACCATCATGGCTAACCTGAAGGTTAAAGATGCAACTCAGATC
ACTCAGGGGCCCCGCAGCACAATCGAGAAGAAAGGTTCCAGGGTGACCTTCACGTGCCAG
GCCTCCTTTGACCCCTCCTTGCAGCCCAGCATCACCTGGCGTGGGGACGGTCGAGACCTC
CAGGAGCTTGGGGACAGTGACAAGTACTTCATAGAGGATGGGCGCCTGGTCATCCACAGC
CTGGACTACAGCGACCAGGGCAACTACAGCTGCGTGGCCAGTACCGAACTGGATGTGGTG
GAGAGTAGGGCACAGCTCTTGGTGGTGGGGAGCCCTGGGCCGGTGCCACGGCTGGTGCTG
TCCGACCTGCACCTGCTGACGCAGAGCCAGGTGCGCGTGTCCTGGAGTCCTGCAGAAGAC
CACAATGCCCCCATTGAGAAATATGACATTGAATTTGAGGACAAGGAAATGGCGCCTGAA
AAATGGTACAGTCTGGGCAAGGTTCCAGGGAACCAGACCTCTACCACCCTCAAGCTGTCG
CCCTATGTCCACTACACCTTTAGGGTTACTGCCATAAACAAATATGGCCCCGGGGAGCCC
AGCCCGGTCTCTGAGACTGTGGTCACACCTGAGGCAGCCCCAGAGAAGAACCCTGTGGAT
GTGAAGGGGGAAGGAAATGAGACCACCAATATGGTCATCACGTGGAAGCCGCTCCGGTGG
ATGGACTGGAACGCCCCCCAGGTTCAGTACCGCGTGCAGTGGCGCCCTCAGGGGACACGA
GGGCCCTGGCAGGAGCAGATTGTCAGCGACCCCTTCCTGGTGGTGTCCAACACGTCCACC
TTCGTGCCCTATGAGATCAAAGTCCAGGCCGTCAACAGCCAGGGCAAGGGACCAGAGCCC
CAGGTCACTATCGGCTACTCTGGAGAGGACTACCCCCAGGCAATCCCTGAGCTGGAAGGC
ATTGAAATCCTCAACTCAAGTGCCGTGCTGGTCAAGTGGCGGCCGGTGGACCTGGCCCAG
GTCAAGGGCCACCTCCGCGGATACAATGTGACGTACTGGAGGGAGGGCAGTCAGAGGAAG
CACAGCAAGAGACATATCCACAAAGACCATGTGGTGGTGCCCGCCAACACCACCAGTGTC
ATCCTCAGTGGCTTGCGGCCCTATAGCTCCTACCACCTGGAGGTGCAGGCCTTTAACGGG
CGAGGATCGGGGCCCGCCAGCGAGTTCACCTTCAGCACCCCAGAGGGAGTGCCTGGCCAC
CCCGAGGCGTTGCACCTGGAGTGCCAGTCGAACACCAGCCTGCTGCTGCGCTGGCAGCCC
CCACTCAGCCACAACGGCGTGCTCACCGGCTACGTGCTCTCCTACCACCCCCTGGATGAG
GGGGGCAAGGGGCAACTGTCCTTCAACCTTCGGGACCCCGAACTTCGGACACACAACCTG
ACCGATCTCAGCCCCCACCTGCGGTACCGCTTCCAGCTTCAGGCCACCACCAAAGAGGGC
CCTGGTGAAGCCATCGTACGGGAAGGAGGCACTATGGCCTTGTCTGGGATCTCAGATTTT
GGCAACATCTCAGCCACAGCGGGTGAAAACTACAGTGTCGTCTCCTGGGTCCCCAAGGAG
GGCCAGTGCAACTTCAGGTTCCATATCTTGTTCAAAGCCTTGGGAGAAGAGAAGGGTGGG
GCTTCCCTTTCGCCACAGTATGTCAGCTACAACCAGAGCTCCTACACGCAGTGGGACCTG
CAGCCTGACACTGACTACGAGATCCACTTGTTTAAGGAGAGGATGTTCCGGCACCAAATG
GCTGTGAAGACCAATGGCACAGGCCGCGTGAGGCTCCCTCCTGCTGGCTTCGCCACTGAG
GGCTGGTTCATCGGCTTTGTGAGTGCCATCATCCTCCTGCTCCTCGTCCTGCTCATCCTC
TGCTTCATCAAGCGCAGCAAGGGCGGCAAATACTCAGTGAAGGATAAGGAGGACACCCAG
GTGGACTCTGAGGCCCGACCGATGAAAGATGAGACCTTCGGCGAGTACAGGTCCCTGGAG
AGTGACAACGAGGAGAAGGCCTTTGGCAGCAGCCAGCCATCGCTCAACGGGGACATCAAG
CCCCTGGGCAGTGACGACAGCCTGGCCGATTATGGGGGCAGCGTGGATGTTCAGTTCAAC
GAGGATGGTTCGTTCATTGGCCAGTACAGTGGCAAGAAGGAGAAGGAGGCGGCAGGGGGC
AATGACAGCTCAGGGGCCACTTCCCCCATCAACCCTGCCGTGGCCCTAGAATAG
Chromosome Location
X
Locus
Xq28
External Identifiers
ResourceLink
UniProtKB IDP32004
UniProtKB Entry NameL1CAM_HUMAN
HGNC IDHGNC:6470
General References
  1. Kobayashi M, Miura M, Asou H, Uyemura K: Molecular cloning of cell adhesion molecule L1 from human nervous tissue: a comparison of the primary sequences of L1 molecules of different origin. Biochim Biophys Acta. 1991 Oct 8;1090(2):238-40. [PubMed:1932117]
  2. Hlavin ML, Lemmon V: Molecular structure and functional testing of human L1CAM: an interspecies comparison. Genomics. 1991 Oct;11(2):416-23. [PubMed:1769655]
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  4. Brenner V, Nyakatura G, Rosenthal A, Platzer M: Genomic organization of two novel genes on human Xq28: compact head to head arrangement of IDH gamma and TRAP delta is conserved in rat and mouse. Genomics. 1997 Aug 15;44(1):8-14. [PubMed:9286695]
  5. Coutelle O, Nyakatura G, Taudien S, Elgar G, Brenner S, Platzer M, Drescher B, Jouet M, Kenwrick S, Rosenthal A: The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu. Gene. 1998 Feb 16;208(1):7-15. [PubMed:9479034]
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  35. Du YZ, Srivastava AK, Schwartz CE: Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene. Hum Mutat. 1998;11(3):222-30. [PubMed:9521424]
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  37. Saugier-Veber P, Martin C, Le Meur N, Lyonnet S, Munnich A, David A, Henocq A, Heron D, Jonveaux P, Odent S, Manouvrier S, Moncla A, Morichon N, Philip N, Satge D, Tosi M, Frebourg T: Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. Hum Mutat. 1998;12(4):259-66. [PubMed:9744477]
  38. Michaelis RC, Du YZ, Schwartz CE: The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. J Med Genet. 1998 Nov;35(11):901-4. [PubMed:9832035]
  39. Finckh U, Schroder J, Ressler B, Veske A, Gal A: Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. Am J Med Genet. 2000 May 1;92(1):40-6. [PubMed:10797421]
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Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB00898EthanolapprovedunknownDetails