KEGG   Homo sapiens (human): 3897
Entry
3897              CDS       T01001                                 

Gene name
L1CAM, CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1
Definition
(RefSeq) L1 cell adhesion molecule
  KO
K06550  L1 cell adhesion molecule
Organism
hsa  Homo sapiens (human)
Pathway
hsa04360  Axon guidance
hsa04514  Cell adhesion molecules
Disease
H00266  Hereditary spastic paraplegia
H01034  L1 syndrome
H02178  MASA syndrome
H02458  Hydrocephalus due to congenital stenosis of aqueduct of sylvius
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04514 Cell adhesion molecules
    3897 (L1CAM)
 09150 Organismal Systems
  09158 Development and regeneration
   04360 Axon guidance
    3897 (L1CAM)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04515 Cell adhesion molecules [BR:hsa04515]
    3897 (L1CAM)
   04090 CD molecules [BR:hsa04090]
    3897 (L1CAM)
   04091 Lectins [BR:hsa04091]
    3897 (L1CAM)
Cell adhesion molecules [BR:hsa04515]
 Immunoglobulin superfamily
  L1 family
   3897 (L1CAM)
CD molecules [BR:hsa04090]
 Proteins
  3897 (L1CAM)
Lectins [BR:hsa04091]
 I-type lectins (Siglecs)
  3897 (L1CAM)
SSDB
Motif
Pfam: Ig_3 I-set fn3 Ig_2 ig Bravo_FIGEY V-set C2-set_2 Pur_ac_phosph_N Ig_5 BiPBP_C Izumo-Ig Laterosporulin
Other DBs
NCBI-GeneID: 3897
NCBI-ProteinID: NP_000416
OMIM: 308840
HGNC: 6470
Ensembl: ENSG00000198910
Vega: OTTHUMG00000024221
Pharos: P32004(Tbio)
UniProt: P32004
Position
Xq28
AA seq 1257 aa
MVVALRYVWPLLLCSPCLLIQIPEEYEGHHVMEPPVITEQSPRRLVVFPTDDISLKCEAS
GKPEVQFRWTRDGVHFKPKEELGVTVYQSPHSGSFTITGNNSNFAQRFQGIYRCFASNKL
GTAMSHEIRLMAEGAPKWPKETVKPVEVEEGESVVLPCNPPPSAEPLRIYWMNSKILHIK
QDERVTMGQNGNLYFANVLTSDNHSDYICHAHFPGTRTIIQKEPIDLRVKATNSMIDRKP
RLLFPTNSSSHLVALQGQPLVLECIAEGFPTPTIKWLRPSGPMPADRVTYQNHNKTLQLL
KVGEEDDGEYRCLAENSLGSARHAYYVTVEAAPYWLHKPQSHLYGPGETARLDCQVQGRP
QPEVTWRINGIPVEELAKDQKYRIQRGALILSNVQPSDTMVTQCEARNRHGLLLANAYIY
VVQLPAKILTADNQTYMAVQGSTAYLLCKAFGAPVPSVQWLDEDGTTVLQDERFFPYANG
TLGIRDLQANDTGRYFCLAANDQNNVTIMANLKVKDATQITQGPRSTIEKKGSRVTFTCQ
ASFDPSLQPSITWRGDGRDLQELGDSDKYFIEDGRLVIHSLDYSDQGNYSCVASTELDVV
ESRAQLLVVGSPGPVPRLVLSDLHLLTQSQVRVSWSPAEDHNAPIEKYDIEFEDKEMAPE
KWYSLGKVPGNQTSTTLKLSPYVHYTFRVTAINKYGPGEPSPVSETVVTPEAAPEKNPVD
VKGEGNETTNMVITWKPLRWMDWNAPQVQYRVQWRPQGTRGPWQEQIVSDPFLVVSNTST
FVPYEIKVQAVNSQGKGPEPQVTIGYSGEDYPQAIPELEGIEILNSSAVLVKWRPVDLAQ
VKGHLRGYNVTYWREGSQRKHSKRHIHKDHVVVPANTTSVILSGLRPYSSYHLEVQAFNG
RGSGPASEFTFSTPEGVPGHPEALHLECQSNTSLLLRWQPPLSHNGVLTGYVLSYHPLDE
GGKGQLSFNLRDPELRTHNLTDLSPHLRYRFQLQATTKEGPGEAIVREGGTMALSGISDF
GNISATAGENYSVVSWVPKEGQCNFRFHILFKALGEEKGGASLSPQYVSYNQSSYTQWDL
QPDTDYEIHLFKERMFRHQMAVKTNGTGRVRLPPAGFATEGWFIGFVSAIILLLLVLLIL
CFIKRSKGGKYSVKDKEDTQVDSEARPMKDETFGEYRSLESDNEEKAFGSSQPSLNGDIK
PLGSDDSLADYGGSVDVQFNEDGSFIGQYSGKKEKEAAGGNDSSGATSPINPAVALE
NT seq 3774 nt   +upstreamnt  +downstreamnt
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

  All links  
Ontology (4)   
   KEGG BRITE (4)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (8)   
   KEGG DISEASE (4)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (24)   
   KEGG ORTHOLOGY (1)   
   RefGene (15)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
   PHAROS (1)   
   VEGA (1)   
Protein sequence (6)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (4)   
DNA sequence (34)   
   RefSeq(nuc) (4)   
   GenBank (15)   
   EMBL (15)   
Protein domain (13)   
   Pfam (13)   
All databases (92)   

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