| Entry |
|
| Gene name |
L1CAM, CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1
|
| Definition |
L1 cell adhesion molecule
|
| Orthology |
| L1 cell adhesion molecule |
|
| Organism |
|
| Pathway |
| Axon guidance | | Cell adhesion molecules (CAMs) |
|
| Disease |
| Hereditary spastic paraplegia (SPG) | | Syndromic X-linked mental retardation with epilepsy or seizures | | L1 syndrome |
|
| Class |
Environmental Information Processing; Signaling molecules and interaction; Cell adhesion molecules (CAMs) [PATH: hsa04514]
Organismal Systems; Development; Axon guidance [PATH: hsa04360]
 |
| SSDB |
   |
| Motif |
 |
| Other DBs |
NCBI-GI: NCBI-GeneID: OMIM: HGNC: HPRD: Ensembl: Vega: UniProt: |
| 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 |