L1CAM
entrez
3897
canonical
uniprot
P32004
canonical
ensembl
ENSG00000198910
resolver
ensp
ENSP00000354712
resolver
ensp
ENSP00000355380
resolver
ensp
ENSP00000359077
resolver
genesymbol
L1CAM
resolver
genesymbol_syn
CAML1
resolver
genesymbol_syn
MIC5
resolver
hgnc
HGNC:6470
resolver
uniprot
A0AV65
resolver
uniprot
A4ZYW4
resolver
uniprot
B2RMU7
resolver
uniprot
G3XAF4
resolver
uniprot
Q8TA87
resolver
uniprot_entry
L1CAM_HUMAN
resolver
uniprot_sec
A0AV65
resolver
uniprot_sec
A4ZYW4
resolver
uniprot_sec
B2RMU7
resolver
uniprot_sec
G3XAF4
resolver
uniprot_sec
Q8TA87
resolver
amino_acid_sequence
MVVALRYVWPLLLCSPCLLIQIPEEYEGHHVMEPPVITEQSPRRLVVFPTDDISLKCEASGKPEVQFRWTRDGVHFKPKEELGVTVYQSPHSGSFTITGNNSNFAQRFQGIYRCFASNKLGTAMSHEIRLMAEGAPKWPKETVKPVEVEEGESVVLPCNPPPSAEPLRIYWMNSKILHIKQDERVTMGQNGNLYFANVLTSDNHSDYICHAHFPGTRTIIQKEPIDLRVKATNSMIDRKPRLLFPTNSSSHLVALQGQPLVLECIAEGFPTPTIKWLRPSGPMPADRVTYQNHNKTLQLLKVGEEDDGEYRCLAENSLGSARHAYYVTVEAAPYWLHKPQSHLYGPGETARLDCQVQGRPQPEVTWRINGIPVEELAKDQKYRIQRGALILSNVQPSDTMVTQCEARNRHGLLLANAYIYVVQLPAKILTADNQTYMAVQGSTAYLLCKAFGAPVPSVQWLDEDGTTVLQDERFFPYANGTLGIRDLQANDTGRYFCLAANDQNNVTIMANLKVKDATQITQGPRSTIEKKGSRVTFTCQASFDPSLQPSITWRGDGRDLQELGDSDKYFIEDGRLVIHSLDYSDQGNYSCVASTELDVVESRAQLLVVGSPGPVPRLVLSDLHLLTQSQVRVSWSPAEDHNAPIEKYDIEFEDKEMAPEKWYSLGKVPGNQTSTTLKLSPYVHYTFRVTAINKYGPGEPSPVSETVVTPEAAPEKNPVDVKGEGNETTNMVITWKPLRWMDWNAPQVQYRVQWRPQGTRGPWQEQIVSDPFLVVSNTSTFVPYEIKVQAVNSQGKGPEPQVTIGYSGEDYPQAIPELEGIEILNSSAVLVKWRPVDLAQVKGHLRGYNVTYWREGSQRKHSKRHIHKDHVVVPANTTSVILSGLRPYSSYHLEVQAFNGRGSGPASEFTFSTPEGVPGHPEALHLECQSNTSLLLRWQPPLSHNGVLTGYVLSYHPLDEGGKGQLSFNLRDPELRTHNLTDLSPHLRYRFQLQATTKEGPGEAIVREGGTMALSGISDFGNISATAGENYSVVSWVPKEGQCNFRFHILFKALGEEKGGASLSPQYVSYNQSSYTQWDLQPDTDYEIHLFKERMFRHQMAVKTNGTGRVRLPPAGFATEGWFIGFVSAIILLLLVLLILCFIKRSKGGKYSVKDKEDTQVDSEARPMKDETFGEYRSLESDNEEKAFGSSQPSLNGDIKPLGSDDSLADYGGSVDVQFNEDGSFIGQYSGKKEKEAAGGNDSSGATSPINPAVALE
uniprot
proteins
disease_involvement
DISEASE: Hydrocephalus, congenital, X-linked (HYCX) [MIM:307000]: An X-linked recessive form of congenital hydrocephalus, a disease characterized by in utero onset of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. HYCX is the most common inherited form and occurs in approximately 1/30000 male births. The primary diagnostic criteria of intellectual disability and enlarged cerebral ventricles are often accompanied by spastic paraparesis and adducted thumbs and, occasionally, visual defects or seizures. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference. Stenosis of the aqueduct of Sylvius is frequently associated with the disorder. {ECO:0000269|PubMed:10797421, ECO:0000269|PubMed:11857550, ECO:0000269|PubMed:12435569, ECO:0000269|PubMed:12514225, ECO:0000269|PubMed:19846429, ECO:0000269|PubMed:20621658, ECO:0000269|PubMed:22344793, ECO:0000269|PubMed:22973895, ECO:0000269|PubMed:24155914, ECO:0000269|PubMed:7562969, ECO:0000269|PubMed:7762552, ECO:0000269|PubMed:7881431, ECO:0000269|PubMed:7920659, ECO:0000269|PubMed:8401576, ECO:0000269|PubMed:8556302, ECO:0000269|PubMed:8929944, ECO:0000269|PubMed:9118141, ECO:0000269|PubMed:9195224, ECO:0000269|PubMed:9268105, ECO:0000269|PubMed:9521424, ECO:0000269|PubMed:9744477, ECO:0000269|PubMed:9832035}. Note=The disease is caused by variants affecting the gene represented in this entry. L1CAM mutations have also been found in few patients affected by hydrocephalus with Hirschsprung disease, suggesting a role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung disease (PubMed:22344793). {ECO:0000269|PubMed:22344793}.; DISEASE: MASA syndrome (MASA) [MIM:303350]: An X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity and hyperreflexia of lower limbs, shuffling gait, intellectual disability, aphasia and adducted thumbs. The features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family. {ECO:0000269|PubMed:10797421, ECO:0000269|PubMed:10805190, ECO:0000269|PubMed:11857550, ECO:0000269|PubMed:16816908, ECO:0000269|PubMed:19846429, ECO:0000269|PubMed:22344793, ECO:0000269|PubMed:22973895, ECO:0000269|PubMed:24155914, ECO:0000269|PubMed:26891472, ECO:0000269|PubMed:7562969, ECO:0000269|PubMed:7762552, ECO:0000269|PubMed:7881431, ECO:0000269|PubMed:7920659, ECO:0000269|PubMed:7920660, ECO:0000269|PubMed:8556302, ECO:0000269|PubMed:9268105, ECO:0000269|PubMed:9300653, ECO:0000269|PubMed:9452110, ECO:0000269|PubMed:9521424, ECO:0000269|PubMed:9744477, ECO:0000269|PubMed:9832035}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in L1CAM may contribute to Hirschsprung disease by modifying the effects of Hirschsprung disease-associated genes to cause intestinal aganglionosis. {ECO:0000269|PubMed:11857550}.; DISEASE: Agenesis of the corpus callosum, X-linked, partial (ACCPX) [MIM:304100]: A syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, intellectual disability, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients. {ECO:0000269|PubMed:16650080}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Note=Defects in L1CAM are associated with a wide phenotypic spectrum which varies from severe hydrocephalus and prenatal death (HYCX) to a milder phenotype (MASA). These variations may even occur within the same family. Due to the overlap of phenotypes between HYCX and MASA, many authors use the general concept of L1 syndrome which covers both ends of the spectrum. {ECO:0000269|PubMed:19846429, ECO:0000269|PubMed:22222883, ECO:0000269|PubMed:26891472}.
uniprot
proteins
function
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. {ECO:0000269|PubMed:20621658, ECO:0000305}.
uniprot
proteins
mass_dalton
140003
uniprot
proteins
mutagenesis
MUTAGEN 1147..1153; /note="KGGKYSV->AGGAASA: Loss of axon guidance, when assayed in a heterologous system, but normal synapse formation."; /evidence="ECO:0000269|PubMed:24155914
uniprot
proteins
protein_family
Immunoglobulin superfamily
uniprot
proteins
protein_family
L1/neurofascin/NgCAM family
uniprot
proteins
pubmed
10797421
uniprot
proteins
pubmed
10805190
uniprot
proteins
pubmed
11857550
uniprot
proteins
pubmed
12435569
uniprot
proteins
pubmed
12514225
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15772651
uniprot
proteins
pubmed
1627459
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
16650080
uniprot
proteins
pubmed
16816908
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
1769655
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19159218
uniprot
proteins
pubmed
1923824
uniprot
proteins
pubmed
1932117
uniprot
proteins
pubmed
19846429
uniprot
proteins
pubmed
1993895
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20621658
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22222883
uniprot
proteins
pubmed
22344793
uniprot
proteins
pubmed
22973895
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
2387585
uniprot
proteins
pubmed
24155914
uniprot
proteins
pubmed
26891472
uniprot
proteins
pubmed
3136168
uniprot
proteins
pubmed
7562969
uniprot
proteins
pubmed
7762552
uniprot
proteins
pubmed
7881431
uniprot
proteins
pubmed
7920659
uniprot
proteins
pubmed
7920660
uniprot
proteins
pubmed
8401576
uniprot
proteins
pubmed
8556302
uniprot
proteins
pubmed
8592152
uniprot
proteins
pubmed
8929944
uniprot
proteins
pubmed
9118141
uniprot
proteins
pubmed
9195224
uniprot
proteins
pubmed
9268105
uniprot
proteins
pubmed
9286695
uniprot
proteins
pubmed
9300653
uniprot
proteins
pubmed
9452110
uniprot
proteins
pubmed
9479034
uniprot
proteins
pubmed
9521424
uniprot
proteins
pubmed
9744477
uniprot
proteins
pubmed
9832035
uniprot
proteins
sequence_length
1257
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:12514225, ECO:0000269|PubMed:20621658, ECO:0000269|PubMed:22973895, ECO:0000269|PubMed:26891472}; Single-pass type I membrane protein {ECO:0000250|UniProtKB:Q05695}. Cell projection, growth cone {ECO:0000250|UniProtKB:Q05695}. Cell projection, axon {ECO:0000269|PubMed:20621658}. Cell projection, dendrite. Note=Colocalized with SHTN1 in close apposition with actin filaments in filopodia and lamellipodia of axonalne growth cones of hippocampal neurons (By similarity). In neurons, detected predominantly in axons and cell body, weak localization to dendrites (PubMed:20621658). {ECO:0000250|UniProtKB:Q05695, ECO:0000269|PubMed:20621658}.
uniprot
proteins
transmembrane_region
TRANSMEM 1121..1143; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins