L1CAM

GENE INFORMATION

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Gene name

L1CAM (HGNC Symbol)

Synonyms

CD171, HSAS, HSAS1, MASA, MIC5, S10, SPG1

Description

L1 cell adhesion molecule (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]

Chromosome

X (Chromosome progress)

Cytoband

q28

Chromosome location (bp)

153126969 - 153174677

Ensembl

ENSG00000198910 (version 73.37)

Entrez gene

3897

UniProt

P32004 (UniProt - Evidence at protein level)

neXtProt

NX_P32004

Antibodypedia

L1CAM antibodies
 

PROTEIN VIEW

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 « 
 
L1CAM-001
 
L1CAM-002
 
L1CAM-003
 
L1CAM-006
 
L1CAM-007
 
L1CAM-008
 
L1CAM-010
 
L1CAM-011
 
L1CAM-017
 
L1CAM-201
 
L1CAM-202
 
L1CAM-203
 
L1CAM-204
 
 » 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

L1CAM-001 ENSP00000359077
ENST00000370060
P32004
Show all »
Show » Show » 1257 140 Yes 1
L1CAM-002 ENSP00000355380
ENST00000361699
P32004
Show all »
Show » Show » 1253 139.5 Yes 1
L1CAM-003 ENSP00000359075
ENST00000370058
H3BLW5
Show all »
153 16.7 No 0
L1CAM-006 ENSP00000359072
ENST00000370055
P32004
Show all »
Show » Show » 1248 138.9 Yes 1
L1CAM-007 ENSP00000397792
ENST00000455590
Q7Z2J8
Show all »
Show » 190 21.5 No 0
L1CAM-008 ENSP00000392524
ENST00000420165
E7EMY4
Show all »
Show » 90 10.3 Yes 0
L1CAM-010 ENSP00000396079
ENST00000458029
E9PHJ4
Show all »
Show » Show » 84 9.7 Yes 0
L1CAM-011 ENSP00000402407
ENST00000439496
E7EPI4
Show all »
Show » 151 17.1 Yes 0
L1CAM-017 ENSP00000384902
ENST00000407935
E7EVM4
Show all »
Show » 128 14.5 Yes 0
L1CAM-201 ENSP00000354712
ENST00000361981
P32004
Show all »
Show » Show » 1248 138.9 Yes 1
L1CAM-202 ENSP00000359074
ENST00000370057
P32004
Show all »
Show » Show » 1257 140 Yes 1
L1CAM-203 ENSP00000439645
ENST00000538883
F5H1H0
Show all »
Show » Show » 1255 139.7 Yes 1
L1CAM-204 ENSP00000438430
ENST00000543994
F5H025
Show all »
Show » Show » 1259 140.2 Yes 1