L1CAM

GENERAL INFORMATION

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Gene name

L1CAM

Gene description

L1 cell adhesion molecule

Protein class

CD markers
Disease related genes
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Predicted secreted proteins

Predicted localization

Intracellular,Membrane,Secreted

Number of transcripts

10
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Tissue enhanced (adrenal gland, cerebral cortex)
GTEx:Tissue enhanced (cerebellum)

Protein evidence

Evidence at protein level

Protein localization

Cytoplasmic and membranous expression in a subset of tissues, most abundant in distal kidney tubules, neuropil and peripheral nerves.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA005830 , CAB010896
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Duodenum

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (adrenal gland, cerebral cortex)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cerebellum)

Organ

Expression



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

Cytoband

q28

Chromosome location (bp)

153861514 - 153909223

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000198910 (version 78.38)

Entrez gene

3897

UniProt

P32004 (UniProt - Evidence at protein level)

neXtProt

NX_P32004

Antibodypedia

L1CAM antibodies


PROTEIN BROWSER

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ENST00000361699
 
ENST00000361981
 
ENST00000370055
 
ENST00000370058
 
ENST00000370060
 
ENST00000407935
 
ENST00000420165
 
ENST00000439496
 
ENST00000455590
 
ENST00000458029
 
 
 
 


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 »
Show » 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 » Show » 190 21.5 No 0
L1CAM-008 ENSP00000392524
ENST00000420165
E7EMY4
Show all »
Show » 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 » Show » 151 17.1 Yes 0
L1CAM-017 ENSP00000384902
ENST00000407935
E7EVM4
Show all »
Show » Show » 128 14.5 Yes 0
L1CAM-201 ENSP00000354712
ENST00000361981
P32004
Show all »
Show » Show » 1248 138.9 Yes 1