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GENE AND PROTEIN SUMMARY

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Gene name

L1CAM

Description

L1 cell adhesion molecule

Protein class

CD markers, Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Potentially secreted proteins

Protein evidence

High

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 three X-linked neurological syndromes known by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of a neuron-specific exon is thought to be functionally relevant. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

13 in total
7 with predicted TM region
11 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Plasma membrane

Additional location(s)

Nucleoli, Nucleus but not nucleoli 

Staining summary

Mainly localized to the plasma membrane but also to the nucleus.

Reliability (APE)

Medium

Antibodies in assay

HPA005830, CAB010896
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

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

Tissue specificity

Expressed in 15 out of 81 cell types

Reliability (APE)

Medium

Antibodies in assay

HPA005830, CAB010896
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 12
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 52% of the cancers

Antibodies in assay

HPA005830, CAB010896
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

HPA005830

CAB010896

HPA005830

CAB010896

A-431 Skin High
Strong
A-549 Lung Medium
CACO-2 Colon High
HEK 293 Embryonal kidney Low
HeLa Cervix High
Hep-G2 Liver Low
MCF-7 Pleural effusion High
PC-3 Bone marrow Low
RT-4 Urinary bladder Low
U-2 OS Bone Medium
Moderate
U-251 MG Brain High
ModerateModerate

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

HPA005830 pAb
CAB010896 mAb