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Aliases for L1CAM Gene

Aliases for L1CAM Gene

  • L1 Cell Adhesion Molecule 2 3 5
  • Antigen Identified By Monoclonal Antibody R1 2 3
  • N-CAM-L1 3 4
  • NCAM-L1 3 4
  • CAML1 3 4
  • MIC5 3 4
  • CD171 Antigen 4
  • N-CAML1 3
  • CD171 3
  • HSAS1 3
  • MASA 3
  • HSAS 3
  • SPG1 3
  • S10 3

External Ids for L1CAM Gene

Previous HGNC Symbols for L1CAM Gene

  • HSAS1
  • SPG1
  • HSAS
  • MASA
  • MIC5
  • S10

Previous GeneCards Identifiers for L1CAM Gene

  • GC0XM147264
  • GC0XM149581
  • GC0XM150712
  • GC0XM151595
  • GC0XM152648
  • GC0XM152780
  • GC0XM153126
  • GC0XM141783

Summaries for L1CAM Gene

Entrez Gene Summary for L1CAM Gene

  • 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]

GeneCards Summary for L1CAM Gene

L1CAM (L1 Cell Adhesion Molecule) is a Protein Coding gene. Diseases associated with L1CAM include masa syndrome and hydrocephalus due to aqueductal stenosis. Among its related pathways are Platelet activation, signaling and aggregation and Developmental Biology. GO annotations related to this gene include identical protein binding and protein self-association. An important paralog of this gene is DSCAML1.

UniProtKB/Swiss-Prot for L1CAM Gene

  • Cell adhesion molecule with an important role in the development of the nervous system. Involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. Binds to axonin on neurons.

Gene Wiki entry for L1CAM Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for L1CAM Gene

Genomics for L1CAM Gene

Regulatory Elements for L1CAM Gene

Genomic Location for L1CAM Gene

Chromosome:
X
Start:
153,861,514 bp from pter
End:
153,909,223 bp from pter
Size:
47,710 bases
Orientation:
Minus strand

Genomic View for L1CAM Gene

Genes around L1CAM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
L1CAM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for L1CAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for L1CAM Gene

Proteins for L1CAM Gene

  • Protein details for L1CAM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32004-L1CAM_HUMAN
    Recommended name:
    Neural cell adhesion molecule L1
    Protein Accession:
    P32004
    Secondary Accessions:
    • A0AV65
    • A4ZYW4
    • B2RMU7
    • G3XAF4
    • Q8TA87

    Protein attributes for L1CAM Gene

    Size:
    1257 amino acids
    Molecular mass:
    140003 Da
    Quaternary structure:
    • Interacts with SHTN1; the interaction occurs in axonal growth cones.

    Alternative splice isoforms for L1CAM Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for L1CAM Gene

Proteomics data for L1CAM Gene at MOPED

Post-translational modifications for L1CAM Gene

  • Glycosylation at Asn 100, Asn 203, Asn 247, Asn 294, Asn 433, Asn 479, Asn 490, Asn 505, Asn 588, Asn 671, Asn 726, Asn 777, Asn 825, Asn 849, Asn 876, Asn 979, Asn 1022, Asn 1030, Asn 1071, and Asn 1105
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for L1CAM Gene

Domains & Families for L1CAM Gene

Graphical View of Domain Structure for InterPro Entry

P32004

UniProtKB/Swiss-Prot:

L1CAM_HUMAN :
  • Contains 5 fibronectin type-III domains.
  • Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
Domain:
  • Contains 5 fibronectin type-III domains.
  • Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
genes like me logo Genes that share domains with L1CAM: view

Function for L1CAM Gene

Molecular function for L1CAM Gene

GENATLAS Biochemistry:
cell adhesion molecule L1,expressed in the nervous system,Ig superfamily
UniProtKB/Swiss-Prot Function:
Cell adhesion molecule with an important role in the development of the nervous system. Involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. Binds to axonin on neurons.
genes like me logo Genes that share phenotypes with L1CAM: view

Human Phenotype Ontology for L1CAM Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for L1CAM Gene

MGI Knock Outs for L1CAM:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for L1CAM Gene

Localization for L1CAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for L1CAM Gene

Cell membrane; Single-pass type I membrane protein. Cell projection, growth cone. Note=Colocalized with SHTN1 in close apposition with actin filaments in filopodia and lamellipodia of axonalne growth cones of hippocampal neurons. {ECO:0000250 UniProtKB:Q05695}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for L1CAM Gene COMPARTMENTS Subcellular localization image for L1CAM gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
extracellular 2
nucleus 2
peroxisome 2
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for L1CAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with L1CAM: view

Pathways & Interactions for L1CAM Gene

genes like me logo Genes that share pathways with L1CAM: view

Pathways by source for L1CAM Gene

Interacting Proteins for L1CAM Gene

Selected Interacting proteins: P32004-L1CAM_HUMAN for L1CAM Gene via MINT I2D

Gene Ontology (GO) - Biological Process for L1CAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA,NAS --
GO:0007399 nervous system development TAS 1769655
GO:0007596 blood coagulation TAS --
GO:0045773 positive regulation of axon extension ISS --
genes like me logo Genes that share ontologies with L1CAM: view

No data available for SIGNOR curated interactions for L1CAM Gene

Drugs & Compounds for L1CAM Gene

(2) Drugs for L1CAM Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for L1CAM Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with L1CAM: view

Transcripts for L1CAM Gene

Unigene Clusters for L1CAM Gene

L1 cell adhesion molecule:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for L1CAM Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^
SP1: - -
SP2: -
SP3: -
SP4:
SP5:
SP6: - - - -
SP7:
SP8:
SP9:
SP10:

ExUns: 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26a · 26b ^ 27a · 27b ^ 28 ^ 29a · 29b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8: - -
SP9:
SP10:

Relevant External Links for L1CAM Gene

GeneLoc Exon Structure for
L1CAM
ECgene alternative splicing isoforms for
L1CAM

Expression for L1CAM Gene

mRNA expression in normal human tissues for L1CAM Gene

mRNA differential expression in normal tissues according to GTEx for L1CAM Gene

This gene is overexpressed in Brain - Cerebellum (x7.4) and Brain - Cerebellar Hemisphere (x6.9).

Protein differential expression in normal tissues from HIPED for L1CAM Gene

This gene is overexpressed in Fetal Brain (22.8), Amniocyte (18.3), and Frontal cortex (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for L1CAM Gene



SOURCE GeneReport for Unigene cluster for L1CAM Gene Hs.522818

genes like me logo Genes that share expression patterns with L1CAM: view

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for L1CAM Gene

Orthologs for L1CAM Gene

This gene was present in the common ancestor of animals.

Orthologs for L1CAM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia L1CAM 35
  • 99.76 (n)
  • 99.76 (a)
L1CAM 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia L1CAM 36
  • 89 (a)
OneToOne
L1CAM 35
  • 87.46 (n)
  • 89.5 (a)
dog
(Canis familiaris)
Mammalia L1CAM 35
  • 89.41 (n)
  • 92.04 (a)
L1CAM 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia L1cam 36
  • 88 (a)
OneToOne
L1cam 16
L1cam 35
  • 85.8 (n)
  • 88.61 (a)
oppossum
(Monodelphis domestica)
Mammalia L1CAM 36
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia L1cam 35
  • 85.33 (n)
  • 88.58 (a)
chicken
(Gallus gallus)
Aves L1CAM 35
  • 58.39 (n)
  • 49.75 (a)
lizard
(Anolis carolinensis)
Reptilia L1CAM 36
  • 49 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.34215 35
tropical clawed frog
(Silurana tropicalis)
Amphibia l1cam 35
  • 56.14 (n)
  • 48.85 (a)
zebrafish
(Danio rerio)
Actinopterygii nadl1.1 36
  • 37 (a)
OneToMany
nadl1.2 36
  • 40 (a)
OneToMany
nadl1.1 35
nadl1.2 35
  • 52.73 (n)
  • 42.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nrg 37
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea lad-1 37
  • 28 (a)
Y54G2A.25 37
  • 26 (a)
Species with no ortholog for L1CAM:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for L1CAM Gene

ENSEMBL:
Gene Tree for L1CAM (if available)
TreeFam:
Gene Tree for L1CAM (if available)

Paralogs for L1CAM Gene

genes like me logo Genes that share paralogs with L1CAM: view

Variants for L1CAM Gene

Sequence variations from dbSNP and Humsavar for L1CAM Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_003921 Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
VAR_003922 Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
VAR_003923 Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)
VAR_003923 Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)
VAR_003923 Spastic paraplegia 1, X-linked (SPG1)

Structural Variations from Database of Genomic Variants (DGV) for L1CAM Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
nsv469867 CNV Complex 16826518
nsv7159 CNV Loss 18451855

Variation tolerance for L1CAM Gene

Residual Variation Intolerance Score: 1.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.09; 38.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for L1CAM Gene

HapMap Linkage Disequilibrium report
L1CAM
Human Gene Mutation Database (HGMD)
L1CAM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for L1CAM Gene

Disorders for L1CAM Gene

MalaCards: The human disease database

(33) MalaCards diseases for L1CAM Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
masa syndrome
  • crash syndrome
hydrocephalus due to aqueductal stenosis
  • hydrocephalus with hirschsprung disease
corpus callosum, partial agenesis of
  • partial agenesis of corpus callosum
hydrocephalus with stenosis of the aqueduct of sylvius
  • hsas
x-linked complicated corpus callosum dysgenesis
  • partial agenesis of corpus callosum
- elite association - COSMIC cancer census association via MalaCards
Search L1CAM in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

L1CAM_HUMAN
  • Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS) [MIM:307000]: Hydrocephalus is a condition in which abnormal accumulation of cerebrospinal fluid in the brain causes increased intracranial pressure inside the skull. This is usually due to blockage of cerebrospinal fluid outflow in the brain ventricles or in the subarachnoid space at the base of the brain. In children is typically characterized by enlargement of the head, prominence of the forehead, brain atrophy, mental deterioration, and convulsions. In adults the syndrome includes incontinence, imbalance, and dementia. HSAS is characterized by mental retardation and enlarged brain ventricles. {ECO:0000269 PubMed:10797421, ECO:0000269 PubMed:12435569, 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}. Note=The disease is caused by mutations 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}.
  • Mental retardation, aphasia, shuffling gait, and adducted thumbs 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, mental retardation, 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:10805190, ECO:0000269 PubMed:11857550, ECO:0000269 PubMed:16816908, ECO:0000269 PubMed:7920659, ECO:0000269 PubMed:7920660, ECO:0000269 PubMed:9268105, ECO:0000269 PubMed:9300653, ECO:0000269 PubMed:9452110, ECO:0000269 PubMed:9832035}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spastic paraplegia 1, X-linked (SPG1) [MIM:303350]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. {ECO:0000269 PubMed:7562969, ECO:0000269 PubMed:7920659}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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}.
  • 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, mental retardation, 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 mutations affecting the gene represented in this entry.

Relevant External Links for L1CAM

Genetic Association Database (GAD)
L1CAM
Human Genome Epidemiology (HuGE) Navigator
L1CAM
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
L1CAM
genes like me logo Genes that share disorders with L1CAM: view

No data available for Genatlas for L1CAM Gene

Publications for L1CAM Gene

  1. Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. (PMID: 9744477) Saugier-Veber P. … Frebourg T. (Hum. Mutat. 1998) 3 4 23 67
  2. The clinical variability of the MECP2 duplication syndrome: description of two families with duplications excluding L1CAM and FLNA. (PMID: 19018795) Kirk E.P. … Badens C. (Clin. Genet. 2009) 3 23
  3. Up-regulation of L1CAM in pancreatic duct cells is transforming growth factor beta1- and slug-dependent: role in malignant transformation of pancreatic cancer. (PMID: 19435915) Geismann C. … MA1erkAPster S.S. (Cancer Res. 2009) 3 23
  4. L1CAM mutation in association with X-linked hydrocephalus and Hirschsprung's disease. (PMID: 19641926) Jackson S.R. … Shin C.E. (Pediatr. Surg. Int. 2009) 3 23
  5. Targeting cancer stem cells through L1CAM suppresses glioma growth. (PMID: 18676824) Bao S. … Rich J.N. (Cancer Res. 2008) 3 23

Products for L1CAM Gene

Sources for L1CAM Gene

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