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Aliases for L1CAM Gene

Aliases for L1CAM Gene

  • L1 Cell Adhesion Molecule 2 3
  • CAML1 3 4 6
  • Antigen Identified By Monoclonal Antibody R1 2 3
  • N-CAM-L1 3 4
  • NCAM-L1 3 4
  • HSAS1 3 6
  • MASA 3 6
  • MIC5 3 4
  • SPG1 3 6
  • Neural Cell Adhesion Molecule L1 3
  • CD171 Antigen 4
  • N-CAML1 3
  • CD171 3
  • HSAS 3
  • S10 3

External Ids for L1CAM Gene

Previous Symbols for L1CAM Gene

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

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 spastic paraplegia 1. Among its related pathways are L1CAM interactions and Hemostasis. GO annotations related to this gene include identical protein binding and protein self-association. An important paralog of this gene is PRTG.

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

Genomic Location for L1CAM Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for L1CAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for L1CAM Gene

Regulatory Elements 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:
    No Data Available

    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

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn100, Asn203, Asn247, Asn294, Asn433, Asn479, Asn490, Asn505, Asn588, Asn671, Asn726, Asn777, Asn825, Asn849, Asn876, Asn979, Asn1022, Asn1030, Asn1071, and Asn1105

No data available for DME Specific Peptides for L1CAM Gene

Domains for L1CAM Gene

Gene Families for L1CAM Gene

HGNC:
  • CD :CD molecules
  • ISET :Immunoglobulin superfamily / I-set domain containing
  • FN3 :Fibronectin type III domain containing

UniProtKB/Swiss-Prot:

L1CAM_HUMAN
Domain:
  • Contains 5 fibronectin type-III domains.:
    • P32004
  • Contains 6 Ig-like C2-type (immunoglobulin-like) domains.:
    • P32004
Family:
  • Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.:
    • P32004
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

Gene Ontology (GO) - Molecular Function for L1CAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding IEA --
GO:0005515 protein binding --
GO:0033691 sialic acid binding IEA --
GO:0042802 identical protein binding IEA --
GO:0043621 protein self-association IEA --
genes like me logo Genes that share ontologies with L1CAM: view
genes like me logo Genes that share phenotypes with L1CAM: view

Animal Models for L1CAM Gene

MGI Knock Outs for L1CAM:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for L1CAM Gene COMPARTMENTS Subcellular localization image for L1CAM gene
Compartment Confidence
plasma membrane 5
nucleus 3
cytoskeleton 2
extracellular 2
peroxisome 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for L1CAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion IDA 21423176
GO:0009897 external side of plasma membrane IEA --
GO:0009986 cell surface IDA 19581412
GO:0016020 membrane --
genes like me logo Genes that share ontologies with L1CAM: view

Pathways for L1CAM Gene

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

Pathways by source for L1CAM Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway 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:0006935 chemotaxis TAS 19909241
GO:0007155 cell adhesion NAS 7920659
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007157 heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules IEA --
GO:0007159 leukocyte cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with L1CAM: view

Compounds for L1CAM Gene

(3) Novoseek inferred chemical compound relationships for L1CAM Gene

Compound -log(P) Hits PubMed IDs
guanine 21.6 2
tyrosine 0 1
glutamate 0 1
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:

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 (7.4) and Brain - Cerebellar Hemisphere (6.9).

Integrated Proteomics: protein expression 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 expressions with L1CAM: view

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 36
  • 99.76 (n)
  • 99.76 (a)
L1CAM 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia L1CAM 36
  • 87.46 (n)
  • 89.5 (a)
L1CAM 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia L1CAM 36
  • 89.41 (n)
  • 92.04 (a)
L1CAM 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia L1cam 36
  • 85.8 (n)
  • 88.61 (a)
L1cam 16
L1cam 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia L1CAM 37
  • 64 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia L1cam 36
  • 85.33 (n)
  • 88.58 (a)
chicken
(Gallus gallus)
Aves L1CAM 36
  • 58.39 (n)
  • 49.75 (a)
lizard
(Anolis carolinensis)
Reptilia L1CAM 37
  • 49 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.34215 36
tropical clawed frog
(Silurana tropicalis)
Amphibia l1cam 36
  • 56.14 (n)
  • 48.85 (a)
zebrafish
(Danio rerio)
Actinopterygii nadl1.1 36
nadl1.1 37
  • 37 (a)
OneToMany
nadl1.2 36
  • 52.73 (n)
  • 42.95 (a)
nadl1.2 37
  • 40 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nrg 38
  • 28 (a)
worm
(Caenorhabditis elegans)
Secernentea lad-1 38
  • 28 (a)
Y54G2A.25 38
  • 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 MAF
rs916169 -- 153,868,134(-) ACACG(C/G)CTCCT intron-variant
rs933211 -- 153,862,312(-) CATGG(G/T)GGGGT utr-variant-3-prime
rs1042512 Likely benign 153,870,192(-) CCAGC(C/T)GACCG reference, synonymous-codon
rs1042513 -- 153,862,656(-) GGAGT(A/C)CAGGA utr-variant-3-prime
rs1042514 -- 153,862,171(-) GATGG(C/G)AGCCG utr-variant-3-prime

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

Relevant External Links for L1CAM Gene

HapMap Linkage Disequilibrium report
L1CAM
Human Gene Mutation Database (HGMD)
L1CAM
Locus Specific Mutation Databases (LSDB)
L1CAM

Disorders for L1CAM Gene

(3) OMIM Diseases for L1CAM Gene (308840)

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. 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.

(19) Novoseek inferred disease relationships for L1CAM Gene

Disease -log(P) Hits PubMed IDs
masa syndrome 96.8 15
spastic paraplegia 92.2 12
congenital hydrocephalus 86 5
hydrocephalus 85.2 62
mental retardation 75.2 14

Relevant External Links for L1CAM

GeneTests
L1CAM
GeneReviews
L1CAM
Genetic Association Database (GAD)
L1CAM
Human Genome Epidemiology (HuGE) Navigator
L1CAM
genes like me logo Genes that share disorders with L1CAM: view

Publications for L1CAM Gene

  1. X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene. (PMID: 7881431) Fransen E. … Willems P.J. (Hum. Mol. Genet. 1994) 3 4 23
  2. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. (PMID: 7920659) Jouet M. … Kenwrick S. (Nat. Genet. 1994) 3 4 23
  3. MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. (PMID: 7920660) Vits L. … Willems P.J. (Nat. Genet. 1994) 3 4 23
  4. Molecular structure and functional testing of human L1CAM: an interspecies comparison. (PMID: 1769655) Hlavin M.L. … Lemmon V. (Genomics 1991) 3 4 23
  5. Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. (PMID: 7562969) Ruiz J.C. … Cassiman J.-J. (J. Med. Genet. 1995) 3 4 23

Products for L1CAM Gene

  • Addgene plasmids for L1CAM

Sources for L1CAM Gene

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