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Gene: L1CAM (L1 cell adhesion molecule) Homo sapiens
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Symbol: L1CAM
Name: L1 cell adhesion molecule
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: antigen identified by monoclonal antibody R1; CAML1; CD171; HSAS; HSAS1; MASA; MIC5; N-CAM-L1; N-CAML1; NCAM-L1; neural cell adhesion molecule L1; S10; SPG1
Orthologs:
Mus musculus (house mouse) : L1cam (L1 cell adhesion molecule)  MGI  Alliance
Rattus norvegicus (Norway rat) : L1cam (L1 cell adhesion molecule)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : L1cam (L1 cell adhesion molecule)
Pan paniscus (bonobo/pygmy chimpanzee) : L1CAM (L1 cell adhesion molecule)
Canis lupus familiaris (dog) : L1CAM (L1 cell adhesion molecule)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : L1cam (L1 cell adhesion molecule)
Sus scrofa (pig) : L1CAM (L1 cell adhesion molecule)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X153,861,514 - 153,886,174 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X153,126,969 - 153,151,628 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X152,780,581 - 152,794,505 (-)NCBINCBI36hg18NCBI36
Build 34X152,648,233 - 152,662,158NCBI
CeleraX153,360,655 - 153,375,083 (-)NCBI
Cytogenetic MapXq28NCBI
HuRefX141,783,485 - 141,798,078 (-)NCBIHuRef
CHM1_1X153,001,369 - 153,026,043 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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Sequence

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