Human Gene L1CAM (ENST00000370060.7) from GENCODE V44
Description: Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 4, mRNA. (from RefSeq NM_001278116) RefSeq Summary (NM_001278116): 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]. Gencode Transcript: ENST00000370060.7 Gencode Gene: ENSG00000198910.14 Transcript (Including UTRs) Position: hg38 chrX:153,861,516-153,886,173 Size: 24,658 Total Exon Count: 29 Strand: - Coding Region Position: hg38 chrX:153,862,663-153,875,836 Size: 13,174 Coding Exon Count: 28
ID:L1CAM_HUMAN DESCRIPTION: RecName: Full=Neural cell adhesion molecule L1; Short=N-CAM-L1; Short=NCAM-L1; AltName: CD_antigen=CD171; Flags: Precursor; 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. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. DISEASE: Defects in L1CAM are the cause of 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. Note=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). DISEASE: Defects in L1CAM are the cause of mental retardation- aphasia-shuffling gait-adducted thumbs syndrome (MASA) [MIM:303350]; also known as corpus callosum hypoplasia, psychomotor retardation, adducted thumbs, spastic paraparesis, and hydrocephalus or CRASH syndrome. MASA is 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. DISEASE: Defects in L1CAM are the cause of spastic paraplegia X- linked type 1 (SPG1) [MIM:303350]. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. DISEASE: Note=Defects in L1CAM may contribute to Hirschsprung disease by modifying the effects of Hirschsprung disease- associated genes to cause intestinal aganglionosis. DISEASE: Defects in L1CAM are a cause of partial agenesis of the corpus callosum (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. SIMILARITY: Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family. SIMILARITY: Contains 5 fibronectin type-III domains. SIMILARITY: Contains 6 Ig-like C2-type (immunoglobulin-like) domains. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/L1CAMID44110chXq28.html"; WEB RESOURCE: Name=L1CAM; Note=L1CAM mutation Web Page; URL="http://www.rug.nl/umcg/faculteit/disciplinegroepen/medischegenetica/hereditarydiseases/L1cam/index"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/L1CAM";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF13882 - Bravo-like intracellular region PF00041 - Fibronectin type III domain PF07679 - Immunoglobulin I-set domain
ModBase Predicted Comparative 3D Structure on P32004
Front
Top
Side
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.