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MGP001788

UniProt Annotations

Entry Information

Gene Name	L1 cell adhesion molecule
Protein Entry	L1CAM_HUMAN
UniProt ID	P32004
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=P32004-1; Sequence=Displayed; Name=2; IsoId=P32004-2; Sequence=VSP_002591; Note=Contains a phosphoserine at position 1177.; Name=3; IsoId=P32004-3; Sequence=VSP_046317, VSP_002591; Note=Contains a phosphoserine at position 1172.;
Disease	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.
Disease	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}.
Disease	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.
Disease	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}.
Disease	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.
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.
Similarity	Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family. {ECO:0000305}.
Similarity	Contains 5 fibronectin type-III domains. {ECO:0000255\|PROSITE-ProRule:PRU00316}.
Similarity	Contains 6 Ig-like C2-type (immunoglobulin-like) domains. {ECO:0000305}.
Subcellular Location	Cell membrane; Single-pass type I membrane protein.
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";