Details for: L1CAM

Gene ID: 3897

Symbol: L1CAM

Ensembl ID: ENSG00000198910

Description: L1 cell adhesion molecule

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 2.0785
    Cell Significance Index: 35.6200
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 1.3584
    Cell Significance Index: 14.1500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9424
    Cell Significance Index: 189.0400
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.9107
    Cell Significance Index: 19.9400
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.8615
    Cell Significance Index: 10.6900
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.8459
    Cell Significance Index: 6.5200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.7341
    Cell Significance Index: 45.1200
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: 0.7018
    Cell Significance Index: 16.8300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.5876
    Cell Significance Index: 30.8500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 0.5666
    Cell Significance Index: -1.2400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5002
    Cell Significance Index: 179.4200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4160
    Cell Significance Index: 26.2200
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.4104
    Cell Significance Index: 2.9700
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.3877
    Cell Significance Index: 3.2000
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.3312
    Cell Significance Index: 9.4500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2424
    Cell Significance Index: 167.6800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1655
    Cell Significance Index: 7.3200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1311
    Cell Significance Index: 4.9700
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.0297
    Cell Significance Index: 0.3700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0289
    Cell Significance Index: 1.9400
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.0251
    Cell Significance Index: 0.2000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0111
    Cell Significance Index: 6.0400
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: 0.0029
    Cell Significance Index: 0.0400
  • Cell Name: cerebral cortex neuron (CL0010012)
    Fold Change: -0.0042
    Cell Significance Index: -0.0400
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0075
    Cell Significance Index: -14.1000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0100
    Cell Significance Index: -15.4000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0113
    Cell Significance Index: -15.3300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0160
    Cell Significance Index: -7.1000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0165
    Cell Significance Index: -12.2300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0166
    Cell Significance Index: -12.2000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0193
    Cell Significance Index: -12.2800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0224
    Cell Significance Index: -12.6300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0233
    Cell Significance Index: -14.5600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0254
    Cell Significance Index: -11.5100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0284
    Cell Significance Index: -0.7300
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.0322
    Cell Significance Index: -0.4300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0476
    Cell Significance Index: -2.6700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0484
    Cell Significance Index: -13.9300
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0517
    Cell Significance Index: -0.7400
  • Cell Name: basal cell of epidermis (CL0002187)
    Fold Change: -0.0520
    Cell Significance Index: -0.7900
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0537
    Cell Significance Index: -1.1400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0540
    Cell Significance Index: -1.5100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0571
    Cell Significance Index: -11.3400
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0581
    Cell Significance Index: -0.6600
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0603
    Cell Significance Index: -1.2100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0605
    Cell Significance Index: -10.9000
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0607
    Cell Significance Index: -1.2000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0650
    Cell Significance Index: -2.0700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0682
    Cell Significance Index: -14.3600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0745
    Cell Significance Index: -8.6800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0779
    Cell Significance Index: -2.5500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0794
    Cell Significance Index: -11.5400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0815
    Cell Significance Index: -13.9200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0836
    Cell Significance Index: -10.2800
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: -0.0840
    Cell Significance Index: -1.0600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0954
    Cell Significance Index: -12.3200
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0960
    Cell Significance Index: -2.0800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0977
    Cell Significance Index: -13.4200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1036
    Cell Significance Index: -11.8700
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.1061
    Cell Significance Index: -0.6900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1076
    Cell Significance Index: -7.6100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1254
    Cell Significance Index: -14.7900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1262
    Cell Significance Index: -12.8900
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1267
    Cell Significance Index: -1.3800
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1294
    Cell Significance Index: -1.5100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1373
    Cell Significance Index: -14.3000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1598
    Cell Significance Index: -4.3500
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.1604
    Cell Significance Index: -1.5200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1654
    Cell Significance Index: -12.3300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.1731
    Cell Significance Index: -13.2800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.2016
    Cell Significance Index: -5.0300
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2087
    Cell Significance Index: -7.3100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.2156
    Cell Significance Index: -11.2300
  • Cell Name: professional antigen presenting cell (CL0000145)
    Fold Change: -0.2190
    Cell Significance Index: -1.9800
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.2236
    Cell Significance Index: -1.5200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2252
    Cell Significance Index: -14.5300
  • Cell Name: helper T cell (CL0000912)
    Fold Change: -0.2336
    Cell Significance Index: -3.3200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2416
    Cell Significance Index: -2.8800
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.2439
    Cell Significance Index: -5.0900
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.2591
    Cell Significance Index: -3.2700
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.2644
    Cell Significance Index: -4.0900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2783
    Cell Significance Index: -13.0800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2851
    Cell Significance Index: -13.3000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.2872
    Cell Significance Index: -12.4900
  • Cell Name: hippocampal interneuron (CL1001569)
    Fold Change: -0.2892
    Cell Significance Index: -3.7500
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.3160
    Cell Significance Index: -6.2200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3244
    Cell Significance Index: -11.9100
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.3626
    Cell Significance Index: -12.7400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3653
    Cell Significance Index: -10.7600
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.3686
    Cell Significance Index: -1.9300
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.3714
    Cell Significance Index: -6.1200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3741
    Cell Significance Index: -13.0000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.3879
    Cell Significance Index: -8.1200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.3959
    Cell Significance Index: -10.5700
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.3969
    Cell Significance Index: -5.2900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.4034
    Cell Significance Index: -10.0600
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.4110
    Cell Significance Index: -4.1400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4284
    Cell Significance Index: -12.2800
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.4298
    Cell Significance Index: -8.5700
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: -0.4309
    Cell Significance Index: -4.5600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Transmembrane Glycoprotein:** L1CAM is a transmembrane protein composed of an extracellular domain, a transmembrane region, and an intracellular domain. 2. **Homophilic Cell Adhesion:** L1CAM exhibits homophilic cell adhesion properties, meaning it can bind to other L1CAM molecules on adjacent cells. 3. **Axonal Guidance:** L1CAM is involved in axonal guidance, particularly in the formation of the growth cone, a structure that enables neurons to navigate and migrate during development. 4. **Synaptic Development:** L1CAM plays a role in the organization and maturation of synapses, the specialized structures that facilitate neuronal communication. 5. **Cell-Matrix Adhesion:** L1CAM interacts with the extracellular matrix, influencing cell adhesion, migration, and proliferation. **Pathways and Functions:** 1. **Axonal Guidance Receptor Activity:** L1CAM interacts with other receptors, such as N-CAM, to regulate axonal growth and migration. 2. **Signal Transduction by L1:** L1CAM can activate various signaling pathways, including MAPK and PI3K, which regulate cell growth, differentiation, and survival. 3. **Cell-Matrix Adhesion:** L1CAM interacts with collagens and laminins to modulate cell adhesion, migration, and proliferation. 4. **Recycling Pathway of L1:** L1CAM is subject to endocytosis and recycling, allowing it to regulate its availability and activity. 5. **Homophilic Cell Adhesion via Plasma Membrane Adhesion Molecules:** L1CAM interacts with other adhesion molecules, such as N-CAM, to facilitate homophilic cell adhesion. **Significantly Expressed Cells:** 1. **Primary Sensory Neuron (sensu Teleostei)** 2. **Kidney Collecting Duct Principal Cell** 3. **Enteric Neuron** 4. **Inhibitory Motor Neuron** 5. **Kidney Connecting Tubule Epithelial Cell** 6. **GABAergic Interneuron** 7. **Motor Neuron** 8. **L6b Glutamatergic Cortical Neuron** 9. **Hematopoietic Stem Cell** 10. **Goblet Cell** **Clinical Significance:** 1. **Neurological Disorders:** L1CAM has been implicated in various neurological disorders, including Alzheimer's disease, Parkinson's disease, and spinal muscular atrophy. 2. **Cancer:** L1CAM expression has been observed in certain types of cancer, including breast cancer, lung cancer, and glioblastoma. 3. **Neuropathic Pain:** L1CAM has been linked to neuropathic pain, a condition characterized by chronic pain in the nervous system. 4. **Hematological Disorders:** L1CAM has been implicated in hematological disorders, including leukemia and lymphoma. In conclusion, the L1CAM gene is a multifunctional adhesion molecule that plays a crucial role in the development, migration, and function of neurons, as well as other cell types. Understanding the mechanisms of L1CAM signaling and its clinical significance will be essential for the development of novel therapeutic strategies for various diseases.

Genular Protein ID: 2635493205

Symbol: L1CAM_HUMAN

Name: Neural cell adhesion molecule L1

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1932117

Title: Molecular cloning of cell adhesion molecule L1 from human nervous tissue: a comparison of the primary sequences of L1 molecules of different origin.

PubMed ID: 1932117

DOI: 10.1016/0167-4781(91)90108-x

PubMed ID: 1769655

Title: Molecular structure and functional testing of human L1CAM: an interspecies comparison.

PubMed ID: 1769655

DOI: 10.1016/0888-7543(91)90150-d

PubMed ID: 1627459

Title: Variants of human L1 cell adhesion molecule arise through alternate splicing of RNA.

PubMed ID: 1627459

DOI: 10.1007/bf02919404

PubMed ID: 9286695

Title: Genomic organization of two novel genes on human Xq28: compact head to head arrangement of IDH gamma and TRAP delta is conserved in rat and mouse.

PubMed ID: 9286695

DOI: 10.1006/geno.1997.4822

PubMed ID: 9479034

Title: The neural cell adhesion molecule L1: genomic organisation and differential splicing is conserved between man and the pufferfish Fugu.

PubMed ID: 9479034

DOI: 10.1016/s0378-1119(97)00614-8

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3136168

Title: A human brain glycoprotein related to the mouse cell adhesion molecule L1.

PubMed ID: 3136168

DOI: 10.1016/s0021-9258(18)37877-3

PubMed ID: 2387585

Title: The gene encoding L1, a neural adhesion molecule of the immunoglobulin family, is located on the X chromosome in mouse and man.

PubMed ID: 2387585

DOI: 10.1016/0888-7543(90)90203-7

PubMed ID: 1923824

Title: PCR walking from microdissection clone M54 identifies three exons from the human gene for the neural cell adhesion molecule L1 (CAM-L1).

PubMed ID: 1923824

DOI: 10.1093/nar/19.19.5395

PubMed ID: 1993895

Title: Isolation and sequence of partial cDNA clones of human L1: homology of human and rodent L1 in the cytoplasmic region.

PubMed ID: 1993895

DOI: 10.1111/j.1471-4159.1991.tb01994.x

PubMed ID: 8592152

Title: Casein kinase II phosphorylates the neural cell adhesion molecule L1.

PubMed ID: 8592152

DOI: 10.1046/j.1471-4159.1996.66020779.x

PubMed ID: 16335952

Title: Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.

PubMed ID: 16335952

DOI: 10.1021/pr0502065

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19159218

Title: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

PubMed ID: 19159218

DOI: 10.1021/pr8008012

PubMed ID: 19846429

Title: Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis.

PubMed ID: 19846429

DOI: 10.1136/jmg.2009.071688

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22222883

Title: Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.

PubMed ID: 22222883

DOI: 10.1007/s10048-011-0307-4

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 8401576

Title: A missense mutation confirms the L1 defect in X-linked hydrocephalus (HSAS).

PubMed ID: 8401576

DOI: 10.1038/ng0893-331

PubMed ID: 7881431

Title: X-linked hydrocephalus and MASA syndrome present in one family are due to a single missense mutation in exon 28 of the L1CAM gene.

PubMed ID: 7881431

DOI: 10.1093/hmg/3.12.2255

PubMed ID: 7920659

Title: X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene.

PubMed ID: 7920659

DOI: 10.1038/ng0794-402

PubMed ID: 7920660

Title: MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

PubMed ID: 7920660

DOI: 10.1038/ng0794-408

PubMed ID: 7762552

Title: New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

PubMed ID: 7762552

PubMed ID: 8556302

Title: CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

PubMed ID: 8556302

DOI: 10.1159/000472311

PubMed ID: 7562969

Title: Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

PubMed ID: 7562969

DOI: 10.1136/jmg.32.7.549

PubMed ID: 9118141

Title: A new mutation of the L1CAM gene in an X-linked hydrocephalus family.

PubMed ID: 9118141

DOI: 10.1007/bf00261591

PubMed ID: 8929944

Title: Five novel mutations in the L1CAM gene in families with X linked hydrocephalus.

PubMed ID: 8929944

DOI: 10.1136/jmg.33.2.103

PubMed ID: 9268105

Title: Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non-allelic heterogeneity of the trait.

PubMed ID: 9268105

DOI: 10.1002/(sici)1096-8628(19970822)71:3<336::aid-ajmg15>3.0.co;2-l

PubMed ID: 9300653

Title: L1-associated diseases: clinical geneticists divide, molecular geneticists unite.

PubMed ID: 9300653

DOI: 10.1093/hmg/6.10.1625

PubMed ID: 9195224

Title: Nine novel L1 CAM mutations in families with X-linked hydrocephalus.

PubMed ID: 9195224

DOI: 10.1002/(sici)1098-1004(1997)9:6<512::aid-humu3>3.0.co;2-3

PubMed ID: 9521424

Title: Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene.

PubMed ID: 9521424

DOI: 10.1002/(sici)1098-1004(1998)11:3<222::aid-humu7>3.0.co;2-j

PubMed ID: 9452110

Title: Evidence for somatic and germline mosaicism in CRASH syndrome.

PubMed ID: 9452110

DOI: 10.1002/humu.1380110189

PubMed ID: 9744477

Title: Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis.

PubMed ID: 9744477

DOI: 10.1002/(sici)1098-1004(1998)12:4<259::aid-humu7>3.0.co;2-a

PubMed ID: 9832035

Title: The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus.

PubMed ID: 9832035

DOI: 10.1136/jmg.35.11.901

PubMed ID: 10797421

Title: Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease.

PubMed ID: 10797421

DOI: 10.1002/(sici)1096-8628(20000501)92:1<40::aid-ajmg7>3.0.co;2-r

PubMed ID: 10805190

Title: Novel missense mutation in the L1 gene in a child with corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus.

PubMed ID: 10805190

DOI: 10.1177/088307380001500407

PubMed ID: 11857550

Title: Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease?

PubMed ID: 11857550

DOI: 10.1002/ajmg.10185

PubMed ID: 12435569

Title: X-linked hydrocephalus: a novel missense mutation in the L1CAM gene.

PubMed ID: 12435569

DOI: 10.1016/s0887-8994(02)00440-x

PubMed ID: 12514225

Title: The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo.

PubMed ID: 12514225

DOI: 10.1523/jneurosci.23-01-00277.2003

PubMed ID: 16650080

Title: Expanding the phenotypic spectrum of L1CAM-associated disease.

PubMed ID: 16650080

DOI: 10.1111/j.1399-0004.2006.00607.x

PubMed ID: 16816908

Title: A novel missense mutation in the L1CAM gene in a boy with L1 disease.

PubMed ID: 16816908

DOI: 10.1007/s10072-006-0610-2

PubMed ID: 20621658

Title: L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms.

PubMed ID: 20621658

DOI: 10.1016/j.nbd.2010.05.029

PubMed ID: 22344793

Title: Association of X-linked hydrocephalus and Hirschsprung disease: Report of a new patient with a mutation in the L1CAM gene.

PubMed ID: 22344793

DOI: 10.1002/ajmg.a.35244

PubMed ID: 22973895

Title: L1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cells.

PubMed ID: 22973895

DOI: 10.1111/jnc.12015

PubMed ID: 24155914

Title: Differential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogaster.

PubMed ID: 24155914

DOI: 10.1371/journal.pone.0076974

PubMed ID: 26891472

Title: L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.

PubMed ID: 26891472

DOI: 10.1111/cge.12763

Sequence Information:

  • Length: 1257
  • Mass: 140003
  • Checksum: 5EDD764DA86C0E63
  • Sequence:
  • MVVALRYVWP LLLCSPCLLI QIPEEYEGHH VMEPPVITEQ SPRRLVVFPT DDISLKCEAS 
    GKPEVQFRWT RDGVHFKPKE ELGVTVYQSP HSGSFTITGN NSNFAQRFQG IYRCFASNKL 
    GTAMSHEIRL MAEGAPKWPK ETVKPVEVEE GESVVLPCNP PPSAEPLRIY WMNSKILHIK 
    QDERVTMGQN GNLYFANVLT SDNHSDYICH AHFPGTRTII QKEPIDLRVK ATNSMIDRKP 
    RLLFPTNSSS HLVALQGQPL VLECIAEGFP TPTIKWLRPS GPMPADRVTY QNHNKTLQLL 
    KVGEEDDGEY RCLAENSLGS ARHAYYVTVE AAPYWLHKPQ SHLYGPGETA RLDCQVQGRP 
    QPEVTWRING IPVEELAKDQ KYRIQRGALI LSNVQPSDTM VTQCEARNRH GLLLANAYIY 
    VVQLPAKILT ADNQTYMAVQ GSTAYLLCKA FGAPVPSVQW LDEDGTTVLQ DERFFPYANG 
    TLGIRDLQAN DTGRYFCLAA NDQNNVTIMA NLKVKDATQI TQGPRSTIEK KGSRVTFTCQ 
    ASFDPSLQPS ITWRGDGRDL QELGDSDKYF IEDGRLVIHS LDYSDQGNYS CVASTELDVV 
    ESRAQLLVVG SPGPVPRLVL SDLHLLTQSQ VRVSWSPAED HNAPIEKYDI EFEDKEMAPE 
    KWYSLGKVPG NQTSTTLKLS PYVHYTFRVT AINKYGPGEP SPVSETVVTP EAAPEKNPVD 
    VKGEGNETTN MVITWKPLRW MDWNAPQVQY RVQWRPQGTR GPWQEQIVSD PFLVVSNTST 
    FVPYEIKVQA VNSQGKGPEP QVTIGYSGED YPQAIPELEG IEILNSSAVL VKWRPVDLAQ 
    VKGHLRGYNV TYWREGSQRK HSKRHIHKDH VVVPANTTSV ILSGLRPYSS YHLEVQAFNG 
    RGSGPASEFT FSTPEGVPGH PEALHLECQS NTSLLLRWQP PLSHNGVLTG YVLSYHPLDE 
    GGKGQLSFNL RDPELRTHNL TDLSPHLRYR FQLQATTKEG PGEAIVREGG TMALSGISDF 
    GNISATAGEN YSVVSWVPKE GQCNFRFHIL FKALGEEKGG ASLSPQYVSY NQSSYTQWDL 
    QPDTDYEIHL FKERMFRHQM AVKTNGTGRV RLPPAGFATE GWFIGFVSAI ILLLLVLLIL 
    CFIKRSKGGK YSVKDKEDTQ VDSEARPMKD ETFGEYRSLE SDNEEKAFGS SQPSLNGDIK 
    PLGSDDSLAD YGGSVDVQFN EDGSFIGQYS GKKEKEAAGG NDSSGATSPI NPAVALE

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.