Details for: L1CAM

Gene ID: 3897

Symbol: L1CAM

Ensembl ID: ENSG00000198910

Description: L1 cell adhesion molecule

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 2.13
    Marker Score: 715
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 1.99
    Marker Score: 5031
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 1.7
    Marker Score: 905
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 1.48
    Marker Score: 701
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 1.27
    Marker Score: 1794
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 1.25
    Marker Score: 482
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 1.25
    Marker Score: 741.5
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 1.18
    Marker Score: 10102.5
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.17
    Marker Score: 616.5
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7687
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 1.15
    Marker Score: 10933
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.13
    Marker Score: 1408
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 1.11
    Marker Score: 1706
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 1.08
    Marker Score: 10133.5
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.07
    Marker Score: 448
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 1.06
    Marker Score: 8155
  • Cell Name: CNS interneuron (CL0000402)
    Fold Change: 1.05
    Marker Score: 506
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.05
    Marker Score: 64657
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 1.01
    Marker Score: 3906
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 1
    Marker Score: 38111
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71830
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48055
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: 0.99
    Marker Score: 4097
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.98
    Marker Score: 1854
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.97
    Marker Score: 2472
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.94
    Marker Score: 395
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5348
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2742
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.9
    Marker Score: 965
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.9
    Marker Score: 1820
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5289
  • Cell Name: brainstem motor neuron (CL2000047)
    Fold Change: 0.86
    Marker Score: 497
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.86
    Marker Score: 1739
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: 0.85
    Marker Score: 12749
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.85
    Marker Score: 233
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.84
    Marker Score: 30917
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.83
    Marker Score: 16510
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.82
    Marker Score: 630
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.81
    Marker Score: 764
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.8
    Marker Score: 385
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1269
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 711
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.78
    Marker Score: 489
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.77
    Marker Score: 3563
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 398
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.71
    Marker Score: 784
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 180
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.7
    Marker Score: 393
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.66
    Marker Score: 434
  • Cell Name: glycinergic amacrine cell (CL4030028)
    Fold Change: 0.64
    Marker Score: 602.5
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.62
    Marker Score: 215
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.62
    Marker Score: 748
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.6
    Marker Score: 482
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.59
    Marker Score: 353
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.58
    Marker Score: 569
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.56
    Marker Score: 149
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.55
    Marker Score: 176
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.55
    Marker Score: 420
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.54
    Marker Score: 241
  • Cell Name: kidney collecting duct cell (CL1001225)
    Fold Change: 0.53
    Marker Score: 103
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.5
    Marker Score: 2030.5
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.43
    Marker Score: 419
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.43
    Marker Score: 539
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.42
    Marker Score: 6509
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.4
    Marker Score: 408
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.38
    Marker Score: 214
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.37
    Marker Score: 608.5
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.36
    Marker Score: 113
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.33
    Marker Score: 335
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.33
    Marker Score: 11110
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.31
    Marker Score: 333
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: 0.31
    Marker Score: 77
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.29
    Marker Score: 181
  • Cell Name: granule cell (CL0000120)
    Fold Change: 0.29
    Marker Score: 2174
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.29
    Marker Score: 81
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.27
    Marker Score: 86
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.27
    Marker Score: 170
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.26
    Marker Score: 277
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.26
    Marker Score: 276
  • Cell Name: T-helper 17 cell (CL0000899)
    Fold Change: 0.24
    Marker Score: 156
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.24
    Marker Score: 227
  • Cell Name: retinal pigment epithelial cell (CL0002586)
    Fold Change: 0.23
    Marker Score: 69
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.23
    Marker Score: 110
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.22
    Marker Score: 58
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 0.21
    Marker Score: 617
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.21
    Marker Score: 43
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.21
    Marker Score: 878
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.2
    Marker Score: 93
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.2
    Marker Score: 87
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.19
    Marker Score: 44
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.18
    Marker Score: 70
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.18
    Marker Score: 71
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: 0.17
    Marker Score: 101
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.16
    Marker Score: 382
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.16
    Marker Score: 96.5
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.16
    Marker Score: 71
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 0.16
    Marker Score: 4034
  • Cell Name: CD1c-positive myeloid dendritic cell (CL0002399)
    Fold Change: 0.16
    Marker Score: 408
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.15
    Marker Score: 148

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Other Information

**Key characteristics:** * L1CAM is a large glycoprotein with a molecular weight of approximately 120 kDa. * It is a transmembrane protein with four extracellular domains: L1, L2, L3, and L4. * The L1 domain is responsible for binding to extracellular matrix proteins. * The L2 domain is involved in cell adhesion. * The L3 domain is involved in cell migration and adhesion. * The L4 domain is involved in signal transduction. **Pathways and functions:** * L1CAM is a key molecule in axon guidance, where it is expressed in neurons and guides axons to their correct destinations. * It also plays a role in cell adhesion, migration, and signaling in various tissues. * In the nervous system, L1CAM is expressed on neurons and astrocytes, where it is involved in axon guidance, dendritic spine development, and synapse formation. * In epithelial cells, L1CAM is expressed on cell surface markers such as E-cadherin and N-cadherin. It plays a role in cell adhesion to extracellular matrix proteins and cell migration. * L1CAM is also expressed on immune cells, where it mediates cell adhesion, migration, and immune cell activation. **Clinical significance:** * Mutations in L1CAM have been linked to several human diseases, including autism, schizophrenia, and developmental disorders. * L1CAM inhibitors are being investigated as potential therapeutic agents for these disorders. **Conclusion:** L1CAM is a versatile and essential protein that plays a critical role in various cellular processes, including cell adhesion, migration, and signaling. Its clinical significance makes it an important target for understanding and treating human diseases.

Genular Protein ID: 2635493205

Symbol: L1CAM_HUMAN

Name: Neural cell adhesion molecule L1

UniProtKB Accession Codes:

P32004 A0AV65 A4ZYW4 B2RMU7 G3XAF4 Q8TA87

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 4 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 1 ELM 1 EMBL 14 EPD 1 Ensembl 4 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 9 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 4 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRO 1 PROSITE 2 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 4 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 5 RefSeq 4 SAM 1 SASBDB 1 SIGNOR 1 SMART 3 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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. For the full schema, download it here.