UniProtKB - P32004 (L1CAM_HUMAN)
Neural cell adhesion molecule L1
L1CAM
Functioni
Neural cell adhesion molecule involved in the dynamics of cell adhesion and in the generation of transmembrane signals at tyrosine kinase receptors. During brain development, critical in multiple processes, including neuronal migration, axonal growth and fasciculation, and synaptogenesis. In the mature brain, plays a role in the dynamics of neuronal structure and function, including synaptic plasticity.
Curated1 PublicationGO - Molecular functioni
- axon guidance receptor activity Source: GO_Central
- protein domain specific binding Source: CAFA
GO - Biological processi
- axon development Source: UniProtKB
- axon guidance Source: UniProtKB
- cell adhesion Source: ProtInc
- cell-matrix adhesion Source: UniProtKB
- cell migration Source: UniProtKB
- chemotaxis Source: BHF-UCL
- homophilic cell adhesion via plasma membrane adhesion molecules Source: GO_Central
- nervous system development Source: ProtInc
- neuron projection development Source: UniProtKB
- positive regulation of axon extension Source: UniProtKB
- synapse organization Source: UniProtKB
Keywordsi
Molecular function | Developmental protein |
Biological process | Cell adhesion, Differentiation, Neurogenesis |
Enzyme and pathway databases
PathwayCommonsi | P32004 |
Reactomei | R-HSA-210991, Basigin interactions R-HSA-373760, L1CAM interactions R-HSA-437239, Recycling pathway of L1 R-HSA-445095, Interaction between L1 and Ankyrins R-HSA-445144, Signal transduction by L1 |
SignaLinki | P32004 |
SIGNORi | P32004 |
Names & Taxonomyi
Protein namesi | Recommended name: Neural cell adhesion molecule L1Short name: N-CAM-L1 Short name: NCAM-L1 Alternative name(s): CD_antigen: CD171 |
Gene namesi | Name:L1CAM Synonyms:CAML1, MIC5 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:6470, L1CAM |
MIMi | 308840, gene |
neXtProti | NX_P32004 |
VEuPathDBi | HostDB:ENSG00000198910 |
Subcellular locationi
Plasma membrane
- Cell membrane 4 Publications; Single-pass type I membrane protein By similarity
Other locations
- growth cone By similarity
- axon 1 Publication
- dendrite
Note: Colocalized with SHTN1 in close apposition with actin filaments in filopodia and lamellipodia of axonalne growth cones of hippocampal neurons (By similarity). In neurons, detected predominantly in axons and cell body, weak localization to dendrites (PubMed:20621658).By similarity1 Publication
Plasma Membrane
- plasma membrane Source: UniProtKB
Other locations
- axon Source: UniProtKB
- axonal growth cone Source: UniProtKB
- cell surface Source: UniProtKB
- collagen-containing extracellular matrix Source: BHF-UCL
- dendrite Source: UniProtKB-SubCell
- focal adhesion Source: UniProtKB
- integral component of membrane Source: UniProtKB-KW
- neuronal cell body Source: UniProtKB
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 20 – 1120 | ExtracellularSequence analysisAdd BLAST | 1101 | |
Transmembranei | 1121 – 1143 | HelicalSequence analysisAdd BLAST | 23 | |
Topological domaini | 1144 – 1257 | CytoplasmicSequence analysisAdd BLAST | 114 |
Keywords - Cellular componenti
Cell membrane, Cell projection, MembranePathology & Biotechi
Involvement in diseasei
Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)22 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003921 | 9 | W → S in HSAS. 1 Publication | 1 | |
Natural variantiVAR_003922 | 121 | G → S in HSAS. 1 Publication | 1 | |
Natural variantiVAR_003923 | 179 | I → S in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852523EnsemblClinVar. | 1 | |
Natural variantiVAR_003924 | 184 | R → Q in HSAS; severe; reduced axon arborization; partial loss of localization at the cell surface; retention in the endoplasmic reticulum; in neurons, restricted to cell bodies and proximal segments of processes; loss of axon guidance and of proper synapse formation, when assayed in a heterologous system. 6 PublicationsCorresponds to variant dbSNP:rs137852521EnsemblClinVar. | 1 | |
Natural variantiVAR_030404 | 184 | R → W in HSAS. 1 Publication | 1 | |
Natural variantiVAR_003925 | 194 | Y → C in HSAS. 1 Publication | 1 | |
Natural variantiVAR_003927 | 219 | I → T in HSAS; decrease in cell-matrix adhesion; decreased cell migration; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells; no effect on neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells. 2 Publications | 1 | |
Natural variantiVAR_003928 | 240 | P → L in HSAS and ACCPX. 2 PublicationsCorresponds to variant dbSNP:rs137852526EnsemblClinVar. | 1 | |
Natural variantiVAR_003929 | 264 | C → Y in HSAS; severe; loss of localization to the cell surface; retention in the endoplasmic reticulum; loss of axon guidance, when assayed in a heterologous system. 5 PublicationsCorresponds to variant dbSNP:rs137852518EnsemblClinVar. | 1 | |
Natural variantiVAR_030407 | 335 | W → C in HSAS. 1 Publication | 1 | |
Natural variantiVAR_003931 | 335 | W → R in HSAS and MASA; also in a patient with hydrocephalus and Hirschsprung disease. 2 Publications | 1 | |
Natural variantiVAR_003932 | 370 | G → R in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852524EnsemblClinVar. | 1 | |
Natural variantiVAR_003933 | 386 | R → C in HSAS. 1 PublicationCorresponds to variant dbSNP:rs1557092299Ensembl. | 1 | |
Natural variantiVAR_030408 | 408 | N → I in HSAS. 1 Publication | 1 | |
Natural variantiVAR_027512 | 415 | A → P in HSAS. 2 Publications | 1 | |
Natural variantiVAR_030409 | 421 | V → D in HSAS. 1 Publication | 1 | |
Natural variantiVAR_003934 | 439 – 443 | Missing in HSAS. 1 Publication | 5 | |
Natural variantiVAR_003935 | 452 | G → R in HSAS; severe. 2 PublicationsCorresponds to variant dbSNP:rs137852520EnsemblClinVar. | 1 | |
Natural variantiVAR_003936 | 473 | R → C in HSAS and MASA. 1 PublicationCorresponds to variant dbSNP:rs886039408EnsemblClinVar. | 1 | |
Natural variantiVAR_030412 | 497 | C → Y in HSAS. 1 Publication | 1 | |
Natural variantiVAR_030413 | 526 | Missing in HSAS. 1 Publication | 1 | |
Natural variantiVAR_030414 | 542 | S → P in HSAS. 1 Publication | 1 | |
Natural variantiVAR_030415 | 655 | K → E in HSAS. 1 PublicationCorresponds to variant dbSNP:rs1375788131Ensembl. | 1 | |
Natural variantiVAR_030416 | 691 | A → T in HSAS. 1 Publication | 1 | |
Natural variantiVAR_003940 | 698 | G → R in HSAS and MASA; associated with callosal agenesis; also found in a patient affected by hydrocephalus with Hirschsprung disease. 2 PublicationsCorresponds to variant dbSNP:rs886039409EnsemblClinVar. | 1 | |
Natural variantiVAR_030418 | 741 | M → T in HSAS. 1 PublicationCorresponds to variant dbSNP:rs1557091083Ensembl. | 1 | |
Natural variantiVAR_030419 | 751 | R → P in HSAS. 1 Publication | 1 | |
Natural variantiVAR_014421 | 752 | V → M in HSAS and MASA; also found in a patient with the diagnosis of L1 syndrome; also in a patient with hydrocephalus and Hirschsprung disease. 3 PublicationsCorresponds to variant dbSNP:rs137852525EnsemblClinVar. | 1 | |
Natural variantiVAR_003941 | 768 | V → F in HSAS. 1 Publication | 1 | |
Natural variantiVAR_003942 | 784 | Y → C in HSAS. 1 PublicationCorresponds to variant dbSNP:rs797045674EnsemblClinVar. | 1 | |
Natural variantiVAR_003943 | 935 | L → P in HSAS. 1 Publication | 1 | |
Natural variantiVAR_003944 | 936 – 948 | Missing in HSAS. 1 PublicationAdd BLAST | 13 | |
Natural variantiVAR_003945 | 941 | P → L in HSAS and MASA; decrease in neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells; decrease in cell-matrix adhesion; decreased cell migration; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells. 2 Publications | 1 | |
Natural variantiVAR_078382 | 1036 | W → L in HSAS; partial loss of localization at the cell surface; retention in the endoplasmic reticulum; in neurons, partial loss of localization to axons, but enriched on proximal dendrites. 1 Publication | 1 | |
Natural variantiVAR_003946 | 1070 | Y → C in HSAS; partial loss of axon guidance and loss of proper synapse formation, when assayed in a heterologous system. 2 Publications | 1 | |
Natural variantiVAR_003947 | 1194 | S → L in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852522EnsemblClinVar. | 1 | |
Natural variantiVAR_003948 | 1224 | S → L in HSAS. 1 Publication | 1 |
Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)21 Publications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003923 | 179 | I → S in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852523EnsemblClinVar. | 1 | |
Natural variantiVAR_030405 | 202 | D → Y in MASA; loss of homophilic interactions at the cell surface; no effect on localization at the cell surface. 3 Publications | 1 | |
Natural variantiVAR_003926 | 210 | H → Q in MASA; decrease in cell-matrix adhesion; decreased cell migration; loss of axon guidance and of proper synapse formation, when assayed in a heterologous system; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells; no effect on neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells. 5 PublicationsCorresponds to variant dbSNP:rs28933683EnsemblClinVar. | 1 | |
Natural variantiVAR_030406 | 268 | G → D in MASA. 1 Publication | 1 | |
Natural variantiVAR_003930 | 309 | E → K in MASA; decrease in neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells; decrease in cell-matrix adhesion; decreased cell migration; no effect on axon guidance, on subcellular location to synaptic terminals, nor on proper synapse formation, when assayed in a heterologous system; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells. 3 PublicationsCorresponds to variant dbSNP:rs367665974EnsemblClinVar. | 1 | |
Natural variantiVAR_003931 | 335 | W → R in HSAS and MASA; also in a patient with hydrocephalus and Hirschsprung disease. 2 Publications | 1 | |
Natural variantiVAR_003932 | 370 | G → R in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852524EnsemblClinVar. | 1 | |
Natural variantiVAR_030410 | 426 | A → D in MASA. 1 Publication | 1 | |
Natural variantiVAR_003936 | 473 | R → C in HSAS and MASA. 1 PublicationCorresponds to variant dbSNP:rs886039408EnsemblClinVar. | 1 | |
Natural variantiVAR_030411 | 482 | L → P in MASA. 1 PublicationCorresponds to variant dbSNP:rs1064794246EnsemblClinVar. | 1 | |
Natural variantiVAR_003937 | 598 | D → N in MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852519EnsemblClinVar. | 1 | |
Natural variantiVAR_003938 | 632 | R → P in MASA. 1 Publication | 1 | |
Natural variantiVAR_027513 | 674 | S → C in MASA; associated with callosal agenesis. 1 Publication | 1 | |
Natural variantiVAR_003939 | 691 | A → D in MASA; associated with callosal agenesis. 2 Publications | 1 | |
Natural variantiVAR_003940 | 698 | G → R in HSAS and MASA; associated with callosal agenesis; also found in a patient affected by hydrocephalus with Hirschsprung disease. 2 PublicationsCorresponds to variant dbSNP:rs886039409EnsemblClinVar. | 1 | |
Natural variantiVAR_014421 | 752 | V → M in HSAS and MASA; also found in a patient with the diagnosis of L1 syndrome; also in a patient with hydrocephalus and Hirschsprung disease. 3 PublicationsCorresponds to variant dbSNP:rs137852525EnsemblClinVar. | 1 | |
Natural variantiVAR_027514 | 770 | D → N in MASA; associated with callosal agenesis. 1 PublicationCorresponds to variant dbSNP:rs148516831EnsemblClinVar. | 1 | |
Natural variantiVAR_003945 | 941 | P → L in HSAS and MASA; decrease in neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells; decrease in cell-matrix adhesion; decreased cell migration; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells. 2 Publications | 1 | |
Natural variantiVAR_003947 | 1194 | S → L in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852522EnsemblClinVar. | 1 |
Agenesis of the corpus callosum, X-linked, partial (ACCPX)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003928 | 240 | P → L in HSAS and ACCPX. 2 PublicationsCorresponds to variant dbSNP:rs137852526EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 1147 – 1153 | KGGKYSV → AGGAASA: Loss of axon guidance, when assayed in a heterologous system, but normal synapse formation. 1 Publication | 7 |
Keywords - Diseasei
Disease variant, Hereditary spastic paraplegia, Hirschsprung disease, Mental retardation, NeurodegenerationOrganism-specific databases
DisGeNETi | 3897 |
GeneReviewsi | L1CAM |
MalaCardsi | L1CAM |
MIMi | 303350, phenotype 304100, phenotype 307000, phenotype |
OpenTargetsi | ENSG00000198910 |
Orphaneti | 2182, Hydrocephalus with stenosis of the aqueduct of Sylvius 2466, MASA syndrome 1497, X-linked complicated corpus callosum dysgenesis 306617, X-linked complicated spastic paraplegia type 1 |
PharmGKBi | PA30259 |
Miscellaneous databases
Pharosi | P32004, Tbio |
Chemistry databases
DrugBanki | DB00898, Ethanol |
Genetic variation databases
BioMutai | L1CAM |
DMDMi | 1705571 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Signal peptidei | 1 – 19 | 1 PublicationAdd BLAST | 19 | |
ChainiPRO_0000015022 | 20 – 1257 | Neural cell adhesion molecule L1Add BLAST | 1238 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length | |
---|---|---|---|---|---|
Disulfide bondi | 57 ↔ 114 | PROSITE-ProRule annotation | |||
Glycosylationi | 100 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Disulfide bondi | 158 ↔ 209 | PROSITE-ProRule annotation | |||
Glycosylationi | 203 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Glycosylationi | 247 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Disulfide bondi | 264 ↔ 312 | PROSITE-ProRule annotation | |||
Glycosylationi | 294 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Disulfide bondi | 354 ↔ 404 | PROSITE-ProRule annotation | |||
Glycosylationi | 433 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Disulfide bondi | 448 ↔ 497 | PROSITE-ProRule annotation | |||
Glycosylationi | 479 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Glycosylationi | 490 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Glycosylationi | 505 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Disulfide bondi | 539 ↔ 591 | PROSITE-ProRule annotation | |||
Glycosylationi | 588 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Glycosylationi | 671 | N-linked (GlcNAc...) asparagine2 Publications | 1 | ||
Glycosylationi | 726 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Glycosylationi | 777 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Glycosylationi | 825 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Glycosylationi | 849 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Glycosylationi | 876 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Glycosylationi | 979 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Glycosylationi | 1022 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Glycosylationi | 1030 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Glycosylationi | 1071 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Glycosylationi | 1105 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | ||
Modified residuei | 1163 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 1178 | PhosphoserineBy similarity | 1 | ||
Modified residuei | 1181 | Phosphoserine; by CaMK21 Publication | 1 | ||
Modified residuei | 1194 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 1243 | PhosphoserineCombined sources | 1 | ||
Modified residuei | 1244 | PhosphoserineBy similarity | 1 | ||
Modified residuei | 1248 | PhosphoserineCombined sources | 1 | ||
Isoform 3 (identifier: P32004-3) | |||||
Modified residuei | 1172 | PhosphoserineCombined sources | 1 | ||
Isoform 2 (identifier: P32004-2) | |||||
Modified residuei | 1177 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Disulfide bond, Glycoprotein, PhosphoproteinProteomic databases
EPDi | P32004 |
jPOSTi | P32004 |
MassIVEi | P32004 |
MaxQBi | P32004 |
PaxDbi | P32004 |
PeptideAtlasi | P32004 |
PRIDEi | P32004 |
ProteomicsDBi | 33733 54830 [P32004-1] 54831 [P32004-2] |
PTM databases
GlyConnecti | 1547, 18 N-Linked glycans (4 sites) |
GlyGeni | P32004, 22 sites, 20 N-linked glycans (4 sites), 1 O-linked glycan (1 site) |
iPTMneti | P32004 |
PhosphoSitePlusi | P32004 |
SwissPalmi | P32004 |
Expressioni
Gene expression databases
Bgeei | ENSG00000198910, Expressed in right hemisphere of cerebellum and 207 other tissues |
ExpressionAtlasi | P32004, baseline and differential |
Genevisiblei | P32004, HS |
Organism-specific databases
HPAi | ENSG00000198910, Tissue enhanced (brain, intestine) |
Interactioni
Subunit structurei
Interacts with SHTN1; the interaction occurs in axonal growth cones (By similarity).
Interacts with isoform 2 of BSG (By similarity).
By similarityGO - Molecular functioni
- protein domain specific binding Source: CAFA
Protein-protein interaction databases
BioGRIDi | 110094, 52 interactors |
CORUMi | P32004 |
ELMi | P32004 |
IntActi | P32004, 11 interactors |
MINTi | P32004 |
STRINGi | 9606.ENSP00000359077 |
Miscellaneous databases
RNActi | P32004, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 35 – 125 | Ig-like C2-type 1Add BLAST | 91 | |
Domaini | 139 – 226 | Ig-like C2-type 2Add BLAST | 88 | |
Domaini | 240 – 328 | Ig-like C2-type 3Add BLAST | 89 | |
Domaini | 333 – 420 | Ig-like C2-type 4Add BLAST | 88 | |
Domaini | 425 – 507 | Ig-like C2-type 5Add BLAST | 83 | |
Domaini | 518 – 607 | Ig-like C2-type 6Add BLAST | 90 | |
Domaini | 615 – 712 | Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST | 98 | |
Domaini | 717 – 810 | Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST | 94 | |
Domaini | 814 – 916 | Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST | 103 | |
Domaini | 920 – 1015 | Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST | 96 | |
Domaini | 1016 – 1115 | Fibronectin type-III 5PROSITE-ProRule annotationAdd BLAST | 100 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 698 – 725 | DisorderedSequence analysisAdd BLAST | 28 | |
Regioni | 1176 – 1207 | DisorderedSequence analysisAdd BLAST | 32 | |
Regioni | 1226 – 1257 | DisorderedSequence analysisAdd BLAST | 32 |
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 554 – 556 | Cell attachment siteSequence analysis | 3 |
Sequence similaritiesi
Keywords - Domaini
Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG3513, Eukaryota |
GeneTreei | ENSGT00940000157506 |
HOGENOMi | CLU_005756_1_1_1 |
InParanoidi | P32004 |
OMAi | HNKTLHL |
OrthoDBi | 434404at2759 |
PhylomeDBi | P32004 |
TreeFami | TF351098 |
Family and domain databases
CDDi | cd00063, FN3, 4 hits |
DisProti | DP00666 |
Gene3Di | 2.60.40.10, 10 hits |
InterProi | View protein in InterPro IPR003961, FN3_dom IPR036116, FN3_sf IPR007110, Ig-like_dom IPR036179, Ig-like_dom_sf IPR013783, Ig-like_fold IPR013098, Ig_I-set IPR003599, Ig_sub IPR003598, Ig_sub2 IPR026966, Neurofascin/L1/NrCAM_C |
Pfami | View protein in Pfam PF13882, Bravo_FIGEY, 1 hit PF00041, fn3, 4 hits PF07679, I-set, 1 hit |
SMARTi | View protein in SMART SM00060, FN3, 4 hits SM00409, IG, 6 hits SM00408, IGc2, 5 hits |
SUPFAMi | SSF48726, SSF48726, 6 hits SSF49265, SSF49265, 2 hits |
PROSITEi | View protein in PROSITE PS50853, FN3, 5 hits PS50835, IG_LIKE, 6 hits |
s (3+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MVVALRYVWP LLLCSPCLLI QIPEEYEGHH VMEPPVITEQ SPRRLVVFPT
60 70 80 90 100
DDISLKCEAS GKPEVQFRWT RDGVHFKPKE ELGVTVYQSP HSGSFTITGN
110 120 130 140 150
NSNFAQRFQG IYRCFASNKL GTAMSHEIRL MAEGAPKWPK ETVKPVEVEE
160 170 180 190 200
GESVVLPCNP PPSAEPLRIY WMNSKILHIK QDERVTMGQN GNLYFANVLT
210 220 230 240 250
SDNHSDYICH AHFPGTRTII QKEPIDLRVK ATNSMIDRKP RLLFPTNSSS
260 270 280 290 300
HLVALQGQPL VLECIAEGFP TPTIKWLRPS GPMPADRVTY QNHNKTLQLL
310 320 330 340 350
KVGEEDDGEY RCLAENSLGS ARHAYYVTVE AAPYWLHKPQ SHLYGPGETA
360 370 380 390 400
RLDCQVQGRP QPEVTWRING IPVEELAKDQ KYRIQRGALI LSNVQPSDTM
410 420 430 440 450
VTQCEARNRH GLLLANAYIY VVQLPAKILT ADNQTYMAVQ GSTAYLLCKA
460 470 480 490 500
FGAPVPSVQW LDEDGTTVLQ DERFFPYANG TLGIRDLQAN DTGRYFCLAA
510 520 530 540 550
NDQNNVTIMA NLKVKDATQI TQGPRSTIEK KGSRVTFTCQ ASFDPSLQPS
560 570 580 590 600
ITWRGDGRDL QELGDSDKYF IEDGRLVIHS LDYSDQGNYS CVASTELDVV
610 620 630 640 650
ESRAQLLVVG SPGPVPRLVL SDLHLLTQSQ VRVSWSPAED HNAPIEKYDI
660 670 680 690 700
EFEDKEMAPE KWYSLGKVPG NQTSTTLKLS PYVHYTFRVT AINKYGPGEP
710 720 730 740 750
SPVSETVVTP EAAPEKNPVD VKGEGNETTN MVITWKPLRW MDWNAPQVQY
760 770 780 790 800
RVQWRPQGTR GPWQEQIVSD PFLVVSNTST FVPYEIKVQA VNSQGKGPEP
810 820 830 840 850
QVTIGYSGED YPQAIPELEG IEILNSSAVL VKWRPVDLAQ VKGHLRGYNV
860 870 880 890 900
TYWREGSQRK HSKRHIHKDH VVVPANTTSV ILSGLRPYSS YHLEVQAFNG
910 920 930 940 950
RGSGPASEFT FSTPEGVPGH PEALHLECQS NTSLLLRWQP PLSHNGVLTG
960 970 980 990 1000
YVLSYHPLDE GGKGQLSFNL RDPELRTHNL TDLSPHLRYR FQLQATTKEG
1010 1020 1030 1040 1050
PGEAIVREGG TMALSGISDF GNISATAGEN YSVVSWVPKE GQCNFRFHIL
1060 1070 1080 1090 1100
FKALGEEKGG ASLSPQYVSY NQSSYTQWDL QPDTDYEIHL FKERMFRHQM
1110 1120 1130 1140 1150
AVKTNGTGRV RLPPAGFATE GWFIGFVSAI ILLLLVLLIL CFIKRSKGGK
1160 1170 1180 1190 1200
YSVKDKEDTQ VDSEARPMKD ETFGEYRSLE SDNEEKAFGS SQPSLNGDIK
1210 1220 1230 1240 1250
PLGSDDSLAD YGGSVDVQFN EDGSFIGQYS GKKEKEAAGG NDSSGATSPI
NPAVALE
Computationally mapped potential isoform sequencesi
There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH3BLW5 | H3BLW5_HUMAN | Neural cell adhesion molecule L1 | L1CAM | 153 | Annotation score: | ||
E7EVM4 | E7EVM4_HUMAN | Neural cell adhesion molecule L1 | L1CAM | 128 | Annotation score: | ||
E7EPI4 | E7EPI4_HUMAN | Neural cell adhesion molecule L1 | L1CAM | 150 | Annotation score: | ||
E7EMY4 | E7EMY4_HUMAN | Neural cell adhesion molecule L1 | L1CAM | 90 | Annotation score: | ||
E9PHJ4 | E9PHJ4_HUMAN | Neural cell adhesion molecule L1 | L1CAM | 83 | Annotation score: | ||
H0Y5C3 | H0Y5C3_HUMAN | Neural cell adhesion molecule L1 | L1CAM | 190 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 4 | A → V in CAA42508 (PubMed:1932117).Curated | 1 | |
Sequence conflicti | 216 | T → I in CAA42508 (PubMed:1932117).Curated | 1 | |
Sequence conflicti | 250 | S → T in CAA42508 (PubMed:1932117).Curated | 1 | |
Sequence conflicti | 276 – 277 | WL → SV in CAA42508 (PubMed:1932117).Curated | 2 | |
Sequence conflicti | 288 | V → A in ABP88252 (Ref. 6) Curated | 1 | |
Sequence conflicti | 357 | Q → E in CAA42508 (PubMed:1932117).Curated | 1 | |
Sequence conflicti | 515 | K → T in ABP88252 (Ref. 6) Curated | 1 | |
Sequence conflicti | 626 | L → V in CAA42508 (PubMed:1932117).Curated | 1 | |
Sequence conflicti | 660 | E → G in ABP88252 (Ref. 6) Curated | 1 | |
Sequence conflicti | 936 | L → V in CAB37831 (PubMed:1923824).Curated | 1 | |
Sequence conflicti | 1116 – 1117 | GF → WLC no nucleotide entry (PubMed:1993895).Curated | 2 | |
Sequence conflicti | 1164 | E → V in ABP88252 (Ref. 6) Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_003921 | 9 | W → S in HSAS. 1 Publication | 1 | |
Natural variantiVAR_078350 | 26 – 1257 | Missing Probable disease-associated variant found in L1 syndrome. 1 PublicationAdd BLAST | 1232 | |
Natural variantiVAR_030403 | 30 | H → N1 Publication | 1 | |
Natural variantiVAR_078351 | 37 | I → N Probable disease-associated variant found in L1 syndrome; loss of localization at the cell surface; retention in the endoplasmic reticulum; loss of homophilic interactions at the cell surface. 2 Publications | 1 | |
Natural variantiVAR_078352 | 38 | T → M No effect on localization at the cell surface. 2 PublicationsCorresponds to variant dbSNP:rs201151358EnsemblClinVar. | 1 | |
Natural variantiVAR_078353 | 66 – 1257 | Missing Probable disease-associated variant found in L1 syndrome. 1 PublicationAdd BLAST | 1192 | |
Natural variantiVAR_078354 | 109 – 1257 | Missing Probable disease-associated variant found in L1 syndrome. 1 PublicationAdd BLAST | 1149 | |
Natural variantiVAR_078355 | 120 | L → V No effect on axon guidance activity, nor on synapse formation, when assayed in a heterologous system. 1 PublicationCorresponds to variant dbSNP:rs796052697Ensembl. | 1 | |
Natural variantiVAR_003922 | 121 | G → S in HSAS. 1 Publication | 1 | |
Natural variantiVAR_078356 | 133 – 1257 | Missing Probable disease-associated variant found in L1 syndrome. 1 PublicationAdd BLAST | 1125 | |
Natural variantiVAR_078357 | 138 – 1257 | Missing Probable disease-associated variant found in L1 syndrome. 1 PublicationAdd BLAST | 1120 | |
Natural variantiVAR_078358 | 172 | M → I Probable disease-associated variant found in a patient with L1 syndrome; loss of homophilic interactions at the cell surface; no effect on the localization at the cell surface. 2 Publications | 1 | |
Natural variantiVAR_003923 | 179 | I → S in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852523EnsemblClinVar. | 1 | |
Natural variantiVAR_078359 | 184 | R → G Probable disease-associated variant found in L1 syndrome. 1 Publication | 1 | |
Natural variantiVAR_003924 | 184 | R → Q in HSAS; severe; reduced axon arborization; partial loss of localization at the cell surface; retention in the endoplasmic reticulum; in neurons, restricted to cell bodies and proximal segments of processes; loss of axon guidance and of proper synapse formation, when assayed in a heterologous system. 6 PublicationsCorresponds to variant dbSNP:rs137852521EnsemblClinVar. | 1 | |
Natural variantiVAR_030404 | 184 | R → W in HSAS. 1 Publication | 1 | |
Natural variantiVAR_078360 | 187 – 198 | Missing Probable disease-associated variant found in L1 syndrome. 1 PublicationAdd BLAST | 12 | |
Natural variantiVAR_003925 | 194 | Y → C in HSAS. 1 Publication | 1 | |
Natural variantiVAR_030405 | 202 | D → Y in MASA; loss of homophilic interactions at the cell surface; no effect on localization at the cell surface. 3 Publications | 1 | |
Natural variantiVAR_003926 | 210 | H → Q in MASA; decrease in cell-matrix adhesion; decreased cell migration; loss of axon guidance and of proper synapse formation, when assayed in a heterologous system; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells; no effect on neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells. 5 PublicationsCorresponds to variant dbSNP:rs28933683EnsemblClinVar. | 1 | |
Natural variantiVAR_003927 | 219 | I → T in HSAS; decrease in cell-matrix adhesion; decreased cell migration; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells; no effect on neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells. 2 Publications | 1 | |
Natural variantiVAR_003928 | 240 | P → L in HSAS and ACCPX. 2 PublicationsCorresponds to variant dbSNP:rs137852526EnsemblClinVar. | 1 | |
Natural variantiVAR_078361 | 254 | A → D Probable disease-associated variant found in L1 syndrome. 1 Publication | 1 | |
Natural variantiVAR_003929 | 264 | C → Y in HSAS; severe; loss of localization to the cell surface; retention in the endoplasmic reticulum; loss of axon guidance, when assayed in a heterologous system. 5 PublicationsCorresponds to variant dbSNP:rs137852518EnsemblClinVar. | 1 | |
Natural variantiVAR_030406 | 268 | G → D in MASA. 1 Publication | 1 | |
Natural variantiVAR_078362 | 276 | W → R Probable disease-associated variant found in L1 syndrome. 1 PublicationCorresponds to variant dbSNP:rs1131691900EnsemblClinVar. | 1 | |
Natural variantiVAR_003930 | 309 | E → K in MASA; decrease in neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells; decrease in cell-matrix adhesion; decreased cell migration; no effect on axon guidance, on subcellular location to synaptic terminals, nor on proper synapse formation, when assayed in a heterologous system; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells. 3 PublicationsCorresponds to variant dbSNP:rs367665974EnsemblClinVar. | 1 | |
Natural variantiVAR_078363 | 313 | L → P Probable disease-associated variant found in L1 syndrome. 1 Publication | 1 | |
Natural variantiVAR_030407 | 335 | W → C in HSAS. 1 Publication | 1 | |
Natural variantiVAR_003931 | 335 | W → R in HSAS and MASA; also in a patient with hydrocephalus and Hirschsprung disease. 2 Publications | 1 | |
Natural variantiVAR_078364 | 366 – 1257 | Missing Probable disease-associated variant found in L1 syndrome. 1 PublicationAdd BLAST | 892 | |
Natural variantiVAR_078365 | 369 | N → K Probable disease-associated variant found in L1 syndrome. 1 Publication | 1 | |
Natural variantiVAR_003932 | 370 | G → R in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852524EnsemblClinVar. | 1 | |
Natural variantiVAR_003933 | 386 | R → C in HSAS. 1 PublicationCorresponds to variant dbSNP:rs1557092299Ensembl. | 1 | |
Natural variantiVAR_030408 | 408 | N → I in HSAS. 1 Publication | 1 | |
Natural variantiVAR_027512 | 415 | A → P in HSAS. 2 Publications | 1 | |
Natural variantiVAR_030409 | 421 | V → D in HSAS. 1 Publication | 1 | |
Natural variantiVAR_078366 | 423 – 1257 | Missing Probable disease-associated variant found in L1 syndrome. 1 PublicationAdd BLAST | 835 | |
Natural variantiVAR_030410 | 426 | A → D in MASA. 1 Publication | 1 | |
Natural variantiVAR_003934 | 439 – 443 | Missing in HSAS. 1 Publication | 5 | |
Natural variantiVAR_003935 | 452 | G → R in HSAS; severe. 2 PublicationsCorresponds to variant dbSNP:rs137852520EnsemblClinVar. | 1 | |
Natural variantiVAR_003936 | 473 | R → C in HSAS and MASA. 1 PublicationCorresponds to variant dbSNP:rs886039408EnsemblClinVar. | 1 | |
Natural variantiVAR_078367 | 480 | G → R Probable disease-associated variant found in L1 syndrome. 1 Publication | 1 | |
Natural variantiVAR_030411 | 482 | L → P in MASA. 1 PublicationCorresponds to variant dbSNP:rs1064794246EnsemblClinVar. | 1 | |
Natural variantiVAR_030412 | 497 | C → Y in HSAS. 1 Publication | 1 | |
Natural variantiVAR_078368 | 516 | D → N Found in a patient with L1 syndrome; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782367931EnsemblClinVar. | 1 | |
Natural variantiVAR_078369 | 516 | D → Y Found in a patient with L1 syndrome; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_078370 | 525 | R → H Found in a patient with L1 syndrome; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs782401498Ensembl. | 1 | |
Natural variantiVAR_030413 | 526 | Missing in HSAS. 1 Publication | 1 | |
Natural variantiVAR_030414 | 542 | S → P in HSAS. 1 Publication | 1 | |
Natural variantiVAR_003937 | 598 | D → N in MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852519EnsemblClinVar. | 1 | |
Natural variantiVAR_078371 | 627 | T → M1 PublicationCorresponds to variant dbSNP:rs398123360EnsemblClinVar. | 1 | |
Natural variantiVAR_003938 | 632 | R → P in MASA. 1 Publication | 1 | |
Natural variantiVAR_078372 | 635 | W → C Probable disease-associated variant found in L1 syndrome; loss of localization at the cell surface; retention in the endoplasmic reticulum; loss of transport into axons; loss of neurite outgrowth; loss of cell-cell adhesion. 1 Publication | 1 | |
Natural variantiVAR_078373 | 645 | I → P Probable disease-associated variant found in L1 syndrome; requires 2 nucleotide substitutions. 1 Publication | 1 | |
Natural variantiVAR_030415 | 655 | K → E in HSAS. 1 PublicationCorresponds to variant dbSNP:rs1375788131Ensembl. | 1 | |
Natural variantiVAR_078374 | 662 – 1257 | Missing Probable disease-associated variant found in L1 syndrome. 1 PublicationAdd BLAST | 596 | |
Natural variantiVAR_027513 | 674 | S → C in MASA; associated with callosal agenesis. 1 Publication | 1 | |
Natural variantiVAR_003939 | 691 | A → D in MASA; associated with callosal agenesis. 2 Publications | 1 | |
Natural variantiVAR_030416 | 691 | A → T in HSAS. 1 Publication | 1 | |
Natural variantiVAR_003940 | 698 | G → R in HSAS and MASA; associated with callosal agenesis; also found in a patient affected by hydrocephalus with Hirschsprung disease. 2 PublicationsCorresponds to variant dbSNP:rs886039409EnsemblClinVar. | 1 | |
Natural variantiVAR_078375 | 714 | P → S Probable disease-associated variant found in L1 syndrome. 1 Publication | 1 | |
Natural variantiVAR_030417 | 739 | R → W1 PublicationCorresponds to variant dbSNP:rs142424573Ensembl. | 1 | |
Natural variantiVAR_030418 | 741 | M → T in HSAS. 1 PublicationCorresponds to variant dbSNP:rs1557091083Ensembl. | 1 | |
Natural variantiVAR_030419 | 751 | R → P in HSAS. 1 Publication | 1 | |
Natural variantiVAR_014421 | 752 | V → M in HSAS and MASA; also found in a patient with the diagnosis of L1 syndrome; also in a patient with hydrocephalus and Hirschsprung disease. 3 PublicationsCorresponds to variant dbSNP:rs137852525EnsemblClinVar. | 1 | |
Natural variantiVAR_078376 | 754 | W → R Probable disease-associated variant found in L1 syndrome. 1 Publication | 1 | |
Natural variantiVAR_078377 | 760 – 1257 | Missing Probable disease-associated variant found in L1 syndrome. 1 PublicationAdd BLAST | 498 | |
Natural variantiVAR_003941 | 768 | V → F in HSAS. 1 Publication | 1 | |
Natural variantiVAR_030420 | 768 | V → I Decreased cell-cell adhesion; no effect on subcellular localization; no effect on neurite outgrowth. 2 PublicationsCorresponds to variant dbSNP:rs36021462EnsemblClinVar. | 1 | |
Natural variantiVAR_027514 | 770 | D → N in MASA; associated with callosal agenesis. 1 PublicationCorresponds to variant dbSNP:rs148516831EnsemblClinVar. | 1 | |
Natural variantiVAR_003942 | 784 | Y → C in HSAS. 1 PublicationCorresponds to variant dbSNP:rs797045674EnsemblClinVar. | 1 | |
Natural variantiVAR_078378 | 789 – 1257 | Missing Probable disease-associated variant found in L1 syndrome. 2 PublicationsAdd BLAST | 469 | |
Natural variantiVAR_078379 | 811 – 1257 | Missing Probable disease-associated variant found in L1 syndrome. 1 PublicationAdd BLAST | 447 | |
Natural variantiVAR_078380 | 891 – 1257 | Missing Probable disease-associated variant found in L1 syndrome. 1 PublicationAdd BLAST | 367 | |
Natural variantiVAR_078381 | 901 – 1257 | Missing Probable disease-associated variant found in L1 syndrome. 1 PublicationAdd BLAST | 357 | |
Natural variantiVAR_003943 | 935 | L → P in HSAS. 1 Publication | 1 | |
Natural variantiVAR_003944 | 936 – 948 | Missing in HSAS. 1 PublicationAdd BLAST | 13 | |
Natural variantiVAR_003945 | 941 | P → L in HSAS and MASA; decrease in neurite outgrowth, when assayed in NGF-treated pheochromocytoma PC12 cells; decrease in cell-matrix adhesion; decreased cell migration; no effect on the localization at the cell surface; no effect on cell proliferation, when transfected in pheochromocytoma PC12 cells. 2 Publications | 1 | |
Natural variantiVAR_059413 | 958 | L → V. Corresponds to variant dbSNP:rs35902890EnsemblClinVar. | 1 | |
Natural variantiVAR_078382 | 1036 | W → L in HSAS; partial loss of localization at the cell surface; retention in the endoplasmic reticulum; in neurons, partial loss of localization to axons, but enriched on proximal dendrites. 1 Publication | 1 | |
Natural variantiVAR_078383 | 1064 – 1257 | Missing Probable disease-associated variant found in L1 syndrome. 1 PublicationAdd BLAST | 194 | |
Natural variantiVAR_003946 | 1070 | Y → C in HSAS; partial loss of axon guidance and loss of proper synapse formation, when assayed in a heterologous system. 2 Publications | 1 | |
Natural variantiVAR_078384 | 1071 | Missing Probable disease-associated variant found in L1 syndrome. 1 Publication | 1 | |
Natural variantiVAR_078385 | 1080 | L → Q Probable disease-associated variant found in L1 syndrome. 1 Publication | 1 | |
Natural variantiVAR_003947 | 1194 | S → L in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852522EnsemblClinVar. | 1 | |
Natural variantiVAR_003948 | 1224 | S → L in HSAS. 1 Publication | 1 | |
Natural variantiVAR_030421 | 1239 | G → E1 Publication | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_046317 | 26 – 31 | YEGHHV → L in isoform 3. 1 Publication | 6 | |
Alternative sequenceiVSP_002591 | 1177 – 1180 | Missing in isoform 2 and isoform 3. 2 Publications | 4 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X59847 mRNA Translation: CAA42508.1 M77640 mRNA Translation: AAC14352.1 M74387 mRNA Translation: AAA59476.1 U52111 Genomic DNA No translation available. Z29373 Genomic DNA Translation: CAA82564.1 EF506611 mRNA Translation: ABP88252.1 U52112 Genomic DNA No translation available. CH471172 Genomic DNA Translation: EAW72787.1 BC025843 mRNA Translation: AAH25843.1 BC126229 mRNA Translation: AAI26230.1 BC136447 mRNA Translation: AAI36448.1 M55271 mRNA Translation: AAA36353.1 Sequence problems. X58775 Genomic DNA Translation: CAA41576.1 X58776 mRNA Translation: CAB37831.1 |
CCDSi | CCDS14733.1 [P32004-1] CCDS14734.1 [P32004-2] CCDS48192.1 [P32004-3] |
PIRi | A41060 |
RefSeqi | NP_000416.1, NM_000425.4 [P32004-1] NP_001137435.1, NM_001143963.2 [P32004-3] NP_001265045.1, NM_001278116.1 [P32004-1] NP_076493.1, NM_024003.3 [P32004-2] |
Genome annotation databases
Ensembli | ENST00000361699; ENSP00000355380; ENSG00000198910 [P32004-2] ENST00000361981; ENSP00000354712; ENSG00000198910 [P32004-3] ENST00000370055; ENSP00000359072; ENSG00000198910 [P32004-3] ENST00000370060; ENSP00000359077; ENSG00000198910 |
GeneIDi | 3897 |
KEGGi | hsa:3897 |
MANE-Selecti | ENST00000370060.7; ENSP00000359077.1; NM_001278116.2; NP_001265045.1 |
UCSCi | uc004fjc.5, human [P32004-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
Atlas of Genetics and Cytogenetics in Oncology and Haematology |
L1CAM L1CAM mutation Web Page |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | X59847 mRNA Translation: CAA42508.1 M77640 mRNA Translation: AAC14352.1 M74387 mRNA Translation: AAA59476.1 U52111 Genomic DNA No translation available. Z29373 Genomic DNA Translation: CAA82564.1 EF506611 mRNA Translation: ABP88252.1 U52112 Genomic DNA No translation available. CH471172 Genomic DNA Translation: EAW72787.1 BC025843 mRNA Translation: AAH25843.1 BC126229 mRNA Translation: AAI26230.1 BC136447 mRNA Translation: AAI36448.1 M55271 mRNA Translation: AAA36353.1 Sequence problems. X58775 Genomic DNA Translation: CAA41576.1 X58776 mRNA Translation: CAB37831.1 |
CCDSi | CCDS14733.1 [P32004-1] CCDS14734.1 [P32004-2] CCDS48192.1 [P32004-3] |
PIRi | A41060 |
RefSeqi | NP_000416.1, NM_000425.4 [P32004-1] NP_001137435.1, NM_001143963.2 [P32004-3] NP_001265045.1, NM_001278116.1 [P32004-1] NP_076493.1, NM_024003.3 [P32004-2] |
3D structure databases
SMRi | P32004 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110094, 52 interactors |
CORUMi | P32004 |
ELMi | P32004 |
IntActi | P32004, 11 interactors |
MINTi | P32004 |
STRINGi | 9606.ENSP00000359077 |
Chemistry databases
DrugBanki | DB00898, Ethanol |
PTM databases
GlyConnecti | 1547, 18 N-Linked glycans (4 sites) |
GlyGeni | P32004, 22 sites, 20 N-linked glycans (4 sites), 1 O-linked glycan (1 site) |
iPTMneti | P32004 |
PhosphoSitePlusi | P32004 |
SwissPalmi | P32004 |
Genetic variation databases
BioMutai | L1CAM |
DMDMi | 1705571 |
Proteomic databases
EPDi | P32004 |
jPOSTi | P32004 |
MassIVEi | P32004 |
MaxQBi | P32004 |
PaxDbi | P32004 |
PeptideAtlasi | P32004 |
PRIDEi | P32004 |
ProteomicsDBi | 33733 54830 [P32004-1] 54831 [P32004-2] |
Protocols and materials databases
ABCDi | P32004, 16 sequenced antibodies |
Antibodypediai | 449, 1176 antibodies from 45 providers |
DNASUi | 3897 |
Genome annotation databases
Ensembli | ENST00000361699; ENSP00000355380; ENSG00000198910 [P32004-2] ENST00000361981; ENSP00000354712; ENSG00000198910 [P32004-3] ENST00000370055; ENSP00000359072; ENSG00000198910 [P32004-3] ENST00000370060; ENSP00000359077; ENSG00000198910 |
GeneIDi | 3897 |
KEGGi | hsa:3897 |
MANE-Selecti | ENST00000370060.7; ENSP00000359077.1; NM_001278116.2; NP_001265045.1 |
UCSCi | uc004fjc.5, human [P32004-1] |
Organism-specific databases
CTDi | 3897 |
DisGeNETi | 3897 |
GeneCardsi | L1CAM |
GeneReviewsi | L1CAM |
HGNCi | HGNC:6470, L1CAM |
HPAi | ENSG00000198910, Tissue enhanced (brain, intestine) |
MalaCardsi | L1CAM |
MIMi | 303350, phenotype 304100, phenotype 307000, phenotype 308840, gene |
neXtProti | NX_P32004 |
OpenTargetsi | ENSG00000198910 |
Orphaneti | 2182, Hydrocephalus with stenosis of the aqueduct of Sylvius 2466, MASA syndrome 1497, X-linked complicated corpus callosum dysgenesis 306617, X-linked complicated spastic paraplegia type 1 |
PharmGKBi | PA30259 |
VEuPathDBi | HostDB:ENSG00000198910 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3513, Eukaryota |
GeneTreei | ENSGT00940000157506 |
HOGENOMi | CLU_005756_1_1_1 |
InParanoidi | P32004 |
OMAi | HNKTLHL |
OrthoDBi | 434404at2759 |
PhylomeDBi | P32004 |
TreeFami | TF351098 |
Enzyme and pathway databases
PathwayCommonsi | P32004 |
Reactomei | R-HSA-210991, Basigin interactions R-HSA-373760, L1CAM interactions R-HSA-437239, Recycling pathway of L1 R-HSA-445095, Interaction between L1 and Ankyrins R-HSA-445144, Signal transduction by L1 |
SignaLinki | P32004 |
SIGNORi | P32004 |
Miscellaneous databases
BioGRID-ORCSi | 3897, 3 hits in 664 CRISPR screens |
ChiTaRSi | L1CAM, human |
GeneWikii | L1_(protein) |
GenomeRNAii | 3897 |
Pharosi | P32004, Tbio |
PROi | PR:P32004 |
RNActi | P32004, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000198910, Expressed in right hemisphere of cerebellum and 207 other tissues |
ExpressionAtlasi | P32004, baseline and differential |
Genevisiblei | P32004, HS |
Family and domain databases
CDDi | cd00063, FN3, 4 hits |
DisProti | DP00666 |