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Protein

Neural cell adhesion molecule L1

Gene

L1CAM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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 Publication

GO - Molecular functioni

  • 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
  • leukocyte migration Source: Reactome
  • nervous system development Source: ProtInc
  • neuron projection development Source: UniProtKB
  • positive regulation of axon extension Source: UniProtKB
  • synapse organization Source: UniProtKB

Keywordsi

Molecular functionDevelopmental protein
Biological processCell adhesion, Differentiation, Neurogenesis

Enzyme and pathway databases

ReactomeiR-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.
SIGNORiP32004.

Names & Taxonomyi

Protein namesi
Recommended name:
Neural cell adhesion molecule L1
Short name:
N-CAM-L1
Short name:
NCAM-L1
Alternative name(s):
CD_antigen: CD171
Gene namesi
Name:L1CAM
Synonyms:CAML1, MIC5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

HGNCiHGNC:6470. L1CAM.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini20 – 1120ExtracellularSequence analysisAdd BLAST1101
Transmembranei1121 – 1143HelicalSequence analysisAdd BLAST23
Topological domaini1144 – 1257CytoplasmicSequence analysisAdd BLAST114

GO - Cellular componenti

  • axon Source: UniProtKB
  • axonal growth cone Source: UniProtKB
  • cell surface Source: UniProtKB
  • focal adhesion Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • neuronal cell body Source: UniProtKB
  • plasma membrane Source: UniProtKB

Keywords - Cellular componenti

Cell membrane, Cell projection, Membrane

Pathology & Biotechi

Involvement in diseasei

Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)22 Publications
The disease is caused by mutations affecting the gene represented in this entry. L1CAM mutations have also been found in few patients affected by hydrocephalus with Hirschsprung disease, suggesting a role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung disease (PubMed:22344793).1 Publication
Disease descriptionHydrocephalus is a condition in which abnormal accumulation of cerebrospinal fluid in the brain causes increased intracranial pressure inside the skull. This is usually due to blockage of cerebrospinal fluid outflow in the brain ventricles or in the subarachnoid space at the base of the brain. In children is typically characterized by enlargement of the head, prominence of the forehead, brain atrophy, mental deterioration, and convulsions. In adults the syndrome includes incontinence, imbalance, and dementia. HSAS is characterized by mental retardation and enlarged brain ventricles.
See also OMIM:307000
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0039219W → S in HSAS. 1 Publication1
Natural variantiVAR_003922121G → S in HSAS. 1 Publication1
Natural variantiVAR_003923179I → S in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852523Ensembl.1
Natural variantiVAR_003924184R → 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:rs137852521Ensembl.1
Natural variantiVAR_030404184R → W in HSAS. 1 Publication1
Natural variantiVAR_003925194Y → C in HSAS. 1 Publication1
Natural variantiVAR_003927219I → 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 Publications1
Natural variantiVAR_003928240P → L in HSAS and ACCPX. 2 PublicationsCorresponds to variant dbSNP:rs137852526Ensembl.1
Natural variantiVAR_003929264C → 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:rs137852518Ensembl.1
Natural variantiVAR_030407335W → C in HSAS. 1 Publication1
Natural variantiVAR_003931335W → R in HSAS and MASA; also in a patient with hydrocephalus and Hirschsprung disease. 2 Publications1
Natural variantiVAR_003932370G → R in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852524Ensembl.1
Natural variantiVAR_003933386R → C in HSAS. 1 Publication1
Natural variantiVAR_030408408N → I in HSAS. 1 Publication1
Natural variantiVAR_027512415A → P in HSAS. 2 Publications1
Natural variantiVAR_030409421V → D in HSAS. 1 Publication1
Natural variantiVAR_003934439 – 443Missing in HSAS. 1 Publication5
Natural variantiVAR_003935452G → R in HSAS; severe. 2 PublicationsCorresponds to variant dbSNP:rs137852520Ensembl.1
Natural variantiVAR_003936473R → C in HSAS and MASA. 1 Publication1
Natural variantiVAR_030412497C → Y in HSAS. 1 Publication1
Natural variantiVAR_030413526Missing in HSAS. 1 Publication1
Natural variantiVAR_030414542S → P in HSAS. 1 Publication1
Natural variantiVAR_030415655K → E in HSAS. 1 Publication1
Natural variantiVAR_030416691A → T in HSAS. 1 Publication1
Natural variantiVAR_003940698G → R in HSAS and MASA; associated with callosal agenesis; also found in a patient affected by hydrocephalus with Hirschsprung disease. 2 Publications1
Natural variantiVAR_030418741M → T in HSAS. 1 Publication1
Natural variantiVAR_030419751R → P in HSAS. 1 Publication1
Natural variantiVAR_014421752V → 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:rs137852525Ensembl.1
Natural variantiVAR_003941768V → F in HSAS. 1 Publication1
Natural variantiVAR_003942784Y → C in HSAS. 1 PublicationCorresponds to variant dbSNP:rs797045674Ensembl.1
Natural variantiVAR_003943935L → P in HSAS. 1 Publication1
Natural variantiVAR_003944936 – 948Missing in HSAS. 1 PublicationAdd BLAST13
Natural variantiVAR_003945941P → 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 Publications1
Natural variantiVAR_0783821036W → 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 Publication1
Natural variantiVAR_0039461070Y → C in HSAS; partial loss of axon guidance and loss of proper synapse formation, when assayed in a heterologous system. 2 Publications1
Natural variantiVAR_0039471194S → L in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852522Ensembl.1
Natural variantiVAR_0039481224S → L in HSAS. 1 Publication1
Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)21 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features include spasticity and hyperreflexia of lower limbs, shuffling gait, mental retardation, aphasia and adducted thumbs. The features of spasticity have been referred to as complicated spastic paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus. Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA, SPG1, and agenesis of corpus callosum can be present within the same family.
See also OMIM:303350
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003923179I → S in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852523Ensembl.1
Natural variantiVAR_030405202D → Y in MASA; loss of homophilic interactions at the cell surface; no effect on localization at the cell surface. 3 Publications1
Natural variantiVAR_003926210H → 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:rs28933683Ensembl.1
Natural variantiVAR_030406268G → D in MASA. 1 Publication1
Natural variantiVAR_003930309E → 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:rs367665974Ensembl.1
Natural variantiVAR_003931335W → R in HSAS and MASA; also in a patient with hydrocephalus and Hirschsprung disease. 2 Publications1
Natural variantiVAR_003932370G → R in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852524Ensembl.1
Natural variantiVAR_030410426A → D in MASA. 1 Publication1
Natural variantiVAR_003936473R → C in HSAS and MASA. 1 Publication1
Natural variantiVAR_030411482L → P in MASA. 1 Publication1
Natural variantiVAR_003937598D → N in MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852519Ensembl.1
Natural variantiVAR_003938632R → P in MASA. 1 Publication1
Natural variantiVAR_027513674S → C in MASA; associated with callosal agenesis. 1 Publication1
Natural variantiVAR_003939691A → D in MASA; associated with callosal agenesis. 2 Publications1
Natural variantiVAR_003940698G → R in HSAS and MASA; associated with callosal agenesis; also found in a patient affected by hydrocephalus with Hirschsprung disease. 2 Publications1
Natural variantiVAR_014421752V → 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:rs137852525Ensembl.1
Natural variantiVAR_027514770D → N in MASA; associated with callosal agenesis. 1 PublicationCorresponds to variant dbSNP:rs148516831Ensembl.1
Natural variantiVAR_003945941P → 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 Publications1
Natural variantiVAR_0039471194S → L in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852522Ensembl.1
Defects in L1CAM may contribute to Hirschsprung disease by modifying the effects of Hirschsprung disease-associated genes to cause intestinal aganglionosis.1 Publication
Agenesis of the corpus callosum, X-linked, partial (ACCPX)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by partial corpus callosum agenesis, hypoplasia of inferior vermis and cerebellum, mental retardation, seizures and spasticity. Other features include microcephaly, unusual facies, and Hirschsprung disease in some patients.
See also OMIM:304100
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003928240P → L in HSAS and ACCPX. 2 PublicationsCorresponds to variant dbSNP:rs137852526Ensembl.1
Defects in L1CAM are associated with a wide phenotypic spectrum which varies from severe hydrocephalus and prenatal death (HSAS) to a milder phenotype (MASA). These variations may even occur within the same family. Due to the overlap of phenotypes between HSAS and MASA, many authors use the general concept of L1 syndrome which covers both ends of the spectrum.3 Publications

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1147 – 1153KGGKYSV → AGGAASA: Loss of axon guidance, when assayed in a heterologous system, but normal synapse formation. 1 Publication7

Keywords - Diseasei

Disease mutation, Hereditary spastic paraplegia, Hirschsprung disease, Mental retardation, Neurodegeneration

Organism-specific databases

DisGeNETi3897.
MalaCardsiL1CAM.
MIMi303350. phenotype.
304100. phenotype.
307000. phenotype.
OpenTargetsiENSG00000198910.
Orphaneti2182. 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.
PharmGKBiPA30259.

Polymorphism and mutation databases

DMDMi1705571.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 191 PublicationAdd BLAST19
ChainiPRO_000001502220 – 1257Neural cell adhesion molecule L1Add BLAST1238

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi57 ↔ 114PROSITE-ProRule annotation
Glycosylationi100N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi158 ↔ 209PROSITE-ProRule annotation
Glycosylationi203N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi247N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi264 ↔ 312PROSITE-ProRule annotation
Glycosylationi294N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi354 ↔ 404PROSITE-ProRule annotation
Glycosylationi433N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi448 ↔ 497PROSITE-ProRule annotation
Glycosylationi479N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi490N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi505N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi539 ↔ 591PROSITE-ProRule annotation
Glycosylationi588N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi671N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi726N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi777N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi825N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi849N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi876N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi979N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1022N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1030N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1071N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1105N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1163PhosphoserineCombined sources1
Modified residuei1178PhosphoserineBy similarity1
Modified residuei1181Phosphoserine; by CaMK21 Publication1
Modified residuei1194PhosphoserineCombined sources1
Modified residuei1243PhosphoserineCombined sources1
Modified residuei1244PhosphoserineBy similarity1
Modified residuei1248PhosphoserineCombined sources1
Isoform 3 (identifier: P32004-3)
Modified residuei1172PhosphoserineCombined sources1
Isoform 2 (identifier: P32004-2)
Modified residuei1177PhosphoserineCombined sources1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiP32004.
MaxQBiP32004.
PaxDbiP32004.
PeptideAtlasiP32004.
PRIDEiP32004.

PTM databases

iPTMnetiP32004.
PhosphoSitePlusiP32004.
SwissPalmiP32004.

Miscellaneous databases

PMAP-CutDBiP32004.

Expressioni

Gene expression databases

BgeeiENSG00000198910.
CleanExiHS_L1CAM.
ExpressionAtlasiP32004. baseline and differential.
GenevisibleiP32004. HS.

Organism-specific databases

HPAiCAB010896.
HPA005830.

Interactioni

Subunit structurei

Interacts with SHTN1; the interaction occurs in axonal growth cones.By similarity

GO - Molecular functioni

  • protein domain specific binding Source: CAFA

Protein-protein interaction databases

BioGridi110094. 23 interactors.
IntActiP32004. 4 interactors.
MINTiMINT-1369985.
STRINGi9606.ENSP00000359074.

Structurei

3D structure databases

DisProtiDP00666.
ProteinModelPortaliP32004.
SMRiP32004.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini35 – 125Ig-like C2-type 1Add BLAST91
Domaini139 – 226Ig-like C2-type 2Add BLAST88
Domaini240 – 328Ig-like C2-type 3Add BLAST89
Domaini333 – 420Ig-like C2-type 4Add BLAST88
Domaini425 – 507Ig-like C2-type 5Add BLAST83
Domaini518 – 607Ig-like C2-type 6Add BLAST90
Domaini615 – 712Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST98
Domaini717 – 810Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST94
Domaini814 – 916Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST103
Domaini920 – 1015Fibronectin type-III 4PROSITE-ProRule annotationAdd BLAST96
Domaini1016 – 1115Fibronectin type-III 5PROSITE-ProRule annotationAdd BLAST100

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi554 – 556Cell attachment siteSequence analysis3

Sequence similaritiesi

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG3513. Eukaryota.
ENOG410XSVG. LUCA.
GeneTreeiENSGT00760000118840.
HOGENOMiHOG000231380.
HOVERGENiHBG000144.
InParanoidiP32004.
KOiK06550.
OMAiMDWNAPQ.
OrthoDBiEOG091G00LY.
PhylomeDBiP32004.
TreeFamiTF351098.

Family and domain databases

CDDicd00063. FN3. 4 hits.
Gene3Di2.60.40.10. 11 hits.
InterProiView protein in InterPro
IPR003961. FN3_dom.
IPR007110. Ig-like_dom.
IPR013783. Ig-like_fold.
IPR013098. Ig_I-set.
IPR003599. Ig_sub.
IPR003598. Ig_sub2.
IPR026966. Neurofascin/L1/NrCAM_C.
PfamiView protein in Pfam
PF13882. Bravo_FIGEY. 1 hit.
PF00041. fn3. 4 hits.
PF07679. I-set. 2 hits.
SMARTiView protein in SMART
SM00060. FN3. 4 hits.
SM00409. IG. 6 hits.
SM00408. IGc2. 5 hits.
SUPFAMiSSF48726. SSF48726. 6 hits.
SSF49265. SSF49265. 2 hits.
PROSITEiView protein in PROSITE
PS50853. FN3. 5 hits.
PS50835. IG_LIKE. 6 hits.

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: P32004-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:1,257
Mass (Da):140,003
Last modified:October 1, 1996 - v2
Checksum:i5EDD764DA86C0E63
GO
Isoform 2 (identifier: P32004-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1177-1180: Missing.

Show »
Length:1,253
Mass (Da):139,517
Checksum:i23AD19B26C8C9971
GO
Isoform 3 (identifier: P32004-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     26-31: YEGHHV → L
     1177-1180: Missing.

Show »
Length:1,248
Mass (Da):138,908
Checksum:iF5954FD80954368B
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti4A → V in CAA42508 (PubMed:1932117).Curated1
Sequence conflicti216T → I in CAA42508 (PubMed:1932117).Curated1
Sequence conflicti250S → T in CAA42508 (PubMed:1932117).Curated1
Sequence conflicti276 – 277WL → SV in CAA42508 (PubMed:1932117).Curated2
Sequence conflicti288V → A in ABP88252 (Ref. 6) Curated1
Sequence conflicti357Q → E in CAA42508 (PubMed:1932117).Curated1
Sequence conflicti515K → T in ABP88252 (Ref. 6) Curated1
Sequence conflicti626L → V in CAA42508 (PubMed:1932117).Curated1
Sequence conflicti660E → G in ABP88252 (Ref. 6) Curated1
Sequence conflicti936L → V in CAB37831 (PubMed:1923824).Curated1
Sequence conflicti1116 – 1117GF → WLC no nucleotide entry (PubMed:1993895).Curated2
Sequence conflicti1164E → V in ABP88252 (Ref. 6) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0039219W → S in HSAS. 1 Publication1
Natural variantiVAR_07835026 – 1257Missing Probable disease-associated mutation found in L1 syndrome. 1 PublicationAdd BLAST1232
Natural variantiVAR_03040330H → N1 Publication1
Natural variantiVAR_07835137I → N Probable disease-associated mutation 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 Publications1
Natural variantiVAR_07835238T → M No effect on localization at the cell surface. 2 Publications1
Natural variantiVAR_07835366 – 1257Missing Probable disease-associated mutation found in L1 syndrome. 1 PublicationAdd BLAST1192
Natural variantiVAR_078354109 – 1257Missing Probable disease-associated mutation found in L1 syndrome. 1 PublicationAdd BLAST1149
Natural variantiVAR_078355120L → 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_003922121G → S in HSAS. 1 Publication1
Natural variantiVAR_078356133 – 1257Missing Probable disease-associated mutation found in L1 syndrome. 1 PublicationAdd BLAST1125
Natural variantiVAR_078357138 – 1257Missing Probable disease-associated mutation found in L1 syndrome. 1 PublicationAdd BLAST1120
Natural variantiVAR_078358172M → I Found in a patient with L1 syndrome; unknown pathological significance; loss of homophilic interactions at the cell surface; no effect on the localization at the cell surface. 2 Publications1
Natural variantiVAR_003923179I → S in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852523Ensembl.1
Natural variantiVAR_078359184R → G Probable disease-associated mutation found in L1 syndrome. 1 Publication1
Natural variantiVAR_003924184R → 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:rs137852521Ensembl.1
Natural variantiVAR_030404184R → W in HSAS. 1 Publication1
Natural variantiVAR_078360187 – 198Missing Probable disease-associated mutation found in L1 syndrome. 1 PublicationAdd BLAST12
Natural variantiVAR_003925194Y → C in HSAS. 1 Publication1
Natural variantiVAR_030405202D → Y in MASA; loss of homophilic interactions at the cell surface; no effect on localization at the cell surface. 3 Publications1
Natural variantiVAR_003926210H → 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:rs28933683Ensembl.1
Natural variantiVAR_003927219I → 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 Publications1
Natural variantiVAR_003928240P → L in HSAS and ACCPX. 2 PublicationsCorresponds to variant dbSNP:rs137852526Ensembl.1
Natural variantiVAR_078361254A → D Probable disease-associated mutation found in L1 syndrome. 1 Publication1
Natural variantiVAR_003929264C → 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:rs137852518Ensembl.1
Natural variantiVAR_030406268G → D in MASA. 1 Publication1
Natural variantiVAR_078362276W → R Probable disease-associated mutation found in L1 syndrome. 1 Publication1
Natural variantiVAR_003930309E → 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:rs367665974Ensembl.1
Natural variantiVAR_078363313L → P Probable disease-associated mutation found in L1 syndrome. 1 Publication1
Natural variantiVAR_030407335W → C in HSAS. 1 Publication1
Natural variantiVAR_003931335W → R in HSAS and MASA; also in a patient with hydrocephalus and Hirschsprung disease. 2 Publications1
Natural variantiVAR_078364366 – 1257Missing Probable disease-associated mutation found in L1 syndrome. 1 PublicationAdd BLAST892
Natural variantiVAR_078365369N → K Probable disease-associated mutation found in L1 syndrome. 1 Publication1
Natural variantiVAR_003932370G → R in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852524Ensembl.1
Natural variantiVAR_003933386R → C in HSAS. 1 Publication1
Natural variantiVAR_030408408N → I in HSAS. 1 Publication1
Natural variantiVAR_027512415A → P in HSAS. 2 Publications1
Natural variantiVAR_030409421V → D in HSAS. 1 Publication1
Natural variantiVAR_078366423 – 1257Missing Probable disease-associated mutation found in L1 syndrome. 1 PublicationAdd BLAST835
Natural variantiVAR_030410426A → D in MASA. 1 Publication1
Natural variantiVAR_003934439 – 443Missing in HSAS. 1 Publication5
Natural variantiVAR_003935452G → R in HSAS; severe. 2 PublicationsCorresponds to variant dbSNP:rs137852520Ensembl.1
Natural variantiVAR_003936473R → C in HSAS and MASA. 1 Publication1
Natural variantiVAR_078367480G → R Probable disease-associated mutation found in L1 syndrome. 1 Publication1
Natural variantiVAR_030411482L → P in MASA. 1 Publication1
Natural variantiVAR_030412497C → Y in HSAS. 1 Publication1
Natural variantiVAR_078368516D → N Found in a patient with L1 syndrome; unknown pathological significance. 1 Publication1
Natural variantiVAR_078369516D → Y Found in a patient with L1 syndrome; unknown pathological significance. 1 Publication1
Natural variantiVAR_078370525R → H Found in a patient with L1 syndrome; unknown pathological significance. 1 Publication1
Natural variantiVAR_030413526Missing in HSAS. 1 Publication1
Natural variantiVAR_030414542S → P in HSAS. 1 Publication1
Natural variantiVAR_003937598D → N in MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852519Ensembl.1
Natural variantiVAR_078371627T → M1 Publication1
Natural variantiVAR_003938632R → P in MASA. 1 Publication1
Natural variantiVAR_078372635W → C Probable disease-associated mutation 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 Publication1
Natural variantiVAR_078373645I → P Probable disease-associated mutation found in L1 syndrome; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_030415655K → E in HSAS. 1 Publication1
Natural variantiVAR_078374662 – 1257Missing Probable disease-associated mutation found in L1 syndrome. 1 PublicationAdd BLAST596
Natural variantiVAR_027513674S → C in MASA; associated with callosal agenesis. 1 Publication1
Natural variantiVAR_003939691A → D in MASA; associated with callosal agenesis. 2 Publications1
Natural variantiVAR_030416691A → T in HSAS. 1 Publication1
Natural variantiVAR_003940698G → R in HSAS and MASA; associated with callosal agenesis; also found in a patient affected by hydrocephalus with Hirschsprung disease. 2 Publications1
Natural variantiVAR_078375714P → S Probable disease-associated mutation found in L1 syndrome. 1 Publication1
Natural variantiVAR_030417739R → W1 PublicationCorresponds to variant dbSNP:rs142424573Ensembl.1
Natural variantiVAR_030418741M → T in HSAS. 1 Publication1
Natural variantiVAR_030419751R → P in HSAS. 1 Publication1
Natural variantiVAR_014421752V → 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:rs137852525Ensembl.1
Natural variantiVAR_078376754W → R Probable disease-associated mutation found in L1 syndrome. 1 Publication1
Natural variantiVAR_078377760 – 1257Missing Probable disease-associated mutation found in L1 syndrome. 1 PublicationAdd BLAST498
Natural variantiVAR_003941768V → F in HSAS. 1 Publication1
Natural variantiVAR_030420768V → I Decreased cell-cell adhesion; no effect on subcellular localization; no effect on neurite outgrowth. 2 PublicationsCorresponds to variant dbSNP:rs36021462Ensembl.1
Natural variantiVAR_027514770D → N in MASA; associated with callosal agenesis. 1 PublicationCorresponds to variant dbSNP:rs148516831Ensembl.1
Natural variantiVAR_003942784Y → C in HSAS. 1 PublicationCorresponds to variant dbSNP:rs797045674Ensembl.1
Natural variantiVAR_078378789 – 1257Missing Probable disease-associated mutation found in L1 syndrome. 2 PublicationsAdd BLAST469
Natural variantiVAR_078379811 – 1257Missing Probable disease-associated mutation found in L1 syndrome. 1 PublicationAdd BLAST447
Natural variantiVAR_078380891 – 1257Missing Probable disease-associated mutation found in L1 syndrome. 1 PublicationAdd BLAST367
Natural variantiVAR_078381901 – 1257Missing Probable disease-associated mutation found in L1 syndrome. 1 PublicationAdd BLAST357
Natural variantiVAR_003943935L → P in HSAS. 1 Publication1
Natural variantiVAR_003944936 – 948Missing in HSAS. 1 PublicationAdd BLAST13
Natural variantiVAR_003945941P → 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 Publications1
Natural variantiVAR_059413958L → V. Corresponds to variant dbSNP:rs35902890Ensembl.1
Natural variantiVAR_0783821036W → 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 Publication1
Natural variantiVAR_0783831064 – 1257Missing Probable disease-associated mutation found in L1 syndrome. 1 PublicationAdd BLAST194
Natural variantiVAR_0039461070Y → C in HSAS; partial loss of axon guidance and loss of proper synapse formation, when assayed in a heterologous system. 2 Publications1
Natural variantiVAR_0783841071Missing Probable disease-associated mutation found in L1 syndrome. 1 Publication1
Natural variantiVAR_0783851080L → Q Probable disease-associated mutation found in L1 syndrome. 1 Publication1
Natural variantiVAR_0039471194S → L in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852522Ensembl.1
Natural variantiVAR_0039481224S → L in HSAS. 1 Publication1
Natural variantiVAR_0304211239G → E1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_04631726 – 31YEGHHV → L in isoform 3. 1 Publication6
Alternative sequenceiVSP_0025911177 – 1180Missing in isoform 2 and isoform 3. 2 Publications4

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.
CCDSiCCDS14733.1. [P32004-1]
CCDS14734.1. [P32004-2]
CCDS48192.1. [P32004-3]
PIRiA41060.
RefSeqiNP_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]
UniGeneiHs.522818.

Genome annotation databases

EnsembliENST00000361699; ENSP00000355380; ENSG00000198910. [P32004-2]
ENST00000361981; ENSP00000354712; ENSG00000198910. [P32004-3]
ENST00000370055; ENSP00000359072; ENSG00000198910. [P32004-3]
ENST00000370060; ENSP00000359077; ENSG00000198910. [P32004-1]
GeneIDi3897.
KEGGihsa:3897.
UCSCiuc004fjc.5. human. [P32004-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS14733.1. [P32004-1]
CCDS14734.1. [P32004-2]
CCDS48192.1. [P32004-3]
PIRiA41060.
RefSeqiNP_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]
UniGeneiHs.522818.

3D structure databases

DisProtiDP00666.
ProteinModelPortaliP32004.
SMRiP32004.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110094. 23 interactors.
IntActiP32004. 4 interactors.
MINTiMINT-1369985.
STRINGi9606.ENSP00000359074.

PTM databases

iPTMnetiP32004.
PhosphoSitePlusiP32004.
SwissPalmiP32004.

Polymorphism and mutation databases

DMDMi1705571.

Proteomic databases

EPDiP32004.
MaxQBiP32004.
PaxDbiP32004.
PeptideAtlasiP32004.
PRIDEiP32004.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000361699; ENSP00000355380; ENSG00000198910. [P32004-2]
ENST00000361981; ENSP00000354712; ENSG00000198910. [P32004-3]
ENST00000370055; ENSP00000359072; ENSG00000198910. [P32004-3]
ENST00000370060; ENSP00000359077; ENSG00000198910. [P32004-1]
GeneIDi3897.
KEGGihsa:3897.
UCSCiuc004fjc.5. human. [P32004-1]

Organism-specific databases

CTDi3897.
DisGeNETi3897.
GeneCardsiL1CAM.
GeneReviewsiL1CAM.
HGNCiHGNC:6470. L1CAM.
HPAiCAB010896.
HPA005830.
MalaCardsiL1CAM.
MIMi303350. phenotype.
304100. phenotype.
307000. phenotype.
308840. gene.
neXtProtiNX_P32004.
OpenTargetsiENSG00000198910.
Orphaneti2182. 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.
PharmGKBiPA30259.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3513. Eukaryota.
ENOG410XSVG. LUCA.
GeneTreeiENSGT00760000118840.
HOGENOMiHOG000231380.
HOVERGENiHBG000144.
InParanoidiP32004.
KOiK06550.
OMAiMDWNAPQ.
OrthoDBiEOG091G00LY.
PhylomeDBiP32004.
TreeFamiTF351098.

Enzyme and pathway databases

ReactomeiR-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.
SIGNORiP32004.

Miscellaneous databases

ChiTaRSiL1CAM. human.
GeneWikiiL1_(protein).
GenomeRNAii3897.
PMAP-CutDBiP32004.
PROiPR:P32004.
SOURCEiSearch...

Gene expression databases