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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

Cell adhesion molecule with an important role in the development of the nervous system. Involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. Binds to axonin on neurons.

GO - Biological processi

  • axon guidance Source: Reactome
  • cell adhesion Source: ProtInc
  • chemotaxis Source: BHF-UCL
  • leukocyte migration Source: Reactome
  • nervous system development Source: ProtInc
  • positive regulation of axon extension Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Cell 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

  • Cell membrane By similarity; Single-pass type I membrane protein By similarity
  • Cell projectiongrowth cone By similarity

  • Note: Colocalized with SHTN1 in close apposition with actin filaments in filopodia and lamellipodia of axonalne growth cones of hippocampal neurons.By similarity

Topology

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

GO - Cellular componenti

  • axonal growth cone Source: UniProtKB
  • cell surface Source: UniProtKB
  • focal adhesion Source: UniProtKB
  • integral component of membrane Source: UniProtKB-KW
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Cell projection, Membrane

Pathology & Biotechi

Involvement in diseasei

Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)14 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, MASA and SPG1. 1 PublicationCorresponds to variant rs137852523dbSNPEnsembl.1
Natural variantiVAR_003924184R → Q in HSAS; severe. 3 PublicationsCorresponds to variant rs137852521dbSNPEnsembl.1
Natural variantiVAR_030404184R → W in HSAS. 1 Publication1
Natural variantiVAR_003925194Y → C in HSAS. 1 Publication1
Natural variantiVAR_003927219I → T in HSAS. 1 Publication1
Natural variantiVAR_003928240P → L in HSAS and ACCPX. 2 PublicationsCorresponds to variant rs137852526dbSNPEnsembl.1
Natural variantiVAR_003929264C → Y in HSAS; severe. 2 PublicationsCorresponds to variant rs137852518dbSNPEnsembl.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. 1 Publication1
Natural variantiVAR_003932370G → R in HSAS, MASA and SPG1. 2 PublicationsCorresponds to variant rs137852524dbSNPEnsembl.1
Natural variantiVAR_003933386R → C in HSAS. 1 Publication1
Natural variantiVAR_030408408N → I in HSAS. 1 Publication1
Natural variantiVAR_027512415A → P in HSAS. 1 Publication1
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 rs137852520dbSNPEnsembl.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_003941768V → F in HSAS. 1 Publication1
Natural variantiVAR_003942784Y → C in HSAS. 1 Publication1
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. 1 Publication1
Natural variantiVAR_0039461070Y → C in HSAS. 1 Publication1
Natural variantiVAR_0039471194S → L in HSAS and MASA. 2 PublicationsCorresponds to variant rs137852522dbSNPEnsembl.1
Natural variantiVAR_0039481224S → L in HSAS. 1 Publication1
Mental retardation, aphasia, shuffling gait, and adducted thumbs syndrome (MASA)9 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, MASA and SPG1. 1 PublicationCorresponds to variant rs137852523dbSNPEnsembl.1
Natural variantiVAR_030405202D → Y in MASA. 1 Publication1
Natural variantiVAR_003926210H → Q in MASA. 3 PublicationsCorresponds to variant rs28933683dbSNPEnsembl.1
Natural variantiVAR_030406268G → D in MASA. 1 Publication1
Natural variantiVAR_003930309E → K in MASA. 1 PublicationCorresponds to variant rs367665974dbSNPEnsembl.1
Natural variantiVAR_003931335W → R in HSAS and MASA; also in a patient with hydrocephalus and Hirschsprung disease. 1 Publication1
Natural variantiVAR_003932370G → R in HSAS, MASA and SPG1. 2 PublicationsCorresponds to variant rs137852524dbSNPEnsembl.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 rs137852519dbSNPEnsembl.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 MASA; also in a patient with hydrocephalus and Hirschsprung disease. 2 PublicationsCorresponds to variant rs137852525dbSNPEnsembl.1
Natural variantiVAR_027514770D → N in MASA; associated with callosal agenesis. 1 PublicationCorresponds to variant rs148516831dbSNPEnsembl.1
Natural variantiVAR_003945941P → L in HSAS and MASA. 1 Publication1
Natural variantiVAR_0039471194S → L in HSAS and MASA. 2 PublicationsCorresponds to variant rs137852522dbSNPEnsembl.1
Spastic paraplegia 1, X-linked (SPG1)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body.
See also OMIM:303350
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003923179I → S in HSAS, MASA and SPG1. 1 PublicationCorresponds to variant rs137852523dbSNPEnsembl.1
Natural variantiVAR_003932370G → R in HSAS, MASA and SPG1. 2 PublicationsCorresponds to variant rs137852524dbSNPEnsembl.1

Defects in L1CAM may contribute to Hirschsprung disease by modifying the effects of Hirschsprung disease-associated genes to cause intestinal aganglionosis.

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 rs137852526dbSNPEnsembl.1

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...)Sequence analysis1
Disulfide bondi158 ↔ 209PROSITE-ProRule annotation
Glycosylationi203N-linked (GlcNAc...)Sequence analysis1
Glycosylationi247N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi264 ↔ 312PROSITE-ProRule annotation
Glycosylationi294N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi354 ↔ 404PROSITE-ProRule annotation
Glycosylationi433N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi448 ↔ 497PROSITE-ProRule annotation
Glycosylationi479N-linked (GlcNAc...)Sequence analysis1
Glycosylationi490N-linked (GlcNAc...)Sequence analysis1
Glycosylationi505N-linked (GlcNAc...)Sequence analysis1
Disulfide bondi539 ↔ 591PROSITE-ProRule annotation
Glycosylationi588N-linked (GlcNAc...)Sequence analysis1
Glycosylationi671N-linked (GlcNAc...)2 Publications1
Glycosylationi726N-linked (GlcNAc...)Sequence analysis1
Glycosylationi777N-linked (GlcNAc...)Sequence analysis1
Glycosylationi825N-linked (GlcNAc...)Sequence analysis1
Glycosylationi849N-linked (GlcNAc...)Sequence analysis1
Glycosylationi876N-linked (GlcNAc...)Sequence analysis1
Glycosylationi979N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1022N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1030N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1071N-linked (GlcNAc...)Sequence analysis1
Glycosylationi1105N-linked (GlcNAc...)Sequence 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-CutDBP32004.

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

Protein-protein interaction databases

BioGridi110094. 20 interactors.
IntActiP32004. 4 interactors.
MINTiMINT-1369985.
STRINGi9606.ENSP00000359074.

Structurei

3D structure databases

DisProtiDP00666.
ProteinModelPortaliP32004.
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

Contains 5 fibronectin type-III domains.PROSITE-ProRule annotation

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.
InterProiIPR003961. 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.
[Graphical view]
PfamiPF13882. Bravo_FIGEY. 1 hit.
PF00041. fn3. 4 hits.
PF07679. I-set. 2 hits.
[Graphical view]
SMARTiSM00060. FN3. 4 hits.
SM00409. IG. 6 hits.
SM00408. IGc2. 5 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 6 hits.
SSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 5 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view]

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_03040330H → N.1 Publication1
Natural variantiVAR_003922121G → S in HSAS. 1 Publication1
Natural variantiVAR_003923179I → S in HSAS, MASA and SPG1. 1 PublicationCorresponds to variant rs137852523dbSNPEnsembl.1
Natural variantiVAR_003924184R → Q in HSAS; severe. 3 PublicationsCorresponds to variant rs137852521dbSNPEnsembl.1
Natural variantiVAR_030404184R → W in HSAS. 1 Publication1
Natural variantiVAR_003925194Y → C in HSAS. 1 Publication1
Natural variantiVAR_030405202D → Y in MASA. 1 Publication1
Natural variantiVAR_003926210H → Q in MASA. 3 PublicationsCorresponds to variant rs28933683dbSNPEnsembl.1
Natural variantiVAR_003927219I → T in HSAS. 1 Publication1
Natural variantiVAR_003928240P → L in HSAS and ACCPX. 2 PublicationsCorresponds to variant rs137852526dbSNPEnsembl.1
Natural variantiVAR_003929264C → Y in HSAS; severe. 2 PublicationsCorresponds to variant rs137852518dbSNPEnsembl.1
Natural variantiVAR_030406268G → D in MASA. 1 Publication1
Natural variantiVAR_003930309E → K in MASA. 1 PublicationCorresponds to variant rs367665974dbSNPEnsembl.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. 1 Publication1
Natural variantiVAR_003932370G → R in HSAS, MASA and SPG1. 2 PublicationsCorresponds to variant rs137852524dbSNPEnsembl.1
Natural variantiVAR_003933386R → C in HSAS. 1 Publication1
Natural variantiVAR_030408408N → I in HSAS. 1 Publication1
Natural variantiVAR_027512415A → P in HSAS. 1 Publication1
Natural variantiVAR_030409421V → D in HSAS. 1 Publication1
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 rs137852520dbSNPEnsembl.1
Natural variantiVAR_003936473R → C in HSAS and MASA. 1 Publication1
Natural variantiVAR_030411482L → P in 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_003937598D → N in MASA. 2 PublicationsCorresponds to variant rs137852519dbSNPEnsembl.1
Natural variantiVAR_003938632R → P in MASA. 1 Publication1
Natural variantiVAR_030415655K → E in HSAS. 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_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_030417739R → W.1 PublicationCorresponds to variant rs142424573dbSNPEnsembl.1
Natural variantiVAR_030418741M → T in HSAS. 1 Publication1
Natural variantiVAR_030419751R → P in HSAS. 1 Publication1
Natural variantiVAR_014421752V → M in MASA; also in a patient with hydrocephalus and Hirschsprung disease. 2 PublicationsCorresponds to variant rs137852525dbSNPEnsembl.1
Natural variantiVAR_003941768V → F in HSAS. 1 Publication1
Natural variantiVAR_030420768V → I.1 PublicationCorresponds to variant rs36021462dbSNPEnsembl.1
Natural variantiVAR_027514770D → N in MASA; associated with callosal agenesis. 1 PublicationCorresponds to variant rs148516831dbSNPEnsembl.1
Natural variantiVAR_003942784Y → C in HSAS. 1 Publication1
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. 1 Publication1
Natural variantiVAR_059413958L → V.Corresponds to variant rs35902890dbSNPEnsembl.1
Natural variantiVAR_0039461070Y → C in HSAS. 1 Publication1
Natural variantiVAR_0039471194S → L in HSAS and MASA. 2 PublicationsCorresponds to variant rs137852522dbSNPEnsembl.1
Natural variantiVAR_0039481224S → L in HSAS. 1 Publication1
Natural variantiVAR_0304211239G → E.1 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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110094. 20 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-CutDBP32004.
PROiP32004.
SOURCEiSearch...

Gene expression databases

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

Family and domain databases

CDDicd00063. FN3. 4 hits.
Gene3Di2.60.40.10. 11 hits.
InterProiIPR003961. 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.
[Graphical view]
PfamiPF13882. Bravo_FIGEY. 1 hit.
PF00041. fn3. 4 hits.
PF07679. I-set. 2 hits.
[Graphical view]
SMARTiSM00060. FN3. 4 hits.
SM00409. IG. 6 hits.
SM00408. IGc2. 5 hits.
[Graphical view]
SUPFAMiSSF48726. SSF48726. 6 hits.
SSF49265. SSF49265. 2 hits.
PROSITEiPS50853. FN3. 5 hits.
PS50835. IG_LIKE. 6 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiL1CAM_HUMAN
AccessioniPrimary (citable) accession number: P32004
Secondary accession number(s): A0AV65
, A4ZYW4, B2RMU7, G3XAF4, Q8TA87
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: October 1, 1996
Last modified: November 30, 2016
This is version 188 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.