UniProtKB - P32004 (L1CAM_HUMAN)

>sp|P32004|L1CAM_HUMAN Neural cell adhesion molecule L1 OS=Homo sapiens OX=9606 GN=L1CAM PE=1 SV=2
MVVALRYVWPLLLCSPCLLIQIPEEYEGHHVMEPPVITEQSPRRLVVFPTDDISLKCEAS
GKPEVQFRWTRDGVHFKPKEELGVTVYQSPHSGSFTITGNNSNFAQRFQGIYRCFASNKL
GTAMSHEIRLMAEGAPKWPKETVKPVEVEEGESVVLPCNPPPSAEPLRIYWMNSKILHIK
QDERVTMGQNGNLYFANVLTSDNHSDYICHAHFPGTRTIIQKEPIDLRVKATNSMIDRKP
RLLFPTNSSSHLVALQGQPLVLECIAEGFPTPTIKWLRPSGPMPADRVTYQNHNKTLQLL
KVGEEDDGEYRCLAENSLGSARHAYYVTVEAAPYWLHKPQSHLYGPGETARLDCQVQGRP
QPEVTWRINGIPVEELAKDQKYRIQRGALILSNVQPSDTMVTQCEARNRHGLLLANAYIY
VVQLPAKILTADNQTYMAVQGSTAYLLCKAFGAPVPSVQWLDEDGTTVLQDERFFPYANG
TLGIRDLQANDTGRYFCLAANDQNNVTIMANLKVKDATQITQGPRSTIEKKGSRVTFTCQ
ASFDPSLQPSITWRGDGRDLQELGDSDKYFIEDGRLVIHSLDYSDQGNYSCVASTELDVV
ESRAQLLVVGSPGPVPRLVLSDLHLLTQSQVRVSWSPAEDHNAPIEKYDIEFEDKEMAPE
KWYSLGKVPGNQTSTTLKLSPYVHYTFRVTAINKYGPGEPSPVSETVVTPEAAPEKNPVD
VKGEGNETTNMVITWKPLRWMDWNAPQVQYRVQWRPQGTRGPWQEQIVSDPFLVVSNTST
FVPYEIKVQAVNSQGKGPEPQVTIGYSGEDYPQAIPELEGIEILNSSAVLVKWRPVDLAQ
VKGHLRGYNVTYWREGSQRKHSKRHIHKDHVVVPANTTSVILSGLRPYSSYHLEVQAFNG
RGSGPASEFTFSTPEGVPGHPEALHLECQSNTSLLLRWQPPLSHNGVLTGYVLSYHPLDE
GGKGQLSFNLRDPELRTHNLTDLSPHLRYRFQLQATTKEGPGEAIVREGGTMALSGISDF
GNISATAGENYSVVSWVPKEGQCNFRFHILFKALGEEKGGASLSPQYVSYNQSSYTQWDL
QPDTDYEIHLFKERMFRHQMAVKTNGTGRVRLPPAGFATEGWFIGFVSAIILLLLVLLIL
CFIKRSKGGKYSVKDKEDTQVDSEARPMKDETFGEYRSLESDNEEKAFGSSQPSLNGDIK
PLGSDDSLADYGGSVDVQFNEDGSFIGQYSGKKEKEAAGGNDSSGATSPINPAVALE

Entry version 225 (10 Feb 2021)
Sequence version 2 (01 Oct 1996)
Previous versions | rss

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Protein

Neural cell adhesion molecule L1

Gene

L1CAM

Organism

Homo sapiens (Human)

Status

Reviewed-Annotation score: -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

Complete GO annotation on QuickGO ...

GO - Biological processⁱ

Complete GO annotation on QuickGO ...

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
SIGNORⁱ	P32004

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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:6470, L1CAM
MIMⁱ	308840, gene
neXtProtⁱ	NX_P32004
VEuPathDBⁱ	HostDB:ENSG00000198910.12

Topology

Feature key	Position(s)	DescriptionActions	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, Membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Hydrocephalus due to stenosis of the aqueduct of Sylvius (HSAS)22 Publications

The disease is caused by variants 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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	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:rs137852520Ensembl.	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:rs797045674Ensembl.	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

The disease is caused by variants 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.

Related information in OMIM

Feature key	Position(s)	DescriptionActions	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:rs367665974Ensembl.	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

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 variants 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.

Related information in OMIM

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

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 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, Neurodegeneration

Organism-specific databases

DisGeNET More...DisGeNETⁱ	3897
GeneReviewsⁱ	L1CAM
MalaCards human disease database More...MalaCardsⁱ	L1CAM
MIMⁱ	303350, phenotype 304100, phenotype 307000, phenotype
Open Targets More...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

Pharosⁱ

P32004, Tbio

Chemistry databases

Drug and drug target database More...DrugBankⁱ	DB00898, Ethanol

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	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, Phosphoprotein

Proteomic databases

EPDⁱ	P32004
jPOSTⁱ	P32004
MassIVEⁱ	P32004
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P32004
PaxDbⁱ	P32004
PeptideAtlas More...PeptideAtlasⁱ	P32004
PRIDEⁱ	P32004
ProteomicsDBⁱ	33733 54830 [P32004-1] 54831 [P32004-2]

PTM databases

GlyConnectⁱ	1547, 18 N-Linked glycans (4 sites)
GlyGenⁱ	P32004, 21 sites, 2 N-linked glycans (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

Human Protein Atlas More...HPAⁱ	ENSG00000198910, Tissue enhanced (adrenal gland, brain)

HPAⁱ

ENSG00000198910, Tissue enhanced (adrenal gland, brain)

Interactionⁱ

Subunit structureⁱ

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

Interacts with isoform 2 of BSG (By similarity).

By similarity

GO - Molecular functionⁱ

protein domain specific binding
Source: CAFA
Inferred from direct assayⁱ
- "Characterization of the neuron-specific L1-CAM cytoplasmic tail: naturally disordered in solution it exercises different binding modes for different adaptor proteins."
  Tyukhtenko S., Deshmukh L., Kumar V., Lary J., Cole J., Lemmon V., Vinogradova O.
  Biochemistry 47:4160-4168(2008) [PubMed] [Europe PMC] [Abstract]

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGRIDⁱ	110094, 42 interactors
CORUMⁱ	P32004
ELMⁱ	P32004
IntActⁱ	P32004, 11 interactors
Molecular INTeraction database More...MINTⁱ	P32004
STRINGⁱ	9606.ENSP00000359077

Miscellaneous databases

RNActⁱ	P32004, protein

RNActⁱ

P32004, protein

Structureⁱ

3D structure databases

SMRⁱ	P32004
ModBaseⁱ	Search...

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	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

Motif

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Motifⁱ	554 – 556	Cell attachment siteSequence analysis		3

Sequence similaritiesⁱ

Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.Curated

Keywords - Domainⁱ

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	KOG3513, Eukaryota
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00940000157506
HOGENOMⁱ	CLU_005756_1_1_1
InParanoidⁱ	P32004
OMAⁱ	VKWWPVD
Database of Orthologous Groups More...OrthoDBⁱ	434404at2759
PhylomeDBⁱ	P32004
TreeFamⁱ	TF351098

Family and domain databases

Conserved Domains Database More...CDDⁱ	cd00063, FN3, 4 hits
Database of protein disorder More...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
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF13882, Bravo_FIGEY, 1 hit PF00041, fn3, 4 hits PF07679, I-set, 3 hits
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

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. Align Add to basket

This entry has 3 described isoforms and 6 potential isoforms that are computationally mapped.Show all Align All

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

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

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        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

Isoform 2 (identifier: P32004-2) [UniParc]FASTA Add to basket

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

« 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 ETFGEYSDNE EKAFGSSQPS LNGDIKPLGS 
      1210       1220       1230       1240       1250
DDSLADYGGS VDVQFNEDGS FIGQYSGKKE KEAAGGNDSS GATSPINPAV 

ALE

Show »

Length:1,253

Mass (Da):139,517

Checksum:ⁱ23AD19B26C8C9971

Isoform 3 (identifier: P32004-3) [UniParc]FASTA Add to basket

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

« Hide

        10         20         30         40         50
MVVALRYVWP LLLCSPCLLI QIPEELMEPP VITEQSPRRL VVFPTDDISL 
        60         70         80         90        100
KCEASGKPEV QFRWTRDGVH FKPKEELGVT VYQSPHSGSF TITGNNSNFA 
       110        120        130        140        150
QRFQGIYRCF ASNKLGTAMS HEIRLMAEGA PKWPKETVKP VEVEEGESVV 
       160        170        180        190        200
LPCNPPPSAE PLRIYWMNSK ILHIKQDERV TMGQNGNLYF ANVLTSDNHS 
       210        220        230        240        250
DYICHAHFPG TRTIIQKEPI DLRVKATNSM IDRKPRLLFP TNSSSHLVAL 
       260        270        280        290        300
QGQPLVLECI AEGFPTPTIK WLRPSGPMPA DRVTYQNHNK TLQLLKVGEE 
       310        320        330        340        350
DDGEYRCLAE NSLGSARHAY YVTVEAAPYW LHKPQSHLYG PGETARLDCQ 
       360        370        380        390        400
VQGRPQPEVT WRINGIPVEE LAKDQKYRIQ RGALILSNVQ PSDTMVTQCE 
       410        420        430        440        450
ARNRHGLLLA NAYIYVVQLP AKILTADNQT YMAVQGSTAY LLCKAFGAPV 
       460        470        480        490        500
PSVQWLDEDG TTVLQDERFF PYANGTLGIR DLQANDTGRY FCLAANDQNN 
       510        520        530        540        550
VTIMANLKVK DATQITQGPR STIEKKGSRV TFTCQASFDP SLQPSITWRG 
       560        570        580        590        600
DGRDLQELGD SDKYFIEDGR LVIHSLDYSD QGNYSCVAST ELDVVESRAQ 
       610        620        630        640        650
LLVVGSPGPV PRLVLSDLHL LTQSQVRVSW SPAEDHNAPI EKYDIEFEDK 
       660        670        680        690        700
EMAPEKWYSL GKVPGNQTST TLKLSPYVHY TFRVTAINKY GPGEPSPVSE 
       710        720        730        740        750
TVVTPEAAPE KNPVDVKGEG NETTNMVITW KPLRWMDWNA PQVQYRVQWR 
       760        770        780        790        800
PQGTRGPWQE QIVSDPFLVV SNTSTFVPYE IKVQAVNSQG KGPEPQVTIG 
       810        820        830        840        850
YSGEDYPQAI PELEGIEILN SSAVLVKWRP VDLAQVKGHL RGYNVTYWRE 
       860        870        880        890        900
GSQRKHSKRH IHKDHVVVPA NTTSVILSGL RPYSSYHLEV QAFNGRGSGP 
       910        920        930        940        950
ASEFTFSTPE GVPGHPEALH LECQSNTSLL LRWQPPLSHN GVLTGYVLSY 
       960        970        980        990       1000
HPLDEGGKGQ LSFNLRDPEL RTHNLTDLSP HLRYRFQLQA TTKEGPGEAI 
      1010       1020       1030       1040       1050
VREGGTMALS GISDFGNISA TAGENYSVVS WVPKEGQCNF RFHILFKALG 
      1060       1070       1080       1090       1100
EEKGGASLSP QYVSYNQSSY TQWDLQPDTD YEIHLFKERM FRHQMAVKTN 
      1110       1120       1130       1140       1150
GTGRVRLPPA GFATEGWFIG FVSAIILLLL VLLILCFIKR SKGGKYSVKD 
      1160       1170       1180       1190       1200
KEDTQVDSEA RPMKDETFGE YSDNEEKAFG SSQPSLNGDI KPLGSDDSLA 
      1210       1220       1230       1240 
DYGGSVDVQF NEDGSFIGQY SGKKEKEAAG GNDSSGATSP INPAVALE

Show »

Length:1,248

Mass (Da):138,908

Checksum:ⁱF5954FD80954368B

Computationally mapped potential isoform sequencesⁱ

There are 6 potential isoforms mapped to this entry.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation

H3BLW5	H3BLW5_HUMAN	Neural cell adhesion molecule L1 Neural cell adhesion molecule L1	L1CAM	153	Annotation score:
E7EVM4	E7EVM4_HUMAN	Neural cell adhesion molecule L1 Neural cell adhesion molecule L1	L1CAM	128	Annotation score:
E7EMY4	E7EMY4_HUMAN	Neural cell adhesion molecule L1 Neural cell adhesion molecule L1	L1CAM	90	Annotation score:
E9PHJ4	E9PHJ4_HUMAN	Neural cell adhesion molecule L1 Neural cell adhesion molecule L1	L1CAM	83	Annotation score:
E7EPI4	E7EPI4_HUMAN	Neural cell adhesion molecule L1 Neural cell adhesion molecule L1	L1CAM	150	Annotation score:
H0Y5C3	H0Y5C3_HUMAN	Neural cell adhesion molecule L1 Neural cell adhesion molecule L1	L1CAM	190	Annotation score:

Experimental Info

Feature key	Position(s)	DescriptionActions	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	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:rs367665974Ensembl.	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:rs137852520Ensembl.	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:rs797045674Ensembl.	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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS14733.1 [P32004-1] CCDS14734.1 [P32004-2] CCDS48192.1 [P32004-3]
PIRⁱ	A41060
NCBI Reference Sequences More...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 [P32004-1]
GeneIDⁱ	3897
KEGGⁱ	hsa:3897
UCSC genome browser More...UCSCⁱ	uc004fjc.5, human [P32004-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

UniProtKB

UniParc

Help

UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - P32004 (L1CAM_HUMAN)

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Neural cell adhesion molecule L1

L1CAM

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Plasma membrane

Other locations

Extracellular region or secreted

Plasma Membrane

Other locations

Topology

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Mutagenesis

Keywords - Diseasei

Organism-specific databases

Miscellaneous databases

Chemistry databases

Genetic variation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Motif

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Keywords - Domainⁱ

Keywords - Coding sequence diversityⁱ