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UniProtKB - P32004 (L1CAM_HUMAN)

Entry version 212 (05 Jun 2019)
Sequence version 2 (01 Oct 1996)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

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

<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

  • axon guidance receptor activity Source: GO_Central
  • protein domain specific binding Source: CAFA
Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDevelopmental protein
Biological processCell adhesion, Differentiation, Neurogenesis

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...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

SIGNOR Signaling Network Open Resource

More...SIGNORi		P32004

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Neural cell adhesion molecule L1
Short name:
N-CAM-L1
Short name:
NCAM-L1
Alternative name(s):
CD_antigen: CD171
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:L1CAM
Synonyms:CAML1, MIC5
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome X

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:6470 L1CAM

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		308840 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P32004

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini20 – 1120ExtracellularSequence analysisAdd BLAST1101
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1121 – 1143HelicalSequence analysisAdd BLAST23
Topological domaini1144 – 1257CytoplasmicSequence analysisAdd BLAST114

Keywords - Cellular componenti

Cell membrane, Cell projection, Membrane

<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

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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:rs137852523EnsemblClinVar.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:rs137852521EnsemblClinVar.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:rs137852526EnsemblClinVar.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:rs137852518EnsemblClinVar.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:rs137852524EnsemblClinVar.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:rs137852520EnsemblClinVar.1
Natural variantiVAR_003936473R → C in HSAS and MASA. 1 PublicationCorresponds to variant dbSNP:rs886039408EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs1375788131Ensembl.1
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 PublicationsCorresponds to variant dbSNP:rs886039409EnsemblClinVar.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:rs137852525EnsemblClinVar.1
Natural variantiVAR_003941768V → F in HSAS. 1 Publication1
Natural variantiVAR_003942784Y → C in HSAS. 1 PublicationCorresponds to variant dbSNP:rs797045674EnsemblClinVar.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:rs137852522EnsemblClinVar.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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003923179I → S in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852523EnsemblClinVar.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:rs28933683EnsemblClinVar.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:rs137852524EnsemblClinVar.1
Natural variantiVAR_030410426A → D in MASA. 1 Publication1
Natural variantiVAR_003936473R → C in HSAS and MASA. 1 PublicationCorresponds to variant dbSNP:rs886039408EnsemblClinVar.1
Natural variantiVAR_030411482L → P in MASA. 1 PublicationCorresponds to variant dbSNP:rs1064794246EnsemblClinVar.1
Natural variantiVAR_003937598D → N in MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852519EnsemblClinVar.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 PublicationsCorresponds to variant dbSNP:rs886039409EnsemblClinVar.1
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:rs137852525EnsemblClinVar.1
Natural variantiVAR_027514770D → N in MASA; associated with callosal agenesis. 1 PublicationCorresponds to variant dbSNP:rs148516831EnsemblClinVar.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: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 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_003928240P → 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 keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...DisGeNETi		3897

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		L1CAM

MalaCards human disease database

More...MalaCardsi		L1CAM
MIMi303350 phenotype
304100 phenotype
307000 phenotype

Open Targets

More...OpenTargetsi		ENSG00000198910

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA30259

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		L1CAM

Domain mapping of disease mutations (DMDM)

More...DMDMi		1705571

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 191 PublicationAdd BLAST19
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000001502220 – 1257Neural cell adhesion molecule L1Add BLAST1238

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi57 ↔ 114PROSITE-ProRule annotation
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>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
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...EPDi		P32004

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P32004

MaxQB - The MaxQuant DataBase

More...MaxQBi		P32004

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P32004

PeptideAtlas

More...PeptideAtlasi		P32004

PRoteomics IDEntifications database

More...PRIDEi		P32004

ProteomicsDB human proteome resource

More...ProteomicsDBi		54830
54831 [P32004-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1547

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P32004

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P32004

SwissPalm database of S-palmitoylation events

More...SwissPalmi		P32004

Miscellaneous databases

CutDB - Proteolytic event database

More...PMAP-CutDBi		P32004

<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

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000198910 Expressed in 188 organ(s), highest expression level in right hemisphere of cerebellum

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P32004 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P32004 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		CAB010896

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		110094, 30 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P32004

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

More...ELMi		P32004

Protein interaction database and analysis system

More...IntActi		P32004, 4 interactors

Molecular INTeraction database

More...MINTi		P32004

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000359077

<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

Database of protein disorder

More...DisProti		DP00666

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		P32004

Database of comparative protein structure models

More...ModBasei		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi554 – 556Cell attachment siteSequence analysis3

<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

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

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3513 Eukaryota
ENOG410XSVG LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00940000157506

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		HOG000231380

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P32004

KEGG Orthology (KO)

More...KOi		K06550

Identification of Orthologs from Complete Genome Data

More...OMAi		QANDTGH

Database of Orthologous Groups

More...OrthoDBi		293865at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P32004

TreeFam database of animal gene trees

More...TreeFami		TF351098

Family and domain databases

Conserved Domains Database

More...CDDi		cd00063 FN3, 4 hits

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 10 hits

Integrated resource of protein families, domains and functional sites

More...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

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00060 FN3, 4 hits
SM00409 IG, 6 hits
SM00408 IGc2, 5 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48726 SSF48726, 6 hits
SSF49265 SSF49265, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50853 FN3, 5 hits
PS50835 IG_LIKE, 6 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

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

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BLW5H3BLW5_HUMAN
Neural cell adhesion molecule L1
L1CAM
153Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EVM4E7EVM4_HUMAN
Neural cell adhesion molecule L1
L1CAM
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EPI4E7EPI4_HUMAN
Neural cell adhesion molecule L1
L1CAM
150Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PHJ4E9PHJ4_HUMAN
Neural cell adhesion molecule L1
L1CAM
83Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EMY4E7EMY4_HUMAN
Neural cell adhesion molecule L1
L1CAM
90Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0Y5C3H0Y5C3_HUMAN
Neural cell adhesion molecule L1
L1CAM
190Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationsCorresponds to variant dbSNP:rs201151358EnsemblClinVar.1
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 Probable disease-associated mutation 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 Publications1
Natural variantiVAR_003923179I → S in HSAS and MASA. 2 PublicationsCorresponds to variant dbSNP:rs137852523EnsemblClinVar.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:rs137852521EnsemblClinVar.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:rs28933683EnsemblClinVar.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:rs137852526EnsemblClinVar.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:rs137852518EnsemblClinVar.1
Natural variantiVAR_030406268G → D in MASA. 1 Publication1
Natural variantiVAR_078362276W → R Probable disease-associated mutation found in L1 syndrome. 1 PublicationCorresponds to variant dbSNP:rs1131691900EnsemblClinVar.1
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:rs137852524EnsemblClinVar.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:rs137852520EnsemblClinVar.1
Natural variantiVAR_003936473R → C in HSAS and MASA. 1 PublicationCorresponds to variant dbSNP:rs886039408EnsemblClinVar.1
Natural variantiVAR_078367480G → R Probable disease-associated mutation found in L1 syndrome. 1 Publication1
Natural variantiVAR_030411482L → P in MASA. 1 PublicationCorresponds to variant dbSNP:rs1064794246EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs782401498Ensembl.1
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:rs137852519EnsemblClinVar.1
Natural variantiVAR_078371627T → M1 PublicationCorresponds to variant dbSNP:rs398123360EnsemblClinVar.1
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 PublicationCorresponds to variant dbSNP:rs1375788131Ensembl.1
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 PublicationsCorresponds to variant dbSNP:rs886039409EnsemblClinVar.1
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:rs137852525EnsemblClinVar.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:rs36021462EnsemblClinVar.1
Natural variantiVAR_027514770D → N in MASA; associated with callosal agenesis. 1 PublicationCorresponds to variant dbSNP:rs148516831EnsemblClinVar.1
Natural variantiVAR_003942784Y → C in HSAS. 1 PublicationCorresponds to variant dbSNP:rs797045674EnsemblClinVar.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:rs35902890EnsemblClinVar.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:rs137852522EnsemblClinVar.1
Natural variantiVAR_0039481224S → L in HSAS. 1 Publication1
Natural variantiVAR_0304211239G → E1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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]

Protein sequence database of the Protein Information Resource

More...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

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000361699; ENSP00000355380; ENSG00000198910 [P32004-2]
ENST00000361981; ENSP00000354712; ENSG00000198910 [P32004-3]
ENST00000370055; ENSP00000359072; ENSG00000198910 [P32004-3]
ENST00000370060; ENSP00000359077; ENSG00000198910 [P32004-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3897

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3897

UCSC genome browser

More...UCSCi		uc004fjc.5 human [P32004-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi