L1CAM L1 cell adhesion molecule [ Homo sapiens ]

Gene ID: 3897, updated on 20-May-2012

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Summary

Official Symbol: L1CAMprovided by HGNC
Official Full Name: L1 cell adhesion moleculeprovided by HGNC
Primary source: HGNC:6470
See related: Ensembl:ENSG00000198910; HPRD:02394; MIM:308840; Vega:OTTHUMG00000024221
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: S10; HSAS; MASA; MIC5; SPG1; CAML1; CD171; HSAS1; N-CAML1; NCAM-L1; N-CAM-L1
Summary: The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause three X-linked neurological syndromes known by the acronym CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of a neuron-specific exon is thought to be functionally relevant. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: Xq28

Sequence :: Chromosome: X; NC_000023.10 (153126971..153141399, complement)

See L1CAM in Epigenomics, MapViewer

Chromosome X - NC_000023.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

L1CAM promoted cell proliferation by mainly activating ERK signaling.
Title: L1 cell adhesion molecule and epidermal growth factor receptor activation confer cisplatin resistance in intrahepatic cholangiocarcinoma cells.
strong L1 overexpression in tumors of neuroectodermal and neural crest origin
Title: L1 is highly expressed in tumors of the nervous system: a study of over 8000 human tissues.
Two novel mutations in SPG11 gene identified that confirmed link between SPG11 and autosomal recessive hereditary spastic paraplegia with thin corpus callosum.
Title: Autosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.
L1CAM is essential for self-renewal and pluripotency.
Title: Brief report: L1 cell adhesion molecule, a novel surface molecule of human embryonic stem cells, is essential for self-renewal and pluripotency.
H6c7 cells exhibiting elevated L1CAM expression and epithelial-mesenchymal transition-associated alterations show a decreased apoptosis sensitivity toward death ligands
Title: Myofibroblast-induced tumorigenicity of pancreatic ductal epithelial cells is L1CAM dependent.
L1CAM is a novel prognostic marker for non small cell lung cancer cells that is upregulated by epithelial mesenchymal transition induction and appears to be instrumental for enhanced cell invasion
Title: L1CAM protein expression is associated with poor prognosis in non-small cell lung cancer.
L1 might be involved functionally in growth and spread of adenoid cystic carcinoma and might thus present a molecular target for future therapeutic strategies.
Title: Glycoconjugate expression in adenoid cystic carcinoma of the salivary glands: up-regulation of L1 predicts fatal prognosis.
L1 cell adhesion molecule expression could be used as a novel prognostic factor for patient survival and might be a potential therapeutic target in gallbladder carcinomas.
Title: L1 cell adhesion molecule as a novel independent poor prognostic factor in gallbladder carcinoma.
Tumor regulation of L1CAM expression is associated with morphologic features at the invasive front in colorectal cancer.
Title: Expression of l1 cell adhesion molecule and morphologic features at the invasive front of colorectal cancer.
These results suggest that high soluble L1 levels predict poor prognosis and may thus be a promising tumor marker that can contribute to individualise therapy.
Title: Circulating levels of cell adhesion molecule L1 as a prognostic marker in gastrointestinal stromal tumor patients.

Submit: New GeneRIF Correction See all (81)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Corpus callosum, partial agenesis of

MIM: 304100

The phenotypic spectrum of L1 syndrome includes X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome (mental retardation, aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs), SPG1 (X-linked complicated hereditary spastic paraplegia type 1), and X-linked complicated corpus callosum agenesis. Males with HSAS are born with severe hydrocephalus, adducted thumbs, and spasticity; intellectual disability is severe. In less severely affected males, hydrocephalus may be subclinically present and documented only because of developmental delay; intellectual disability ranges from mild (IQ: 50-70) to moderate (IQ: 30-50).

Diagnosis Testing

The diagnosis of L1 syndrome can be established in males with characteristic clinical and neuropathologic findings and a family history consistent with X-linked inheritance. Of note, bilateral absence of the pyramids detected by MRI or autopsy is an almost pathognomonic finding. Molecular genetic testing of L1CAM, the only gene associated with L1 syndrome, is available on a clinical basis.

Genetic Counseling

L1 syndrome is inherited in an X-linked manner. Women who are carriers have a 50% chance of transmitting the disease-causing mutation in each pregnancy. Sons who inherit the mutation will be affected; daughters who inherit the mutation will be carriers. Affected males do not reproduce. Carrier testing of at-risk female relatives and prenatal testing are possible if the L1CAM disease-causing mutation has been identified in an affected family member.

Interactions

Products	Interactant	Other Gene	Source	Pubs	Description
NP_000416.1	NP_066187.2	ANK2	BIND	PubMed	L1CAM interacts with Ankyrin. This interaction was modelled on a demonstrated interaction between human L1CAM and drosophila ankyrin.
NP_000416.1	NP_004059.2	AP2M1	BIND	PubMed	L1CAM interacts with AP-2 mu2 chain. This interaction was modelled on a demonstrated interaction between human L1CAM and AP-2 mu2 chain from an unspecified species.
NP_000416.1	NP_005067.1	CNTN2	BIND	PubMed	L1-CAM interacts with TAG-1.
NP_000416.1	NP_005484.2	RANBP9	BIND	PubMed	L1CAM interacts with RanBPM.
P32004	P16157	ANK1	HPRD	PubMed
P32004	Q01484	ANK2	HPRD	PubMed
P32004	Q12860	CNTN1	HPRD	PubMed
P32004	Q02246	CNTN2	HPRD	PubMed
P32004	P68400	CSNK2A1	HPRD	PubMed
P32004	P15311	EZR	HPRD	PubMed
P32004	P08648	ITGA5	HPRD	PubMed
P32004	P06756	ITGAV	HPRD	PubMed
P32004	P26038	MSN	HPRD	PubMed
P32004	P13591	NCAM1	HPRD	PubMed
P32004	O14594	NCAN	HPRD	PubMed
P32004	P49757	NUMB	HPRD	PubMed
P32004	Q15121	PEA15	HPRD	PubMed
P32004	P04156	PRNP	HPRD	PubMed
P32004	Q96S59	RANBP9	HPRD	PubMed
P32004	P35241	RDX	HPRD	PubMed
P32004	Q15418	RPS6KA1	HPRD	PubMed
P32004	Q15349	RPS6KA2	HPRD	PubMed
BioGRID:110094	BioGRID:106783	ANK1	BioGRID	PubMed	Co-localization
BioGRID:110094	BioGRID:106669	AP2A1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110094	BioGRID:107271	CANX	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110094	BioGRID:112763	CNTN2	BioGRID	PubMed	Reconstituted Complex
BioGRID:110094	BioGRID:113271	EZR	BioGRID	PubMed	Reconstituted Complex
BioGRID:110094	BioGRID:109884	ITGA5	BioGRID	PubMed	Reconstituted Complex
BioGRID:110094	BioGRID:109891	ITGAV	BioGRID	PubMed	Reconstituted Complex
BioGRID:110094	BioGRID:107845	NCAN	BioGRID	PubMed	Reconstituted Complex
BioGRID:110094	BioGRID:114202	NUMB	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110094	BioGRID:114230	PEA15	BioGRID	PubMed	Two-hybrid
BioGRID:110094	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western

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General gene information

Markers

ECD03345 (e-PCR)
- UniSTS:284430

ECD02312 (e-PCR)
- UniSTS:283412

ECD11601 (e-PCR)
- UniSTS:292637

ECD01556 (e-PCR)
- UniSTS:282659

REN87917 (e-PCR)
- UniSTS:412715

REN87918 (e-PCR)
- UniSTS:412716

REN87919 (e-PCR)
- UniSTS:412717

ECD00276 (e-PCR)
- UniSTS:281390

REN87920 (e-PCR)
- UniSTS:412718

REN87921 (e-PCR)
- UniSTS:412719

REN87922 (e-PCR)
- UniSTS:412720

REN87923 (e-PCR)
- UniSTS:412721

ECD02342 (e-PCR)
- UniSTS:283441

REN87924 (e-PCR)
- UniSTS:412722

REN87925 (e-PCR)
- UniSTS:412723

REN87926 (e-PCR)
- UniSTS:412724

REN87927 (e-PCR)
- UniSTS:412725

REN87928 (e-PCR)
- UniSTS:412726

GDB:381859 (e-PCR)
- UniSTS:99126

REN87929 (e-PCR)
- UniSTS:412727

ECD13942 (e-PCR)
- UniSTS:294967

REN87930 (e-PCR)
- UniSTS:412728

REN87931 (e-PCR)
- UniSTS:412729

REN87932 (e-PCR)
- UniSTS:412730

REN87933 (e-PCR)
- UniSTS:412731

REN87934 (e-PCR)
- UniSTS:412732

REN87935 (e-PCR)
- UniSTS:412733

REN87936 (e-PCR)
- UniSTS:412734

REN87937 (e-PCR)
- UniSTS:412735

REN87938 (e-PCR)
- UniSTS:412736

REN87939 (e-PCR)
- UniSTS:412737

REN87940 (e-PCR)
- UniSTS:412738

REN87941 (e-PCR)
- UniSTS:412739

REN87942 (e-PCR)
- UniSTS:412740

REN87943 (e-PCR)
- UniSTS:412741

REN87944 (e-PCR)
- UniSTS:412742

REN87945 (e-PCR)
- UniSTS:412743

REN87946 (e-PCR)
- UniSTS:412744

ECD03920 (e-PCR)
- UniSTS:285000

REN87947 (e-PCR)
- UniSTS:412745

ECD13701 (e-PCR)
- UniSTS:294729

REN87948 (e-PCR)
- UniSTS:412746

REN87949 (e-PCR)
- UniSTS:412747

REN87950 (e-PCR)
- UniSTS:412748

REN87951 (e-PCR)
- UniSTS:412749

REN87952 (e-PCR)
- UniSTS:412750

REN87953 (e-PCR)
- UniSTS:412751

REN87954 (e-PCR)
- UniSTS:412752

REN87955 (e-PCR)
- UniSTS:412753

REN87956 (e-PCR)
- UniSTS:412754

ECD01087 (e-PCR)
- UniSTS:282194

REN87957 (e-PCR)
- UniSTS:412755

GDB:618098 (e-PCR)
- UniSTS:158291

REN87958 (e-PCR)
- UniSTS:412756

GDB:618230 (e-PCR)
- UniSTS:158292

REN87959 (e-PCR)
- UniSTS:412757

GDB:618289 (e-PCR)
- UniSTS:158293

REN87960 (e-PCR)
- UniSTS:412758

GDB:618293 (e-PCR)
- UniSTS:158294

REN87961 (e-PCR)
- UniSTS:412759

ECD02899 (e-PCR)
- UniSTS:283991

GDB:618341 (e-PCR)
- UniSTS:158295

REN87962 (e-PCR)
- UniSTS:412760

GDB:618400 (e-PCR)
- UniSTS:158296

REN87963 (e-PCR)
- UniSTS:412761

GDB:618484 (e-PCR)
- UniSTS:158297

REN87964 (e-PCR)
- UniSTS:412762

GDB:618487 (e-PCR)
- UniSTS:158298

REN87965 (e-PCR)
- UniSTS:412763

GDB:618831 (e-PCR)
- UniSTS:158299

REN87966 (e-PCR)
- UniSTS:412764

GDB:618836 (e-PCR)
- UniSTS:158300

REN87967 (e-PCR)
- UniSTS:412765

GDB:618839 (e-PCR)
- UniSTS:158301

REN87968 (e-PCR)
- UniSTS:412766

GDB:618842 (e-PCR)
- UniSTS:158302

REN87969 (e-PCR)
- UniSTS:412767

GDB:618846 (e-PCR)
- UniSTS:158303

REN87970 (e-PCR)
- UniSTS:412768

GDB:618849 (e-PCR)
- UniSTS:158304

REN87971 (e-PCR)
- UniSTS:412769

GDB:618851 (e-PCR)
- UniSTS:158305

REN87972 (e-PCR)
- UniSTS:412770

GDB:618866 (e-PCR)
- UniSTS:158306

REN87973 (e-PCR)
- UniSTS:412771

GDB:619117 (e-PCR)
- UniSTS:158307

REN87974 (e-PCR)
- UniSTS:412772

GDB:619157 (e-PCR)
- UniSTS:158308

REN87975 (e-PCR)
- UniSTS:412773

GDB:619161 (e-PCR)
- UniSTS:158309

REN87976 (e-PCR)
- UniSTS:412774

REN87977 (e-PCR)
- UniSTS:412775

GDB:623452 (e-PCR)
- UniSTS:158311

REN87978 (e-PCR)
- UniSTS:412776

GDB:623456 (e-PCR)
- UniSTS:158312

REN87979 (e-PCR)
- UniSTS:412777

GDB:623463 (e-PCR)
- UniSTS:158313

REN87980 (e-PCR)
- UniSTS:412778

GDB:623467 (e-PCR)
- UniSTS:158314

REN87981 (e-PCR)
- UniSTS:412779

GDB:623470 (e-PCR)
- UniSTS:158315

REN87982 (e-PCR)
- UniSTS:412780

GDB:623474 (e-PCR)
- UniSTS:158316

REN87983 (e-PCR)
- UniSTS:412781

GDB:623477 (e-PCR)
- UniSTS:158317

REN87984 (e-PCR)
- UniSTS:412782

REN87985 (e-PCR)
- UniSTS:412783

REN87986 (e-PCR)
- UniSTS:412784

REN87987 (e-PCR)
- UniSTS:412785

REN87988 (e-PCR)
- UniSTS:412786

STS-M74387 (e-PCR)
- UniSTS:16755

REN87989 (e-PCR)
- UniSTS:412787

ECD02153 (e-PCR)
- UniSTS:283254

ECD00106 (e-PCR)
- UniSTS:281220

RH102310 (e-PCR)
- UniSTS:96644

stSG603649 (e-PCR)
- UniSTS:447142

ECD01185 (e-PCR)
- UniSTS:282292

RH80837 (e-PCR)
- UniSTS:84935

ECD01496 (e-PCR)
- UniSTS:282599

ECD02284 (e-PCR)
- UniSTS:283384

ECD00224 (e-PCR)
- UniSTS:281338

Genotypes

See L1CAM SNP Geneview Report
See L1CAM SNP Genotype Report
See L1CAM SNP Variation Viewer Report

Potential readthrough

Included gene: ARHGAP4

Homology

Map Viewer (Mouse, Rat)

Pathways from BioSystems

Axon guidance, organism-specific biosystem (from KEGG)
Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
Axon guidance, conserved biosystem (from KEGG)
Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
Axon guidance, organism-specific biosystem (from REACTOME)
Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
Basigin interactions, organism-specific biosystem (from REACTOME)
Basigin interactions, organism-specific biosystemBasigin is a widely expressed transmembrane glycoprotein that belongs to the Ig superfamily and is highly enriched on the surface of epithelial cells. Basigin is involved in intercellular interaction...
Cell adhesion molecules (CAMs), organism-specific biosystem (from KEGG)
Cell adhesion molecules (CAMs), organism-specific biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
Cell adhesion molecules (CAMs), conserved biosystem (from KEGG)
Cell adhesion molecules (CAMs), conserved biosystemCell adhesion molecules are (glyco)proteins expressed on the cell surface and play a critical role in a wide array of biologic processes that include hemostasis, the immune response, inflammation, em...
Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
Developmental Biology, organism-specific biosystem (from REACTOME)
Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
Hemostasis, organism-specific biosystem (from REACTOME)
Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
Interaction between L1 and Ankyrins, organism-specific biosystem (from REACTOME)
Interaction between L1 and Ankyrins, organism-specific biosystemAnkyrins are a family of adaptor proteins that couple membrane proteins such as voltage gated Na+ channels and the Na+/K+ anion exchanger to the spectrin actin cytoskeleton. Ankyrins are encoded by t...
L1CAM interactions, organism-specific biosystem (from REACTOME)
L1CAM interactions, organism-specific biosystemThe L1 family of cell adhesion molecules (L1CAMs) are a subfamily of the immunoglobulin superfamily of transmembrane receptors, comprised of four structurally related proteins: L1, Close Homolog of L...
Recycling pathway of L1, organism-specific biosystem (from REACTOME)
Recycling pathway of L1, organism-specific biosystemL1 functions in many aspects of neuronal development including axon outgrowth and neuronal migration. These functions require coordination between L1 and the actin cytoskeleton. F-actin continuously ...
Signal transduction by L1, organism-specific biosystem (from REACTOME)
Signal transduction by L1, organism-specific biosystemBesides adhesive roles in cell cell interaction, L1 functions as a signal transducing receptor providing neurons with cues from their environment for axonal growth and guidance. L1 associates with be...

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
PDZ domain binding	IEA Inferred from Electronic Annotation more info
identical protein binding	IEA Inferred from Electronic Annotation more info
integrin binding	IEA Inferred from Electronic Annotation more info
protein self-association	IEA Inferred from Electronic Annotation more info
sialic acid binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
axon guidance	TAS Traceable Author Statement more info
blood coagulation	TAS Traceable Author Statement more info
cell adhesion	IEA Inferred from Electronic Annotation more info
cell death	IEA Inferred from Electronic Annotation more info
cell differentiation	IEA Inferred from Electronic Annotation more info
cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
cell-cell adhesion mediated by integrin	IEA Inferred from Electronic Annotation more info
chemotaxis	TAS Traceable Author Statement more info	PubMed
heterophilic cell-cell adhesion	IEA Inferred from Electronic Annotation more info
homophilic cell adhesion	IEA Inferred from Electronic Annotation more info
homotypic cell-cell adhesion	IEA Inferred from Electronic Annotation more info
leukocyte cell-cell adhesion	IEA Inferred from Electronic Annotation more info
leukocyte migration	TAS Traceable Author Statement more info
multicellular organismal development	IEA Inferred from Electronic Annotation more info
nervous system development	IEA Inferred from Electronic Annotation more info
neuron projection development	IEA Inferred from Electronic Annotation more info
positive regulation of calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
positive regulation of cell-cell adhesion	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
external side of plasma membrane	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
membrane fraction	IEA Inferred from Electronic Annotation more info
plasma membrane	TAS Traceable Author Statement more info
presynaptic membrane	IEA Inferred from Electronic Annotation more info
terminal button	IEA Inferred from Electronic Annotation more info

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General protein information

Preferred Names: neural cell adhesion molecule L1

Names: neural cell adhesion molecule L1; antigen identified by monoclonal antibody R1

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_009645.2 RefSeqGene

Range

38279..52707

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000425.3 → NP_000416.1 neural cell adhesion molecule L1 isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) includes a neuron-specific exon in the 3' region and encodes the full-length isoform (1).

Source sequence(s)

BC025843, BC126229

Consensus CDS

CCDS14733.1

UniProtKB/Swiss-Prot

P32004

Related

ENSP00000359074, ENST00000370057

Conserved Domains (10) summary

cd00063
Location:612 – 708
Blast Score: 168

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd00096
Location:535 – 605
Blast Score: 130

Ig; Immunoglobulin domain

cd05733
Location:53 – 130
Blast Score: 318

Ig6_L1-CAM_like; Sixth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins

cd05845
Location:153 – 228
Blast Score: 407

Ig2_L1-CAM_like; Second immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins

cd05867
Location:347 – 422
Blast Score: 379

Ig4_L1-CAM_like; Fourth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)

cd05876
Location:260 – 330
Blast Score: 352

Ig3_L1-CAM; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)

pfam07679
Location:250 – 329
Blast Score: 167

I-set; Immunoglobulin I-set domain

pfam13882
Location:1116 – 1235
Blast Score: 450

Bravo_FIGEY; C-terminal domain of Fibronectin type III

cl00065
Location:1021 – 1109
Blast Score: 84

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl11960
Location:441 – 514
Blast Score: 131

Ig; Immunoglobulin domain
NM_001143963.1 → NP_001137435.1 neural cell adhesion molecule L1 isoform 3 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an internal exon in the 5' region and a neuron-specific exon in the 3' region, as compared to variant 1. The resulting isoform (3) is shorter, and lacks an internal segment in the N-terminus and is missing a tyrosine-based sorting motif in the C-terminus.

Source sequence(s)

BC025843, BC126229, EF506611

Consensus CDS

CCDS48192.1

UniProtKB/TrEMBL

A4ZYW4

UniProtKB/TrEMBL

G3XAF4

UniProtKB/Swiss-Prot

P32004

Related

ENSP00000354712, ENST00000361981

Conserved Domains (10) summary

cd00063
Location:607 – 703
Blast Score: 168

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd00096
Location:530 – 600
Blast Score: 130

Ig; Immunoglobulin domain

cd05733
Location:48 – 125
Blast Score: 318

Ig6_L1-CAM_like; Sixth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins

cd05845
Location:148 – 223
Blast Score: 407

Ig2_L1-CAM_like; Second immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins

cd05867
Location:342 – 417
Blast Score: 379

Ig4_L1-CAM_like; Fourth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)

cd05876
Location:255 – 325
Blast Score: 352

Ig3_L1-CAM; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)

pfam07679
Location:245 – 324
Blast Score: 167

I-set; Immunoglobulin I-set domain

pfam13882
Location:1111 – 1226
Blast Score: 435

Bravo_FIGEY; C-terminal domain of Fibronectin type III

cl00065
Location:1016 – 1104
Blast Score: 84

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl11960
Location:436 – 509
Blast Score: 131

Ig; Immunoglobulin domain
NM_024003.2 → NP_076493.1 neural cell adhesion molecule L1 isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks a neuron-specific exon in the 3' region, as compared to variant 1. The resulting isoform (2) is shorter and is missing a tyrosine-based sorting motif.

Source sequence(s)

BC025843, BC126229, M74387

Consensus CDS

CCDS14734.1

UniProtKB/Swiss-Prot

P32004

Related

ENSP00000355380, OTTHUMP00000025993, ENST00000361699, OTTHUMT00000061095

Conserved Domains (10) summary

cd00063
Location:612 – 708
Blast Score: 168

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cd00096
Location:535 – 605
Blast Score: 130

Ig; Immunoglobulin domain

cd05733
Location:53 – 130
Blast Score: 318

Ig6_L1-CAM_like; Sixth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins

cd05845
Location:153 – 228
Blast Score: 407

Ig2_L1-CAM_like; Second immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins

cd05867
Location:347 – 422
Blast Score: 379

Ig4_L1-CAM_like; Fourth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)

cd05876
Location:260 – 330
Blast Score: 352

Ig3_L1-CAM; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)

pfam07679
Location:250 – 329
Blast Score: 167

I-set; Immunoglobulin I-set domain

pfam13882
Location:1116 – 1231
Blast Score: 435

Bravo_FIGEY; C-terminal domain of Fibronectin type III

cl00065
Location:1021 – 1109
Blast Score: 84

FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...

cl11960
Location:441 – 514
Blast Score: 131

Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000023.10 Reference GRCh37.p5 Primary Assembly

Range

153126971..153141399, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000155.1 Alternate HuRef

Range

141783487..141797977, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Help top of page

Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AB101921.1	BAC80480.1
genomic	AB101922.1	BAC80481.1
genomic	AB101923.1	BAC80482.1
genomic	AB101924.1	BAC80483.1
genomic	AB101925.1	BAC80484.1
genomic	AB101926.1	BAC80485.1
genomic	AB101927.1	BAC80486.1
genomic	AB101928.1	BAC80487.1
genomic	AB101929.1	BAC80488.1
genomic	AB101930.1	BAC80489.1
genomic	AB101931.1	BAC80490.1
genomic	AB101932.1	BAC80491.1
genomic	AB101933.1	BAC80492.1
genomic	AB101934.1	BAC80493.1
genomic	AB101935.1	BAC80494.1
genomic	AB101936.1	BAC80495.1
genomic	AB101937.1	BAC80496.1
genomic	AB101938.1	BAC80497.1
genomic	AB101939.1	BAC80498.1
genomic	AB101940.1	BAC80499.1
genomic	AB101951.1	BAC80510.1
genomic	AB101952.1	BAC80511.1
genomic	AB101953.1	BAC80512.1
genomic	AB101954.1	BAC80513.1
genomic	AB101955.1	BAC80514.1
genomic	AB101956.1	BAC80515.1
genomic	AB101957.1	BAC80516.1
genomic	AB101958.1	BAC80517.1
genomic	AB101959.1	BAC80518.1
genomic	AB101960.1	BAC80519.1
genomic	AB101961.1	BAC80520.1
genomic	AB101962.1	BAC80521.1
genomic	AB101963.1	BAC80522.1
genomic	AB101964.1	BAC80523.1
genomic	AB101965.1	BAC80524.1
genomic	AB101966.1	BAC80525.1
genomic	AB101967.1	BAC80526.1
genomic	AB101968.1	BAC80527.1
genomic	AB101969.1	BAC80528.1
genomic	AB101970.1	BAC80529.1
genomic	AB101981.1	BAC80540.1
genomic	AB101982.1	BAC80541.1
genomic	AB101983.1	BAC80542.1
genomic	AB101984.1	BAC80543.1
genomic	AB101985.1	BAC80544.1
genomic	AB101986.1	BAC80545.1
genomic	AB101987.1	BAC80546.1
genomic	AB101988.1	BAC80547.1
genomic	AB101989.1	BAC80548.1
genomic	AB101990.1	BAC80549.1
genomic	AB101991.1	BAC80550.1
genomic	AB101992.1	BAC80551.1
genomic	AB101993.1	BAC80552.1
genomic	AB101994.1	BAC80553.1
genomic	AB101995.1	BAC80554.1
genomic	AB101996.1	BAC80555.1
genomic	AB101997.1	BAC80556.1
genomic	AB101998.1	BAC80557.1
genomic	AB101999.1	BAC80558.1
genomic	AB102000.1	BAC80559.1
genomic	AB102011.1	BAC80570.1
genomic	AB102012.1	BAC80571.1
genomic	AB102013.1	BAC80572.1
genomic	AB102014.1	BAC80573.1
genomic	AB102015.1	BAC80574.1
genomic	AB102016.1	BAC80575.1
genomic	AB102017.1	BAC80576.1
genomic	AB102018.1	BAC80577.1
genomic	AB102019.1	BAC80578.1
genomic	AB102020.1	BAC80579.1
genomic	AB102021.1	BAC80580.1
genomic	AB102022.1	BAC80581.1
genomic	AB102023.1	BAC80582.1
genomic	AB102024.1	BAC80583.1
genomic	AB102025.1	BAC80584.1
genomic	AB102026.1	BAC80585.1
genomic	AB102027.1	BAC80586.1
genomic	AB102028.1	BAC80587.1
genomic	AB102029.1	BAC80588.1
genomic	AB102030.1	BAC80589.1
genomic	AB102041.1	BAC80600.1
genomic	AB102042.1	BAC80601.1
genomic	AB102043.1	BAC80602.1
genomic	AB102044.1	BAC80603.1
genomic	AB102045.1	BAC80604.1
genomic	AB102046.1	BAC80605.1
genomic	AB102047.1	BAC80606.1
genomic	AB102048.1	BAC80607.1
genomic	AB102049.1	BAC80608.1
genomic	AB102050.1	BAC80609.1
genomic	AB102051.1	BAC80610.1
genomic	AB102052.1	BAC80611.1
genomic	AB102053.1	BAC80612.1
genomic	AB102054.1	BAC80613.1
genomic	AB102055.1	BAC80614.1
genomic	AB102056.1	BAC80615.1
genomic	AB102057.1	BAC80616.1
genomic	AB102058.1	BAC80617.1
genomic	AB102059.1	BAC80618.1
genomic	AB102060.1	BAC80619.1
genomic	AB102071.1	BAC80630.1
genomic	AB102072.1	BAC80631.1
genomic	AB102073.1	BAC80632.1
genomic	AB102074.1	BAC80633.1
genomic	AB102075.1	BAC80634.1
genomic	AB102076.1	BAC80635.1
genomic	AB102077.1	BAC80636.1
genomic	AB102078.1	BAC80637.1
genomic	AB102079.1	BAC80638.1
genomic	AB102080.1	BAC80639.1
genomic	AB102081.1	BAC80640.1
genomic	AB102082.1	BAC80641.1
genomic	AB102083.1	BAC80642.1
genomic	AB102084.1	BAC80643.1
genomic	AB102085.1	BAC80644.1
genomic	AB102086.1	BAC80645.1
genomic	AB102087.1	BAC80646.1
genomic	AB102088.1	BAC80647.1
genomic	AB102089.1	BAC80648.1
genomic	AB102090.1	BAC80649.1
genomic	AB102101.1	BAC80660.1
genomic	AB102102.1	BAC80661.1
genomic	AB102103.1	BAC80662.1
genomic	AB102104.1	BAC80663.1
genomic	AB102105.1	BAC80664.1
genomic	AB102106.1	BAC80665.1
genomic	AB102107.1	BAC80666.1
genomic	AB102108.1	BAC80667.1
genomic	AB102109.1	BAC80668.1
genomic	AB102110.1	BAC80669.1
genomic	AB102111.1	BAC80670.1
genomic	AB102112.1	BAC80671.1
genomic	AB102113.1	BAC80672.1
genomic	AB102114.1	BAC80673.1
genomic	AB102115.1	BAC80674.1
genomic	AB102116.1	BAC80675.1
genomic	AB102117.1	BAC80676.1
genomic	AB102118.1	BAC80677.1
genomic	AB102119.1	BAC80678.1
genomic	AB102120.1	BAC80679.1
genomic	AY167680.1	AAO17583.1
genomic	AY167681.1	AAO17584.1
genomic	AY167682.1	AAO17585.1
genomic	AY167683.1	AAO17586.1
genomic	AY167684.1	AAO17587.1
genomic	AY167685.1	AAO17588.1
genomic	AY167686.1	AAO17589.1
genomic	AY167687.1	AAO17590.1
genomic	AY167688.1	AAO17591.1
genomic	AY167689.1	AAO17592.1
genomic	AY167690.1	AAO17593.1
genomic	AY167691.1	AAO17594.1
genomic	AY167692.1	AAO17595.1
genomic	AY167693.1	AAO17596.1
genomic	AY167694.1	AAO17597.1
genomic	AY167695.1	AAO17598.1
genomic	AY167696.1	AAO17599.1
genomic	AY167697.1	AAO17600.1
genomic	AY167698.1	AAO17601.1
genomic	AY167699.1	AAO17602.1
genomic	AY167700.1	AAO17603.1
genomic	AY167701.1	AAO17604.1
genomic	AY167702.1	AAO17605.1
genomic	AY167703.1	AAO17606.1
genomic	AY167704.1	AAO17607.1
genomic	AY167705.1	AAO17608.1
genomic	AY167706.1	AAO17609.1
genomic	AY167707.1	AAO17610.1
genomic	AY167708.1	AAO17611.1
genomic	AY167709.1	AAO17612.1
genomic	AY167710.1	AAO17613.1
genomic	AY167711.1	AAO17614.1
genomic	AY167712.1	AAO17615.1
genomic	AY167713.1	AAO17616.1
genomic	AY167714.1	AAO17617.1
genomic	AY167715.1	AAO17618.1
genomic	AY167716.1	AAO17619.1
genomic	AY167717.1	AAO17620.1
genomic	AY167718.1	AAO17621.1
genomic	AY167719.1	AAO17622.1
genomic	AY167720.1	AAO17623.1
genomic	AY167721.1	AAO17624.1
genomic	AY167722.1	AAO17625.1
genomic	AY167723.1	AAO17626.1
genomic	AY167724.1	AAO17627.1
genomic	AY167725.1	AAO17628.1
genomic	AY167726.1	AAO17629.1
genomic	CH471172.2	EAW72787.1
		EAW72788.1
		EAW72789.1
genomic	DQ173589.1	ABB58724.1
genomic	DQ173592.1	ABC25730.1
genomic	DQ173593.1	ABC25735.1
genomic	DQ173594.1	ABC25740.1
genomic	DQ173595.1	ABC25745.1
genomic	DQ173596.1	ABC25750.1
genomic	DQ173597.1	ABC25755.1
genomic	DQ173598.1	ABC25759.1
genomic	DQ173599.1	ABC25764.1
genomic	DQ173600.1	ABC25769.1
genomic	DQ173601.1	ABC25774.1
genomic	DQ173602.1	ABC25779.1
genomic	DQ173603.1	ABC25784.1
genomic	DQ173604.1	ABC25789.1
genomic	DQ173605.1	ABC25794.1
genomic	DQ173606.1	ABC25799.1
genomic	DQ173607.1	ABC25804.1
genomic	DQ173608.1	ABC25809.1
genomic	DQ173609.1	ABC25814.1
genomic	DQ173610.1	ABC25819.1
genomic	DQ173611.1	ABC25824.1
genomic	DQ173612.1	ABC25829.1
genomic	DQ173613.1	ABC25834.1
genomic	DQ173614.1	ABC25839.1
genomic	DQ173615.1	ABC25844.1
genomic	DQ173616.1	ABC25849.1
genomic	DQ173617.1	ABC25854.1
genomic	DQ173618.1	ABC25859.1
genomic	DQ173619.1	ABC25864.1
genomic	DQ173620.1	ABC25869.1
genomic	DQ173621.1	ABC25874.1
genomic	DQ173622.1	ABC25879.1
genomic	DQ173623.1	ABC25884.1
genomic	DQ173624.1	ABC25889.1
genomic	DQ173625.1	ABC25894.1
genomic	DQ173626.1	ABC25899.1
genomic	DQ173627.1	ABC25904.1
genomic	DQ173628.1	ABC25909.1
genomic	DQ173629.1	ABC25914.1
genomic	DQ173630.1	ABC25919.1
genomic	DQ173631.1	ABC25924.1
genomic	DQ173632.1	ABC25929.1
genomic	DQ173633.1	ABC25934.1
genomic	DQ173634.1	ABC25939.1
genomic	DQ173635.1	ABC25944.1
genomic	DQ173636.1	ABC25949.1
genomic	DQ173637.1	ABC25954.1
genomic	DQ173638.1	ABC25959.1
genomic	DQ173639.1	ABC25964.1
genomic	DQ173640.1	ABC25969.1
genomic	DQ173641.1	ABC25974.1
genomic	DQ173642.1	ABC25979.1
genomic	X58775.1	CAA41576.1
genomic	X67912.1	None
genomic	Z29373.1	CAA82564.1
mRNA	AB102653.1	BAC81122.1
mRNA	AK289754.1	BAF82443.1
mRNA	AY927629.1	None
mRNA	BC025843.1	AAH25843.1
mRNA	BC126229.1	AAI26230.1
mRNA	BC136447.1	AAI36448.1
mRNA	EF506611.1	ABP88252.1
mRNA	M55271.1	AAA36353.1
mRNA	M74387.1	AAA59476.1
mRNA	M77640.1	AAC14352.1
mRNA	X58776.1	CAB37831.1
mRNA	X59847.1	CAA42508.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
P32004.2	GenPept	UniProtKB/Swiss-Prot:P32004
Q7Z2F9	GenPept	UniProtKB/TrEMBL:Q7Z2F9
Q7Z2H2	GenPept	UniProtKB/TrEMBL:Q7Z2H2
Q7Z2I3	GenPept	UniProtKB/TrEMBL:Q7Z2I3
Q7Z2J0	GenPept	UniProtKB/TrEMBL:Q7Z2J0
Q7Z2J6	GenPept	UniProtKB/TrEMBL:Q7Z2J6
Q7Z2J8	GenPept	UniProtKB/TrEMBL:Q7Z2J8
Q7Z2J9	GenPept	UniProtKB/TrEMBL:Q7Z2J9
Q7Z3Z9	GenPept	UniProtKB/TrEMBL:Q7Z3Z9
Q86SE4	GenPept	UniProtKB/TrEMBL:Q86SE4