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L1CAM L1 cell adhesion molecule [ Homo sapiens (human) ]

Gene ID: 3897, updated on 31-Mar-2024

Summary

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Official Symbol
L1CAMprovided by HGNC
Official Full Name
L1 cell adhesion moleculeprovided by HGNC
Primary source
HGNC:HGNC:6470
See related
Ensembl:ENSG00000198910 MIM:308840; AllianceGenome:HGNC:6470
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; HYCX; 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 X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]
Expression
Biased expression in brain (RPKM 23.7), adrenal (RPKM 13.5) and 9 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
Xq28
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (153861514..153886173, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (152135195..152159857, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (153126969..153151627, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene PDZ domain containing 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21072 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chrX:153092379-153092957 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:153099642-153099888 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:153110079-153110947 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chrX:153110948-153111815 Neighboring gene CYCS pseudogene 45 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153128028-153128886 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153128887-153129745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30041 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153147023-153148020 Neighboring gene L1CAM antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153174367-153175060 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153175061-153175753 Neighboring gene arginine vasopressin receptor 2 Neighboring gene Rho GTPase activating protein 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153186395-153186896 Neighboring gene H3K4me1 hESC enhancer GRCh37_chrX:153188877-153189377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 30042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 21073

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. L1-CAM in Mucinous Ovarian Carcinomas and Borderline Tumors: Impact on Tumor Recurrence and Potential Role in Tumor Progression. Wiedenhoefer R, et al. Am J Surg Pathol, 2023 May 1. PMID 36852510
  2. Clinical significance of L1CAM expression and its biological role in the progression of oral squamous cell carcinoma. Kim JH, et al. Oncol Rep, 2023 Apr. PMID 36825596, Free PMC Article
  3. L1CAM is required for early dissemination of fallopian tube carcinoma precursors to the ovary. Doberstein K, et al. Commun Biol, 2022 Dec 12. PMID 36509990, Free PMC Article
  4. Expression of L1 Cell Adhesion Molecule (L1CAM) in extracellular vesicles in the human spinal cord during development. Cau F, et al. Eur Rev Med Pharmacol Sci, 2022 Sep. PMID 36111928
  5. Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports. Gao S, et al. Mol Genet Genomic Med, 2022 Sep. PMID 35791503, Free PMC Article

See all (321) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Reciprocal regulation of forkhead box C1 and L1 cell adhesion molecule contributes to triple-negative breast cancer progression.
    Title: Reciprocal regulation of forkhead box C1 and L1 cell adhesion molecule contributes to triple-negative breast cancer progression.
  2. Cyclic increase in the ADAMTS1-L1CAM-EGFR axis promotes the EMT and cervical lymph node metastasis of oral squamous cell carcinoma.
    Title: Cyclic increase in the ADAMTS1-L1CAM-EGFR axis promotes the EMT and cervical lymph node metastasis of oral squamous cell carcinoma.
  3. VAMP7j: A Splice Variant of Human VAMP7 That Modulates Neurite Outgrowth by Regulating L1CAM Transport to the Plasma Membrane.
    Title: VAMP7j: A Splice Variant of Human VAMP7 That Modulates Neurite Outgrowth by Regulating L1CAM Transport to the Plasma Membrane.
  4. A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus.
    Title: A novel splicing variation in L1CAM is responsible for recurrent fetal hydrocephalus.
  5. L1CAM Is Not a Predictive Factor in Early-stage Squamous-cell Cervical Cancer.
    Title: L1CAM Is Not a Predictive Factor in Early-stage Squamous-cell Cervical Cancer.
  6. An Increase in Mucin2 Expression Is Required for Colon Cancer Progression Mediated by L1.
    Title: An Increase in Mucin2 Expression Is Required for Colon Cancer Progression Mediated by L1.
  7. Clinical significance of L1CAM expression in metastatic tubo-ovarian high-grade serous carcinoma.
    Title: Clinical significance of L1CAM expression in metastatic tubo-ovarian high-grade serous carcinoma.
  8. ZNF133 is a potent suppressor in breast carcinogenesis through dampening L1CAM, a driver for tumor progression.
    Title: ZNF133 is a potent suppressor in breast carcinogenesis through dampening L1CAM, a driver for tumor progression.
  9. Knocking out alpha-synuclein in melanoma cells downregulates L1CAM and decreases motility.
    Title: Knocking out alpha-synuclein in melanoma cells downregulates L1CAM and decreases motility.
  10. Prognostic Value of beta-Catenin and L1CAM Expressions in Type I Endometrial Carcinoma.
    Title: Prognostic Value of β-Catenin and L1CAM Expressions in Type I Endometrial Carcinoma.
Submit: New GeneRIF Correction See all GeneRIFs (214)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-12-02)

ClinGen Genome Curation PagePubMed
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-12-02)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables axon guidance receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein domain specific binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in axon development IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in axon guidance IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell adhesion NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cell migration IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cell-matrix adhesion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in chemotaxis TAS
Traceable Author Statement
more info
 PubMed 
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in nervous system development TAS
Traceable Author Statement
more info
 PubMed 
involved_in neuron projection development IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of axon extension ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in synapse organization IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in synapse organization IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in axon IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in axon IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axonal growth cone ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in cell surface HDA PubMed 
located_in cell surface IDA
Inferred from Direct Assay
more info
 PubMed 
located_in collagen-containing extracellular matrix HDA PubMed 
located_in dendrite IEA
Inferred from Electronic Annotation
more info
  
located_in focal adhesion HDA PubMed 
is_active_in neuronal cell body IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in neuronal cell body IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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

NCBI Reference Sequences (RefSeq)

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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

  1. NG_009645.4 RefSeqGene

    Range
    5001..29658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_14

mRNA and Protein(s)

  1. NM_000425.5 → NP_000416.1  neural cell adhesion molecule L1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_000416.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1, also known as FL-L1CAM) differs in the 5' UTR and represents use of an alternate promoter, compared to variant 4. Variants 1 and 4 encode the same isoform (1).
    Source sequence(s)
    BC025843, BC126229, HY119527
    Consensus CDS
    CCDS14733.1
    UniProtKB/Swiss-Prot
    A0AV65, A4ZYW4, B2RMU7, G3XAF4, P32004, Q8TA87
    UniProtKB/TrEMBL
    A8K139
    Conserved Domains (10) summary
    cd05731
    Location:260 → 330
    Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
    cd05733
    Location:53 → 130
    Ig6_L1-CAM_like; Sixth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins
    cd05867
    Location:347 → 422
    Ig4_L1-CAM_like; Fourth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
    smart00408
    Location:532 → 594
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:249 → 329
    IG_like; Immunoglobulin like
    cd00063
    Location:612 → 709
    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 ...
    pfam07679
    Location:519 → 608
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:824 → 907
    fn3; Fibronectin type III domain
    pfam13882
    Location:1144 → 1233
    Bravo_FIGEY; Bravo-like intracellular region
    cl11960
    Location:134 → 228
    Ig; Immunoglobulin domain

  2. NM_001143963.2 → NP_001137435.1  neural cell adhesion molecule L1 isoform 3 precursor

    See identical proteins and their annotated locations for NP_001137435.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3, also known as SV-L1CAM) lacks two alternate in-frame exons, one in the 5' coding region and the other (neuron-specific exon) in the 3' coding region, compared to variant 4. 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, compared to isoform 1.
    Source sequence(s)
    AI361399, BC025843, BC126229, EF506611
    Consensus CDS
    CCDS48192.1
    UniProtKB/TrEMBL
    A8K139
    Related
    ENSP00000354712.3, ENST00000361981.7
    Conserved Domains (9) summary
    cd05731
    Location:255 → 325
    Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
    cd05733
    Location:48 → 125
    Ig6_L1-CAM_like; Sixth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins
    cd05867
    Location:342 → 417
    Ig4_L1-CAM_like; Fourth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
    smart00408
    Location:527 → 589
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:244 → 324
    IG_like; Immunoglobulin like
    cd00063
    Location:607 → 704
    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 ...
    pfam00041
    Location:819 → 902
    fn3; Fibronectin type III domain
    pfam13882
    Location:1139 → 1224
    Bravo_FIGEY; Bravo-like intracellular region
    cl11960
    Location:129 → 223
    Ig; Immunoglobulin domain

  3. NM_001278116.2 → NP_001265045.1  neural cell adhesion molecule L1 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001265045.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and its 5' UTR structure is inferred based on experimental data in PMID 20799950. Variants 1 and 4 encode the same isoform (1).
    Source sequence(s)
    BC025843, BC126229, DA122729
    Consensus CDS
    CCDS14733.1
    UniProtKB/Swiss-Prot
    A0AV65, A4ZYW4, B2RMU7, G3XAF4, P32004, Q8TA87
    UniProtKB/TrEMBL
    A8K139
    Related
    ENSP00000359077.1, ENST00000370060.7
    Conserved Domains (10) summary
    cd05731
    Location:260 → 330
    Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
    cd05733
    Location:53 → 130
    Ig6_L1-CAM_like; Sixth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins
    cd05867
    Location:347 → 422
    Ig4_L1-CAM_like; Fourth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
    smart00408
    Location:532 → 594
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:249 → 329
    IG_like; Immunoglobulin like
    cd00063
    Location:612 → 709
    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 ...
    pfam07679
    Location:519 → 608
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:824 → 907
    fn3; Fibronectin type III domain
    pfam13882
    Location:1144 → 1233
    Bravo_FIGEY; Bravo-like intracellular region
    cl11960
    Location:134 → 228
    Ig; Immunoglobulin domain

  4. NM_024003.3 → NP_076493.1  neural cell adhesion molecule L1 isoform 2 precursor

    See identical proteins and their annotated locations for NP_076493.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame neuron-specific exon in the 3' coding region, compared to variant 4. The resulting isoform (2) is shorter and lacks an internal segment containing a tyrosine-based sorting motif, compared to isoform 1.
    Source sequence(s)
    AI361399, BC025843, BC126229, M74387
    Consensus CDS
    CCDS14734.1
    UniProtKB/TrEMBL
    A8K139
    Related
    ENSP00000355380.4, ENST00000361699.8
    Conserved Domains (10) summary
    cd05731
    Location:260 → 330
    Ig3_L1-CAM_like; Third immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
    cd05733
    Location:53 → 130
    Ig6_L1-CAM_like; Sixth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM) and similar proteins
    cd05867
    Location:347 → 422
    Ig4_L1-CAM_like; Fourth immunoglobulin (Ig)-like domain of the L1 cell adhesion molecule (CAM)
    smart00408
    Location:532 → 594
    IGc2; Immunoglobulin C-2 Type
    smart00410
    Location:249 → 329
    IG_like; Immunoglobulin like
    cd00063
    Location:612 → 709
    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 ...
    pfam07679
    Location:519 → 608
    I-set; Immunoglobulin I-set domain
    pfam00041
    Location:824 → 907
    fn3; Fibronectin type III domain
    pfam13882
    Location:1144 → 1229
    Bravo_FIGEY; Bravo-like intracellular region
    cl11960
    Location:134 → 228
    Ig; Immunoglobulin domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

    Range
    153861514..153886173 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060947.1 Alternate T2T-CHM13v2.0

    Range
    152135195..152159857 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P32004.2 GenPept UniProtKB/Swiss-Prot:P32004

Gene LinkOut

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