L1CAM - L1 cell adhesion molecule Gene

Also Known as S10; HSAS; MASA; MIC5; SPG1; CAML1; CD171; HSAS1; N-CAML1; NCAM-L1; N-CAM-L1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 3897

About L1CAM

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,861,514-153,886,173 (from NCBI)

This gene has 16 transcripts (splice variants), 243 orthologues, 36 paralogues and is associated with 8 phenotypes. Biased expression in brain (RPKM 23.7), adrenal (RPKM 13.5) and 9 other tissues.

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]

L1CAM Products (4)

mRNA	Protein	Name
NM_000425.5	NP_000416.1	neural cell adhesion molecule L1 isoform 1 precursor
NM_001143963.2	NP_001137435.1	neural cell adhesion molecule L1 isoform 3 precursor
NM_001278116.2	NP_001265045.1	neural cell adhesion molecule L1 isoform 1 precursor
NM_024003.3	NP_076493.1	neural cell adhesion molecule L1 isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	18321067	GOA
enables protein domain specific binding	IDA IDA: Inferred from direct assay	18321067	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in axon development	IDA IDA: Inferred from direct assay	20621658	GOA
involved in axon guidance	IDA IDA: Inferred from direct assay	24155914	GOA
involved in cell migration	IDA IDA: Inferred from direct assay	22973895	GOA
involved in cell-matrix adhesion	IDA IDA: Inferred from direct assay	22973895	GOA
involved in neuron projection development	IDA IDA: Inferred from direct assay	22973895	GOA
involved in synapse organization	IDA IDA: Inferred from direct assay	24155914	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in axon	IDA IDA: Inferred from direct assay	20621658	GOA
located in cell surface	IDA IDA: Inferred from direct assay	22973895	GOA
located in neuronal cell body	IDA IDA: Inferred from direct assay	20621658	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	20621658	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

L1CAM Protein Structure

Ig_2

I-set

fn3

Bravo_FIGEY

0
200
400
600
800
1000
1200
1257 a.a.

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

Recombinant L1CAM Proteins

Cat. No.	Product Name	Accession	Purity
HY-P74791	L1CAM Protein, Human (HEK293, His, solution)	P32004-1 (I20-E1120)	≥ 90%, as determined by reducing SDS-PAGE.
HY-P700417	L1CAM Protein, Human (HEK293, C-His)	P32004-1 (I20-E1120)	≥ 95%, as determined by reducing SDS-PAGE.

L1CAM Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81625	L1CAM Antibody (YA1370)	FC, ELISA	Human
HY-P83404	L1CAM Antibody (YA3149)	WB, IHC-P	Human
HY-P83404A	L1CAM Antibody (YA3149)(PBS only)	WB, IHC-P	Human
HY-P85443	L1CAM Antibody (YA5135)	WB, FC	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Masa Syndrome	L1 Syndrome Crash Syndrome X-Linked Hydrocephalus Syndrome SPG1 Gareis-Mason Syndrome Spastic Paraplegia 1, X-Linked Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome L1cam Syndrome Spastic Paraplegia 1 Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs Clasped Thumb And Mental Retardation Thumb, Congenital Clasped, With Mental Retardation Adducted Thumb With Mental Retardation Hereditary Spastic Paraplegia 1 X-Linked Complicated Hereditary Spastic Paraplegia Type 1 X-Linked Corpus Callosum Agenesis X-Linked Spastic Paraplegia 1 L1 Disease X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis Adducted Thumb With Intellectual Disability Clasped Thumb And Intellectual Disability Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs Thumb Congenital Clasped With Intellectual Disability X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome Adducted Thumbs-Mental Retardation Syndrome Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome Mental Retardation-Clasped Thumb Syndrome Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome Spastic Paraplegia Type 1, X-Linked MASA Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus Crash Masa Syndrome
Corpus Callosum, Partial Agenesis Of, X-Linked	X-Linked Complicated Corpus Callosum Dysgenesis Corpus Callosum, Partial Agenesis Of Partial Agenesis Of The Corpus Callosum Partial Agenesis Of Corpus Callosum Agenesis Of The Corpus Callosum, X-Linked, Partial ACCPX Agenesis, Corpus Callosum, Partial
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	X-Linked Hydrocephalus Bickers-Adams Syndrome Hsas X-Linked Hsas X-Linked Acqueductal Stenosis X-Linked Hydrocephalus With Stenosis Of Aqueduct Of Sylvius X-Linked Hydrocephalus Syndrome Anomaly Of Aqueduct Of Sylvius Bicker-Adams Syndrome Stenosis Of The Aqueduct Of Sylvius Atresia Of The Aqueduct Of Sylvius Aqueduct Of Sylvius Stricture Congenital Aqueduct Of Sylvius Occlusion Congenital Obstruction Of Aqueduct Of Sylvius Congenital Stenosis Of Aqueduct Of Sylvius Hydrocephalus With Aqueduct Of Sylvius Stricture Aqueduct Of Sylvius Septum Deformity Of Aqueduct Of Sylvius
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius	Aqueductal Stenosis Aqueductal Stenosis, X-Linked Hsas Hsas1 Hycx Hydrocephalus, X-Linked Xlas X-Linked Hydrocephalus Syndrome
X-Linked Complicated Spastic Paraplegia Type 1	Spg1 Masa Syndrome
Hydrops Fetalis, Nonimmune	Hydrops Fetalis Non-Immune Hydrops Fetalis NIHF Familial Non-Immune Hydrops Fetalis Hydrops Fetalis Nonimmune Idiopathic Hydrops Fetalis Hb Bart'S Hydrops Fetalis Alpha-Thalassemia Hydrops Fetalis Alpha-Thalassemia Major Hemoglobin Bart'S Hydrops Fetalis Homozygous Alpha0-Thalassemia Fetal Anasarca Fetal Hydrops Generalized Fetal Edema Hf Non-Immune Hf Non-Immune Fetal Edema Non-Immune Fetal Hydrops Hydrops Fetalis, Non-Immune Hemoglobin Bart'S Hydrops Syndrome
Aphasia
Hydrocephalus	Hydrocephalus, Nonsyndromic, Autosomal Recessive Hydrocephalus, X-Linked Hydrocephalus Adverse Event Hydrocephaly Nos
Nephrogenic Diabetes Insipidus	Vasopressin-Resistant Diabetes Insipidus Diabetes Insipidus, Nephrogenic Diabetes Insipidus Nephrogenic Congenital Nephrogenic Diabetes Insipidus Adh Resistant Diabetes Insipidus Diabetes Insipidus Nephrogenic X-Linked Diabetes Insipidus Nephrogenic Type 1 Adh-Resistant Diabetes Insipidus Diabetes Insipidus Renalis Ndi Renal Diabetes Insipidus Familial Nephrogenic Diabetes Antidiuretic-Hormone-Resistant Diabetes Insipidus Adiuretin-Resistant Diabetes Insipidus Ndi - [Nephrogenic Diabetes Insipidus] Diabetes Tenuifluus Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus Hereditary Nephrogenic Diabetes Insipidus Familial Nephrogenic Diabetes Insipidus Primary Nephrogenic Diabetes Insipidus
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Congenital Hydrocephalus	Hydrocephalus Hydrocephalus Adverse Event Hydrocephalus, Nonsyndromic, Autosomal Recessive 1 Hydrocephalus In Newborn Congenital Hydrocephaly
Spastic Diplegia	Diplegic Infantile Cerebral Palsy Little'S Disease Cerebral Palsy Cerebral Spastic Infantile Paralysis Infantile Diplegic Cerebral Palsy Infantile Spastic Cerebral Palsy Littles Disease Spastic Cerebral Palsy
Intestinal Pseudo-Obstruction	Chronic Intestinal Pseudoobstruction Chronic Intestinal Pseudo-Obstruction Cipo Neuronal Intestinal Dysplasia Hollow Visceral Myopathy Familial Visceral Neuropathy Paralytic Ileus Intestinal Pseudoobstruction Chronic Idiopathic Intestinal Pseudo-Obstruction Ciip Congenital Short Bowel Syndrome Enteric Neuropathy Familial Visceral Myopathy Ipo Pseudo-Obstruction Of Intestine Pseudointestinal Obstruction Syndrome Pseudoobstructive Syndrome Congenital Idiopathic Intestinal Pseudoobstruction Visceral Myopathy, Familial
Adrenoleukodystrophy	X-Linked Adrenoleukodystrophy ALD Siemerling-Creutzfeldt Disease X-Ald X-Linked Cerebral Adrenoleukodystrophy Bronze Schilder Disease Melanodermic Leukodystrophy Addison Disease And Cerebral Sclerosis Adrenomyeloneuropathy, Adult Diffuse Sclerosis X-Cald Adrenomyeloneuropathy Encephalitis Periaxialis Concentrica Encephalitis Periaxialis, Schilder'S Sudanophilic Cerebral Sclerosis Ald Childhood Cerebral Form Adrenoleukodystrophy X-Linked Cerebral Form Adrenoleukodystrophy Childhood Cerebral Form Childhood Cerebral Ald Schilder Disease X-Linked Ald Adrenoleukodystrophy, X-Linked Amn Diffuse Cerebral Sclerosis Of Schilder Systemic Scleroderma Balo'S Concentric Sclerosis Ald - [Adrenoleukodystrophy] Addison-Schilder
Rela Fusion-Positive Ependymoma	Supratentorial C11orf95-Rela Fused Ependymoma C11orf95 Fusion-Positive Supratentorial Ependymoma
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	ACOGS
Supratentorial Ependymoma
Seckel Syndrome 1	SCKL1 Nanocephalic Dwarfism Microcephalic Primordial Dwarfism I Seckel-Type Dwarfism Bird-Headed Dwarfism Sckl Seckel Syndrome, Type 1 Seckel Syndrome
Fetal Alcohol Spectrum Disorder	Fetal Alcohol Spectrum Disorders Fetal Alcohol Syndrome
Fetal Alcohol Syndrome	Fetal Alcohol Spectrum Disorders Arbd Arnd Alcohol-Related Birth Defects Alcohol-Related Neurodevelopmental Disorder Fas Fasd Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta Or Breast Milk Alcohol Related Birth Defect Alcohol Related Neurodevelopmental Disorder Alcohol Affecting Fetus Or Newborn Via Placenta Or Breast Milk Fetus Or Newborn Affected By Alcohol Transmitted Via Placenta And/Or Breast Milk Dysmorphism Due To Alcohol Fetal Etoh Syndrome
Rett Syndrome	Atypical Rett Syndrome RTT Rett Disorder Rts Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use Rett Syndrome, Preserved Speech Variant Rett Syndrome, Atypical Rett'S Disorder Rett Syndrome Variant Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome Cerebroatrophic Hyperammonemia Rett Like Syndrome Rett'S Syndrome Atypical Rtt Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Rett Syndrome Preserved Speech Variant Rett Syndrome Zappella Variant Rett Syndrome, Zappella Variant
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Neuroblastoma	Nb Neuroblastoma, Susceptibility To Neuroblastomas Central Neuroblastoma
Colorectal Cancer	Colon Cancer Colorectal Carcinoma Colon Carcinoma Colorectal Cancer, Susceptibility To Carcinoma Of Colon CRC Colorectal Cancer With Chromosomal Instability, Somatic Colon Cancer, Somatic Colon Cancer, Susceptibility To Colonic Neoplasms Colorectal Neoplasms Colorectal Cancer, Somatic Colon Cancer, Advanced, Somatic Colonic Carcinoma Colorectal Carcinomas Colon Cancers Colorectal Cancers Cancer, Colorectal, Somatic Cancer, Colon Cancer, Colorectal, Susceptibility To Colorectal Neoplasm Colonic Neoplasm Malignant Tumor Of Colon
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-184514	TPA(bi(Tos))-γ-Glu(PEG23)-Glu-Val-Cit-PAB-PNU-159682		/	Unkown
HY-184522	TPA(bi(Tos))-γ-Glu(PEG23)-Gly-Gly-Gly-C2-NH-PNU-159682		/	Unkown
HY-RS07481	L1CAM Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18070	L1cam Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24545	L1cam Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P992253	Anti-L1-CAM Antibody		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	L1CAM	RGD	RGD:619777
Mus musculus	L1CAM	MGD	MGI:96721
Bos taurus	L1CAM	VGNC	VGNC:30760
Canis familiaris	L1CAM	VGNC	VGNC:42556
Others	L1CAM	NCBI