Endometriosis Knowledgebase

Search Result

Gene id

3897

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

L1CAM Gene UCSC Ensembl

Aliases

CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1

Gene name

L1 cell adhesion molecule

Alternate names

neural cell adhesion molecule L1, antigen identified by monoclonal antibody R1,

Gene location

Xq28 (153886173: 153861513) Exons: 29 NC_000023.11

Gene summary(Entrez)

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]

OMIM

308840

Protein Summary

Protein general information

P32004

Name: Neural cell adhesion molecule L1 (N CAM L1) (NCAM L1) (CD antigen CD171)

Length: 1257 Mass: 140,003

Sequence

MVVALRYVWPLLLCSPCLLIQIPEEYEGHHVMEPPVITEQSPRRLVVFPTDDISLKCEASGKPEVQFRWTRDGVH
FKPKEELGVTVYQSPHSGSFTITGNNSNFAQRFQGIYRCFASNKLGTAMSHEIRLMAEGAPKWPKETVKPVEVEE
GESVVLPCNPPPSAEPLRIYWMNSKILHIKQDERVTMGQNGNLYFANVLTSDNHSDYICHAHFPGTRTIIQKEPI
DLRVKATNSMIDRKPRLLFPTNSSSHLVALQGQPLVLECIAEGFPTPTIKWLRPSGPMPADRVTYQNHNKTLQLL
KVGEEDDGEYRCLAENSLGSARHAYYVTVEAAPYWLHKPQSHLYGPGETARLDCQVQGRPQPEVTWRINGIPVEE
LAKDQKYRIQRGALILSNVQPSDTMVTQCEARNRHGLLLANAYIYVVQLPAKILTADNQTYMAVQGSTAYLLCKA
FGAPVPSVQWLDEDGTTVLQDERFFPYANGTLGIRDLQANDTGRYFCLAANDQNNVTIMANLKVKDATQITQGPR
STIEKKGSRVTFTCQASFDPSLQPSITWRGDGRDLQELGDSDKYFIEDGRLVIHSLDYSDQGNYSCVASTELDVV
ESRAQLLVVGSPGPVPRLVLSDLHLLTQSQVRVSWSPAEDHNAPIEKYDIEFEDKEMAPEKWYSLGKVPGNQTST
TLKLSPYVHYTFRVTAINKYGPGEPSPVSETVVTPEAAPEKNPVDVKGEGNETTNMVITWKPLRWMDWNAPQVQY
RVQWRPQGTRGPWQEQIVSDPFLVVSNTSTFVPYEIKVQAVNSQGKGPEPQVTIGYSGEDYPQAIPELEGIEILN
SSAVLVKWRPVDLAQVKGHLRGYNVTYWREGSQRKHSKRHIHKDHVVVPANTTSVILSGLRPYSSYHLEVQAFNG
RGSGPASEFTFSTPEGVPGHPEALHLECQSNTSLLLRWQPPLSHNGVLTGYVLSYHPLDEGGKGQLSFNLRDPEL
RTHNLTDLSPHLRYRFQLQATTKEGPGEAIVREGGTMALSGISDFGNISATAGENYSVVSWVPKEGQCNFRFHIL
FKALGEEKGGASLSPQYVSYNQSSYTQWDLQPDTDYEIHLFKERMFRHQMAVKTNGTGRVRLPPAGFATEGWFIG
FVSAIILLLLVLLILCFIKRSKGGKYSVKDKEDTQVDSEARPMKDETFGEYRSLESDNEEKAFGSSQPSLNGDIK
PLGSDDSLADYGGSVDVQFNEDGSFIGQYSGKKEKEAAGGNDSSGATSPINPAVALE

Structural information

Protein Domains	Ig-like (35-125) Ig-like (139-226) Ig-like (240-328) Ig-like (333-420) Ig-like (425-507) Ig-like (518-607) Fibronectin (615-712)
Motifs	Cell attachment(554-556)
Interpro:	IPR003961 IPR007110 IPR013783 IPR013098 IPR003599 IPR003598 IPR026966
Prosite:	PS50853 PS50835
Pfam:	PF13882 PF00041 PF07679
CDD:	cd00063
MINT:	1369985
STRING:	ENSP00000359074;

Other Databases

GeneCards: L1CAM; Malacards: L1CAM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006935	chemotaxis	TAS	biological_process
GO:0007155	cell adhesion	IEA	biological_process
GO:0007399	nervous system developmen t	TAS	biological_process
GO:0007411	axon guidance	TAS	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0044295	axonal growth cone	ISS	cellular_component
GO:0045773	positive regulation of ax on extension	ISS	biological_process
GO:0050900	leukocyte migration	TAS	biological_process
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	IEA	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006935	chemotaxis	TAS	biological_process
GO:0007155	cell adhesion	IEA	biological_process
GO:0007155	cell adhesion	NAS	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0007399	nervous system developmen t	IEA	biological_process
GO:0007399	nervous system developmen t	TAS	biological_process
GO:0007411	axon guidance	TAS	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0016020	membrane	IEA	cellular_component
GO:0016021	integral component of mem brane	IEA	cellular_component
GO:0030154	cell differentiation	IEA	biological_process
GO:0030426	growth cone	IEA	cellular_component
GO:0042995	cell projection	IEA	cellular_component
GO:0044295	axonal growth cone	ISS	cellular_component
GO:0045773	positive regulation of ax on extension	ISS	biological_process
GO:0050900	leukocyte migration	TAS	biological_process
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005886	plasma membrane	TAS	cellular_component
GO:0005925	focal adhesion	IDA	cellular_component
GO:0006935	chemotaxis	TAS	biological_process
GO:0007155	cell adhesion	NAS	biological_process
GO:0007399	nervous system developmen t	TAS	biological_process
GO:0007411	axon guidance	TAS	biological_process
GO:0009986	cell surface	IDA	cellular_component
GO:0044295	axonal growth cone	ISS	cellular_component
GO:0045773	positive regulation of ax on extension	ISS	biological_process
GO:0050900	leukocyte migration	TAS	biological_process

KEGG pathways

hsa04514 Cell adhesion molecules
hsa04360 Axon guidance

Diseases

Associated diseases	References
Alzheimer's disease	PMID: 16650578
Cancer	PMID: 19661372
Congenital hydrocephalus	KEGG: H01677
CRASH syndrome	OMIM: 308840
Endometriosis	PMID: 18332088
Hereditary spastic paraplegia	KEGG: H00266
Hydrocephalus	OMIM: 308840
L1 syndrome	KEGG: H01034
Multiple sclerosis	PMID: 17420921
Endometriosis	INFBASE18332088
Psychiatric disorders	PMID: 19086053
Schizophrenia	PMID: 11425011
Sleep disorders	PMID: 11393533
Syndromic X-linked mental retardation with epilepsy or seizures	KEGG: H00577

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
18332088	Endometrio sis			116 (79 patient s with endometr iosis, 37 pati ents without en dometriosis)		L1CAM	Show abstract