• Gene id: 3897

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 (153886172: 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 se
• OMIM: 613727

Protein Summary

• Protein general information: P32004  
  • Name: Neural cell adhesion molecule L1 (N CAM L1) (NCAM L1) (CD antigen CD171)
  • Length: 1257  
  • Mass: 140003
• Sequence:

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

• Structural information:
  • Protein Domains: (35..12-)
    1 (/note="Ig-like-C2-type)
    (139..22-)
    2 (/note="Ig-like-C2-type)
    (240..32-)
    3 (/note="Ig-like-C2-type)
    (333..42-)
    4 (/note="Ig-like-C2-type)
    (425..50-)
    5 (/note="Ig-like-C2-type)
    (518..60-)
    (/note="Ig-lik-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  IPR026966  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • STRING: ENSP00000359077
• Other Databases: GeneCards:  L1CAM  Malacards:  L1CAM

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050808	synapse organization	IBA	biological process
GO:0030424	axon	IBA	cellular component
GO:0043025	neuronal cell body	IBA	cellular component
GO:0008046	axon guidance receptor activity	IBA	molecular function
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0016477	cell migration	IDA	biological process
GO:0007160	cell-matrix adhesion	IDA	biological process
GO:0031175	neuron projection development	IDA	biological process
GO:0050808	synapse organization	IDA	biological process
GO:0030424	axon	IDA	cellular component
GO:0061564	axon development	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0007411	axon guidance	IDA	biological process
GO:0043025	neuronal cell body	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0044295	axonal growth cone	ISS	cellular component
GO:0045773	positive regulation of axon extension	ISS	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007399	nervous system development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	NAS	biological process
GO:0007399	nervous system development	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:0007411	axon guidance	TAS	biological process
GO:0050900	leukocyte migration	TAS	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0006935	chemotaxis	TAS	biological process
GO:0030424	axon	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019904	protein domain specific binding	IDA	molecular function
GO:0009986	cell surface	HDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance
hsa04514	Cell adhesion molecules

Diseases

Associated diseases	References
Hereditary spastic paraplegia	KEGG:H00266
Congenital hydrocephalus	KEGG:H01677
L1 syndrome	KEGG:H01034
MASA syndrome	KEGG:H02178
Hereditary spastic paraplegia	KEGG:H00266
Congenital hydrocephalus	KEGG:H01677
L1 syndrome	KEGG:H01034
MASA syndrome	KEGG:H02178
Pheochromocytoma	PMID:20937862
MASA syndrome	PMID:7920660
MASA syndrome	PMID:9643285
MASA syndrome	PMID:8786080
Alzheimer's disease	PMID:16298234
Hydrocephalus	PMID:7920659
pancreatic cancer	PMID:22095073
Glioblastoma multiforme	PMID:20419098
Bipolar disorder	PMID:18430502
pancreatic ductal carcinoma	PMID:20162456
Uterine cancer	PMID:13678974
lung non-small cell carcinoma	PMID:22307136
ovarian carcinoma	PMID:13678974
ovarian carcinoma	PMID:16424028
Schizophrenia	PMID:11425011
colorectal cancer	PMID:17873897
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq