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L1 cell adhesion molecule

Summary

Gene Symbol

L1CAM

Aliases

CAML1
CD171
NCAM-L1
neural cell adhesion molecule L1

Organism

Homo sapiens (human)

External Links

NCBI Gene

3897

HGNC

6470

KEGG Gene ID

hsa:3897

PubChem

3897

Alliance of Genome Resources

HGNC:6470

Annotation

Keyword

3D-structure
Alternative splicing
Cell adhesion
Cell membrane
Cell projection
Developmental protein
Differentiation
Direct protein sequencing
Disease variant
Disulfide bond
Glycoprotein
Hereditary spastic paraplegia
Hirschsprung disease
Immunoglobulin domain
Intellectual disability
Neurogenesis
Phosphoprotein
Reference proteome
Repeat
Signal
Transmembrane helix

Proteins

Displaying 1 entry
UniProt	Protein Name
P32004

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **6 - 10** of 11 in total

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GO Term	Evidence Code	PMID
homophilic cell adhesion via plasma membrane adhesion molecules	IBA
axon guidance	IDA	24155914
positive regulation of axon extension	ISS
neuron projection development	IDA	22973895
cell-matrix adhesion	IDA	22973895

GO Hierarchy

biological process

cellular process [inference]

cell adhesion

cell-substrate adhesion [inference]

cell-matrix adhesion

cell-cell adhesion [inference]

cell-cell adhesion via plasma-membrane adhesion molecules [inference]

homophilic cell adhesion via plasma membrane adhesion molecules

cell motility [inference]

cell migration

cellular component organization or biogenesis [inference]

cellular component organization [inference]

cell projection organization [inference]

plasma membrane bounded cell projection organization [inference]

neuron projection development

axon development

neuron projection guidance [inference]

axon guidance

cell junction organization [inference]

synapse organization

developmental process [inference]

anatomical structure development [inference]

system development [inference]

nervous system development

locomotion [inference]

taxis [inference]

chemotaxis

biological regulation [inference]

regulation of biological process [inference]

regulation of growth [inference]

regulation of cell growth [inference]

positive regulation of cell growth [inference]

positive regulation of axon extension

regulation of extent of cell growth [inference]

regulation of axon extension [inference]

positive regulation of axon extension

positive regulation of growth [inference]

positive regulation of cell growth [inference]

positive regulation of axon extension

positive regulation of developmental growth [inference]

positive regulation of axon extension

regulation of developmental growth [inference]

regulation of axon extension [inference]

positive regulation of axon extension

positive regulation of developmental growth [inference]

positive regulation of axon extension

positive regulation of biological process [inference]

positive regulation of growth [inference]

positive regulation of cell growth [inference]

positive regulation of axon extension

positive regulation of developmental growth [inference]

positive regulation of axon extension

positive regulation of cellular process [inference]

positive regulation of cell growth [inference]

positive regulation of axon extension

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

positive regulation of developmental growth [inference]

positive regulation of axon extension

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

positive regulation of multicellular organismal process [inference]

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

regulation of developmental process [inference]

regulation of anatomical structure morphogenesis [inference]

regulation of axonogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

regulation of cell differentiation [inference]

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

regulation of cell development [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

regulation of neurogenesis [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

regulation of developmental growth [inference]

regulation of axon extension [inference]

positive regulation of axon extension

positive regulation of developmental growth [inference]

positive regulation of axon extension

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

positive regulation of developmental growth [inference]

positive regulation of axon extension

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

regulation of multicellular organismal development [inference]

regulation of nervous system development [inference]

regulation of neurogenesis [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

regulation of cellular process [inference]

regulation of cell differentiation [inference]

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

regulation of cell development [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

regulation of neurogenesis [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

positive regulation of cellular process [inference]

positive regulation of cell growth [inference]

positive regulation of axon extension

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

regulation of cellular component organization [inference]

regulation of cell growth [inference]

positive regulation of cell growth [inference]

positive regulation of axon extension

regulation of extent of cell growth [inference]

regulation of axon extension [inference]

positive regulation of axon extension

regulation of cell projection organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

regulation of plasma membrane bounded cell projection organization [inference]

regulation of neuron projection development [inference]

regulation of axonogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

positive regulation of cellular component organization [inference]

positive regulation of cell projection organization [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

regulation of multicellular organismal process [inference]

positive regulation of multicellular organismal process [inference]

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

regulation of multicellular organismal development [inference]

regulation of nervous system development [inference]

regulation of neurogenesis [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of axonogenesis [inference]

positive regulation of axon extension

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
axon	IBA IDA	20621658
dendrite	IEA
neuronal cell body	IBA IDA	20621658
cell surface	HDA IDA	19581412 22973895
plasma membrane	IBA IDA TAS	20621658

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cell surface

membrane [inference]

plasma membrane

cell junction [inference]

anchoring junction [inference]

cell-substrate junction [inference]

focal adhesion

external encapsulating structure [inference]

extracellular matrix [inference]

collagen-containing extracellular matrix

site of polarized growth [inference]

growth cone [inference]

axonal growth cone

cell projection [inference]

plasma membrane bounded cell projection [inference]

neuron projection [inference]

cell body [inference]

neuronal cell body

Displaying **all 3** entries
GO Term	Evidence Code	PMID
axon guidance receptor activity	IBA
protein binding	IPI	18321067
protein domain specific binding	IDA	18321067

GO Hierarchy

molecular function

binding [inference]

protein binding

protein domain specific binding

molecular transducer activity [inference]

signaling receptor activity [inference]

transmembrane signaling receptor activity [inference]

axon guidance receptor activity

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000198910

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas

KEGG BRITE Database

Orthology

K06550

Name

L1 cell adhesion molecule

References

Disease

Disease Ontology

Displaying entries **111 - 120** of **292** in total

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DO ID	Disease Name	Source
DOID:0110815	hereditary spastic paraplegia 64	DisGeNET
DOID:0110816	hereditary spastic paraplegia 7	DisGeNET
DOID:0110817	hereditary spastic paraplegia 72A	DisGeNET
DOID:0110818	hereditary spastic paraplegia 73	DisGeNET
DOID:0110820	hereditary spastic paraplegia 75	DisGeNET
DOID:0110822	hereditary spastic paraplegia 77	DisGeNET
DOID:0110823	hereditary spastic paraplegia 8	DisGeNET
DOID:0110824	hereditary spastic paraplegia 9A	DisGeNET
DOID:0110825	hereditary spastic paraplegia 9B	DisGeNET
DOID:0110881	holoprosencephaly 1	DisGeNET

The Human Phenotype Ontology

Displaying entries **1 - 10** of 55 in total

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HPO ID	HPO Term
HP:0000218	High palate
HP:0000238	Hydrocephalus
HP:0000252	Microcephaly
HP:0000256	Macrocephaly
HP:0000280	Coarse facial features
HP:0000486	Strabismus
HP:0000639	Nystagmus
HP:0000750	Delayed speech and language development
HP:0001181	Adducted thumb
HP:0001188	Hand clenching

Displaying **all 7** entries
Disease ID	Disease Name
ORPHA:306617	X-linked complicated spastic paraplegia type 1
ORPHA:2182	X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
OMIM:304100	X-linked complicated corpus callosum dysgenesis
ORPHA:1497	X-linked complicated corpus callosum dysgenesis
OMIM:303350	MASA syndrome
OMIM:307000	X-linked hydrocephalus with stenosis of the aqueduct of Sylvius
ORPHA:2466	MASA syndrome

PubChem Disease

GHR Health Conditions

L1 syndrome

MedGen Diseases

OMIM Phenotypes

KEGG Diseases

Gene-Disease-Co-Occurrences-in-Literature (PubChem)

Ortholog

Displaying entries **21 - 30** of 68 in total

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Species	Gene ID	Orthologous MAtrix
Pan paniscus	100970233	PANPA42344
Pan troglodytes	450117	PANTR47095
Pongo abelii	100437141	PONAB36830
Canis lupus familiaris	492244	CANLF20290
Ursus americanus	123797329	URSAM29364
Ailuropoda melanoleuca	100482790	AILME02909
Mustela putorius furo	101681066	MUSPF01160
Felis catus	101088733	FELCA38721
Balaenoptera musculus	118889082	BALMU19904
Equus caballus	100059024	HORSE44159

GlyTouCan

GlyComb

GlycoPOST

UniCarb-DR

All Resources

Other Information

Tools

Search Tools

Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements