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L1CAM Gene

protein-coding GIFtS: 69

GC0XM152780

L1 cell adhesion molecule
(Previous name: antigen identified by monoclonal antibody R1 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: HSAS1, SPG1, HSAS, MASA, MIC5, S10)

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
CAML1 ^², ³, ⁵
CD171 ^¹, ²
HSAS ^²
HSAS1 ^², ⁵
MASA ^²
MIC5 ^², ³
N-CAML1 ^²
OTTHUMP00000025992 ^²
S10 ^²
SPG1 ^²

Descriptions
CD171 antigen ^³
L1 cell adhesion molecule ^²
N-CAM L1 ^³
antigen identified by monoclonal antibody R1 ^¹, ²
neural cell adhesion molecule L1 ^²

External Ids
HGNC: 6470¹
Entrez Gene: 3897²
UniProtKB: P32004³
Ensembl: ENSG00000198910⁷

Search outside databases for aliases for L1CAM gene

Previous GC identifers: GC0XM147264 GC0XM149581 GC0XM150712 GC0XM151595 GC0XM152648

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for L1CAM:

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 three

X-linked neurological syndromes known by the acronym CRASH (corpus callosum hypoplasia,

retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of a

neuron-specific exon is thought to be functionally relevant. [provided by RefSeq]

UniProtKB/Swiss-Prot: L1CAM_HUMAN, P32004

Function: Cell adhesion molecule with an important role in the development of the nervous system.

Involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. Binds to

axonin on neurons

Gene Wiki entry for L1CAM (L1)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the L1CAM gene

Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28

L1CAM Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM152780: (about GC identifiers)

Start:	152,780,163 bp from pter
End:	152,804,819 bp from pter
Size:	24,657 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000023.9 NT_011726.13

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: L1CAM_HUMAN, P32004 (See protein sequence)

Recommended Name: Neural cell adhesion molecule L1 precursor

Size: 1257 amino acids; 140003 Da

Subcellular location: Cell membrane; Single-pass type I membrane protein

Secondary accessions: A0AV65 B2RMU7 Q8TA87

Alternative splicing: 2 isoforms: P32004-1 P32004-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (3 alternative transcripts):

NP_000416.1 NP_001137435.1 NP_076493.1

ENSEMBL proteins:

ENSP00000359074 ENSP00000359075 ENSP00000354712 ENSP00000355380 ENSP00000359077 ENSP00000359072

ENSP00000384902

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	R&D Systems Recombinant & Natural Proteins for L1CAM (NCAM-L1)
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (L1CAM )
	Human Recombinant Proteins from Abnova (L1CAM)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

2 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

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Antibodies for L1CAM:

	Invitrogen Antibodies for L1CAM
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibody Arrays and Antibodies for L1CAM
	R&D Systems Antibodies for L1CAM (NCAM-L1)
	Antibodies from Abcam (L1CAM ), each with their Abpromise^SM
	Browse Abnova for Monoclonal and Polyclonal Antibodies
	Search Novus for antibodies for L1CAM

Assays for L1CAM:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Graphical View of Domain Structure for InterPro Entry P32004

ProtoNet protein and cluster: P32004

2 Blocks protein families:

IPB003598 Immunoglobulin C-2 type

IPB013098 Immunoglobulin I-set

UniProtKB/Swiss-Prot: L1CAM_HUMAN, P32004

Similarity: Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family

Similarity: Contains 5 fibronectin type-III domains

Similarity: Contains 6 Ig-like C2-type (immunoglobulin-like) domains

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (L1CAM)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001143963

Applied Biosystems Silencer® siRNAs for L1CAM

Sigma-Aldrich siRNA and siRNA Panels for L1CAM

Sigma-Aldrich shRNA Panels and shRNA for L1CAM

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000425
Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000425
untagged cDNA clones in CMV expression vector (see all 3): NM_000425

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000425

UniProtKB/Swiss-Prot: L1CAM_HUMAN, P32004

Function: Cell adhesion molecule with an important role in the development of the nervous system.

Involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc. Binds to

axonin on neurons

Genatlas biochemistry entry for L1CAM:

cell adhesion molecule L1,expressed in the nervous system,Ig superfamily

15 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for L1cam):

behavior/neurological	craniofacial	endocrine/exocrine gland	growth/size	lethality-postnatal
lethality-prenatal/perinatal	life span-post-weaning/aging	nervous system	no phenotypic analysis	pigmentation
reproductive system	skeleton	skin/coat/nails	touch/vibrissae	vision/eye

1 Gene Ontology (GO) molecular function term (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IEA	--

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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for L1CAM (Your Favorite Gene powered by Ingenuity)

Axonal Guidance Signaling

GeneDecks L1CAM for the pathways selected above

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Gene Network Central^TM Interacting Genes and Proteins Network for L1CAM

5/34 Interacting proteins for L1CAM (ENSP00000359075³ P32004²) via UniProtKB, MINT, and/or STRING (see all 34 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ANK3	ENSP00000280772³	STRING (score=.965)
ENOPH1	ENSP00000273920³	STRING (score=.964)
NCAM1	ENSP00000318472³	STRING (score=.939)
CNTN2	ENSP00000330633³	STRING (score=.933)
CSNK2A1P	ENSP00000371400³	STRING (score=.933)

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4 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007155	cell adhesion	NAS	7920659
GO:0007275	multicellular organismal development	IEA	--
GO:0007399	nervous system development	TAS	1769655
GO:0030154	cell differentiation	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for L1CAM
1 Novoseek chemical compound relationship for L1CAM gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	0.00	1	9371782 (1)

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(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (L1CAM)
		Browse for Gene Knock-down Tools from Millipore
		Browse Abnova for Chimera RNAi Products

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 3): NM_001143963

Sigma-Aldrich siRNA and siRNA Panels for L1CAM

Sigma-Aldrich shRNA Panels and shRNA for L1CAM

Explore Sigma-Aldrich super-pooled esiRNAs

REFSEQ mRNAs for L1CAM gene (3 alternative transcripts):

NM_000425.3 NM_001143963.1 NM_024003.2

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 3): NM_000425
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 3): NM_000425
                                 untagged cDNA clones in CMV expression vector (see all 3): NM_000425

Additional cDNA sequence:

AB102653.1 AK289754.1 AY927549.1 AY927629.1 BC025843.1 BC126229.1 BC136447.1 CR603016.1

EF506611.1 M55271.1 M74387.1 M77640.1 X58776.1 X59847.1

15 DOTS entries:

DT.309885 DT.100026925 DT.95127819 DT.91767799 DT.121319567 DT.86859134 DT.86846403 DT.92065098

DT.100748607 DT.100835504 DT.121319473 DT.121319481 DT.40114908 DT.91724670 DT.91767800

24/168 AceView cDNA sequences (see all 168 ):

BI754787 CR603016 BF528116 NM_000425 BQ224417 BU163011 BQ641685 BM925310

AI553816 BG251775 BU539129 BF940373 NM_024003 AI671234 BQ718836 M55271

BF447548 AU125572 BI868491 X58776 AL515194 AB102653 BC025843 BE382549

highest scoring ESTs for L1CAM:

AL535207 AL556344 M74387 M77640 AB102653 AL120957 AL121322 AL135460 AL138325 AL515194

Unigene Cluster for L1CAM:

L1 cell adhesion molecule

Hs.522818 [show with all ESTs]

Unigene Representative Sequence: NM_000425

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for L1CAM (see all 10 )

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8	^	9a	·	9b	^	10	^	11a	·	11b	^	12a	·	12b	^	13	^	14	^	15	^	16	^	17	^	18	^	19a	·	19b	^	20a	·	20b	^
SP1:																									-																								-
SP2:			-
SP3:																																							-
SP4:
SP5:

ExUns:	21	^	22	^	23	^	24	^	25	^	26a	·	26b	^	27a	·	27b	^	28	^	29a	·	29b
SP1:																	-
SP2:
SP3:
SP4:
SP5:

About this scheme

ECgene alternative splicing isoforms for L1CAM

7 Ensembl transcripts including schematic representations:

ENST00000370057 ENST00000370058 ENST00000361981 ENST00000361699 ENST00000370060 ENST00000370055

ENST00000407935

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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L1CAM expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for L1CAM

¹ / ² / ³

5 probe-sets matching L1CAM gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38551_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	U52112	0.20	0.25	0.23	1
204584_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI653981	0.40	1.00	0.76	1
204585_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000425	0.60	1.00	0.82	1
204584_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
204585_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks L1CAM for binary patterns associated with the probe-sets selected above

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GCCGGCTTTC

SOURCE GeneReport for Unigene cluster: Hs.522818
Expression variation in blood from EXPOLDB for L1CAM

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
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Orthologs for L1CAM gene from 5/9 species (see all 9 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	L1CAM¹	--	L1 cell adhesion molecule	89.41(n) 92.04(a)	492244 XM_549364.2 XP_549364.2
chimpanzee (Pan troglodytes)	L1CAM¹	--	L1 cell adhesion molecule	99.73(n) 99.68(a)	450117 XM_001139376.1 XP_001139376.1
cow (Bos taurus)	L1CAM¹	--	L1 cell adhesion molecule	87.46(n) 89.5(a)	516017 XM_594145.3 XP_594145.2
rat (Rattus norvegicus)	L1cam¹	--	L1 cell adhesion molecule	85.36(n) 88.58(a)	50687 NM_017345.1 NP_059041.1
mouse (Mus musculus)	L1cam^{1, 5}	X (29.51 cM)⁵	L1 cell adhesion molecule^{1, 5}	85.83(n)¹ 88.61(a)¹	16728¹ NM_008478.3¹ NP_032504.3¹ AF133093⁵ AJ627046⁵ (see all 18)

About this table Species with no ortholog for L1CAM

ENSEMBL Gene Tree for L1CAM

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
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Paralogs for L1CAM gene

CHL1² NFASC² NRCAM²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/68 NCBI SNPs in L1CAM are shown (see all 68 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 52)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs2857746^1,2	H	152781205(-)	`TGCTGC/TCTCGG`	2	--	ut3¹ ese³		4	EU EA WA	414
	rs2156928^1,2	H	152783085(+)	`GTTGTA/CGCTGA`	2	Y/D	mis¹ ese³		4	EU EA WA	400
	rs35902890^1,2	F	152783737(-)	`ACCCCC/GGTGCG`	2	L/V	mis¹		1	NA	78
	rs2857747^1,2	H	152780619(-)	`GGCTGC/GGGGGC`	2	--	ut3¹ ese³		4	EU EA WA	418
	rs2071643^1,2	C,F,H	152785455(-)	`CAGGGG/AACACG`	2	G/G	syn¹ ese³		3	EA WA	298
--	rs5987173^1,2	C,F,H	152785422(+)	`GGGTCG/ACTGAC`	2	S/S	syn¹ ese³		4	EU EA WA	418
	rs1042512^1,2	C,F	152788841(-)	`CCAGCC/TGACCG`	2	A/A	syn¹		1	NA	74
	rs35151382^1,2	F	152789123(-)	`AAGCCG/ACGCCT`	2	P/P	syn¹		1	NA	72
--	rs4646265^1,2	A,C,F,H	152790302(-)	`CCCTTT/CGCATT`	2	--	int¹ trp³		4	EU EA WA	412
	rs2071127^1,2	A,C,F,H	152782750(+)	`TTGGGA/GCCCTC`	2	--	int¹		4	EU EA WA	418

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HapMap Linkage Disequilibrium images for L1CAM (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
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OMIM: 308840 disorders: 307000 303350 303350 142623 307000 304100

UniProtKB/Swiss-Prot: L1CAM_HUMAN, P32004

Defects in L1CAM are the cause of hydrocephalus due to stenosis of the aqueduct of Sylvius

(HSAS) [MIM:307000]. Hydrocephalus is a condition in which abnormal accumulation of cerebrospinal

fluid in the brain causes increased intracranial pressure inside the skull. This is usually due to

blockage of cerebrospinal fluid outflow in the brain ventricles or in the subarachnoid space at

the base of the brain. In children is typically characterized by enlargement of the head,

prominence of the forehead, brain atrophy, mental deterioration, and convulsions. In adults the

syndrome includes incontinence, imbalance, and dementia. HSAS is characterized by mental

retardation and enlarged brain ventricles

Defects in L1CAM are the cause of mental retardation-aphasia-shuffling gait-adducted

thumbs syndrome (MASA) [MIM:303350]; also known as corpus callosum hypoplasia, psychomotor

retardation, adducted thumbs, spastic paraparesis, and hydrocephalus or CRASH syndrome. MASA is an

X-linked recessive syndrome with a highly variable clinical spectrum. Main clinical features

include spasticity and hyperreflexia of lower limbs, shuffling gait, mental retardation, aphasia

and adducted thumbs. The features of spasticity have been referred to as complicated spastic

paraplegia type 1 (SPG1). Some patients manifest corpus callosum hypoplasia and hydrocephalus.

Inter- and intrafamilial variability is very wide, such that patients with hydrocephalus, MASA,

SPG1, and agenesis of corpus callosum can be present within the same family

Defects in L1CAM are the cause of spastic paraplegia X-linked type 1 (SPG1) [MIM:303350].

Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual,

progressive weakness and spasticity of the lower limbs

Defects in L1CAM may contribute to Hirschsprung disease (HSCR) [MIM:142623]. It may do so

by modifying the effects of a Hirschsprung disease-associated gene to cause intestinal

aganglionosis

Defects in L1CAM are a cause of partial agenesis of the corpus callosum [MIM:304100]; a

X-linked disorder

10/19 Novoseek disease relationships for L1CAM gene (see all 19 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
masa syndrome	97.00	17	7920660 (3), 15904436 (2), 7562969 (2), 9222959 (1) (see all 11)
spastic paraplegia	92.51	12	7562969 (2), 17294222 (1), 16650080 (1), 9744477 (1) (see all 11)
congenital hydrocephalus	86.89	5	11857550 (1), 9088116 (1), 16650080 (1), 10797421 (1) (see all 5)
hydrocephalus	85.44	65	9279760 (4), 15148591 (3), 9118141 (3), 17328266 (3) (see all 37)
mental retardation	74.79	14	9440802 (1), 12442287 (1), 17294222 (1), 19090026 (1) (see all 13)
hirschsprung disease	68.35	12	11857550 (3), 9279760 (2), 15148591 (1), 16650080 (1) (see all 6)
severe mental retardation	66.73	2	16816908 (1), 17328266 (1)
aqueductal stenosis	65.93	3	11857550 (1), 11787037 (1), 17318848 (1)
hypoplasia	65.22	5	11701594 (1), 11787037 (1), 10797421 (1), 15904436 (1) (see all 5)
diabetes insipidus nephrogenic	64.31	3	18553546 (1), 8323561 (1), 17318848 (1)

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GeneTests: L1CAM

L1 Syndrome

Human Gene Mutation Database: L1CAM
Genetic Association Database: L1CAM
Human Genome Epidemiology Navigator: L1CAM (8 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/180 PubMed articles for L1CAM gene (see all 180 ):

Identification of novel L1CAM mutations using fluorescence-assisted mismatch analysis. (PubMed id 9744477)^{1, 3, 4} Saugier-Veber P.... Frebourg T. (1998)
Molecular analysis of the L1CAM gene in patients with X-linked hydrocephalus demonstrates eight novel mutations and suggests non- allelic heterogeneity of the trait. (PubMed id 9268105)^{1, 3, 4} Gu S.-M.... Gal A. (1997)
Hydrocephalus and intestinal aganglionosis: is L1CAM a modifier gene in Hirschsprung disease? (PubMed id 11857550)^{1, 3, 4} Parisi M.A.... Leppig K.A. (2002)
The site of a missense mutation in the extracellular Ig or FN domains of L1CAM influences infant mortality and the severity of X linked hydrocephalus. (PubMed id 9832035)^{1, 3, 4} Michaelis R.C.... Schwartz C.E. (1998)
Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS. (PubMed id 7562969)^{1, 3, 4} Ruiz J.C....Cassiman J.-J. (1995)
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM. (PubMed id 7920660)^{1, 3, 4} Vits L.... Willems P.J. (1994)
Expanding the phenotypic spectrum of L1CAM-associated disease. (PubMed id 16650080)^{1, 3, 4} Basel-Vanagaite L.... Schwartz C.E. (2006)
Spectrum and detection rate of L1CAM mutations in isolated and familial cases with clinically suspected L1-disease. (PubMed id 10797421)^{1, 3, 4} Finckh U.... Gal A. (2000)
Multiple exon screening using restriction endonuclease fingerprinting (REF): detection of six novel mutations in the L1 cell adhesion molecule (L1CAM) gene. (PubMed id 9521424)^{1, 3, 4} Du Y.-Z.... Schwartz C.E. (1998)
Five novel mutations in the L1CAM gene in families with X linked hydrocephalus. (PubMed id 8929944)^{1, 3, 4} Gu S.-M.... Gal A. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
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Entrez Gene: 3897	HGNC: 6470	AceView: L1CAM	Ensembl:ENSG00000198910	euGenes: HUgn3897
ECgene: L1CAM	H-InvDB: L1CAM

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
ATLAS Chromosomes in Cancer entry for L1CAM	Genetics and Cytogenetics in Oncology and Haematology
GeneReviews	http://www.genetests.org/query?gene=L1CAM

Licensable Technologies for L1CAM
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for L1CAM:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for L1CAM-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for L1CAM		Antibodies for L1CAM
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for L1CAM		Browse small molecules at Sigma-Aldrich
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (L1CAM)
	Search for Antibodies
	Search for Chimera RNAi
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (L1CAM )
	Antibodies (L1CAM )

Search OriGene for L1CAM

Search Tocris compounds for L1CAM

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Search Novus for antibodies for L1CAM

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
L1CAM Gene at Home site.
Version 2.41.1
server5.xennexinc.com

L1CAM Gene

protein-coding GIFtS: 69

Aliases &
Descriptions
for L1CAM

Summaries
for L1CAM

Genomic Location
for L1CAM

Proteins
for L1CAM

Protein Domains/
Families
for L1CAM

Gene Function
for L1CAM

Pathways & Interactions
for L1CAM

Drugs & Compounds
for L1CAM

Transcripts
for L1CAM

Expression
for L1CAM

Orthologs
for L1CAM

Paralogs
for L1CAM

SNPs/Variants
for L1CAM

Disorders & Mutations
for L1CAM

Medical News
for L1CAM

Publications
for L1CAM

Search for L1CAM

Genome Databases showing L1CAM

Other Databases showing L1CAM

Specialized Databases showing L1CAM

Licensable Technologies
for L1CAM

Services
for L1CAM

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

L1CAM Gene

protein-coding GIFtS: 69

Aliases & Descriptionsfor L1CAM

Summariesfor L1CAM

Genomic Locationfor L1CAM

Proteinsfor L1CAM

Protein Domains/Familiesfor L1CAM

Gene Functionfor L1CAM

Pathways & Interactionsfor L1CAM

Drugs & Compoundsfor L1CAM

Transcriptsfor L1CAM

Expression for L1CAM

Orthologsfor L1CAM

Paralogsfor L1CAM

SNPs/Variantsfor L1CAM

Disorders & Mutationsfor L1CAM

Medical Newsfor L1CAM

Publicationsfor L1CAM

Search for L1CAM

Genome Databases showing L1CAM

Other Databases showing L1CAM

Specialized Databases showing L1CAM

Licensable Technologiesfor L1CAM

Servicesfor L1CAM

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for L1CAM

Summaries
for L1CAM

Genomic Location
for L1CAM

Proteins
for L1CAM

Protein Domains/
Families
for L1CAM

Gene Function
for L1CAM

Pathways & Interactions
for L1CAM

Drugs & Compounds
for L1CAM

Transcripts
for L1CAM

Expression
for L1CAM

Orthologs
for L1CAM

Paralogs
for L1CAM

SNPs/Variants
for L1CAM

Disorders & Mutations
for L1CAM

Medical News
for L1CAM

Publications
for L1CAM

Licensable Technologies
for L1CAM

Services
for L1CAM