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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CHL1 Gene

protein-coding GIFtS: 64
GCID: GC03P000213

Cell Adhesion Molecule L1-Like

(Previous names: cell adhesion molecule with homology to L1CAM (close homologue...)

11 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
Cell Adhesion Molecule L1-Like¹ ²		L1CAM2² ⁵
Close Homolog Of L1¹ ² ³		Neural Cell Adhesion Molecule¹
CALL² ³ ⁵		L1 Cell Adhesion Molecule 2²
Cell Adhesion Molecule With Homology To L1CAM (Close Homolog Of L1)¹ ²		Neural Cell Adhesion Molecule L1-Like Protein²
Cell Adhesion Molecule With Homology To L1CAM (Close Homologue Of L1)¹ ²

External Ids:	HGNC: 1939¹	Entrez Gene: 10752²	Ensembl: ENSG00000134121⁷	OMIM: 607416⁵	UniProtKB: O00533³

Export aliases for CHL1 gene to outside databases

Previous GC identifer: GC03P000167

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

Entrez Gene summary for CHL1 Gene:

The protein encoded by this gene is a member of the L1 gene family of neural cell adhesion molecules. It is a

neural recognition molecule that may be involved in signal transduction pathways. The deletion of one copy of

this gene may be responsible for mental defects in patients with 3p- syndrome. This protein may also play a role

in the growth of certain cancers. Alternate splicing results in both coding and non-coding variants. (provided by

RefSeq, Nov 2011)

GeneCards Summary for CHL1 Gene:

CHL1 (cell adhesion molecule L1-like) is a protein-coding gene. Diseases associated with CHL1 include angiomyolipoma, and hydrocephalus, and among its related super-pathways are Axon guidance. GO annotations related to this gene include protease binding. An important paralog of this gene is ROBO2.

UniProtKB/Swiss-Prot: CHL1_HUMAN, O00533

Function: Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in

synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal

neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in

regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in

regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell

migration towards extracellular matrix proteins. Recruits ANK3 to the plasma membrane (By similarity)

Gene Wiki entry for CHL1 Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000003.11 NC_018914.2 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CHL1 gene promoter:
Oct-B1 Sox5 oct-B2 POU2F1 oct-B3 POU2F1a Olf-1 MyoD Nkx2-5
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CHL1 promoter sequence

Search SABiosciences Chromatin IP Primers for CHL1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CHL1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p26.1 Ensembl cytogenetic band: 3p26.3 HGNC cytogenetic band: 3p26

CHL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CHL1 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P000213: view genomic region (about GC identifiers)

Start:	238,279 bp from pter	End:	451,098 bp from pter
Size:	212,820 bases	Orientation:	plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CHL1_HUMAN, O00533 (See protein sequence)

Recommended Name: Neural cell adhesion molecule L1-like protein precursor

Size: 1208 amino acids; 135071 Da

Subunit: May interact with L1CAM. May interact with ITGB1/ITGA1 heterodimer and ITGB1/ITGA2 heterodimer as well as

with ANK3 (By similarity)

Subcellular location: Cell membrane; Single-pass type I membrane protein (By similarity). Note=Soluble forms

produced by cleavage/shedding also exist (By similarity)

Subcellular location: Processed neural cell adhesion molecule L1-like protein: Secreted, extracellular space,

extracellular matrix (By similarity)

Sequence caution: Sequence=BAD92566.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

Secondary accessions: B7ZL03 Q2M3G2 Q59FY0

Alternative splicing: 2 isoforms: O00533-1 O00533-2 (Glycosylated on Asn-231)

Explore the universe of human proteins at neXtProt for CHL1: NX_O00533

Explore proteomics data for CHL1 at MOPED

Post-translational modifications:

UniProtKB: Cleavage by metalloprotease ADAM8 in the extracellular part generates 2 soluble forms (125 kDa and 165 kDa) in

vitro and is inhibited by metalloprotease inhibitors

UniProtKB: N-glycosylated. Contains N-linked oligosaccharides with a sulfated carbohydrate structure type HNK-1

(SO4-3-GlcUABeta1,3GalBeta1,4GlcNAc) (By similarity)

UniProtKB: O-glycosylated (By similarity)

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_O00533

CHL1 Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins (3 alternative transcripts):

NP_001240316.1 NP_001240317.1 NP_006605.2

ENSEMBL proteins:

ENSP00000256509 ENSP00000380628 ENSP00000403311 ENSP00000413628 ENSP00000413109

ENSP00000397445 ENSP00000390440 ENSP00000395239

Reactome Protein details: O00533
Human Recombinant Protein Products for CHL1:

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	Cloud-Clone Corp. Proteins for CHL1

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0005886	plasma membrane	IEA	--
GO:0016021	integral to membrane	IEA	--
GO:0030425	dendrite	IEA	--
GO:0045177	apical part of cell	IEA	--

CHL1 for ontologies About GeneDecksing

CHL1 Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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	Novus Biologicals CHL1 Antibodies
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Assay Products for CHL1:

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

HGNC Gene Families:

FN3: Fibronectin type III domain containing

ISET: Immunoglobulin superfamily / I-set domain containing

IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

5/7 InterPro protein domains (see all 7):

IPR003598 Ig_sub2

IPR003961 Fibronectin_type3

IPR013098 Ig_I-set

IPR013783 Ig-like_fold

IPR007110 Ig-like_dom

Graphical View of Domain Structure for InterPro Entry O00533

ProtoNet protein and cluster: O00533

3 Blocks protein domains:

IPB003598 Immunoglobulin C-2 type

IPB003962 Fibronectin type III repeat signature

IPB013106 Immunoglobulin V-set

UniProtKB/Swiss-Prot: CHL1_HUMAN, O00533

Domain: The FIG[AQ]Y motif seems to be an ankyrin recruitment region

Domain: The DGEA motif seems to be a recognition site for integrin

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

Similarity: Contains 4 fibronectin type-III domains

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

CHL1 for domains About GeneDecksing

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CHL1_HUMAN, O00533

Function: Extracellular matrix and cell adhesion protein that plays a role in nervous system development and in

synaptic plasticity. Both soluble and membranous forms promote neurite outgrowth of cerebellar and hippocampal

neurons and suppress neuronal cell death. Plays a role in neuronal positioning of pyramidal neurons and in

regulation of both the number of interneurons and the efficacy of GABAergic synapses. May play a role in

regulating cell migration in nerve regeneration and cortical development. Potentiates integrin-dependent cell

migration towards extracellular matrix proteins. Recruits ANK3 to the plasma membrane (By similarity)

Genatlas biochemistry entry for CHL1:

cell adhesion L1-like,highly expressed in brain,heart,prostate,ovary,small intestine and colon,immunoglobulin

superfamily

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002020	protease binding	IEA	--
GO:0005515	protein binding	--	--

CHL1 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for CHL1:

Decreased homologous recombina

Increased gamma-H2AX phosphory

5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Chl1):

behavior/neurological

craniofacial

nervous system

respiratory system

taste/olfaction

CHL1 for phenotypes About GeneDecksing

Animal Models:
MGI mouse knock-out Chl1^tm1Mtg for CHL1

inGenious Targeting Laboratory - Custom generated mouse model solutions for CHL1

inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CHL1

genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CHL1

genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CHL1

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHL1
		8/66 QIAGEN miScript miRNA Assays for microRNAs that regulate CHL1 (see all 66):
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for CHL1
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CHL1
		Search LifeMap BioReagents cell lines for CHL1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHL1

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for CHL1 About

See pathways by source

SuperPath

Contained pathways About

Axon guidance

	Axon guidance	0.69			L1CAM interactions	0.39
	Developmental Biology	0.69

CHL1 interactions

CHL1 interactions

Pathways by source See SuperPaths
Show all pathways

4 Reactome Pathways for CHL1

	L1CAM interactions
	Developmental Biology
	CHL1 interactions
	Axon guidance

CHL1 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for CHL1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/8 Interacting proteins for CHL1 (O00533³ ENSP00000256509⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 8)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
JUN	P05412³, ENSP00000360266⁴	I2D: score=1 STRING: ENSP00000360266
YWHAG	P61981³	I2D: score=2
CNTN6	Q9UQ52³	I2D: score=1
E2F1	Q01094³	I2D: score=1
PTPRA	P18433³	I2D: score=1

About this table

Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001764	neuron migration	IEA	--
GO:0007155	cell adhesion	IEA	--
GO:0007165	signal transduction	TAS	9799093
GO:0007411	axon guidance	TAS	--
GO:0008344	adult locomotory behavior	IEA	--

CHL1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CHL1

Search CenterWatch for drugs/clinical trials and news about CHL1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CHL1 gene (3 alternative transcripts):

NM_001253387.1 NM_001253388.1 NM_006614.3

Unigene Clusters for CHL1:

Cell adhesion molecule with homology to L1CAM (close homolog of L1)

Hs.148909 [show with all ESTs], Hs.731409 [show with all ESTs]

Unigene Representative Sequences: NM_006614, NR_045572

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000256509(uc003bot.3 uc003bou.3 uc011asi.2) ENST00000481167

ENST00000397491 ENST00000427688 ENST00000421198 ENST00000489224(uc003bov.2)

ENST00000453040(uc003bow.2) ENST00000435603 ENST00000486881 ENST00000449294

ENST00000461289 ENST00000471332 ENST00000470880 ENST00000470005 ENST00000445697

miRNA Products:		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CHL1
		8/66 QIAGEN miScript miRNA Assays for microRNAs that regulate CHL1 (see all 66):
		hsa-miR-607 hsa-miR-30d hsa-miR-30a hsa-miR-3622b-3p hsa-miR-29a* hsa-miR-3148 hsa-miR-4289 hsa-miR-130a*

		Browse SwitchGear 3'UTR luciferase reporter plasmids

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Additional mRNA sequence:

AK055236.1 AL359583.1 CR749682.1 NR_045572.1

14 DOTS entries:

DT.415441 DT.91933996 DT.91881116 DT.99990744 DT.95267255 DT.100754976 DT.75101724 DT.75131541

DT.99933348 DT.100754975 DT.120917962 DT.120917968 DT.91913596 DT.95260321

24/87 AceView cDNA sequences (see all 87):

BX281365 NM_006614 BI826070 AI828871 AL359583 BE677386 BF062227 BX472763

BF197230 CR749682 BF056756 CD673182 AI971581 AI632478 N59237 H05766

AI362292 AV706660 BX645130 BG700745 AI261407 Z38291 T07470 T33886

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for CHL1 (see all 10) About this scheme

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

ExUns:	19	^	20a	·	20b	^	21	^	22	^	23	^	24	^	25	^	26	^	27	^	28a	·	28b	^	29	^	30	^	31	^	32a	·	32b
SP1:											-
SP2:											-
SP3:											-
SP4:
SP5:																									-

ECgene alternative splicing isoforms for CHL1

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CHL1 expression in normal human tissues (normalized intensities) CHL1 embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTTGTACAGC

About this image

CHL1 expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database

5/12 selected tissues (see all 12) fully expand


Brain (Nervous System) fully expand to see all 6 entries
Endothelial Cells Blood Brain Barrier
Fetal Neuronal Stem Cells (NSC)
Trigeminal Ganglion

Blood Brain Barrier (Nervous System)
Endothelial Cells Blood Brain Barrier

Gut Tube (Gastrointestinal Tract)
Endoderm progenitor-like cells ( Generation and expansion of endodermal progenitor...

Peripheral Nervous System (Nervous System)
Schwann Precursor Cells Peripheral Nerve Domain

Inner Cell Mass (Early Embryonic Tissues)
Line H9 (WA09)

See CHL1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CHL1

SOURCE GeneReport for Unigene clusters: Hs.148909 Hs.731409

UniProtKB/Swiss-Prot: CHL1_HUMAN, O00533

Tissue specificity: Expressed in the fetal and adult brain as well as in Schwann cell culture. Also detected in

adult peripheral tissues

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In Situ
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CHL1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for CHL1 gene from 7/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Chl1^{1 , 5}	cell adhesion molecule with homology to L1CAM^{1, 5}	84.62(n)¹ 84.92(a)¹		6 (47.97 cM)⁵ 12661¹ NM_007697.2¹ NP_031723.2¹ 103510876⁵
chicken (Gallus gallus)	Aves	CHL1¹	cell adhesion molecule with homology to L1CAM (close more	68.98(n) 64.93(a)		416102 XM_414434.3 XP_414434.3
lizard (Anolis carolinensis)	Reptilia	CHL1⁶	Uncharacterized protein	58(a)	1 ↔ 1	2(176790205-176885366)
tropical clawed frog (Xenopus tropicalis)	Amphibia	137713942²	--	70.6(n)		137713942
zebrafish (Danio rerio)	Actinopterygii	chl1a¹	cell adhesion molecule with homology to L1CAM (close more	53.62(n) 45.56(a)		566148 NM_001163106.1 NP_001156578.1
fruit fly (Drosophila melanogaster)	Insecta	Nrg³	neuronal cell adhesion cell adhesion molecule	28(a)		--
worm (Caenorhabditis elegans)	Secernentea	Y54G2A.25³	--	29(a) (best of 3)		IV(2964432-2978401) --

ENSEMBL Gene Tree for CHL1 (if available)
TreeFam Gene Tree for CHL1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CHL1 gene

ROBO2² CNTN2² CNTN6² ROBO1² CNTN5² CNTN4² NFASC² NRCAM²

CNTN3² ROBO3² L1CAM² CNTN1²

8 SIMAP similar genes for CHL1 using alignment to 7 protein entries: CHL1_HUMAN (see all proteins):

L1CAM NRCAM NFASC PXDN PTPRS HSPG2

MUSK DKFZp781D102

CHL1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_035505⁴		A colorectal cancer sample⁴	--	see VAR_035505	2	L I	mis⁴		0	--	--	--	--
rs147574033^1,2		--	236279(+)	`GGGGAC/GGGTTC`	2	--	us2k¹		0	--	--	--	--
rs142626388^1,2		--	236302(+)	`AGAAGA/GTATCT`	2	--	us2k¹		0	--	--	--	--
rs146890116^1,2		--	236321(+)	`CATCCA/GCTCTG`	2	--	us2k¹		0	--	--	--	--
rs200609852^1,2	C	--	236440(-)	`TCATAC/TTTTTG`	2	--	us2k¹		0	--	--	--	--
rs56039304^1,2	C	--	236451(+)	`ACTCAT/ACCTTG`	2	--	us2k¹		3		NA EA	242
rs56032805^1,2	C,F	--	236502(+)	`AGGTCA/GTCTGT`	2	--	us2k¹		9		WA NA CSA EA	368
rs79634618^1,2		--	236585(+)	`ATCCTC/TCCTCC`	2	--	us2k¹		1		CSA	1
rs28667750^1,2	C,F	--	236589(+)	`TTCCTC/TCCTTC`	2	--	us2k¹ trp³		3		NA WA CSA	6
rs72012228^1,2	C	--	236590(+)	`CCTCC-/CCTT CTTCC`	2	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CHL1 (238279 - 451098 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/40 variations for CHL1 (see all 40): About this table

Variant ID	Type	Subtype	PubMed ID
esv1945808	CNV	Deletion	18987734
esv2663135	CNV	Deletion	23128226
esv2271283	CNV	Deletion	18987734
esv2668040	CNV	Deletion	23128226
esv2675472	CNV	Deletion	23128226
esv2662179	CNV	Deletion	23128226
esv2667629	CNV	Deletion	23128226
nsv3671	CNV	Insertion	18451855
nsv460307	CNV	Loss	19166990
nsv3670	CNV	Loss	18451855

Human Gene Mutation Database (HGMD): CHL1

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 607416 OMIM disorders: --

11 diseases for CHL1: About MalaCards

angiomyolipoma hydrocephalus scoliosis schizophrenia

ovarian cancer mental retardation cervical cancer cervicitis

neuronitis prostatitis breast cancer

1 disease from the University of Copenhagen DISEASES database for CHL1:

Leukemia

CHL1 for disorders About GeneDecksing

1 Novoseek inferred disease relationship for CHL1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
schizophrenia	20.4	18	15653271 (4), 11986985 (3)

Genetic Association Database (GAD): CHL1
Human Genome Epidemiology (HuGE) Navigator: CHL1 (7 documents)

Export disorders for CHL1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for CHL1 gene, integrated from 9 sources (see all 42):
(articles sorted by number of sources associating them with CHL1)

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In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules. (PubMed id 9799093)^{1, 2, 3} Wei M.-H.... Lerman M.I. (1998)
Case-control association study of the close homologue of L1 (CHL1) gene and schizophrenia in the Chinese population. (PubMed id 15653271)^{1, 4, 9} Chen Q.Y....He L. (2005)
An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia. (PubMed id 11986985)^{1, 4, 9} Sakurai K....Arinami T. (2002)
GWAS for discovery and replication of genetic loci as sociated with sudden cardiac arrest in patients with coronary artery disease. (PubMed id 21658281)^{1, 4} Aouizerat B.E....Tseng Z.H. (2011)
Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)^{1, 4} Rose J.E....Uhl G.R. (2010)
Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)^{1, 4} Jugessur A....Murray J.C. (2010)
Polymorphism in the IL18 gene and epithelial ovarian cancer in non-Hispanic white women. (PubMed id 19064572)^{1, 4} Palmieri R.T.... . (2008)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Molecular genetic analysis of a cell adhesion molecul e with homology to L1CAM, contactin 6, and contactin 4 candidate chromosome 3p2 6pter tumor suppressor genes in ovarian cancer. (PubMed id 19509545)^{1, 9} Manderson E.N....Tonin P.N. (2009)

(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, Kegg, and/or H-InvDB)
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Entrez Gene: 10752	HGNC: 1939	AceView: CHL1	Ensembl:ENSG00000134121	euGenes: HUgn10752
ECgene: CHL1	H-InvDB: CHL1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for CHL1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for CHL1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for CHL1 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CHL1 gene:
Search GeneIP for patents involving CHL1

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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Cell Adhesion Molecule L1-Like

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