Aliases for CHL1 Gene
Aliases for CHL1 Gene
- Cell Adhesion Molecule L1 Like 2 3
- Cell Adhesion Molecule L1-Like 2 3 5
- Close Homolog Of L1 2 3 4
- Cell Adhesion Molecule With Homology To L1CAM (Close Homologue Of L1) 2 3
- Cell Adhesion Molecule With Homology To L1CAM (Close Homolog Of L1) 2 3
- CALL 3 4
- Neural Cell Adhesion Molecule 2
- L1 Cell Adhesion Molecule 2 3
- L1CAM2 3
External Ids for CHL1 Gene
- HGNC: 1939
- Entrez Gene: 10752
- Ensembl: ENSG00000134121
- OMIM: 607416
- UniProtKB: O00533
Previous GeneCards Identifiers for CHL1 Gene
- GC03P000167
Summaries 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 3P- Syndrome and Large Cell Carcinoma With Rhabdoid Phenotype. Among its related pathways are Developmental Biology and L1CAM interactions. GO annotations related to this gene include protease binding. An important paralog of this gene is DSCAML1.
UniProtKB/Swiss-Prot for CHL1 Gene
-
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).
No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CHL1 Gene
Genomics for CHL1 Gene
Regulatory Elements for CHL1 Gene
Enhancers for CHL1 Gene
| GeneHancer Identifier | Score | Enhancer Sources | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Other Gene Targets for Enhancer |
|---|
Enhancers around CHL1 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for CHL1 Gene
- Chromosome:
- 3
- Start:
- 196,596 bp from pter
- End:
- 409,417 bp from pter
- Size:
- 212,822 bases
- Orientation:
- Plus strand
Genomic View for CHL1 Gene
Genes around CHL1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p26.3 by Ensembl
- 3p26.1 by Entrez Gene
- 3p26 by HGNC
CHL1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CHL1 Gene
Proteins for CHL1 Gene
-
Protein details for CHL1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O00533-NCHL1_HUMAN
- Recommended name:
- Neural cell adhesion molecule L1-like protein
- Protein Accession:
- O00533
- B7ZL03
- Q2M3G2
- Q59FY0
Protein attributes for CHL1 Gene
- Size:
- 1208 amino acids
- Molecular mass:
- 135071 Da
- Quaternary structure:
-
- May interact with L1CAM. May interact with ITGB1/ITGA1 heterodimer and ITGB1/ITGA2 heterodimer as well as with ANK3 (By similarity).
- SequenceCaution:
-
- Sequence=BAD92566.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for CHL1 Gene
Post-translational modifications for CHL1 Gene
- 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.
- N-glycosylated. Contains N-linked oligosaccharides with a sulfated carbohydrate structure type HNK-1 (SO4-3-GlcUABeta1,3GalBeta1,4GlcNAc) (By similarity).
- O-glycosylated.
- Glycosylation at Asn 299, Asn 476, Asn 482, Asn 562, Asn 580, Asn 767, Asn 822, Asn 945, Asn 1026, and Asn 231
- Modification sites at PhosphoSitePlus
Other Protein References for CHL1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for CHL1 (CHL-1/L1CAM-2)
-
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-
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- Invitrogen Antibodies for CHL1
- antibodies-online Antibodies for CHL1: See all 13
- GeneTex CHL1 antibody for CHL1
-
Santa Cruz Biotechnology (SCBT) Antibodies for CHL1
Protein Products
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- Sino Biological Recombinant Proteins for CHL1
-
Cloud-Clone Corp. Proteins for CHL1
- antibodies-online Proteins for CHL1: See all 6
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Assay Products
- R&D Systems Proteome Profiler Antibody Arrays and other biochemical assays for CHL1 (CHL-1/L1CAM-2)
-
Cloud-Clone Corp Assay Kits for CHL1
- antibodies-online Kits for CHL1: See all 3
No data available for DME Specific Peptides for CHL1 Gene
Domains & Families for CHL1 Gene
Gene Families for CHL1 Gene
Protein Domains for CHL1 Gene
Suggested Antigen Peptide Sequences for CHL1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
O00533UniProtKB/Swiss-Prot:
NCHL1_HUMAN :- The FIG[AQ]Y motif seems to be an ankyrin recruitment region.
- Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
- Domain:
-
- The FIG[AQ]Y motif seems to be an ankyrin recruitment region.
- The DGEA motif seems to be a recognition site for integrin.
- Contains 4 fibronectin type-III domains.
- Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
- Family:
-
- Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
Function for CHL1 Gene
Molecular function for CHL1 Gene
- GENATLAS Biochemistry:
- cell adhesion L1-like,highly expressed in brain,heart,prostate,ovary,small intestine and colon,immunoglobulin superfamily
- UniProtKB/Swiss-Prot 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).
Phenotypes for CHL1 Gene
- MGI mutant phenotypes for CHL1:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for CHL1:
Animal Models for CHL1 Gene
- MGI Knock Outs for CHL1:
-
- Chl1 tm1Mtg
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
-
ViGene Biosciences lentiviral particle packaged cDNA for CHL1 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CHL1 gene
- Search ViGene Biosciences for CHL1
CRISPR Products
-
OriGene CRISPR knockouts for CHL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHL1
- GenScript: Design CRISPR guide RNA sequences for CHL1
miRNA for CHL1 Gene
- miRTarBase miRNAs that target CHL1
miRNA Products
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Inhibitory RNA Products
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-
ViGene Biosciences ready-to-package AAV shRNAs for CHL1 gene
Clone Products
- OriGene clones in human for CHL1
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Cell Line Products
-
ViGene Biosciences adenoviral particle packaged cDNA for CHL1 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CHL1 gene
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for CHL1 Gene
Localization for CHL1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CHL1 Gene
- Cell membrane; Single-pass type I membrane protein. Note=Soluble forms produced by cleavage/shedding also exist. {ECO:0000250}.
- Processed neural cell adhesion molecule L1-like protein: Secreted, extracellular space, extracellular matrix.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 5 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| nucleus | 2 |
| cytosol | 1 |
| golgi apparatus | 1 |
| peroxisome | 1 |
| vacuole | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0030425 | dendrite | IEA | -- |
| GO:0045177 | apical part of cell | IEA | -- |
Pathways & Interactions for CHL1 Gene
More details on SuperPathways for CHL1| Superpath | Contained pathways | ||
|---|---|---|---|
| 1 | Developmental Biology |
.64
|
|
| 2 | L1CAM interactions |
Pathways by source for CHL1 Gene
4 Reactome pathways for CHL1 Gene
Interacting Proteins for CHL1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001764 | neuron migration | IEA | -- |
| GO:0007165 | signal transduction | TAS | 9799093 |
| GO:0007411 | axon guidance | IEA,TAS | -- |
| GO:0031103 | axon regeneration | IEA | -- |
| GO:0035640 | exploration behavior | IEA | -- |
No data available for SIGNOR curated interactions for CHL1 Gene
Transcripts for CHL1 Gene
mRNA/cDNA for CHL1 Gene
- (12) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (87) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CHL1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CHL1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CHL1
- GenScript: Design CRISPR guide RNA sequences for CHL1
miRNA Products
- Search ViGene Biosciences for CHL1
Inhibitory RNA Products
- Origene siRNA, shRNA, mouse_rna, and RNAi products in human, mouse, rat for CHL1
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-
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Clone Products
- OriGene clones in human for CHL1
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Flow Cytometry Products
| 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: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: |
| ExUns: | 19 | ^ | 20a | · | 20b | ^ | 21 | ^ | 22 | ^ | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28a | · | 28b | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32a | · | 32b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||||||||||||||
| SP2: | - | ||||||||||||||||||||||||||||||||
| SP3: | - | ||||||||||||||||||||||||||||||||
| SP4: | |||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||||||||
| SP10: |
Expression for CHL1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Bergmann Glia Purkinje Cell Layer
- Endothelial Cells Blood Brain Barrier
- Cerebral Cortex
- Lateral Ventricle
- Caudal astrospheres(Krencik R et. al. 2011)
-
Glial Cells
- Bergmann Glia Purkinje Cell Layer
- Caudal astrospheres(Krencik R et. al. 2011)
- NULL (Uncategorized)
-
Kidney (Urinary System)
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
-
Blood (Hematopoietic System)
- Natural Killer Cells Peripheral Blood
-
Peripheral Nervous System (Nervous System)
- Schwann Precursor Cells Peripheral Nerve Domain
-
Endothelium (Cardiovascular System)
- Endothelial Cells Blood Brain Barrier
- Neural Tube (Nervous System)
- Astrocytes (Nervous System)
- Oligodendrocytes (Nervous System)
- Spinal Cord (Nervous System)
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for CHL1 Gene
This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.4) and Brain - Anterior cingulate cortex (BA24) (x5.0).
This gene is overexpressed in Cerebrospinal fluid (34.6) and Serum (16.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CHL1 Gene
SOURCE GeneReport for Unigene cluster for CHL1 Gene Hs.148909
mRNA Expression by UniProt/SwissProt for CHL1 Gene
O00533-NCHL1_HUMAN
Tissue specificity:
Expressed in the fetal and adult brain as well as in Schwann cell culture. Also detected in adult peripheral tissues.
Primer Products
-
OriGene qPCR primer pairs for CHL1
Orthologs for CHL1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| cow (Bos Taurus) |
Mammalia | CHL1 35 |
|
||
| CHL1 36 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | CHL1 35 |
|
||
| CHL1 36 |
|
OneToOne | |||
| mouse (Mus musculus) |
Mammalia | Chl1 35 |
|
||
| Chl1 16 |
|
||||
| Chl1 36 |
|
OneToOne | |||
| chimpanzee (Pan troglodytes) |
Mammalia | CHL1 35 |
|
||
| CHL1 36 |
|
OneToOne | |||
| rat (Rattus norvegicus) |
Mammalia | Chl1 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CHL1 36 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CHL1 36 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CHL1 35 |
|
||
| CHL1 36 |
|
OneToOne | |||
| lizard (Anolis carolinensis) |
Reptilia | CHL1 36 |
|
OneToOne | |
| zebrafish (Danio rerio) |
Actinopterygii | chl1a 35 |
|
||
| CHL1 (1 of 2) 36 |
|
OneToMany | |||
| chl1a 36 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Nrg 37 |
|
|
|
| worm (Caenorhabditis elegans) |
Secernentea | C33F10.5a 37 |
|
|
|
| C33F10.5b 37 |
|
|
|||
| Y54G2A.25 37 |
|
|
- Species with no ortholog for CHL1:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
Paralogs for CHL1 Gene
Paralogs for CHL1 Gene
(8) SIMAP similar genes for CHL1 Gene using alignment to 7 proteins:
Variants for CHL1 Gene
| SNP ID | Clin | Chr 03 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs2272522 | - | 319,825(+) | TGTTC(C/T)TCCTG | reference, missense | |
| rs13060847 | - | 349,417(+) | GAGAA(A/G)CAAAA | reference, missense | |
| rs6442827 | - | 398,280(+) | ACCCA(A/G)TAGAG | intron-variant, reference, missense | |
| VAR_035505 | A colorectal cancer sample | ||||
| rs330891 | -- | 329,477(+) | GACTC(A/G)GAAGT | intron-variant |
Residual Variation Intolerance Score:
23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
6.50;
77.59% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CHL1 Gene
- Human Gene Mutation Database (HGMD)
- CHL1
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CHL1 Gene
Disorders for CHL1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| 3p- syndrome |
|
|
| large cell carcinoma with rhabdoid phenotype |
|
|
| adult mesoblastic nephroma |
|
|
| myositis fibrosa |
|
|
| gastric small cell carcinoma |
|
|
Search CHL1 in MalaCards
View complete list of genes associated with diseases
Relevant External Links for CHL1
No data available for UniProtKB/Swiss-Prot and Genatlas for CHL1 Gene
Publications for CHL1 Gene
- In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules. (PMID: 9799093) Wei M.-H. … Lerman M.I. (Hum. Genet. 1998) 2 3 4 67
- Molecular genetic analysis of a cell adhesion molecule with homology to L1CAM, contactin 6, and contactin 4 candidate chromosome 3p26pter tumor suppressor genes in ovarian cancer. (PMID: 19509545) Manderson E.N. … Tonin P.N. (Int. J. Gynecol. Cancer 2009) 3 23
- Case-control association study of the close homologue of L1 (CHL1) gene and schizophrenia in the Chinese population. (PMID: 15653271) Chen Q.Y. … He L. (Schizophr. Res. 2005) 3 23
- An association between a missense polymorphism in the close homologue of L1 (CHL1, CALL) gene and schizophrenia. (PMID: 11986985) Sakurai K. … Arinami T. (Mol. Psychiatry 2002) 3 23
- CHL1, ITGB3 and SLC6A4 gene expression and antidepressant drug response: results from the Munich Antidepressant Response Signature (MARS) study. (PMID: 25943212) Probst-Schendzielorz K. … Stingl J. (Pharmacogenomics 2015) 3
Products for CHL1 Gene
- R&D Systems Antibodies for CHL1 (CHL-1/L1CAM-2)
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- antibodies-online Antibodies for CHL1: See all 13
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- antibodies-online Proteins for CHL1: See all 6
- Search antibodies-online for peptides
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- ViGene Biosciences adenoviral particle packaged cDNA for CHL1 gene
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- Santa Cruz Biotechnology (SCBT) Antibodies for CHL1
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Sources for CHL1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
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