CHL1 - cell adhesion molecule L1 like Gene

Also Known as CALL; L1CAM2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10752

About CHL1

Cytogenetic location: 3p26.3 Genomic coordinates (GRCh38): 3:196,763-409,417 (from NCBI)

This gene has 16 transcripts (splice variants), 137 orthologues and 36 paralogues. Biased expression in brain (RPKM 21.7), ovary (RPKM 3.5) and 12 other tissues.

Summary

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]

CHL1 Products (3)

mRNA	Protein	Name
NM_001253387.2	NP_001240316.1	neural cell adhesion molecule L1-like protein isoform 2 precursor
NM_001253388.1	NP_001240317.1	neural cell adhesion molecule L1-like protein isoform 3 precursor
NM_006614.4	NP_006605.2	neural cell adhesion molecule L1-like protein isoform 1 precursor

CHL1 Protein Structure

I-set

Ig_2

fn3

Bravo_FIGEY

0
200
400
600
800
1000
1208 a.a.

Protein Preferred Names	Protein Names
neural cell adhesion molecule L1-like protein	L1 cell adhesion molecule 2

Recombinant CHL1 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75347	CHL1 Protein, Human (HEK293, His)	O00533-1/AAI04919 (I25-Q1080)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Large Cell Carcinoma With Rhabdoid Phenotype	Large Cell Lung Carcinoma With Rhabdoid Phenotype
Neurohypophysis Granular Cell Tumor	Granular Cell Tumor Of The Neurohypophysis
Cholangiolocellular Carcinoma
Maxillary Sinus Benign Neoplasm	Neoplasm Of Maxillary Sinus Tumor Of Maxillofacial Sinus Maxillary Sinus Neoplasms Maxillary Sinus Neoplasm
Sialuria	Sialuria, French Type French Type Sialuria Sialuria French Type Sialic Acid Storage Disease Sialic Acid Storage Disease, Finnish Type Infantile Sialic Acid Storage Disease
Large Cell Neuroendocrine Carcinoma
Nonaka Myopathy	Gne Myopathy Hibm Distal Myopathy With Rimmed Vacuoles Hereditary Inclusion Body Myopathy Ibm2 Inclusion Body Myopathy, Quadriceps-Sparing Qsm Dmrv Distal Myopathy, Nonaka Type Inclusion Body Myopathy 2 Inclusion Body Myopathy, Autosomal Recessive NM Nonaka Distal Myopathy Myopathy, Distal, With Or Without Rimmed Vacuoles Inclusion Body Myopathy, Hereditary, Autosomal Recessive Inclusion Body Myopathy Type 2 Quadriceps-Sparing Myopathy Quadriceps Sparing Myopathy Rimmed Vacuole Myopathy Inclusion Body Myopathy 2, Autosomal Recessive, Formerly Ibm2, Formerly Hibm2 Hereditary Inclusion Body Myopathy Type 2 Inclusion Body Myopathy 2, Autosomal Recessive Myopathy, Distal, With Rimmed Vacuoles Inclusion Body Myopathy Autosomal Recessive Myopathy, Inclusion Body, Type 2 Myopathy, Nonaka
Pulmonary Neuroendocrine Tumor	Neuroendocrine Neoplasm Of Lung
Lung Large Cell Carcinoma	Large Cell Carcinoma Of Lung Large Cell Lung Carcinoma Large Cell Lung Cancer
Schizophrenia	SCZD Schizophrenia With Or Without An Affective Disorder Schizophrenia 12 Schizophrenia, Susceptibility To Schizophrenia-1 Dementia Praecox Schizophrenia 1
Masa Syndrome	L1 Syndrome Crash Syndrome X-Linked Hydrocephalus Syndrome SPG1 Gareis-Mason Syndrome Spastic Paraplegia 1, X-Linked Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome L1cam Syndrome Spastic Paraplegia 1 Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs Clasped Thumb And Mental Retardation Thumb, Congenital Clasped, With Mental Retardation Adducted Thumb With Mental Retardation Hereditary Spastic Paraplegia 1 X-Linked Complicated Hereditary Spastic Paraplegia Type 1 X-Linked Corpus Callosum Agenesis X-Linked Spastic Paraplegia 1 L1 Disease X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis Adducted Thumb With Intellectual Disability Clasped Thumb And Intellectual Disability Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs Thumb Congenital Clasped With Intellectual Disability X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome Adducted Thumbs-Mental Retardation Syndrome Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome Mental Retardation-Clasped Thumb Syndrome Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome Spastic Paraplegia Type 1, X-Linked MASA Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus Crash Masa Syndrome
Ovarian Large-Cell Neuroendocrine Carcinoma	Non-Small-Cell Type Neuroendocrine Carcinoma Of Ovary Ovarian Large Cell Neuroendocrine Carcinoma
Gallbladder Small Cell Carcinoma	Oat Cell Carcinoma Of The Gallbladder Gallbladder Small Cell Neuroendocrine Carcinoma
Scoliosis
Esophageal Neuroendocrine Tumor	Esophageal Neuroendocrine Tumour Neuroendocrine Tumor Of Esophagus Neuroendocrine Tumour Of Oesophagus
Hirschsprung Disease 1	Hirschsprung Disease Aganglionic Megacolon Hscr Hirschsprung'S Disease Congenital Megacolon Congenital Intestinal Aganglionosis Colonic Aganglionosis Hirschsprung Disease, Susceptibility To, 1 Hirschsprung Disease, Protection Against HSCR1 Mgc Pelvirectal Achalasia Total Intestinal Aganglionosis Megacolon, Aganglionic Macrocolon Hscr 1 Hirschsprung Disease Type 1 Hirschsprung Disease, Type 1 Congenital Dilatation Of Colon Aganglionosis Congenital Aganglionic Megacolon Aganglionosis Of Colon Bowel Aganglionosis Colon Aganglionosis Hirschsprung Megacolon
Wilms Tumor 1	Nephroblastoma Wilms Tumor WT1 Wilms' Tumor Bilateral Wilms Tumor Wilms Tumor, Type 1 Wilms Tumor, Somatic Adult Nephroblastoma Wt1 Disorder Renal Embryonic Tumor Adult Kidney Wilms Tumor Childhood Kidney Wilms Tumor Nonanaplastic Kidney Wilms Tumor
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (7)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-153685	NISC-6		/	Unkown
HY-RS02635	CHL1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03631	DDX11 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17802	Chl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18418	Chrdl1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21547	Ddx11 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24270	Chl1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CHL1	VGNC	VGNC:39219
Felis catus	CHL1	VGNC	VGNC:80021
Mus musculus	CHL1	MGD	MGI:1098266
Bos taurus	CHL1	VGNC	VGNC:27296
Macaca mulatta	CHL1	VGNC	VGNC:84202
Rattus norvegicus	CHL1	RGD	RGD:620122
Others	CHL1	NCBI