CHL1 - cell adhesion molecule L1 like Gene

Homo sapiens

Also known as CALL; L1CAM2

Gene ID: 10752 | Gene type: protein coding

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)	AAI04919 (M1-Q1080)	≥95%

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02635	CHL1 Human Pre-designed siRNA Set A		/	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