2. Gene
  3. CHL1 - cell adhesion molecule L1 like Gene

CHL1 - cell adhesion molecule L1 like Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
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

I-set: Immunoglobulin I-set domain (42 - 118)

I-set

I-set: Immunoglobulin I-set domain (248 - 327)

I-set

I-set: Immunoglobulin I-set domain (331 - 417)

I-set

I-set: Immunoglobulin I-set domain (431 - 511)

Ig_2

Ig_2: Immunoglobulin domain (516 - 607)

fn3

fn3: Fibronectin type III domain (613 - 698)

fn3

fn3: Fibronectin type III domain (714 - 795)

fn3

fn3: Fibronectin type III domain (818 - 904)

fn3

fn3: Fibronectin type III domain (918 - 1004)

Bravo_FIGEY

Bravo_FIGEY: Bravo-like intracellular region (1104 - 1191)

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  • 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%

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS02635 CHL1 Human Pre-designed siRNA Set A Pre-designed Sets / 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