CABLES1 - Cdk5 and Abl enzyme substrate 1 Gene

Homo sapiens

Also known as CABL1; IK3-1; CABLES; HsT2563

Gene ID: 91768 | Gene type: protein coding

About CABLES1

Cytogenetic location: 18q11.2 Genomic coordinates (GRCh38): 18:23,134,564-23,260,470 (from NCBI)

This gene has 10 transcripts (splice variants), 209 orthologues and 1 paralogue. Broad expression in lung (RPKM 9.3), fat (RPKM 7.7) and 24 other tissues.

Summary

This gene encodes a protein involved in regulation of the cell cycle through interactions with several cyclin-dependent kinases. One study (PMID: 16177568) reported aberrant splicing of transcripts from this gene which results in removal of the cyclin binding domain only in human Cancer cells, and reduction in gene expression was shown in colorectal cancers (PMID: 17982127).Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

CABLES1 Products(3)

mRNA	Protein	Name
NM_001100619.3	NP_001094089.1	CDK5 and ABL1 enzyme substrate 1 isoform 2
NM_001256438.1	NP_001243367.1	CDK5 and ABL1 enzyme substrate 1 isoform 3
NM_138375.3	NP_612384.1	CDK5 and ABL1 enzyme substrate 1 isoform 1

CABLES1 Protein Structure

Cyclin_N

0
100
200
300
400
500
633 a.a.

Protein Preferred Names

Protein Names

CDK5 and ABL1 enzyme substrate 1

interactor with CDK3 1

Related Diseases

Diseases

Alias

Endometrial Hyperplasia

Dicer1 Syndrome

Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility Syndrome	Pleuropulmonary Blastoma Familial Tumor Susceptibility Syndrome
Ppb Familial Tumor Susceptibility Syndrome	Dicer1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome
Pleuro-Pulmonary Blastoma Familial Tumor Susceptibility	Dicer1-Related Pleuropulmonary Blastoma
Pleuropulmonary Blastoma Familial Tumor And Dysplasia Syndrome	Pleuropulmonary Blastoma Family Tumor Susceptibility Syndrome
Ppbftds	Doid:0081063

Pituitary Cancer

Pituitary Carcinoma	Malignant Pituitary Neoplasm
Malignant Tumor Of Pituitary Gland	Neoplasm Of Pituitary Gland
Pituitary Gland Cancer	Pituitary Gland Neoplasm
Pituitary Neoplasm	Carcinoma Of The Pituitary Gland
Neoplasm Of The Pituitary Gland	Pituitary Neoplasms
Malignant Neoplasm Of Pituitary Gland

Papillary Craniopharyngioma

Craniopharyngioma, Papillary	Papillary Rathke'S Pouch Tumor
Craniopharyngioma Papillary

Nelson Syndrome

Nelson'S Syndrome	Dermal Ridges
Ridges-Off-The-End Syndrome	Postadrenalectomy Cushing Syndrome

Acromesomelic Dysplasia 2b

Fibular Hypoplasia And Complex Brachydactyly	Du Pan Syndrome
AMD2B	Dupans
Acromesomelic Dysplasia-2b	Fibular Aplasia-Complex Brachydactyly Syndrome

Acth-Secreting Pituitary Adenoma

Acth-Producing Pituitary Adenoma	Corticotroph Adenoma
Corticotropinoma	Pituitary-Dependent Cushing'S Disease
Adrenal Gland Hyperfunction	Cushing Syndrome

Lissencephaly, X-Linked, 2

X-Linked Lissencephaly With Abnormal Genitalia	Hydranencephaly With Abnormal Genitalia
Xlag	Xlisg
X-Linked Lissencephaly With Ambiguous Genitalia	LISX2
Lissencephaly, X-Linked 2	X-Linked Lissencephaly 2
X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome	Xlag Syndrome
Lissencephaly, X-Linked, With Ambiguous Genitalia	Xlis2
X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies	X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome
Xlag Syndrome	Lissencephaly X-Linked With Ambiguous Genitalia
Lissencephaly, X-Linked, Type 2	Chromosome Xq26.3 Duplication Syndrome

Cardiomyopathy, Dilated, 1e

Left Ventricular Noncompaction 9	Left Ventricular Noncompaction 5
Dilated Cardiomyopathy 1e	Dilated Cardiomyopathy 1s
CMD1E	Cdcd2
Cardiomyopathy, Dilated, 1y	CMD1Y
Cardiomyopathy, Dilated, 1s	CMD1S
Dilated Cardiomyopathy 1y	Dilated Cardiomyopathy With Conduction Defect 2
Dilated Cardiomyopathy With Conduction Disorder And Arrhythmia	Cardiomyopathy, Dilated, With Conduction Disorder And Arrhythmia
Cardiomyopathy, Dilated, With Conduction Defect 2	Cardiomyopathy Dilated With Conduction Defect Type 2
Cardiomyopathy, Dilated 1e	Cardiomyopathy, Dilated 1s
Cardiomyopathy, Dilated 1y	Left Ventricular Non-Compaction 5
LVNC5	Left Ventricular Non-Compaction 9
LVNC9	Cardiomyopathy, Dilated, Type 1e
Cardiomyopathy, Dilated, Type 1s	Cardiomyopathy, Dilated, Type 1y

Carney Complex Variant

Carney Complex	Carney Syndrome
Carney Complex, Type 1	Lamb Syndrome
Name Syndrome	Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome
Carney Complex - Trismus - Pseudocamptodactyly Syndrome	Carney Complex, Type 2
Car	Cnc1
Carney Myxoma-Endocrine Complex	Myxoma - Spotty Pigmentation - Endocrine Overactivity
Myxoma, Spotty Pigmentation, And Endocrine Overactivity	Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome	Carney Complex-Trismus-Pseudocamptodactyly Syndrome
CACOV

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-RS01781	CABLES1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	CABLES1	VGNC	VGNC:38622
Mus musculus	CABLES1	MGD	MGI:1927065
Macaca mulatta	CABLES1	VGNC	VGNC:70625
Felis catus	CABLES1	VGNC	VGNC:80427
Bos taurus	CABLES1	VGNC	VGNC:26664
Rattus norvegicus	CABLES1	RGD	RGD:1305516

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