CABLES1 - Cdk5 and Abl enzyme substrate 1 Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 91768

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

Gene Ontology

  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence 参考文献 由来
enables protein binding IPI
IPI: Inferred from physical interaction
20559324 GOA
Cellular Component GO Annotation Evidence 参考文献 由来
located in cytosol IDA
IDA: Inferred from direct assay
17101133 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CABLES1 Protein Structure

Cyclin_N

Cyclin_N: Cyclin, N-terminal domain (529 - 615)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 633 a.a.
Protein Preferred Names Protein Names

CDK5 and ABL1 enzyme substrate 1

  • interactor with CDK3 1

CABLES1 Protein-protein interaction Information

Type
タンパク質名 Protein ID Interactor Interactor Species Interactor ID Detection Method 参考文献
Intra
CABLES1 Q8TDN4 TP63 Homo sapiens Q9H3D4-1
FRET
20559324
Intra
CABLES1 Q8TDN4 TP63 Homo sapiens Q9H3D4-1
Anti Tag CoIP
20559324
Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS01781 CABLES1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others CABLES1 NCBI