CABLES1 - Cdk5 and Abl enzyme substrate 1 Gene

中文名称：Cdk5 和 Abl 酶底物 1

种属: Homo sapiens

同用名: CABL1; IK3-1; CABLES; HsT2563

基因 ID: 91768 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种蛋白质，通过与几种细胞周期蛋白依赖性激酶的相互作用参与细胞周期的调节。一项研究 (PMID: 16177568) 报道了该基因转录本的异常剪接，这导致仅在人类癌细胞中去除了细胞周期蛋白结合域，并且在结直肠癌中显示了基因表达的减少 (PMID: 17982127) 。多个转录变体编码已发现该基因的不同亚型。[RefSeq 提供，2012 年 1 月]

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 基因产物(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

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	20559324	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytosol	IDA IDA: 通过直接分析推断	17101133	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

CABLES1 蛋白结构

Cyclin_N

0
100
200
300
400
500
633 a.a.

蛋白主名

其他名称

CDK5 and ABL1 enzyme substrate 1

interactor with CDK3 1

CABLES1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	CABLES1	Q8TDN4	TP63	Homo sapiens	Q9H3D4-1	FRET	20559324
种属内	CABLES1	Q8TDN4	TP63	Homo sapiens	Q9H3D4-1	Anti Tag CoIP	20559324

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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.	产品名	作用方式	纯度	是否罕见病
HY-RS01781	CABLES1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

CABLES1 - Cdk5 and Abl enzyme substrate 1 Gene

关于 CABLES1

功能概要

CABLES1 基因产物(3)

CABLES1 蛋白结构

CABLES1 蛋白互作信息

关联疾病

直系同源

热门区域

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CABLES1 - Cdk5 and Abl enzyme substrate 1 Gene

关于 CABLES1

功能概要

CABLES1 基因产物(3)

CABLES1 蛋白结构

CABLES1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z