ABCC11 - ATP binding cassette subfamily C member 11 Gene

中文名称：ATP 结合盒亚家族 C 成员 11

种属: Homo sapiens

同用名: WW; EWWD; MRP8

基因 ID: 85320 | 基因类型: protein coding

关于 ABCC11

Cytogenetic location: 16q12.1 Genomic coordinates (GRCh38): 16:48,164,819-48,247,539 (from NCBI)

This gene has 9 transcripts (splice variants), 450 orthologues, 11 paralogues and is associated with 1 phenotype. Biased expression in testis (RPKM 1.2), prostate (RPKM 0.5) and 3 other tissues.

功能概要

由该基因编码的蛋白质是 ATP 结合盒 (ABC) 转运蛋白超家族的成员。 ABC 蛋白可跨细胞外膜和细胞内膜转运各种分子。 ABC 基因分为七个不同的亚家族 (ABC1、MDR/TAP、MRP、ALD、OABP、GCN20、White) 。这种 ABC 全转运蛋白是参与多重耐药性的 MRP 亚家族的成员。该基因的产物参与涉及胆汁酸、结合类固醇和环核苷酸的生理过程。此外，该基因中的一个 SNP 负责确定人耳垢的类型。该基因和家族成员 ABCC12 被确定是通过复制衍生的，并且都定位于染色体 16q12.1。已针对该基因描述了多个选择性剪接的转录物变体。[RefSeq 提供，2008 年 7 月]

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated Steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]

ABCC11 基因产物(5)

mRNA	Protein	Name
NM_001370496.1	NP_001357425.1	ATP-binding cassette sub-family C member 11 isoform c
NM_001370497.1	NP_001357426.1	ATP-binding cassette sub-family C member 11 isoform a
NM_032583.4	NP_115972.2	ATP-binding cassette sub-family C member 11 isoform a
NM_033151.4	NP_149163.2	ATP-binding cassette sub-family C member 11 isoform a
NM_145186.3	NP_660187.1	ATP-binding cassette sub-family C member 11 isoform b

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables ABC-type bile acid transporter activity	IDA IDA: 通过直接分析推断	15537867	GOA
enables ABC-type glutathione S-conjugate transporter activity	IDA IDA: 通过直接分析推断	15537867	GOA
enables ABC-type xenobiotic transporter activity	IDA IDA: 通过直接分析推断	15537867	GOA
enables organic anion transmembrane transporter activity	IDA IDA: 通过直接分析推断	15537867	GOA
enables purine nucleotide transmembrane transporter activity	IDA IDA: 通过直接分析推断	12764137	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in bile acid and bile salt transport	IDA IDA: 通过直接分析推断	15537867	GOA
involved in leukotriene transport	IDA IDA: 通过直接分析推断	15537867	GOA
involved in organic anion transport	IDA IDA: 通过直接分析推断	15537867	GOA
involved in purine nucleotide transport	IDA IDA: 通过直接分析推断	12764137	GOA
involved in xenobiotic transport	IDA IDA: 通过直接分析推断	15537867	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in apical plasma membrane	IDA IDA: 通过直接分析推断	16359813	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	16359813	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

ABCC11 蛋白结构

ABC_membrane

ABC_tran

ABC_membrane

ABC_tran

0
300
600
900
1200
1382 a.a.

蛋白主名

其他名称

ATP-binding cassette sub-family C member 11

ATP-binding cassette protein C11

关联疾病

疾病名称

别名

Apocrine Gland Secretion, Variation In

Ear Wax, Wet/Dry	Axillary Odor, Variation In
Ewwd	Wet Wax
Ww	Cerumen, Variation In
Colostrum Secretion, Variation In	Earwax, Wet/Dry
Secretion, Gland, Apocrine, Variation In

Lateral Sinus Thrombosis

Thrombosis Of Lateral Venous Sinus

Thrombosis Transverse Sinus

Episodic Kinesigenic Dyskinesia 1

Paroxysmal Kinesigenic Choreoathetosis	Paroxysmal Kinesigenic Dyskinesia
Dystonia 10	Familial Paroxysmal Kinesigenic Dyskinesia
Episodic Kinesigenic Dyskinesia	EKD1
Pkc	Pkd
Dyt10	Familial Pkd
Paroxysmal Kinesigenic Choreathetosis	Familial Paroxysmal Dystonia
Dystonia, Familial Paroxysmal	Dyt-Prrt2
Dystonia, Type 10

Dubin-Johnson Syndrome

DJS	Chronic Idiopathic Jaundice
Jaundice, Chronic Idiopathic	Hyperbilirubinemia, Dubin-Johnson Type
Hyperbilirubinemia Ii	Hyperbilirubinemia Type 2
Conjugated Hyperbilirubinemia	Dubin-Sprinz Disease
Sprinz-Nelson Syndrome	Hblrdj
Dubin Johnson Syndrome	Hyperbilirubinemia 2
Black Liver-Jaundice Syndrome	Chronic Idiopathic Jaundice With Pigmented Liver
Dubin-Sprinz Syndrome	Hyperbilirubinaemia Type 2
Djs - [Dubin-Johnson Syndrome]

Intracranial Sinus Thrombosis

Sinus Thrombosis, Intracranial

Otomycosis

Singapore Ear

Breast Cancer

Breast Carcinoma	Male Breast Cancer
Breast Cancer, Familial	Malignant Neoplasm Of Breast
Breast Cancer, Susceptibility To	Breast Cancer, Early-Onset
Malignant Tumor Of Breast	Carcinoma Of Male Breast
Breast Cancer, Invasive Ductal	Breast Cancer, Protection Against
Breast Cancer, Somatic	Breast Cancer, Male
Breast Cancer, Lobular, Somatic	Breast Tumor
Mammary Cancer	Mammary Tumor
Malignant Neoplasm Of Male Breast	Mammary Carcinoma
Male Breast Carcinoma	Familial Cancer Of Breast
Invasive Ductal Breast Carcinoma	Breast Cancer Susceptibility
Breast Cancer, Male, Susceptibility To	Breast Cancer, Early-Onset, Susceptibility To
Malignant Tumor Of The Breast	Mammary Neoplasm
Primary Breast Cancer	Neoplasm Of Male Breast
Carcinoma Of Breast	Breast Cancer In Men
Familial Breast Cancer	Cancer Of Breast
BC	Breast Cancer Familial
Breast Cancer Familial Male	Breast Cancer, Familial Male
Breast Male Carcinoma	Breast Neoplasms
Breast Neoplasms, Male	Mammary Tumors
Mammary Carcinomas	Cancer, Breast
Cancer, Breast, Susceptibility	Invasive Breast Ductal Carcinoma
Breast Neoplasm	Susceptibility To Breast Cancer
Mammary Neoplasms	Animal Mammary Neoplasms
Primary Malignant Neoplasm Of Breast	Infiltrating Ductal Carcinoma Of Breast
Infiltrating Duct Carcinoma Of Unspecified Site	Infiltrating Ductular Carcinoma Of Unspecified Site
Invasive Breast Carcinoma Of No Special Type	Microinvasive Carcinoma Of Breast
Carcinoma With Apocrine Differentiation

Bilirubin Metabolic Disorder

Hyperbilirubinemia	Hereditary Hyperbilirubinemia
Hyperbilirubinemia, Hereditary	Hyperbilirubinaemia

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ABCC11 - ATP binding cassette subfamily C member 11 Gene

关于 ABCC11

功能概要

ABCC11 基因产物(5)

ABCC11 蛋白结构

关联疾病

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ABCC11 - ATP binding cassette subfamily C member 11 Gene

关于 ABCC11

功能概要

ABCC11 基因产物(5)

ABCC11 蛋白结构

关联疾病

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热门区域

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