1. Gene
  2. ABCC5 - ATP binding cassette subfamily C member 5 Gene

ABCC5 - ATP binding cassette subfamily C member 5 Gene

中文名称:ATP 结合盒亚家族 C 成员 5

种属: Homo sapiens

同用名: MRP5; SMRP; ABC33; MOATC; MOAT-C; pABC11; EST277145

基因 ID: 10057 | 基因类型: protein coding

关于 ABCC5

Cytogenetic location: 3q27.1 Genomic coordinates (GRCh38): 3:183,919,934-184,017,884 (from NCBI)

This gene has 13 transcripts (splice variants), 216 orthologues and 11 paralogues. Ubiquitous expression in stomach (RPKM 10.1), spleen (RPKM 6.9) and 24 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) 。该蛋白是参与多药耐药性的 MRP 亚家族的成员。这种蛋白质在其底物环核苷酸的细胞输出中发挥作用。这种输出有助于磷酸二酯酶的降解,并可能是环核苷酸的消除途径。研究表明,这种蛋白质对硫嘌呤类抗癌药物、6-巯基嘌呤和硫鸟嘌呤以及抗 HIV 药物 9- (2-phosphonylmethoxyethyl) adenine 具有抗性。这种蛋白质可能与急性淋巴细胞白血病中的硫嘌呤和 HIV 感染患者中的抗逆转录病毒核苷类似物的耐药性有关。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 2 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 protein is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that this protein provides resistance to thiopurine Anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. This protein may be involved in resistance to thiopurines in acute lymphoblastic leukemia and antiretroviral nucleoside analogs in HIV-infected patients. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

ABCC5 基因产物(3)

mRNA Protein Name
NM_001023587.3 NP_001018881.1 ATP-binding cassette sub-family C member 5 isoform 2
NM_001320032.2 NP_001306961.1 ATP-binding cassette sub-family C member 5 isoform 3
NM_005688.4 NP_005679.2 ATP-binding cassette sub-family C member 5 isoform 1
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 xenobiotic transporter activity IMP
IMP: 通过突变表型推断
12695538 GOA
enables efflux transmembrane transporter activity IDA
IDA: 通过直接分析推断
10840050 GOA
enables glutathione transmembrane transporter activity IDA
IDA: 通过直接分析推断
10840050 GOA
enables heme transmembrane transporter activity IMP
IMP: 通过突变表型推断
24836561 GOA
enables purine nucleotide transmembrane transporter activity IDA
IDA: 通过直接分析推断
10840050 GOA
enables xenobiotic transmembrane transporter activity IDA
IDA: 通过直接分析推断
10840050 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cAMP transport IMP
IMP: 通过突变表型推断
10893247 GOA
involved in cGMP transport IMP
IMP: 通过突变表型推断
10893247 GOA
involved in export across plasma membrane IDA
IDA: 通过直接分析推断
10840050 GOA
involved in folate transmembrane transport IMP
IMP: 通过突变表型推断
15899835 GOA
involved in glutathione transmembrane transport IDA
IDA: 通过直接分析推断
10840050 GOA
involved in heme transmembrane transport IMP
IMP: 通过突变表型推断
24836561 GOA
involved in purine nucleotide transport IDA
IDA: 通过直接分析推断
10840050 GOA
involved in xenobiotic transport IDA
IDA: 通过直接分析推断
10840050 GOA
involved in xenobiotic transport IMP
IMP: 通过突变表型推断
12695538 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
15501592 GOA
located in basolateral plasma membrane IDA
IDA: 通过直接分析推断
10840050 GOA
located in membrane IDA
IDA: 通过直接分析推断
15297306 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
18619525 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

ABCC5 蛋白结构

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (179 - 447)

ABC_tran

ABC_tran: ABC transporter (578 - 712)

ABC_membrane

ABC_membrane: ABC transporter transmembrane region (862 - 1145)

ABC_tran

ABC_tran: ABC transporter (1210 - 1358)

  • 0
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  • 1200
  • 1437 a.a.
蛋白主名 其他名称

ATP-binding cassette sub-family C member 5

ATP-binding cassette, sub-family C (CFTR/MRP), member 5

关联疾病

疾病名称 别名
Arteriovenous Malformation

Arteriovenous Malformations

Arteriovenous Hemangioma

Cirsoid Aneurysm

Racemose Aneurysm

Racemose Angioma

Racemose Hemangioma

Congenital Arteriovenous Malformation

Primary Angle-Closure Glaucoma

Primary Angle Closure Glaucoma

Angle Closure Glaucoma

Acg - [Angle Closure Glaucoma]

Angle-Closure Glaucoma

Closed Angle Glaucoma

Acute Glaucoma

Prodromal Angle Closure Glaucoma

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]

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

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia

ALL

Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma

All1

Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3

ALL3

Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Bilirubin Metabolic Disorder

Hyperbilirubinemia

Hereditary Hyperbilirubinemia

Hyperbilirubinemia, Hereditary

Hyperbilirubinaemia

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

直系同源

种属 基因名 来源 基因 ID
Felis catus ABCC5 VGNC VGNC:97335
Canis familiaris ABCC5 VGNC VGNC:37442
Bos taurus ABCC5 VGNC VGNC:25474
Rattus norvegicus ABCC5 RGD RGD:70913
Macaca mulatta ABCC5 VGNC VGNC:69574
Mus musculus ABCC5 MGD MGI:1351644
Others ABCC5 NCBI