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ABCC5 - ATP binding cassette subfamily C member 5 Gene

Also Known as MRP5; SMRP; ABC33; MOATC; MOAT-C; pABC11; EST277145

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 10057

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables ABC-type xenobiotic transporter activity	IMP IMP: Inferred from mutant phenotype	12695538	GOA
enables efflux transmembrane transporter activity	IDA IDA: Inferred from direct assay	10840050	GOA
enables glutathione transmembrane transporter activity	IDA IDA: Inferred from direct assay	10840050	GOA
enables heme transmembrane transporter activity	IMP IMP: Inferred from mutant phenotype	24836561	GOA
enables purine nucleotide transmembrane transporter activity	IDA IDA: Inferred from direct assay	10840050	GOA
enables xenobiotic transmembrane transporter activity	IDA IDA: Inferred from direct assay	10840050	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cAMP transport	IMP IMP: Inferred from mutant phenotype	10893247	GOA
involved in cGMP transport	IMP IMP: Inferred from mutant phenotype	10893247	GOA
involved in export across plasma membrane	IDA IDA: Inferred from direct assay	10840050	GOA
involved in folate transmembrane transport	IMP IMP: Inferred from mutant phenotype	15899835	GOA
involved in glutathione transmembrane transport	IDA IDA: Inferred from direct assay	10840050	GOA
involved in heme transmembrane transport	IMP IMP: Inferred from mutant phenotype	24836561	GOA
involved in purine nucleotide transport	IDA IDA: Inferred from direct assay	10840050	GOA
involved in xenobiotic transport	IDA IDA: Inferred from direct assay	10840050	GOA
involved in xenobiotic transport	IMP IMP: Inferred from mutant phenotype	12695538	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in apical plasma membrane	IDA IDA: Inferred from direct assay	15501592	GOA
located in basolateral plasma membrane	IDA IDA: Inferred from direct assay	10840050	GOA
located in membrane	IDA IDA: Inferred from direct assay	15297306	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	18619525	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

ABCC5 Protein Structure

ABC_membrane

ABC_tran

ABC_membrane

ABC_tran

0
300
600
900
1200
1437 a.a.

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

関連疾患

Diseases	Alias
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

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 (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS00064	ABCC5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20844	Abcc5 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27358	Abcc5 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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