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

ABCC5 - ATP binding cassette subfamily C member 5 Gene

Homo sapiens

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

Gene ID: 10057 | Gene type: protein coding

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 Reference Source
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 Reference Source
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 Reference Source
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_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)

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  • 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

Related Diseases

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

Orthologs Information

Species Symbol Source 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