Homo sapiens Gene: ABCC5
Summary
InnateDB Gene IDBG-67159.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABCC5
Gene Name ATP-binding cassette, sub-family C (CFTR/MRP), member 5
Synonyms ABC33; EST277145; MOAT-C; MOATC; MRP5; pABC11; SMRP;
Species Homo sapiens
Ensembl Gene ENSG00000114770
Encoded Proteins
ATP-binding cassette, sub-family C (CFTR/MRP), member 5
ATP-binding cassette, sub-family C (CFTR/MRP), member 5
ATP-binding cassette, sub-family C (CFTR/MRP), member 5
ATP-binding cassette, sub-family C (CFTR/MRP), member 5
ATP-binding cassette, sub-family C (CFTR/MRP), member 5
ATP-binding cassette, sub-family C (CFTR/MRP), member 5
ATP-binding cassette, sub-family C (CFTR/MRP), member 5
ATP-binding cassette, sub-family C (CFTR/MRP), member 5
ATP-binding cassette, sub-family C (CFTR/MRP), member 5
ATP-binding cassette, sub-family C (CFTR/MRP), member 5
ATP-binding cassette, sub-family C (CFTR/MRP), member 5
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 of this gene has been detected; however, the complete sequence and translation initiation site is unclear. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:183919934-184018015
Strand Reverse strand
Band q27.1
Transcripts
ENST00000334444 ENSP00000333926
ENST00000265586 ENSP00000265586
ENST00000382494 ENSP00000371934
ENST00000392579 ENSP00000376358
ENST00000437205 ENSP00000403510
ENST00000443497 ENSP00000404302
ENST00000443376 ENSP00000416840
ENST00000438979 ENSP00000409913
ENST00000427120 ENSP00000404809
ENST00000437341 ENSP00000399726
ENST00000446941 ENSP00000390911
ENST00000476402
ENST00000492216
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 5 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005524 ATP binding
GO:0008514 organic anion transmembrane transporter activity
GO:0016887 ATPase activity
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
Biological Process
GO:0005975 carbohydrate metabolic process
GO:0006200 ATP catabolic process
GO:0006810 transport
GO:0015711 organic anion transport
GO:0030203 glycosaminoglycan metabolic process
GO:0030212 hyaluronan metabolic process
GO:0030213 hyaluronan biosynthetic process
GO:0044281 small molecule metabolic process
GO:0055085 transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Mucopolysaccharidoses pathway
Myoclonic epilepsy of Lafora pathway
Defective B4GALT7 causes EDS, progeroid type pathway
Defective CHST6 causes MCDC1 pathway
MPS VI - Maroteaux-Lamy syndrome pathway
ABC-family proteins mediated transport pathway
Defective PAPSS2 causes SEMD-PA pathway
Metabolism of carbohydrates pathway
MPS IIID - Sanfilippo syndrome D pathway
Defective SLC26A2 causes chondrodysplasias pathway
MPS IX - Natowicz syndrome pathway
Defective EXT1 causes exostoses 1, TRPS2 and CHDS pathway
Defective CHST14 causes EDS, musculocontractural type pathway
MPS IV - Morquio syndrome B pathway
Defective B3GAT3 causes JDSSDHD pathway
Defective CHST3 causes SEDCJD pathway
MPS IV - Morquio syndrome A pathway
Defective EXT2 causes exostoses 2 pathway
Diseases associated with glycosaminoglycan metabolism pathway
MPS II - Hunter syndrome pathway
Hyaluronan biosynthesis and export pathway
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) pathway
Glycosaminoglycan metabolism pathway
Diseases of glycosylation pathway
MPS VII - Sly syndrome pathway
Defective CHSY1 causes TPBS pathway
Metabolism pathway
MPS I - Hurler syndrome pathway
MPS IIIA - Sanfilippo syndrome A pathway
Hyaluronan metabolism pathway
MPS IIIC - Sanfilippo syndrome C pathway
Disease pathway
Glycogen storage diseases pathway
MPS IIIB - Sanfilippo syndrome B pathway
KEGG
ABC transporters pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL E9PET4 Q96BR0
UniProt Splice Variant
Entrez Gene 10057
UniGene Hs.368563 Hs.721439
RefSeq NM_005688 NM_001023587 XM_005247059 XM_005247058
HUGO HGNC:56
OMIM 605251
CCDS CCDS43176 CCDS33898
HPRD 06898
IMGT
EMBL AC068644 BC015334
GenPept AAH15334
RNA Seq Atlas 10057