ABCC12

ABCC12
Identifiers
Aliases	ABCC12 , MRP9, ATP binding cassette subfamily C member 12
External IDs	OMIM: 607041; MGI: 2441679; HomoloGene: 57211; GeneCards: ABCC12; OMA:ABCC12 - orthologs
Gene location (Human) Chr. Chromosome 16 (human) [1] Band 16q12.1 Start 48,081,006 bp [1] End 48,156,018 bp [1]
Gene location (Mouse) Chr. Chromosome 8 (mouse) [2] Band 8 C3|8 42.06 cM Start 87,208,889 bp [2] End 87,307,315 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad left testis right testis testicle right frontal lobe prefrontal cortex Brodmann area 9 anterior cingulate cortex muscle of thigh primary visual cortex Top expressed in spermatocyte seminiferous tubule spermatid Leydig cell seminal vesicula lumbar subsegment of spinal cord embryo Sertoli cell striatum of neuraxis cerebellum More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding ATPase activity ATP binding ATPase-coupled transmembrane transporter activity Cellular component integral component of membrane membrane Biological process transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 94160 244562 Ensembl ENSG00000140798 ENSMUSG00000036872 UniProt Q96J65 Q80WJ6 RefSeq (mRNA) NM_145190 NM_033226 NM_145187 NM_145188 NM_145189 NM_172912 RefSeq (protein) NP_150229 NP_766500 Location (UCSC) Chr 16: 48.08 – 48.16 Mb Chr 8: 87.21 – 87.31 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Multidrug resistance-associated protein 9 is a protein that in humans is encoded by the ABCC12 gene. ^{[5] [6] [7]}

Function

This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. ^[7] Loss of function is implicated in hereditary cholestasis.

References

1. GRCh38: Ensembl release 89: ENSG00000140798 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000036872 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Dean M, Rzhetsky A, Allikmets R (Jul 2001). "The human ATP-binding cassette (ABC) transporter superfamily". Genome Res. 11 (7): 1156–66. doi: 10.1101/gr.184901 . PMID   11435397. S2CID   9528197.
6. Tammur J, Prades C, Arnould I, Rzhetsky A, Hutchinson A, Adachi M, et al. (Aug 2001). "Two new genes from the human ATP-binding cassette transporter superfamily, ABCC11 and ABCC12, tandemly duplicated on chromosome 16q12". Gene. 273 (1): 89–96. doi:10.1016/S0378-1119(01)00572-8. PMID   11483364.
7. "Entrez Gene: ABCC12 ATP-binding cassette, sub-family C (CFTR/MRP), member 12".

External links

• Human ABCC12 genome location and ABCC12 gene details page in the UCSC Genome Browser .

Adding link to ABCC12 gene details page and display in UCSC genome browser.

Further reading

• Haimeur A, Conseil G, Deeley RG, Cole SP (2004). "The MRP-related and BCRP/ABCG2 multidrug resistance proteins: biology, substrate specificity and regulation". Curr. Drug Metab. 5 (1): 21–53. doi:10.2174/1389200043489199. PMID   14965249.
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC   1356129 . PMID   16344560.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Mammalian Gene Collection Program Team, Strausberg RL, Feingold EA, Grouse LH, Derge JG, Klausner RD, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proceedings of the National Academy of Sciences . 99 (26): 16899–16903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Bera TK, Iavarone C, Kumar V, et al. (2002). "MRP9, an unusual truncated member of the ABC transporter superfamily, is highly expressed in breast cancer". Proc. Natl. Acad. Sci. U.S.A. 99 (10): 6997–7002. Bibcode:2002PNAS...99.6997B. doi: 10.1073/pnas.102187299 . PMC   124517 . PMID   12011458.
• Yabuuchi H, Shimizu H, Takayanagi S, Ishikawa T (2001). "Multiple splicing variants of two new human ATP-binding cassette transporters, ABCC11 and ABCC12". Biochem. Biophys. Res. Commun. 288 (4): 933–9. doi:10.1006/bbrc.2001.5865. PMID   11688999.