Gene Loss

Reference Gene

Gene name	Alias	Species	Exons	Type	Paralogs	EC number	OMIM
ABCC11 ATP binding cassette subfamily C member 11	WW , EWWD , MRP8	Homo sapiens	39	protein-coding	ABCC10 , CFTR , ABCC4 , ABCC12 , ABCC5 , ABCC8 , ABCC9 , ABCC6 , ABCC1 , ABCC2 , ABCC3	7.6.2.2 , 7.6.2.3	607040

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 ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]

GeneOntology

Function (1)

Go ID	Value	Evidence
0015432	enables ABC-type bile acid transporter activity	IDA

Component (7)

Go ID	Value	Evidence
0016324	located_in apical plasma membrane	IDA
0030659	located_in cytoplasmic vesicle membrane	IEA
0070062	located_in extracellular exosome	HDA
0005886	is_active_in plasma membrane	IBA
0005886	located_in plasma membrane	IDA
0005886	located_in plasma membrane	TAS
0005774	located_in vacuolar membrane	IEA

Process (9)

Go ID	Value	Evidence
0015721	involved_in bile acid and bile salt transport	IDA
0071716	involved_in leukotriene transport	IDA
0098656	involved_in monoatomic anion transmembrane transport	IEA
0015711	involved_in organic anion transport	IBA
0015711	involved_in organic anion transport	IDA
0015865	involved_in purine nucleotide transport	IDA
0055085	involved_in transmembrane transport	IBA
0055085	involved_in transmembrane transport	TAS
0042908	involved_in xenobiotic transport	IDA

Gene Loss events - ABCC11 (8 results)

GL_ID	Species	Order	Gene Loss Mechanism	Loss Type	Lineage Specific	Citation
GL_8HWDMJ	Delphinapterus leucas	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.02.057
GL_DAZSJW	Tursiops truncatus	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.02.057
GL_GMMVVY	Lipotes vexillifer	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.02.057
GL_HZUG3K	Hexaprotodon liberiensis	Artiodactyla	LOF (frameshift, premature stop, ss)	Full		10.1016/j.cub.2021.02.057
GL_KUSHID	Balaena mysticetus	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.02.057
GL_P1V2TS	Balaenoptera acutorostrata	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.02.057
GL_QYFYGR	Physeter catodon	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.02.057
GL_VUFL0R	Orcinus orca	Artiodactyla	LOF (frameshift, premature stop, ss)	Full	Cetacea	10.1016/j.cub.2021.02.057