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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96J66: Variant p.Gly180Arg

ATP-binding cassette sub-family C member 11
Gene: ABCC11
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Variant information Variant position: help 180
Type of variant: help LB/B
Residue change: help From Glycine (G) to Arginine (R) at position 180 (G180R, p.Gly180Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Polymorphism: help Variations in ABCC11 gene may affect apocrine gland secretion, which determines earwax type, axillary osmidrosis, and colostrum secretion [MIM:117800] (PubMed:16444273). The wet, cerumen-containing earwax type is a dominant trait, while the dry type, characterized by the lack of oily components, is recessive. The dry type is frequently observed (80-95%) among East Asians, but is uncommon (0-3%) in populations of European and African origins. Intermediate frequencies (30-50%) are seen in populations of Southern Asia, the Pacific Islands, Central Asia and Asia Minor, as well as among the Native North Americans and Inuit. The variant p.Gly180Arg is associated with dry earwax phenotype and lack of axillary odor (PubMed:16444273, PubMed:19383836, PubMed:19710689). It has been suggested that the selective advantage of variant p.Gly180Arg might be related to an adaptation to a cold climate (PubMed:20937735).
Variant description: help Found in individuals with dry earwax and no axillary odor; loss of ATP-dependent cGMP transport activity; loss of DHEAS transport and largely reduced estrone 3-sulfate transport; strong decrease in localization at the plasma membrane; decreased protein expression levels, due to proteasomal degradation; decreased N-glycosylation.
Other resources: help


Sequence information Variant position: help 180
Protein sequence length: help 1382
Location on the sequence: help RTRLIFDALLGICFCIASVL G PILIIPKILEYSEEQLGNVV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1382 ATP-binding cassette sub-family C member 11
Transmembrane 164 – 184 Helical; Name=1
Domain 164 – 443 ABC transmembrane type-1 1
Mutagenesis 180 – 180 G -> AP. Does not affect N-glycosylation.
Mutagenesis 180 – 180 G -> HDEK. Loss of N-glycosylation.



Literature citations
A SNP in the ABCC11 gene is the determinant of human earwax type.
Yoshiura K.; Kinoshita A.; Ishida T.; Ninokata A.; Ishikawa T.; Kaname T.; Bannai M.; Tokunaga K.; Sonoda S.; Komaki R.; Ihara M.; Saenko V.A.; Alipov G.K.; Sekine I.; Komatsu K.; Takahashi H.; Nakashima M.; Sosonkina N.; Mapendano C.K.; Ghadami M.; Nomura M.; Liang D.-S.; Miwa N.; Kim D.-K.; Garidkhuu A.; Natsume N.; Ohta T.; Tomita H.; Kaneko A.; Kikuchi M.; Russomando G.; Hirayama K.; Ishibashi M.; Takahashi A.; Saitou N.; Murray J.C.; Saito S.; Nakamura Y.; Niikawa N.;
Nat. Genet. 38:324-330(2006)
Cited for: POLYMORPHISM; VARIANTS ARG-180 AND 1313-ASP--ARG-1321 DEL; CHARACTERIZATION OF VARIANT ARG-180; FUNCTION IN SECRETION OF EARWAX; Earwax, osmidrosis, and breast cancer: why does one SNP (538G>A) in the human ABC transporter ABCC11 gene determine earwax type?
Toyoda Y.; Sakurai A.; Mitani Y.; Nakashima M.; Yoshiura K.; Nakagawa H.; Sakai Y.; Ota I.; Lezhava A.; Hayashizaki Y.; Niikawa N.; Ishikawa T.;
FASEB J. 23:2001-2013(2009)
Cited for: VARIANT ARG-180; CHARACTERIZATION OF VARIANTS HIS-19; ARG-180; GLU-317; MET-546; TRP-630; ILE-648; ILE-687; ARG-735; VAL-970; 1313-ASP--ARG-1321 DEL AND ARG-1344; FUNCTION; SUBCELLULAR LOCATION; TOPOLOGY; TISSUE SPECIFICITY; GLYCOSYLATION AT ASN-838 AND ASN-844; POLYMORPHISM; MUTAGENESIS OF GLY-180; ASN-838 AND ASN-844; A functional ABCC11 allele is essential in the biochemical formation of human axillary odor.
Martin A.; Saathoff M.; Kuhn F.; Max H.; Terstegen L.; Natsch A.;
J. Invest. Dermatol. 130:529-540(2010)
Cited for: VARIANT ARG-180; CHARACTERIZATION OF VARIANT ARG-180; FUNCTION; TISSUE SPECIFICITY; POLYMORPHISM; Functional characterization of common protein variants in the efflux transporter ABCC11 and identification of T546M as functionally damaging variant.
Arlanov R.; Lang T.; Jedlitschky G.; Schaeffeler E.; Ishikawa T.; Schwab M.; Nies A.T.;
Pharmacogenomics J. 16:193-201(2016)
Cited for: CHARACTERIZATION OF VARIANTS HIS-19; ARG-180; GLU-317; MET-546; ILE-648 AND ARG-1344; FUNCTION; SUBCELLULAR LOCATION; CATALYTIC ACTIVITY;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.