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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P22310: Variant p.Leu48Val

UDP-glucuronosyltransferase 1A4
Gene: UGT1A4
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Variant information Variant position: help 48
Type of variant: help LB/B
Residue change: help From Leucine (L) to Valine (V) at position 48 (L48V, p.Leu48Val).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help Increased glucuronosyltransferase activity towards calcidiol.
Other resources: help


Sequence information Variant position: help 48
Protein sequence length: help 534
Location on the sequence: help SGKVLVVPTDGSPWLSMREA L RELHARGHQAVVLTPEVNMH
Residue conservation: help
Human                         SGKVLVVPTDGSPWLSMREALRELHARGHQAVVLTPEVNMH

Rabbit                        GGKVLVVPMDGSPWLSLREVVRDVHARGHQVLVLGPEVTMH

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 29 – 534 UDP-glucuronosyltransferase 1A4



Literature citations
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT VAL-48; Analysis of inherited genetic variations at the UGT1 locus in the French-Canadian population.
Menard V.; Girard H.; Harvey M.; Perusse L.; Guillemette C.;
Hum. Mutat. 30:677-687(2009)
Cited for: VARIANTS THR-24 AND VAL-48; Human UGT1A4 and UGT1A3 conjugate 25-hydroxyvitamin D3: metabolite structure, kinetics, inducibility, and interindividual variability.
Wang Z.; Wong T.; Hashizume T.; Dickmann L.Z.; Scian M.; Koszewski N.J.; Goff J.P.; Horst R.L.; Chaudhry A.S.; Schuetz E.G.; Thummel K.E.;
Endocrinology 155:2052-2063(2014)
Cited for: FUNCTION (ISOFORM 1); CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; VARIANT VAL-48;
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.