Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BYK8: Variant p.Pro2263Leu

3'-5' exoribonuclease HELZ2
Gene: HELZ2
Feedback?
Variant information Variant position: help 2263
Type of variant: help LB/B
Residue change: help From Proline (P) to Leucine (L) at position 2263 (P2263L, p.Pro2263Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Other resources: help


Sequence information Variant position: help 2263
Protein sequence length: help 2896
Location on the sequence: help ENCADINFSCCYLCIRLEGL P APTASPRPGPSSLGPGLNVD
Residue conservation: help 
Human                         ENCADINFSCCYLCIRLEGLPAPTASPRPGPSSLGPGLNVD

Mouse                         EKCINIHFGCCYLCIRLEGLPLPLDSSLPGPSGLGPFLNID
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2896 3'-5' exoribonuclease HELZ2
Motif 2259 – 2263 LXXLL motif 4



Literature citations
Identification of a transcriptionally active peroxisome proliferator-activated receptor alpha-interacting cofactor complex in rat liver and characterization of PRIC285 as a coactivator.
Surapureddi S.; Yu S.; Bu H.; Hashimoto T.; Yeldandi A.V.; Kashireddy P.; Cherkaoui-Malki M.; Qi C.; Zhu Y.-J.; Rao M.S.; Reddy J.K.;
Proc. Natl. Acad. Sci. U.S.A. 99:11836-11841(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS ASN-1035; ARG-1370; LEU-2263 AND GLU-2296; Isolation and characterization of a transcriptional cofactor and its novel isoform that bind the DNA-binding domain of peroxisome proliferator-activated receptor gamma.
Tomaru T.; Satoh T.; Yoshino S.; Ishizuka T.; Hashimoto K.; Monden T.; Yamada M.; Mori M.;
Endocrinology 147:377-388(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); NUCLEOTIDE SEQUENCE [MRNA] OF 225-2896 (ISOFORM 1); FUNCTION; INTERACTION WITH PPARG; TISSUE SPECIFICITY; DOMAIN; VARIANTS ASN-1035; ARG-1370; LEU-2263 AND GLU-2296; Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Nagase T.; Kikuno R.; Hattori A.; Kondo Y.; Okumura K.; Ohara O.;
DNA Res. 7:347-355(2000)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2); VARIANTS ASN-1035; ARG-1370; LEU-2263 AND GLU-2296;
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.