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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14498: Variant p.Ala2Val

RNA-binding protein 39
Gene: RBM39
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Variant information Variant position: help 2
Type of variant: help LB/B
Residue change: help From Alanine (A) to Valine (V) at position 2 (A2V, p.Ala2Val).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 2
Protein sequence length: help 530
Location on the sequence: help M A DDIDIEAMLEAPYKKDENKL
Residue conservation: help 
Human                         MADDIDIEAMLEAPYKKDENKL

Mouse                         MADDIDIEAMLEAPYKKDENKL
Sequence annotation in neighborhood: help
TypePositionsDescription
Initiator methionine 1 – 1 Removed
Chain 2 – 530 RNA-binding protein 39
Region 1 – 146 Disordered
Modified residue 2 – 2 N-acetylalanine



Literature citations
Selective degradation of splicing factor CAPERalpha by anticancer sulfonamides.
Uehara T.; Minoshima Y.; Sagane K.; Sugi N.H.; Mitsuhashi K.O.; Yamamoto N.; Kamiyama H.; Takahashi K.; Kotake Y.; Uesugi M.; Yokoi A.; Inoue A.; Yoshida T.; Mabuchi M.; Tanaka A.; Owa T.;
Nat. Chem. Biol. 13:675-680(2017)
Cited for: FUNCTION; UBIQUITINATION; VARIANT VAL-268; CHARACTERIZATION OF VARIANT VAL-268; Anticancer sulfonamides target splicing by inducing RBM39 degradation via recruitment to DCAF15.
Han T.; Goralski M.; Gaskill N.; Capota E.; Kim J.; Ting T.C.; Xie Y.; Williams N.S.; Nijhawan D.;
Science 356:0-0(2017)
Cited for: FUNCTION; UBIQUITINATION; VARIANTS LEU-265; ARG-268; GLU-268; TRP-268; VAL-268; GLN-271; GLY-271 AND SER-272; CHARACTERIZATION OF VARIANTS LEU-265; ARG-268; TRP-268; VAL-268; GLN-271 AND SER-272; Structural basis of indisulam-mediated RBM39 recruitment to DCAF15 E3 ligase complex.
Bussiere D.E.; Xie L.; Srinivas H.; Shu W.; Burke A.; Be C.; Zhao J.; Godbole A.; King D.; Karki R.G.; Hornak V.; Xu F.; Cobb J.; Carte N.; Frank A.O.; Frommlet A.; Graff P.; Knapp M.; Fazal A.; Okram B.; Jiang S.; Michellys P.Y.; Beckwith R.; Voshol H.; Wiesmann C.; Solomon J.M.; Paulk J.;
Nat. Chem. Biol. 16:15-23(2020)
Cited for: X-RAY CRYSTALLOGRAPHY (2.30 ANGSTROMS) OF 91-171 IN COMPLEX WITH DCAF15; STRUCTURE BY ELECTRON MICROSCOPY (3.54 ANGSTROMS) IN COMPLEX WITH DCAF15; IDENTIFICATION IN THE DCX(DCAF15) COMPLEX; VARIANTS LEU-265; TRP-268 AND VAL-268; CHARACTERIZATION OF VARIANTS LEU-265; TRP-268 AND VAL-268;
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.