Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01112: Variant p.Gly12Val

GTPase HRas
Gene: HRAS
Feedback?
Variant information Variant position: help 12
Type of variant: help US
Residue change: help From Glycine (G) to Valine (V) at position 12 (G12V, p.Gly12Val).
Physico-chemical properties: help Change from glycine (G) to medium size and hydrophobic (V)
BLOSUM score: help -3
Variant description: help In CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane.
Other resources: help


Sequence information Variant position: help 12
Protein sequence length: help 189
Location on the sequence: help MTEYKLVVVGA G GVGKSALTIQLIQNHFVDEY
Residue conservation: help
Human                         MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEY

Mouse                         MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEY

Rat                           MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEY

Chicken                       MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEY

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 186 GTPase HRas
Initiator methionine 1 – 1 Removed; alternate
Chain 2 – 186 GTPase HRas, N-terminally processed
Modified residue 1 – 1 N-acetylmethionine; in GTPase HRas; alternate
Modified residue 2 – 2 N-acetylthreonine; in GTPase HRas, N-terminally processed
Mutagenesis 17 – 17 S -> N. Dominant negative. Prevents PLCE1 EGF-induced recruitment to plasma membrane. No effect on subcellular location of isoform 2.
Mutagenesis 26 – 26 N -> G. Loss of interaction with PLCE1; when associated with V-12.
Mutagenesis 29 – 29 V -> A. No effect on interaction with PLCE1; when associated with V-12.
Mutagenesis 32 – 32 Y -> F. Loss of interaction and recruitment to plasma membrane of PLCE1; when associated with V-12.
Beta strand 12 – 15



Literature citations
Regulation of a novel human phospholipase C, PLCepsilon, through membrane targeting by Ras.
Song C.; Hu C.-D.; Masago M.; Kariya K.; Yamawaki-Kataoka Y.; Shibatohge M.; Wu D.; Satoh T.; Kataoka T.;
J. Biol. Chem. 276:2752-2757(2001)
Cited for: INTERACTION WITH PLCE1; CHARACTERIZATION OF VARIANT VAL-12; MUTAGENESIS OF SER-17; ASN-26; VAL-29; TYR-32; PRO-34; THR-35; GLU-37; ASP-38 AND SER-39; Dephosphorylation of tau by protein phosphatase 5: impairment in Alzheimer's disease.
Liu F.; Iqbal K.; Grundke-Iqbal I.; Rossie S.; Gong C.X.;
J. Biol. Chem. 280:1790-1796(2005)
Cited for: CHARACTERIZATION OF CSTLO VARIANT VAL-12; Germline mutations in HRAS proto-oncogene cause Costello syndrome.
Aoki Y.; Niihori T.; Kawame H.; Kurosawa K.; Ohashi H.; Tanaka Y.; Filocamo M.; Kato K.; Suzuki Y.; Kure S.; Matsubara Y.;
Nat. Genet. 37:1038-1040(2005)
Cited for: VARIANTS CSTLO ALA-12; SER-12; VAL-12 AND ASP-13; Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of constitutive HRas activation.
van der Burgt I.; Kupsky W.; Stassou S.; Nadroo A.; Barroso C.; Diem A.; Kratz C.P.; Dvorsky R.; Ahmadian M.R.; Zenker M.;
J. Med. Genet. 44:459-462(2007)
Cited for: VARIANTS CMEMS VAL-12; SER-12; LYS-22 AND LYS-63;
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.