UniProtKB/Swiss-Prot Q92560: Variant p.Gly178Val

Ubiquitin carboxyl-terminal hydrolase BAP1
Gene: BAP1
Chromosomal location: 3p21.3
Variant information

Variant position:  178
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glycine (G) to Valine (V) at position 178 (G178V, p.Gly178Val).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from glycine (G) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In a lung cancer sample; induces cytoplasmic accumulation; impairs deubiquitinase activity; upregulates heat shock response; induces formation of beta-amyloid aggregates.
Any additional useful information about the variant.



Sequence information

Variant position:  178
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  729
The length of the canonical sequence.

Location on the sequence:   GLSAVRTMEAFHFVSYVPIT  G RLFELDGLKVYPIDHGPWGE
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 729 Ubiquitin carboxyl-terminal hydrolase BAP1
Active site 169 – 169 Proton donor
Site 184 – 184 Important for enzyme activity


Literature citations

Defining biochemical functions for the BRCA1 tumor suppressor protein: analysis of the BRCA1 binding protein BAP1.
Jensen D.E.; Rauscher F.J. III;
Cancer Lett. 143:S13-S17(1999)
Cited for: VARIANTS ASP-95 AND VAL-178;

BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization.
Ventii K.H.; Devi N.S.; Friedrich K.L.; Chernova T.A.; Tighiouart M.; Van Meir E.G.; Wilkinson K.D.;
Cancer Res. 68:6953-6962(2008)
Cited for: FUNCTION; SUBCELLULAR LOCATION; NUCLEAR LOCALIZATION SIGNAL; MUTAGENESIS OF CYS-91; 656-LYS--ARG-661 AND 717-ARG--ARG-722; CHARACTERIZATION OF VARIANTS ASP-95 AND VAL-178;

Cancer associated missense mutations in BAP1 catalytic domain induce amyloidogenic aggregation: A new insight in enzymatic inactivation.
Bhattacharya S.; Hanpude P.; Maiti T.K.;
Sci. Rep. 5:18462-18462(2015)
Cited for: CHARACTERIZATION OF VARIANTS PHE-47; VAL-81; ASP-95 AND VAL-178;

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.