Gene

BPH1

Species
Saccharomyces cerevisiae
Symbol
BPH1
Name
Beige Protein Homolog
Synonyms
  • YCR032W
Biotype
protein coding gene
Automated Description
Enables small GTPase binding activity. Involved in several processes, including fungal-type cell wall organization; intracellular protein transport; and response to pH. Acts upstream of or within protein lipidation. Located in cytosol. Is active in late endosome. Used to study Chediak-Higashi syndrome. Human ortholog(s) of this gene implicated in Chediak-Higashi syndrome and primary autosomal dominant microcephaly 18. Orthologous to several human genes including WDFY4 (WDFY family member 4).
SGD Description
Endosomal protein involved in endocytosis and autophagy; homologous to Chediak-Higashi syndrome and Beige proteins, both of which are implicated in disease syndromes in human and mouse, respectively, due to defective lysosomal trafficking; mutant phenotype and genetic interactions suggest a role in protein sorting
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR13743:SF123
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
Other Sources
None

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
R64-5-1
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180k181k182k183k184k185k186k

Sequence Details

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Expression

Primary Sources
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions