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Gene Ontology Classifications
Symbol
Name
ID
Hps6
Hermansky-Pudlak syndrome 6
MGI:2181763

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Hps6. (This text reflects annotations as of Thursday, July 24, 2014.)
Summary from NCBI RefSeq


[Summary is not available for the mouse gene. This summary is for the human ortholog.] This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text for additional MGI annotations
References
  1. Gwynn B et al. (2004) Reduced pigmentation (rp), a mouse model of Hermansky-Pudlak syndrome, encodes a novel component of the BLOC-1 complex. Blood, 104:3181-9. (PubMed:15265785)
  2. Markert CL et al. (1956) The Effects of Genotype and Cell Environment on Melanoblast Differentiation in the House Mouse. Genetics, 41:429-50. (PubMed:17247639)
  3. Mayerhofer A et al. (1991) Presence and localization of a 30-kDa basic fibroblast growth factor-like protein in rodent testes. Endocrinology, 129:921-4. (PubMed:1855483)
  4. Moore KJ et al. (1990) Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations [published erratum appears in Genetics 1990 Sep;126(1):285] Genetics, 125:421-30. (PubMed:2379821)
  5. Novak EK et al. (1984) Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci. Blood, 63:536-44. (PubMed:6696991)
  6. Zhang Q et al. (2003) Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet, 33:145-53. (PubMed:12548288)



Go Annotations in Tabular Form (Text View) (GO Graph)

 
 


Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IMP Inferred from mutant phenotype
  IPI Inferred from physical interaction
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
09/02/2014
MGI 5.19
The Jackson Laboratory