Homo sapiens Gene: HPS4

Summary
InnateDB Gene IDBG-3138.5
Last Modified 2012-02-14   [Report errors or provide feedback]
Gene Symbol HPS4
Gene Name Hermansky-Pudlak syndrome 4
Synonyms LE
Species Homo sapiens
Ensembl Gene ENSG00000100099
Encoded Proteins
IDBP-3140 Hermansky-Pudlak syndrome 4
IDBP-233725 Hermansky-Pudlak syndrome 4
IDBP-233727 Hermansky-Pudlak syndrome 4
IDBP-294889 Hermansky-Pudlak syndrome 4
IDBP-368671 Hermansky-Pudlak syndrome 4
IDBP-368675 Hermansky-Pudlak syndrome 4
IDBP-368677 Hermansky-Pudlak syndrome 4
IDBP-481702 Hermansky-Pudlak syndrome 4
Entrez Gene
Summary This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 22: 26839389-26879803
Strand Reverse strand
Band q12.1
Transcripts
ENST00000336873  ENSP00000338457
ENST00000398145  ENSP00000381213
ENST00000398141  ENSP00000381210
ENST00000402105  ENSP00000384185
ENST00000439453  ENSP00000406764
ENST00000429411  ENSP00000399705
ENST00000422379  ENSP00000415081
ENST00000519774 
ENST00000493455 
ENST00000491142 
ENST00000464362  ENSP00000430291
ENST00000466781 
ENST00000496385 
ENST00000485842 
ENST00000459918 
ENST00000481910 
ENST00000483631 
ENST00000479064 
ENST00000473782 
Interactions
Number of Interactions   This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein‑Protein  3
[view]
Protein‑DNA 0
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Predicted by orthology
Total [view]
Gene Ontology
Accession GO Term
Molecular Function
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
GO:0046983 protein dimerization activity
Biological Process
GO:0006605 protein targeting
GO:0006996 organelle organization
GO:0007040 lysosome organization
GO:0007596 blood coagulation
GO:0007599 hemostasis
GO:0030318 melanocyte differentiation
GO:0048075 positive regulation of eye pigmentation
GO:0050821 protein stabilization
Cellular Component
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0016020 membrane
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0042470 melanosome
GO:0042827 platelet dense granule
Orthologs
Species
Mus musculus
Bos taurus
Gene ID Gene Order Method Confidence Comments
ENSMUSG00000042328 Ortholuge SSD Ortholog Ortholog supports species divergence
ENSBTAG00000017038 Not yet available Ortholuge SSD Ortholog Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9NQG7 
TrEMBL E5RG08 F1LLU8 F8VYA9 F8WC53
UniProt Splice Variant
Entrez Gene 89781 
UniGene Hs.474436
RefSeq NM_022081  NM_152841 
HUGO 15844 
OMIM 606682
CCDS CCDS13835  CCDS46677 
HPRD 05983
IMGT
EMBL AB051454 AK057648 AL365512 AL713795 AY043416 BC035614 Z99714
GenPept AAK95330  BAB33337  BAB71540  CAB97208  CAD28549  CAI17880  CAQ09361 
ImmGen HPS4 (murine) 
RNA Seq Atlas 89781