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HPS5 (Hermansky-Pudlak syndrome 5)

Identity

Other namesAIBP63
HGNC (Hugo) HPS5
LocusID (NCBI) 11234
Location 11p15.1
Location_base_pair Starts at 18300217 and ends at 18343721 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)HPS5   17022
Cards
Entrez_Gene (NCBI)HPS5  11234  Hermansky-Pudlak syndrome 5
GeneCards (Weizmann)HPS5
Ensembl (Hinxton)ENSG00000110756 [Gene_View]  chr11:18300217-18343721 [Contig_View]  HPS5 [Vega]
ICGC DataPortalENSG00000110756
cBioPortalHPS5
AceView (NCBI)HPS5
Genatlas (Paris)HPS5
WikiGenes11234
SOURCE (Princeton)NM_007216 NM_181507 NM_181508
Genomic and cartography
GoldenPath (UCSC)HPS5  -  11p15.1   chr11:18300217-18343721 -  11p15.1   [Description]    (hg19-Feb_2009)
EnsemblHPS5 - 11p15.1 [CytoView]
Mapping of homologs : NCBIHPS5 [Mapview]
OMIM607521   614074   
Gene and transcription
Genbank (Entrez)AA886415 AB023234 AF534400 AF534401 AF534402
RefSeq transcript (Entrez)NM_007216 NM_181507 NM_181508
RefSeq genomic (Entrez)AC_000143 NC_000011 NC_018922 NG_008877 NT_009237 NW_001838022 NW_004929378
Consensus coding sequences : CCDS (NCBI)HPS5
Cluster EST : UnigeneHs.437599 [ NCBI ]
CGAP (NCI)Hs.437599
Alternative Splicing : Fast-db (Paris)GSHG0005632
Alternative Splicing GalleryENSG00000110756
Gene ExpressionHPS5 [ NCBI-GEO ]     HPS5 [ SEEK ]   HPS5 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UPZ3 (Uniprot)
NextProtQ9UPZ3  [Medical]
With graphics : InterProQ9UPZ3
Splice isoforms : SwissVarQ9UPZ3 (Swissvar)
Domains : Interpro (EBI)BLOC-2_complex_Hps5_subunit [organisation]   WD40/YVTN_repeat-like_dom [organisation]   WD40_repeat_dom [organisation]  
Related proteins : CluSTrQ9UPZ3
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations11234
Blocks (Seattle)Q9UPZ3
Human Protein AtlasENSG00000110756 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasQ9UPZ3
HPRD07395
IPIIPI00010486   IPI00219602   IPI00980409   IPI01013151   IPI01015693   
Protein Interaction databases
DIP (DOE-UCLA)Q9UPZ3
IntAct (EBI)Q9UPZ3
FunCoupENSG00000110756
BioGRIDHPS5
InParanoidQ9UPZ3
Interologous Interaction database Q9UPZ3
IntegromeDBHPS5
STRING (EMBL)HPS5
Ontologies - Pathways
Ontology : AmiGOorganelle organization  blood coagulation  BLOC-2 complex  pigmentation  
Ontology : EGO-EBIorganelle organization  blood coagulation  BLOC-2 complex  pigmentation  
Protein Interaction DatabaseHPS5
Wikipedia pathwaysHPS5
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)HPS5
snp3D : Map Gene to Disease11234
SNP (GeneSNP Utah)HPS5
SNP : HGBaseHPS5
Genetic variants : HAPMAPHPS5
Exome VariantHPS5
1000_GenomesHPS5 
ICGC programENSG00000110756 
Somatic Mutations in Cancer : COSMICHPS5 
CONAN: Copy Number AnalysisHPS5 
Mutations and Diseases : HGMDHPS5
Mutations and Diseases : intOGenHPS5
Genomic VariantsHPS5  HPS5 [DGVbeta]
dbVarHPS5
ClinVarHPS5
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM607521    614074   
MedgenHPS5
GENETestsHPS5
Disease Genetic AssociationHPS5
Huge Navigator HPS5 [HugePedia]  HPS5 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneHPS5
Homology/Alignments : Family Browser (UCSC)HPS5
Phylogenetic Trees/Animal Genes : TreeFamHPS5
Chemical/Protein Interactions : CTD11234
Chemical/Pharm GKB GenePA38432
Clinical trialHPS5
Cancer Resource (Charite)ENSG00000110756
Other databases
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
CoreMineHPS5
iHOPHPS5
OncoSearchHPS5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Aug 26 16:49:57 CEST 2014

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