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UniProtKB - Q9UPZ3 (HPS5_HUMAN)

Protein

Hermansky-Pudlak syndrome 5 protein

Gene

HPS5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.2 Publications

GO - Biological processi

View the complete GO annotation on QuickGO ...

Names & Taxonomyi

Protein namesi
Recommended name:
Hermansky-Pudlak syndrome 5 protein
Alternative name(s):
Alpha-integrin-binding protein 63
Ruby-eye protein 2 homolog
Short name:
Ru2
Gene namesi
Name:HPS5
Synonyms:AIBP63, KIAA1017
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

EuPathDBiHostDB:ENSG00000110756.17
HGNCiHGNC:17022 HPS5
MIMi607521 gene
neXtProtiNX_Q9UPZ3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Hermansky-Pudlak syndrome 5 (HPS5)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
See also OMIM:614074
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_062285624L → R in HPS5. 1 PublicationCorresponds to variant dbSNP:rs281865102EnsemblClinVar.1
Natural variantiVAR_0622861098T → I in HPS5. 1 PublicationCorresponds to variant dbSNP:rs61884288EnsemblClinVar.1

Keywords - Diseasei

Albinism, Disease mutation, Hermansky-Pudlak syndrome

Organism-specific databases

DisGeNETi11234
GeneReviewsiHPS5
MalaCardsiHPS5
MIMi614074 phenotype
OpenTargetsiENSG00000110756
Orphaneti231512 Hermansky-Pudlak syndrome without pulmonary fibrosis
PharmGKBiPA38432

Polymorphism and mutation databases

BioMutaiHPS5
DMDMi29429222

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000840541 – 1129Hermansky-Pudlak syndrome 5 proteinAdd BLAST1129

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei532PhosphoserineCombined sources1
Modified residuei534PhosphoserineCombined sources1
Modified residuei695PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9UPZ3
PaxDbiQ9UPZ3
PeptideAtlasiQ9UPZ3
PRIDEiQ9UPZ3
ProteomicsDBi85477
85478 [Q9UPZ3-2]

PTM databases

iPTMnetiQ9UPZ3
PhosphoSitePlusiQ9UPZ3

Expressioni

Tissue specificityi

Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed in placenta, kidney, testis ovary, lung and thymus.1 Publication

Gene expression databases

BgeeiENSG00000110756 Expressed in 213 organ(s), highest expression level in liver
CleanExiHS_HPS5
ExpressionAtlasiQ9UPZ3 baseline and differential
GenevisibleiQ9UPZ3 HS

Interactioni

Subunit structurei

Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Interacts with HPS6 (PubMed:15030569, PubMed:25189619). Interacts with HPS3 (PubMed:15030569). May interact with all alpha-integrin chains that have an aromatic residue before the first lysine of the conserved KXGFFKR motif, including ITGA2, ITGA3, ITGA5 and ITGA6 (PubMed:10094488).3 Publications

Protein-protein interaction databases

BioGridi116399, 29 interactors
CORUMiQ9UPZ3
IntActiQ9UPZ3, 21 interactors
STRINGi9606.ENSP00000265967

Structurei

3D structure databases

ProteinModelPortaliQ9UPZ3
SMRiQ9UPZ3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi158 – 163Poly-Ala6

Sequence similaritiesi

Belongs to the HPS5 family.Curated

Phylogenomic databases

eggNOGiKOG3621 Eukaryota
ENOG4111FBT LUCA
GeneTreeiENSGT00530000063527
HOVERGENiHBG039495
InParanoidiQ9UPZ3
KOiK20191
OMAiVWDTFIE
OrthoDBiEOG091G01HA
PhylomeDBiQ9UPZ3
TreeFamiTF323607

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR035431 HPS5
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf
PIRSFiPIRSF037475 BLOC-2_complex_Hps5, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UPZ3-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAFVPVIPES YSHVLAEFES LDPLLSALRL DSSRLKCTSI AVSRKWLALG 
        60         70         80         90        100
SSGGGLHLIQ KEGWKHRLFL SHREGAISQV ACCLHDDDYV AVATSQGLVV 
       110        120        130        140        150
VWELNQERRG KPEQMYVSSE HKGRRVTALC WDTAILRVFV GDHAGKVSAI 
       160        170        180        190        200
KLNTSKQAKA AAAFVMFPVQ TITTVDSCVV QLDYLDGRLL ISSLTRSFLC 
       210        220        230        240        250
DTEREKFWKI GNKERDGEYG ACFFPGRCSG GQQPLIYCAR PGSRMWEVNF 
       260        270        280        290        300
DGEVISTHQF KKLLSLPPLP VITLRSEPQY DHTAGSSQSL SFPKLLHLSE 
       310        320        330        340        350
HCVLTWTERG IYIFIPQNVQ VLLWSEVKDI QDVAVCRNEL FCLHLNGKVS 
       360        370        380        390        400
HLSLISVERC VERLLRRGLW NLAARTCCLF QNSVIASRAR KTLTADKLEH 
       410        420        430        440        450
LKSQLDHGTY NDLISQLEEL ILKFEPLDSA CSSRRSSISS HESFSILDSG 
       460        470        480        490        500
IYRIISSRRG SQSDEDSCSL HSQTLSEDER FKEFTSQQEE DLPDQCCGSH 
       510        520        530        540        550
GNEDNVSHAP VMFETDKNET FLPFGIPLPF RSPSPLVSLQ AVKESVSSFV 
       560        570        580        590        600
RKTTEKIGTL HTSPDLKVRP ELRGDEQSCE EDVSSDTCPK EEDTEEEKEV 
       610        620        630        640        650
TSPPPEEDRF QELKVATAEA MTKLQDPLVL FESESLRMVL QEWLSHLEKT 
       660        670        680        690        700
FAMKDFSGVS DTDNSSMKLN QDVLLVNESK KGILDEDNEK EKRDSLGNEE 
       710        720        730        740        750
SVDKTACECV RSPRESLDDL FQICSPCAIA SGLRNDLAEL TTLCLELNVL 
       760        770        780        790        800
NSKIKSTSGH VDHTLQQYSP EILACQFLKK YFFLLNLKRA KESIKLSYSN 
       810        820        830        840        850
SPSVWDTFIE GLKEMASSNP VYMEMEKGDL PTRLKLLDDE VPFDSPLLVV 
       860        870        880        890        900
YATRLYEKFG ESALRSLIKF FPSILPSDII QLCHHHPAEF LAYLDSLVKS 
       910        920        930        940        950
RPEDQRSSFL ESLLQPESLR LDWLLLAVSL DAPPSTSTMD DEGYPRPHSH 
       960        970        980        990       1000
LLSWGYSQLI LHLIKLPADF ITKEKMTDIC RSCGFWPGYL ILCLELERRR 
      1010       1020       1030       1040       1050
EAFTNIVYLN DMSLMEGDNG WIPETVEEWK LLLHLIQSKS TRPAPQESLN 
      1060       1070       1080       1090       1100
GSLSDGPSPI NVENVALLLA KAMGPDRAWS LLQECGLALE LSEKFTRTCD 
      1110       1120 
ILRIAEKRQR ALIQSMLEKC DRFLWSQQA
Length:1,129
Mass (Da):127,449
Last modified:March 28, 2003 - v2
Checksum:iC4FBF4EC90D1B8ED
GO
Isoform 2 (identifier: Q9UPZ3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-114: Missing.

Show »
Length:1,015
Mass (Da):114,826
Checksum:iF6A30F048F6519A5
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H6Q8F5H6Q8_HUMAN
Hermansky-Pudlak syndrome 5 protein
HPS5
263Annotation score:
F5GWM5F5GWM5_HUMAN
Hermansky-Pudlak syndrome 5 protein
HPS5
160Annotation score:
G3V159G3V159_HUMAN
Hermansky-Pudlak syndrome 5 protein
HPS5 hCG_1784765
400Annotation score:

Sequence cautioni

The sequence BAA76861 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti70L → P in BAF84352 (PubMed:14702039).Curated1
Sequence conflicti588C → R in BAF85125 (PubMed:14702039).Curated1
Sequence conflicti1016E → K in AAH33640 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015513417L → M2 PublicationsCorresponds to variant dbSNP:rs7128017EnsemblClinVar.1
Natural variantiVAR_062285624L → R in HPS5. 1 PublicationCorresponds to variant dbSNP:rs281865102EnsemblClinVar.1
Natural variantiVAR_0622861098T → I in HPS5. 1 PublicationCorresponds to variant dbSNP:rs61884288EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0070351 – 114Missing in isoform 2. 4 PublicationsAdd BLAST114

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF534400 mRNA Translation: AAO25962.1
AF534401 mRNA Translation: AAO25963.1
AF534402 mRNA Translation: AAO25964.1
AB023234 mRNA Translation: BAA76861.2 Different initiation.
AK291663 mRNA Translation: BAF84352.1
AK292436 mRNA Translation: BAF85125.1
CH471064 Genomic DNA Translation: EAW68402.1
CH471064 Genomic DNA Translation: EAW68404.1
CH471064 Genomic DNA Translation: EAW68405.1
CH471064 Genomic DNA Translation: EAW68406.1
CH471064 Genomic DNA Translation: EAW68407.1
BC033640 mRNA Translation: AAH33640.1
AJ131721 mRNA Translation: CAB38232.1
CCDSiCCDS7836.1 [Q9UPZ3-1]
CCDS7837.1 [Q9UPZ3-2]
RefSeqiNP_009147.3, NM_007216.3 [Q9UPZ3-2]
NP_852608.1, NM_181507.1 [Q9UPZ3-1]
NP_852609.1, NM_181508.1 [Q9UPZ3-2]
XP_016872638.1, XM_017017149.1 [Q9UPZ3-1]
XP_016872639.1, XM_017017150.1 [Q9UPZ3-1]
XP_016872643.1, XM_017017154.1 [Q9UPZ3-2]
UniGeneiHs.437599

Genome annotation databases

EnsembliENST00000349215; ENSP00000265967; ENSG00000110756 [Q9UPZ3-1]
ENST00000396253; ENSP00000379552; ENSG00000110756 [Q9UPZ3-2]
ENST00000438420; ENSP00000399590; ENSG00000110756 [Q9UPZ3-2]
GeneIDi11234
KEGGihsa:11234
UCSCiuc001mod.2 human [Q9UPZ3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF534400 mRNA Translation: AAO25962.1
AF534401 mRNA Translation: AAO25963.1
AF534402 mRNA Translation: AAO25964.1
AB023234 mRNA Translation: BAA76861.2 Different initiation.
AK291663 mRNA Translation: BAF84352.1
AK292436 mRNA Translation: BAF85125.1
CH471064 Genomic DNA Translation: EAW68402.1
CH471064 Genomic DNA Translation: EAW68404.1
CH471064 Genomic DNA Translation: EAW68405.1
CH471064 Genomic DNA Translation: EAW68406.1
CH471064 Genomic DNA Translation: EAW68407.1
BC033640 mRNA Translation: AAH33640.1
AJ131721 mRNA Translation: CAB38232.1
CCDSiCCDS7836.1 [Q9UPZ3-1]
CCDS7837.1 [Q9UPZ3-2]
RefSeqiNP_009147.3, NM_007216.3 [Q9UPZ3-2]
NP_852608.1, NM_181507.1 [Q9UPZ3-1]
NP_852609.1, NM_181508.1 [Q9UPZ3-2]
XP_016872638.1, XM_017017149.1 [Q9UPZ3-1]
XP_016872639.1, XM_017017150.1 [Q9UPZ3-1]
XP_016872643.1, XM_017017154.1 [Q9UPZ3-2]
UniGeneiHs.437599

3D structure databases

ProteinModelPortaliQ9UPZ3
SMRiQ9UPZ3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116399, 29 interactors
CORUMiQ9UPZ3
IntActiQ9UPZ3, 21 interactors
STRINGi9606.ENSP00000265967

PTM databases

iPTMnetiQ9UPZ3
PhosphoSitePlusiQ9UPZ3

Polymorphism and mutation databases

BioMutaiHPS5
DMDMi29429222

Proteomic databases

EPDiQ9UPZ3
PaxDbiQ9UPZ3
PeptideAtlasiQ9UPZ3
PRIDEiQ9UPZ3
ProteomicsDBi85477
85478 [Q9UPZ3-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000349215; ENSP00000265967; ENSG00000110756 [Q9UPZ3-1]
ENST00000396253; ENSP00000379552; ENSG00000110756 [Q9UPZ3-2]
ENST00000438420; ENSP00000399590; ENSG00000110756 [Q9UPZ3-2]
GeneIDi11234
KEGGihsa:11234
UCSCiuc001mod.2 human [Q9UPZ3-1]

Organism-specific databases

CTDi11234
DisGeNETi11234
EuPathDBiHostDB:ENSG00000110756.17
GeneCardsiHPS5
GeneReviewsiHPS5
HGNCiHGNC:17022 HPS5
MalaCardsiHPS5
MIMi607521 gene
614074 phenotype
neXtProtiNX_Q9UPZ3
OpenTargetsiENSG00000110756
Orphaneti231512 Hermansky-Pudlak syndrome without pulmonary fibrosis
PharmGKBiPA38432
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3621 Eukaryota
ENOG4111FBT LUCA
GeneTreeiENSGT00530000063527
HOVERGENiHBG039495
InParanoidiQ9UPZ3
KOiK20191
OMAiVWDTFIE
OrthoDBiEOG091G01HA
PhylomeDBiQ9UPZ3
TreeFamiTF323607

Miscellaneous databases

ChiTaRSiHPS5 human
GeneWikiiHPS5
GenomeRNAii11234
PROiPR:Q9UPZ3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000110756 Expressed in 213 organ(s), highest expression level in liver
CleanExiHS_HPS5
ExpressionAtlasiQ9UPZ3 baseline and differential
GenevisibleiQ9UPZ3 HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR035431 HPS5
IPR015943 WD40/YVTN_repeat-like_dom_sf
IPR036322 WD40_repeat_dom_sf
PIRSFiPIRSF037475 BLOC-2_complex_Hps5, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiHPS5_HUMAN
AccessioniPrimary (citable) accession number: Q9UPZ3
Secondary accession number(s): A8K6J8
, A8K8S1, D3DQX9, D3DQY0, O95942, Q8N4U0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: March 28, 2003
Last modified: November 7, 2018
This is version 146 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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