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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

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
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

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
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, 28 interactors
CORUMiQ9UPZ3
IntActiQ9UPZ3, 20 interactors
STRINGi9606.ENSP00000265967

Structurei

3D structure databases

ProteinModelPortaliQ9UPZ3
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
OMAiEYGACFF
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

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

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

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: March 28, 2018
This is version 142 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

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