HPS5

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

blood coagulation Source: Ensembl
organelle organization Source: Ensembl
pigmentation Source: Ensembl

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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 11

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000110756.17
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:17022 HPS5
MIMⁱ	607521 gene
neXtProtⁱ	NX_Q9UPZ3

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.

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Natural variantⁱVAR_062285	624	L → R in HPS5. 1 PublicationCorresponds to variant dbSNP:rs281865102EnsemblClinVar.		1
Natural variantⁱVAR_062286	1098	T → I in HPS5. 1 PublicationCorresponds to variant dbSNP:rs61884288EnsemblClinVar.		1

Keywords - Diseaseⁱ

Albinism, Disease mutation, Hermansky-Pudlak syndrome

Organism-specific databases

DisGeNET More...DisGeNETⁱ	11234
GeneReviewsⁱ	HPS5
MalaCards human disease database More...MalaCardsⁱ	HPS5
MIMⁱ	614074 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000110756
Orphanetⁱ	231512 Hermansky-Pudlak syndrome without pulmonary fibrosis
PharmGKBⁱ	PA38432

Polymorphism and mutation databases

BioMutaⁱ	HPS5
DMDMⁱ	29429222

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000084054	1 – 1129	Hermansky-Pudlak syndrome 5 proteinAdd BLAST		1129

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	532	PhosphoserineCombined sources	1
Modified residueⁱ	534	PhosphoserineCombined sources	1
Modified residueⁱ	695	PhosphoserineCombined sources	1

Keywords - PTMⁱ

Phosphoprotein

Proteomic databases

EPDⁱ	Q9UPZ3
PaxDbⁱ	Q9UPZ3
PeptideAtlas More...PeptideAtlasⁱ	Q9UPZ3
PRIDEⁱ	Q9UPZ3
ProteomicsDBⁱ	85477 85478 [Q9UPZ3-2]

PTM databases

iPTMnetⁱ	Q9UPZ3
PhosphoSitePlusⁱ	Q9UPZ3

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

Bgeeⁱ	ENSG00000110756 Expressed in 213 organ(s), highest expression level in liver
CleanExⁱ	HS_HPS5
ExpressionAtlasⁱ	Q9UPZ3 baseline and differential
Genevisibleⁱ	Q9UPZ3 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

BioGridⁱ	116399, 29 interactors
CORUMⁱ	Q9UPZ3
IntActⁱ	Q9UPZ3, 21 interactors
STRINGⁱ	9606.ENSP00000265967

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	Q9UPZ3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	158 – 163	Poly-Ala		6

Sequence similaritiesⁱ

Belongs to the HPS5 family.Curated

Phylogenomic databases

eggNOGⁱ	KOG3621 Eukaryota ENOG4111FBT LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00530000063527
HOVERGENⁱ	HBG039495
InParanoidⁱ	Q9UPZ3
KEGG Orthology (KO) More...KOⁱ	K20191
OMAⁱ	EYGACFF
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G01HA
PhylomeDBⁱ	Q9UPZ3
TreeFamⁱ	TF323607

Family and domain databases

Gene3Dⁱ	2.130.10.10, 1 hit
InterProⁱ	View protein in InterPro IPR035431 HPS5 IPR015943 WD40/YVTN_repeat-like_dom_sf IPR036322 WD40_repeat_dom_sf
PIRSFⁱ	PIRSF037475 BLOC-2_complex_Hps5, 1 hit
SUPFAMⁱ	SSF50978 SSF50978, 1 hit

Sequences (2+)ⁱ

Sequence statusⁱ: Complete.

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

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.ⁱShow all

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

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

« Hide

        10         20         30         40         50
MYVSSEHKGR RVTALCWDTA ILRVFVGDHA GKVSAIKLNT SKQAKAAAAF 
        60         70         80         90        100
VMFPVQTITT VDSCVVQLDY LDGRLLISSL TRSFLCDTER EKFWKIGNKE 
       110        120        130        140        150
RDGEYGACFF PGRCSGGQQP LIYCARPGSR MWEVNFDGEV ISTHQFKKLL 
       160        170        180        190        200
SLPPLPVITL RSEPQYDHTA GSSQSLSFPK LLHLSEHCVL TWTERGIYIF 
       210        220        230        240        250
IPQNVQVLLW SEVKDIQDVA VCRNELFCLH LNGKVSHLSL ISVERCVERL 
       260        270        280        290        300
LRRGLWNLAA RTCCLFQNSV IASRARKTLT ADKLEHLKSQ LDHGTYNDLI 
       310        320        330        340        350
SQLEELILKF EPLDSACSSR RSSISSHESF SILDSGIYRI ISSRRGSQSD 
       360        370        380        390        400
EDSCSLHSQT LSEDERFKEF TSQQEEDLPD QCCGSHGNED NVSHAPVMFE 
       410        420        430        440        450
TDKNETFLPF GIPLPFRSPS PLVSLQAVKE SVSSFVRKTT EKIGTLHTSP 
       460        470        480        490        500
DLKVRPELRG DEQSCEEDVS SDTCPKEEDT EEEKEVTSPP PEEDRFQELK 
       510        520        530        540        550
VATAEAMTKL QDPLVLFESE SLRMVLQEWL SHLEKTFAMK DFSGVSDTDN 
       560        570        580        590        600
SSMKLNQDVL LVNESKKGIL DEDNEKEKRD SLGNEESVDK TACECVRSPR 
       610        620        630        640        650
ESLDDLFQIC SPCAIASGLR NDLAELTTLC LELNVLNSKI KSTSGHVDHT 
       660        670        680        690        700
LQQYSPEILA CQFLKKYFFL LNLKRAKESI KLSYSNSPSV WDTFIEGLKE 
       710        720        730        740        750
MASSNPVYME MEKGDLPTRL KLLDDEVPFD SPLLVVYATR LYEKFGESAL 
       760        770        780        790        800
RSLIKFFPSI LPSDIIQLCH HHPAEFLAYL DSLVKSRPED QRSSFLESLL 
       810        820        830        840        850
QPESLRLDWL LLAVSLDAPP STSTMDDEGY PRPHSHLLSW GYSQLILHLI 
       860        870        880        890        900
KLPADFITKE KMTDICRSCG FWPGYLILCL ELERRREAFT NIVYLNDMSL 
       910        920        930        940        950
MEGDNGWIPE TVEEWKLLLH LIQSKSTRPA PQESLNGSLS DGPSPINVEN 
       960        970        980        990       1000
VALLLAKAMG PDRAWSLLQE CGLALELSEK FTRTCDILRI AEKRQRALIQ 
      1010 
SMLEKCDRFL WSQQA

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.BLAST Align Show all Add to basket

Entry	Entry name	Protein names	Gene names	Length	Annotation
F5H6Q8	F5H6Q8_HUMAN	Hermansky-Pudlak syndrome 5 protein Hermansky-Pudlak syndrome 5 protein	HPS5	263	Annotation score:
G3V159	G3V159_HUMAN	Hermansky-Pudlak syndrome 5 protein Hermansky-Pudlak syndrome 5 protein (Hermansky-Pudlak syndrome 5, isoform CRA_b)	HPS5 hCG_1784765	400	Annotation score:
F5GWM5	F5GWM5_HUMAN	Hermansky-Pudlak syndrome 5 protein Hermansky-Pudlak syndrome 5 protein	HPS5	160	Annotation score:

Sequence cautionⁱ

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

Experimental Info

Feature key	Position(s)	DescriptionActions	Length
Sequence conflictⁱ	70	L → P in BAF84352 (PubMed:14702039).Curated	1
Sequence conflictⁱ	588	C → R in BAF85125 (PubMed:14702039).Curated	1
Sequence conflictⁱ	1016	E → K in AAH33640 (PubMed:14702039).Curated	1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_015513	417	L → M2 PublicationsCorresponds to variant dbSNP:rs7128017EnsemblClinVar.	1
Natural variantⁱVAR_062285	624	L → R in HPS5. 1 PublicationCorresponds to variant dbSNP:rs281865102EnsemblClinVar.	1
Natural variantⁱVAR_062286	1098	T → I in HPS5. 1 PublicationCorresponds to variant dbSNP:rs61884288EnsemblClinVar.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_007035	1 – 114	Missing in isoform 2. 4 PublicationsAdd BLAST		114

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
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS7836.1 [Q9UPZ3-1] CCDS7837.1 [Q9UPZ3-2]
NCBI Reference Sequences More...RefSeqⁱ	NP_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]
UniGeneⁱ	Hs.437599

Genome annotation databases

Ensemblⁱ	ENST00000349215; ENSP00000265967; ENSG00000110756 [Q9UPZ3-1] ENST00000396253; ENSP00000379552; ENSG00000110756 [Q9UPZ3-2] ENST00000438420; ENSP00000399590; ENSG00000110756 [Q9UPZ3-2]
GeneIDⁱ	11234
KEGGⁱ	hsa:11234
UCSC genome browser More...UCSCⁱ	uc001mod.2 human [Q9UPZ3-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

100% Identity
90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q9UPZ3	Isoform 2 of Hermansky-Pudlak syndrome 5 protein		HUMAN		1015	UniRef90_Q9UPZ3
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2		MACMU		1162
HPS5 isoform 4		PANTR		1129
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2		SAIBB		1129
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2		AOTNA		1129
+73

Protein	Similar proteins		Species	Score	Length	Source
Q9UPZ3	Hermansky-Pudlak syndrome 5 protein homolog		MOUSE		1126	UniRef50_Q9UPZ3
Isoform 2 of Hermansky-Pudlak syndrome 5 protein		HUMAN		1015
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2		MACMU		1162
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2		PANPA		1129
HPS5, biogenesis of lysosomal organelles complex 2 subunit 2		CALJA		1129
+309

Entry informationⁱ

Entry nameⁱ	HPS5_HUMAN
Accessionⁱ	Q9UPZ3Primary (citable) accession number: Q9UPZ3 Secondary accession number(s): A8K6J8 , A8K8S1, D3DQX9, D3DQY0, O95942, Q8N4U0
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	February 21, 2001
	Last sequence update:	March 28, 2003
	Last modified:	September 12, 2018
	This is version 145 of the entry and version 2 of the sequence. See complete history.
Entry statusⁱ	Reviewed (UniProtKB/Swiss-Prot)
Annotation program	Chordata Protein Annotation Program
Disclaimer	Any 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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UniParc

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UniRef

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Supporting data

UniProtKB - Q9UPZ3 (HPS5_HUMAN)

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Hermansky-Pudlak syndrome 5 protein

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Cytosol

Cytosol

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Computationally mapped potential isoform sequencesi

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

Experimental Info

Natural variant

Alternative sequence

Sequence databases

Genome annotation databases

Keywords - Coding sequence diversityi

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

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Functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Computationally mapped potential isoform sequencesⁱ

Sequence cautionⁱ

Keywords - Coding sequence diversityⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ