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Q9UPZ3 (HPS5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 110. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hermansky-Pudlak syndrome 5 protein
Alternative name(s):
Alpha-integrin-binding protein 63
Ruby-eye protein 2 homolog
Short name=Ru2
Gene names
Name:HPS5
Synonyms:AIBP63, KIAA1017
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1129 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.9 Ref.15

Subunit structure

Component of the biogenesis of lysosome-related organelles complex-2 (or BLOC2) composed of HPS3, HPS5 and HPS6. Directly interacts with HPS6. 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. Ref.7 Ref.8

Subcellular location

Cytoplasmcytosol Ref.8.

Tissue specificity

Widely expressed. Isoform 1:Highlyexpressed in lungs and testis. Isoform 2:Highlyexpressed in placenta, kidney, testis ovary, lung and thymus. Ref.15

Involvement in disease

Hermansky-Pudlak syndrome 5 (HPS5) [MIM:614074]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.15

Sequence similarities

Belongs to the HPS5 family.

Sequence caution

The sequence BAA76861.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UPZ3-1)

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.
Isoform 2 (identifier: Q9UPZ3-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11291129Hermansky-Pudlak syndrome 5 protein
PRO_0000084054

Regions

Compositional bias158 – 1636Poly-Ala

Amino acid modifications

Modified residue5321Phosphoserine Ref.14

Natural variations

Alternative sequence1 – 114114Missing in isoform 2.
VSP_007035
Natural variant4171L → M. Ref.1 Ref.2
Corresponds to variant rs7128017 [ dbSNP | Ensembl ].
VAR_015513
Natural variant6241L → R in HPS5. Ref.15
VAR_062285
Natural variant10981T → I in HPS5. Ref.15
Corresponds to variant rs61884288 [ dbSNP | Ensembl ].
VAR_062286

Experimental info

Sequence conflict701L → P in BAF84352. Ref.4
Sequence conflict5881C → R in BAF85125. Ref.4
Sequence conflict10161E → K in AAH33640. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified March 28, 2003. Version 2.
Checksum: C4FBF4EC90D1B8ED

FASTA1,129127,449
        10         20         30         40         50         60 
MAFVPVIPES YSHVLAEFES LDPLLSALRL DSSRLKCTSI AVSRKWLALG SSGGGLHLIQ 

        70         80         90        100        110        120 
KEGWKHRLFL SHREGAISQV ACCLHDDDYV AVATSQGLVV VWELNQERRG KPEQMYVSSE 

       130        140        150        160        170        180 
HKGRRVTALC WDTAILRVFV GDHAGKVSAI KLNTSKQAKA AAAFVMFPVQ TITTVDSCVV 

       190        200        210        220        230        240 
QLDYLDGRLL ISSLTRSFLC DTEREKFWKI GNKERDGEYG ACFFPGRCSG GQQPLIYCAR 

       250        260        270        280        290        300 
PGSRMWEVNF DGEVISTHQF KKLLSLPPLP VITLRSEPQY DHTAGSSQSL SFPKLLHLSE 

       310        320        330        340        350        360 
HCVLTWTERG IYIFIPQNVQ VLLWSEVKDI QDVAVCRNEL FCLHLNGKVS HLSLISVERC 

       370        380        390        400        410        420 
VERLLRRGLW NLAARTCCLF QNSVIASRAR KTLTADKLEH LKSQLDHGTY NDLISQLEEL 

       430        440        450        460        470        480 
ILKFEPLDSA CSSRRSSISS HESFSILDSG IYRIISSRRG SQSDEDSCSL HSQTLSEDER 

       490        500        510        520        530        540 
FKEFTSQQEE DLPDQCCGSH GNEDNVSHAP VMFETDKNET FLPFGIPLPF RSPSPLVSLQ 

       550        560        570        580        590        600 
AVKESVSSFV RKTTEKIGTL HTSPDLKVRP ELRGDEQSCE EDVSSDTCPK EEDTEEEKEV 

       610        620        630        640        650        660 
TSPPPEEDRF QELKVATAEA MTKLQDPLVL FESESLRMVL QEWLSHLEKT FAMKDFSGVS 

       670        680        690        700        710        720 
DTDNSSMKLN QDVLLVNESK KGILDEDNEK EKRDSLGNEE SVDKTACECV RSPRESLDDL 

       730        740        750        760        770        780 
FQICSPCAIA SGLRNDLAEL TTLCLELNVL NSKIKSTSGH VDHTLQQYSP EILACQFLKK 

       790        800        810        820        830        840 
YFFLLNLKRA KESIKLSYSN SPSVWDTFIE GLKEMASSNP VYMEMEKGDL PTRLKLLDDE 

       850        860        870        880        890        900 
VPFDSPLLVV YATRLYEKFG ESALRSLIKF FPSILPSDII QLCHHHPAEF LAYLDSLVKS 

       910        920        930        940        950        960 
RPEDQRSSFL ESLLQPESLR LDWLLLAVSL DAPPSTSTMD DEGYPRPHSH LLSWGYSQLI 

       970        980        990       1000       1010       1020 
LHLIKLPADF ITKEKMTDIC RSCGFWPGYL ILCLELERRR EAFTNIVYLN DMSLMEGDNG 

      1030       1040       1050       1060       1070       1080 
WIPETVEEWK LLLHLIQSKS TRPAPQESLN GSLSDGPSPI NVENVALLLA KAMGPDRAWS 

      1090       1100       1110       1120 
LLQECGLALE LSEKFTRTCD ILRIAEKRQR ALIQSMLEKC DRFLWSQQA 

« Hide

Isoform 2 [UniParc].

Checksum: F6A30F048F6519A5
Show »

FASTA1,015114,826

References

« Hide 'large scale' references
[1]"Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6."
Zhang Q., Zhao B., Li W., Oiso N., Novak E.K., Rusiniak M.E., Gautam R., Chintala S., O'Brien E.P., Zhang Y., Roe B.A., Elliott R.W., Eicher E.M., Liang P., Kratz C., Legius E., Spritz R.A., O'Sullivan T.N. expand/collapse author list , Copeland N.G., Jenkins N.A., Swank R.T.
Nat. Genet. 33:145-153(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), VARIANT MET-417, DISEASE.
Tissue: Placenta.
[2]"Prediction of the coding sequences of unidentified human genes. XIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 6:63-70(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT MET-417.
Tissue: Brain.
[3]"Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones."
Nakajima D., Okazaki N., Yamakawa H., Kikuno R., Ohara O., Nagase T.
DNA Res. 9:99-106(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION.
[4]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Placenta.
[5]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Eye.
[7]"Identification of novel interaction partners for the conserved membrane proximal region of alpha-integrin cytoplasmic domains."
Wixler V., Laplantine E., Geerts D., Sonnenberg A., Petersohn D., Eckes B., Paulsson M., Aumailley M.
FEBS Lett. 445:351-355(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 517-1129, INTERACTION WITH ALPHA-INTEGRIN CHAINS.
Tissue: Placenta.
[8]"Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6."
Di Pietro S.M., Falcon-Perez J.M., Dell'Angelica E.C.
Traffic 5:276-283(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH HPS6, SUBCELLULAR LOCATION.
[9]"Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5."
Helip-Wooley A., Westbroek W., Dorward H.M., Koshoffer A., Huizing M., Boissy R.E., Gahl W.A.
J. Invest. Dermatol. 127:1471-1478(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
[10]"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."
Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J.
Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Embryonic kidney.
[11]"Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[12]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[13]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[14]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-532, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[15]"Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5."
Huizing M., Hess R., Dorward H., Claassen D.A., Helip-Wooley A., Kleta R., Kaiser-Kupfer M.I., White J.G., Gahl W.A.
Traffic 5:711-722(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS HPS5 ARG-624 AND ILE-1098, FUNCTION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_009147.3. NM_007216.3.
NP_852608.1. NM_181507.1.
NP_852609.1. NM_181508.1.
XP_005252818.1. XM_005252761.1.
XP_005252819.1. XM_005252762.1.
XP_005252820.1. XM_005252763.1.
XP_005252821.1. XM_005252764.1.
UniGeneHs.437599.

3D structure databases

ProteinModelPortalQ9UPZ3.
SMRQ9UPZ3. Positions 32-153.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid116399. 1 interaction.
STRING9606.ENSP00000312758.

PTM databases

PhosphoSiteQ9UPZ3.

Polymorphism databases

DMDM29429222.

Proteomic databases

PaxDbQ9UPZ3.
PRIDEQ9UPZ3.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000349215; ENSP00000265967; ENSG00000110756. [Q9UPZ3-1]
ENST00000396253; ENSP00000379552; ENSG00000110756. [Q9UPZ3-2]
ENST00000438420; ENSP00000399590; ENSG00000110756. [Q9UPZ3-2]
GeneID11234.
KEGGhsa:11234.
UCSCuc001mod.1. human. [Q9UPZ3-1]

Organism-specific databases

CTD11234.
GeneCardsGC11M018300.
HGNCHGNC:17022. HPS5.
HPAHPA037910.
MIM607521. gene.
614074. phenotype.
neXtProtNX_Q9UPZ3.
Orphanet231512. Hermansky-Pudlak syndrome without pulmonary fibrosis.
PharmGKBPA38432.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG253874.
HOVERGENHBG039495.
InParanoidQ9UPZ3.
OMAEYGACFF.
OrthoDBEOG7VHSWN.
PhylomeDBQ9UPZ3.
TreeFamTF323607.

Gene expression databases

ArrayExpressQ9UPZ3.
BgeeQ9UPZ3.
CleanExHS_HPS5.
GenevestigatorQ9UPZ3.

Family and domain databases

Gene3D2.130.10.10. 1 hit.
InterProIPR017217. BLOC-2_complex_Hps5_subunit.
IPR015943. WD40/YVTN_repeat-like_dom.
IPR017986. WD40_repeat_dom.
[Graphical view]
PIRSFPIRSF037475. BLOC-2_complex_Hps5. 1 hit.
SUPFAMSSF50978. SSF50978. 1 hit.
ProtoNetSearch...

Other

ChiTaRSHPS5. human.
GeneWikiHPS5.
GenomeRNAi11234.
NextBio42750.
PROQ9UPZ3.
SOURCESearch...

Entry information

Entry nameHPS5_HUMAN
AccessionPrimary (citable) accession number: Q9UPZ3
Secondary accession number(s): A8K6J8 expand/collapse secondary AC list , A8K8S1, D3DQX9, D3DQY0, O95942, Q8N4U0
Entry history
Integrated into UniProtKB/Swiss-Prot: February 21, 2001
Last sequence update: March 28, 2003
Last modified: March 19, 2014
This is version 110 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 11

Human chromosome 11: entries, gene names and cross-references to MIM