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Q9UPZ3

- HPS5_HUMAN

UniProt

Q9UPZ3 - HPS5_HUMAN

Protein

Hermansky-Pudlak syndrome 5 protein

Gene

HPS5

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 115 (01 Oct 2014)
      Sequence version 2 (28 Mar 2003)
      Previous versions | rss
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    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

    1. blood coagulation Source: Ensembl
    2. organelle organization Source: Ensembl
    3. pigmentation Source: Ensembl

    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
    ProteomesiUP000005640: Chromosome 11

    Organism-specific databases

    HGNCiHGNC:17022. HPS5.

    Subcellular locationi

    Cytoplasmcytosol 1 Publication

    GO - Cellular componenti

    1. BLOC-2 complex Source: FlyBase

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti624 – 6241L → R in HPS5. 1 Publication
    VAR_062285
    Natural varianti1098 – 10981T → I in HPS5. 1 Publication
    Corresponds to variant rs61884288 [ dbSNP | Ensembl ].
    VAR_062286

    Keywords - Diseasei

    Albinism, Disease mutation, Hermansky-Pudlak syndrome

    Organism-specific databases

    MIMi614074. phenotype.
    Orphaneti231512. Hermansky-Pudlak syndrome without pulmonary fibrosis.
    PharmGKBiPA38432.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11291129Hermansky-Pudlak syndrome 5 proteinPRO_0000084054Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei532 – 5321Phosphoserine1 Publication

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9UPZ3.
    PaxDbiQ9UPZ3.
    PRIDEiQ9UPZ3.

    PTM databases

    PhosphoSiteiQ9UPZ3.

    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

    ArrayExpressiQ9UPZ3.
    BgeeiQ9UPZ3.
    CleanExiHS_HPS5.
    GenevestigatoriQ9UPZ3.

    Organism-specific databases

    HPAiHPA037910.

    Interactioni

    Subunit structurei

    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 ITGA6.2 Publications

    Protein-protein interaction databases

    BioGridi116399. 1 interaction.
    STRINGi9606.ENSP00000312758.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9UPZ3.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi158 – 1636Poly-Ala

    Sequence similaritiesi

    Belongs to the HPS5 family.Curated

    Phylogenomic databases

    eggNOGiNOG253874.
    HOVERGENiHBG039495.
    InParanoidiQ9UPZ3.
    OMAiEYGACFF.
    OrthoDBiEOG7VHSWN.
    PhylomeDBiQ9UPZ3.
    TreeFamiTF323607.

    Family and domain databases

    Gene3Di2.130.10.10. 1 hit.
    InterProiIPR017217. BLOC-2_complex_Hps5_subunit.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR017986. WD40_repeat_dom.
    [Graphical view]
    PANTHERiPTHR23287:SF15. PTHR23287:SF15. 1 hit.
    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. Align

    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

    MAFVPVIPES YSHVLAEFES LDPLLSALRL DSSRLKCTSI AVSRKWLALG     50
    SSGGGLHLIQ KEGWKHRLFL SHREGAISQV ACCLHDDDYV AVATSQGLVV 100
    VWELNQERRG KPEQMYVSSE HKGRRVTALC WDTAILRVFV GDHAGKVSAI 150
    KLNTSKQAKA AAAFVMFPVQ TITTVDSCVV QLDYLDGRLL ISSLTRSFLC 200
    DTEREKFWKI GNKERDGEYG ACFFPGRCSG GQQPLIYCAR PGSRMWEVNF 250
    DGEVISTHQF KKLLSLPPLP VITLRSEPQY DHTAGSSQSL SFPKLLHLSE 300
    HCVLTWTERG IYIFIPQNVQ VLLWSEVKDI QDVAVCRNEL FCLHLNGKVS 350
    HLSLISVERC VERLLRRGLW NLAARTCCLF QNSVIASRAR KTLTADKLEH 400
    LKSQLDHGTY NDLISQLEEL ILKFEPLDSA CSSRRSSISS HESFSILDSG 450
    IYRIISSRRG SQSDEDSCSL HSQTLSEDER FKEFTSQQEE DLPDQCCGSH 500
    GNEDNVSHAP VMFETDKNET FLPFGIPLPF RSPSPLVSLQ AVKESVSSFV 550
    RKTTEKIGTL HTSPDLKVRP ELRGDEQSCE EDVSSDTCPK EEDTEEEKEV 600
    TSPPPEEDRF QELKVATAEA MTKLQDPLVL FESESLRMVL QEWLSHLEKT 650
    FAMKDFSGVS DTDNSSMKLN QDVLLVNESK KGILDEDNEK EKRDSLGNEE 700
    SVDKTACECV RSPRESLDDL FQICSPCAIA SGLRNDLAEL TTLCLELNVL 750
    NSKIKSTSGH VDHTLQQYSP EILACQFLKK YFFLLNLKRA KESIKLSYSN 800
    SPSVWDTFIE GLKEMASSNP VYMEMEKGDL PTRLKLLDDE VPFDSPLLVV 850
    YATRLYEKFG ESALRSLIKF FPSILPSDII QLCHHHPAEF LAYLDSLVKS 900
    RPEDQRSSFL ESLLQPESLR LDWLLLAVSL DAPPSTSTMD DEGYPRPHSH 950
    LLSWGYSQLI LHLIKLPADF ITKEKMTDIC RSCGFWPGYL ILCLELERRR 1000
    EAFTNIVYLN DMSLMEGDNG WIPETVEEWK LLLHLIQSKS TRPAPQESLN 1050
    GSLSDGPSPI NVENVALLLA KAMGPDRAWS LLQECGLALE LSEKFTRTCD 1100
    ILRIAEKRQR ALIQSMLEKC DRFLWSQQA 1129
    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 BAA76861.2 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti70 – 701L → P in BAF84352. (PubMed:14702039)Curated
    Sequence conflicti588 – 5881C → R in BAF85125. (PubMed:14702039)Curated
    Sequence conflicti1016 – 10161E → K in AAH33640. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti417 – 4171L → M.2 Publications
    Corresponds to variant rs7128017 [ dbSNP | Ensembl ].
    VAR_015513
    Natural varianti624 – 6241L → R in HPS5. 1 Publication
    VAR_062285
    Natural varianti1098 – 10981T → I in HPS5. 1 Publication
    Corresponds to variant rs61884288 [ dbSNP | Ensembl ].
    VAR_062286

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 114114Missing in isoform 2. 4 PublicationsVSP_007035Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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_005252818.1. XM_005252761.1. [Q9UPZ3-1]
    XP_005252819.1. XM_005252762.1. [Q9UPZ3-1]
    XP_005252820.1. XM_005252763.1. [Q9UPZ3-2]
    XP_005252821.1. XM_005252764.1. [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.1. human. [Q9UPZ3-1]

    Polymorphism databases

    DMDMi29429222.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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 .
    CCDSi CCDS7836.1. [Q9UPZ3-1 ]
    CCDS7837.1. [Q9UPZ3-2 ]
    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_005252818.1. XM_005252761.1. [Q9UPZ3-1 ]
    XP_005252819.1. XM_005252762.1. [Q9UPZ3-1 ]
    XP_005252820.1. XM_005252763.1. [Q9UPZ3-2 ]
    XP_005252821.1. XM_005252764.1. [Q9UPZ3-2 ]
    UniGenei Hs.437599.

    3D structure databases

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

    Protein-protein interaction databases

    BioGridi 116399. 1 interaction.
    STRINGi 9606.ENSP00000312758.

    PTM databases

    PhosphoSitei Q9UPZ3.

    Polymorphism databases

    DMDMi 29429222.

    Proteomic databases

    MaxQBi Q9UPZ3.
    PaxDbi Q9UPZ3.
    PRIDEi Q9UPZ3.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

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

    Organism-specific databases

    CTDi 11234.
    GeneCardsi GC11M018300.
    GeneReviewsi HPS5.
    HGNCi HGNC:17022. HPS5.
    HPAi HPA037910.
    MIMi 607521. gene.
    614074. phenotype.
    neXtProti NX_Q9UPZ3.
    Orphaneti 231512. Hermansky-Pudlak syndrome without pulmonary fibrosis.
    PharmGKBi PA38432.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG253874.
    HOVERGENi HBG039495.
    InParanoidi Q9UPZ3.
    OMAi EYGACFF.
    OrthoDBi EOG7VHSWN.
    PhylomeDBi Q9UPZ3.
    TreeFami TF323607.

    Miscellaneous databases

    ChiTaRSi HPS5. human.
    GeneWikii HPS5.
    GenomeRNAii 11234.
    NextBioi 42750.
    PROi Q9UPZ3.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q9UPZ3.
    Bgeei Q9UPZ3.
    CleanExi HS_HPS5.
    Genevestigatori Q9UPZ3.

    Family and domain databases

    Gene3Di 2.130.10.10. 1 hit.
    InterProi IPR017217. BLOC-2_complex_Hps5_subunit.
    IPR015943. WD40/YVTN_repeat-like_dom.
    IPR017986. WD40_repeat_dom.
    [Graphical view ]
    PANTHERi PTHR23287:SF15. PTHR23287:SF15. 1 hit.
    PIRSFi PIRSF037475. BLOC-2_complex_Hps5. 1 hit.
    SUPFAMi SSF50978. SSF50978. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. 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.
      , 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. 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. 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. 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.

    Entry informationi

    Entry nameiHPS5_HUMAN
    AccessioniPrimary (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: October 1, 2014
    This is version 115 of the entry and version 2 of the sequence. [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. Human chromosome 11
      Human chromosome 11: entries, gene names and cross-references to MIM
    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. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3