Q9UPZ3 (HPS5_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 103.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Hermansky-Pudlak syndrome 5 protein Alternative name(s): Alpha-integrin-binding protein 63 Ruby-eye protein 2 homolog Short name=Ru2 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 1129 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence 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 | |
| Tissue specificity | Widely expressed. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed 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. |
| Sequence similarities | Belongs to the HPS5 family. |
| Sequence caution | The sequence BAA76861.2 differs from that shown. Reason: Erroneous initiation. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Disease | Albinism Disease mutation Hermansky-Pudlak syndrome |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | blood coagulation Inferred from electronic annotation. Source: Compara organelle organizationInferred from electronic annotation. Source: Compara pigmentationInferred from electronic annotation. Source: Compara |
| Cellular_component | cytosol Inferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
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 key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 1129 | 1129 | Hermansky-Pudlak syndrome 5 protein | PRO_0000084054 | |||||
Regions | |||||||||
| Compositional bias | 158 – 163 | 6 | Poly-Ala | ||||||
Amino acid modifications | |||||||||
| Modified residue | 532 | 1 | Phosphoserine Ref.14 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 114 | 114 | Missing in isoform 2. | VSP_007035 | |||||
| Natural variant | 417 | 1 | L → M. Ref.1 Ref.2 Corresponds to variant rs7128017 [ dbSNP | Ensembl ]. | VAR_015513 | |||||
| Natural variant | 624 | 1 | L → R in HPS5. Ref.15 | VAR_062285 | |||||
| Natural variant | 1098 | 1 | T → I in HPS5. Ref.15 | VAR_062286 | |||||
Experimental info | |||||||||
| Sequence conflict | 70 | 1 | L → P in BAF84352. Ref.4 | ||||||
| Sequence conflict | 588 | 1 | C → R in BAF85125. Ref.4 | ||||||
| Sequence conflict | 1016 | 1 | E → K in AAH33640. Ref.4 | ||||||
Sequences
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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. 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. 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. 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, MASS SPECTROMETRY. 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. |
| IPI | IPI00010486. IPI00219602. |
| RefSeq | NP_009147.3. NM_007216.3. NP_852608.1. NM_181507.1. NP_852609.1. NM_181508.1. |
| UniGene | Hs.437599. |
3D structure databases | |
| ProteinModelPortal | Q9UPZ3. |
| ModBase | Search... |
Protein-protein interaction databases | |
| STRING | 9606.ENSP00000312758. |
PTM databases | |
| PhosphoSite | Q9UPZ3. |
Polymorphism databases | |
| DMDM | 29429222. |
Proteomic databases | |
| PaxDb | Q9UPZ3. |
| PRIDE | Q9UPZ3. |
Protocols and materials databases | |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000349215; ENSP00000265967; ENSG00000110756. ENST00000396253; ENSP00000379552; ENSG00000110756. ENST00000438420; ENSP00000399590; ENSG00000110756. |
| GeneID | 11234. |
| KEGG | hsa:11234. |
| UCSC | uc001mod.1. human. |
Organism-specific databases | |
| CTD | 11234. |
| GeneCards | GC11M018300. |
| HGNC | HGNC:17022. HPS5. |
| HPA | HPA037910. |
| MIM | 607521. gene. 614074. phenotype. |
| neXtProt | NX_Q9UPZ3. |
| Orphanet | 231512. Hermansky-Pudlak syndrome without pulmonary fibrosis. |
| PharmGKB | PA38432. |
| HUGE | Search... |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG253874. |
| HOVERGEN | HBG039495. |
| InParanoid | Q9UPZ3. |
| OMA | IQDVAVC. |
| OrthoDB | EOG4K0QMQ. |
| PhylomeDB | Q9UPZ3. |
Gene expression databases | |
| ArrayExpress | Q9UPZ3. |
| Bgee | Q9UPZ3. |
| CleanEx | HS_HPS5. |
| Genevestigator | Q9UPZ3. |
| GermOnline | ENSG00000110756. Homo sapiens. |
Family and domain databases | |
| Gene3D | 2.130.10.10. 1 hit. |
| InterPro | IPR017217. BLOC-2_complex_Hps5_subunit. IPR015943. WD40/YVTN_repeat-like_dom. IPR017986. WD40_repeat_dom. [Graphical view] |
| PIRSF | PIRSF037475. BLOC-2_complex_Hps5. 1 hit. |
| SUPFAM | SSF50978. WD40_like. 1 hit. |
| ProtoNet | Search... |
Other | |
| ChiTaRS | HPS5. human. |
| GenomeRNAi | 11234. |
| NextBio | 42750. |
| SOURCE | Search... |
Entry information
| Entry name | HPS5_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9UPZ3 Secondary accession number(s): A8K6J8 Q8N4U0 | ||||||||
| Entry history |
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| Entry status | 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. | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |
| SIMILARITY comments Index of protein domains and families |

Clusters with
