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Q9UPZ3

- HPS5_HUMAN

UniProt

Q9UPZ3 - HPS5_HUMAN

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Protein

Hermansky-Pudlak syndrome 5 protein

Gene
HPS5, AIBP63, KIAA1017
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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

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

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
Complete GO annotation...

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.2 Publications
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.

Family & Domainsi

Compositional bias

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

Sequence similaritiesi

Belongs to the HPS5 family.

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.

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. VSP_007035Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti70 – 701L → P in BAF84352. 1 Publication
Sequence conflicti588 – 5881C → R in BAF85125. 1 Publication
Sequence conflicti1016 – 10161E → K in AAH33640. 1 Publication

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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 114 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

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