UniProtKB - Q9UPZ3 (HPS5_HUMAN)
Hermansky-Pudlak syndrome 5 protein
HPS5
Functioni
GO - Biological processi
- blood coagulation Source: Ensembl
- organelle organization Source: Ensembl
- pigmentation Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | Q9UPZ3 |
SIGNORi | Q9UPZ3 |
Names & Taxonomyi
Protein namesi | Recommended name: Hermansky-Pudlak syndrome 5 proteinAlternative 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 | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:17022, HPS5 |
MIMi | 607521, gene |
neXtProti | NX_Q9UPZ3 |
VEuPathDBi | HostDB:ENSG00000110756.17 |
Subcellular locationi
Cytosol
- cytosol 1 Publication
Cytosol
- BLOC-2 complex Source: FlyBase
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Hermansky-Pudlak syndrome 5 (HPS5)1 Publication
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 variant, Hermansky-Pudlak syndromeOrganism-specific databases
DisGeNETi | 11234 |
GeneReviewsi | HPS5 |
MalaCardsi | HPS5 |
MIMi | 614074, phenotype |
OpenTargetsi | ENSG00000110756 |
Orphaneti | 231512, Hermansky-Pudlak syndrome without pulmonary fibrosis |
PharmGKBi | PA38432 |
Miscellaneous databases
Pharosi | Q9UPZ3, Tbio |
Genetic variation 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 | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 532 | PhosphoserineCombined sources | 1 | |
Modified residuei | 534 | PhosphoserineCombined sources | 1 | |
Modified residuei | 695 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9UPZ3 |
jPOSTi | Q9UPZ3 |
MassIVEi | Q9UPZ3 |
PaxDbi | Q9UPZ3 |
PeptideAtlasi | Q9UPZ3 |
PRIDEi | Q9UPZ3 |
ProteomicsDBi | 85477 [Q9UPZ3-1] 85478 [Q9UPZ3-2] |
PTM databases
iPTMneti | Q9UPZ3 |
PhosphoSitePlusi | Q9UPZ3 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000110756, Expressed in sural nerve and 227 other tissues |
ExpressionAtlasi | Q9UPZ3, baseline and differential |
Genevisiblei | Q9UPZ3, HS |
Organism-specific databases
HPAi | ENSG00000110756, Low tissue specificity |
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 PublicationsProtein-protein interaction databases
BioGRIDi | 116399, 33 interactors |
ComplexPortali | CPX-5044, BLOC-2 complex |
CORUMi | Q9UPZ3 |
IntActi | Q9UPZ3, 29 interactors |
STRINGi | 9606.ENSP00000265967 |
Miscellaneous databases
RNActi | Q9UPZ3, protein |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 158 – 163 | Poly-Ala | 6 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3621, Eukaryota |
GeneTreei | ENSGT00940000155818 |
HOGENOMi | CLU_008734_0_0_1 |
InParanoidi | Q9UPZ3 |
OMAi | QTMLERC |
OrthoDBi | 881551at2759 |
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 |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketG3V159 | G3V159_HUMAN | Hermansky-Pudlak syndrome 5 protein | HPS5 hCG_1784765 | 400 | Annotation score: | ||
F5GWM5 | F5GWM5_HUMAN | Hermansky-Pudlak syndrome 5 protein | HPS5 | 160 | Annotation score: | ||
F5H6Q8 | F5H6Q8_HUMAN | Hermansky-Pudlak syndrome 5 protein | HPS5 | 263 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | 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 | Graphical view | 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 |
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_016872638.1, XM_017017149.1 [Q9UPZ3-1] XP_016872639.1, XM_017017150.1 [Q9UPZ3-1] XP_016872643.1, XM_017017154.1 [Q9UPZ3-2] |
Genome annotation databases
Ensembli | ENST00000349215; ENSP00000265967; ENSG00000110756 [Q9UPZ3-1] ENST00000396253; ENSP00000379552; ENSG00000110756 [Q9UPZ3-2] ENST00000438420; ENSP00000399590; ENSG00000110756 [Q9UPZ3-2] ENST00000671838; ENSP00000500370; ENSG00000288445 [Q9UPZ3-1] ENST00000672334; ENSP00000500042; ENSG00000288445 [Q9UPZ3-2] ENST00000672413; ENSP00000499956; ENSG00000288445 [Q9UPZ3-2] |
GeneIDi | 11234 |
KEGGi | hsa:11234 |
UCSCi | uc001mod.2, human [Q9UPZ3-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
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_016872638.1, XM_017017149.1 [Q9UPZ3-1] XP_016872639.1, XM_017017150.1 [Q9UPZ3-1] XP_016872643.1, XM_017017154.1 [Q9UPZ3-2] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 116399, 33 interactors |
ComplexPortali | CPX-5044, BLOC-2 complex |
CORUMi | Q9UPZ3 |
IntActi | Q9UPZ3, 29 interactors |
STRINGi | 9606.ENSP00000265967 |
PTM databases
iPTMneti | Q9UPZ3 |
PhosphoSitePlusi | Q9UPZ3 |
Genetic variation databases
BioMutai | HPS5 |
DMDMi | 29429222 |
Proteomic databases
EPDi | Q9UPZ3 |
jPOSTi | Q9UPZ3 |
MassIVEi | Q9UPZ3 |
PaxDbi | Q9UPZ3 |
PeptideAtlasi | Q9UPZ3 |
PRIDEi | Q9UPZ3 |
ProteomicsDBi | 85477 [Q9UPZ3-1] 85478 [Q9UPZ3-2] |
Protocols and materials databases
Antibodypediai | 25002, 111 antibodies |
Genome annotation databases
Ensembli | ENST00000349215; ENSP00000265967; ENSG00000110756 [Q9UPZ3-1] ENST00000396253; ENSP00000379552; ENSG00000110756 [Q9UPZ3-2] ENST00000438420; ENSP00000399590; ENSG00000110756 [Q9UPZ3-2] ENST00000671838; ENSP00000500370; ENSG00000288445 [Q9UPZ3-1] ENST00000672334; ENSP00000500042; ENSG00000288445 [Q9UPZ3-2] ENST00000672413; ENSP00000499956; ENSG00000288445 [Q9UPZ3-2] |
GeneIDi | 11234 |
KEGGi | hsa:11234 |
UCSCi | uc001mod.2, human [Q9UPZ3-1] |
Organism-specific databases
CTDi | 11234 |
DisGeNETi | 11234 |
GeneCardsi | HPS5 |
GeneReviewsi | HPS5 |
HGNCi | HGNC:17022, HPS5 |
HPAi | ENSG00000110756, Low tissue specificity |
MalaCardsi | HPS5 |
MIMi | 607521, gene 614074, phenotype |
neXtProti | NX_Q9UPZ3 |
OpenTargetsi | ENSG00000110756 |
Orphaneti | 231512, Hermansky-Pudlak syndrome without pulmonary fibrosis |
PharmGKBi | PA38432 |
VEuPathDBi | HostDB:ENSG00000110756.17 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3621, Eukaryota |
GeneTreei | ENSGT00940000155818 |
HOGENOMi | CLU_008734_0_0_1 |
InParanoidi | Q9UPZ3 |
OMAi | QTMLERC |
OrthoDBi | 881551at2759 |
PhylomeDBi | Q9UPZ3 |
TreeFami | TF323607 |
Enzyme and pathway databases
PathwayCommonsi | Q9UPZ3 |
SIGNORi | Q9UPZ3 |
Miscellaneous databases
BioGRID-ORCSi | 11234, 11 hits in 882 CRISPR screens |
ChiTaRSi | HPS5, human |
GeneWikii | HPS5 |
GenomeRNAii | 11234 |
Pharosi | Q9UPZ3, Tbio |
PROi | PR:Q9UPZ3 |
RNActi | Q9UPZ3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000110756, Expressed in sural nerve and 227 other tissues |
ExpressionAtlasi | Q9UPZ3, baseline and differential |
Genevisiblei | Q9UPZ3, HS |
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 |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HPS5_HUMAN | |
Accessioni | Q9UPZ3Primary (citable) accession number: Q9UPZ3 Secondary accession number(s): A8K6J8 Q8N4U0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 21, 2001 |
Last sequence update: | March 28, 2003 | |
Last modified: | February 10, 2021 | |
This is version 161 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
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants