UniProtKB - Q969F9 (HPS3_HUMAN)
Protein
Hermansky-Pudlak syndrome 3 protein
Gene
HPS3
Organism
Homo sapiens (Human)
Status
Functioni
Involved in early stages of melanosome biogenesis and maturation.By similarity
GO - Biological processi
- organelle organization Source: GO_Central
- pigmentation Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | Q969F9 |
SIGNORi | Q969F9 |
Names & Taxonomyi
Protein namesi | Recommended name: Hermansky-Pudlak syndrome 3 protein |
Gene namesi | Name:HPS3 |
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
EuPathDBi | HostDB:ENSG00000163755.8 |
HGNCi | HGNC:15597, HPS3 |
MIMi | 606118, gene |
neXtProti | NX_Q969F9 |
Subcellular locationi
Cytosol
- BLOC-2 complex Source: FlyBase
Other locations
- cytoplasm Source: GO_Central
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Hermansky-Pudlak syndrome 3 (HPS3)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_013251 | 397 | R → W in HPS3; mild. 1 PublicationCorresponds to variant dbSNP:rs121908316EnsemblClinVar. | 1 |
Keywords - Diseasei
Albinism, Disease mutation, Hermansky-Pudlak syndromeOrganism-specific databases
DisGeNETi | 84343 |
GeneReviewsi | HPS3 |
MalaCardsi | HPS3 |
MIMi | 614072, phenotype |
OpenTargetsi | ENSG00000163755 |
Orphaneti | 231512, Hermansky-Pudlak syndrome without pulmonary fibrosis |
PharmGKBi | PA29433 |
Miscellaneous databases
Pharosi | Q969F9, Tbio |
Polymorphism and mutation databases
BioMutai | HPS3 |
DMDMi | 20532121 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000084050 | 1 – 1004 | Hermansky-Pudlak syndrome 3 proteinAdd BLAST | 1004 |
Proteomic databases
EPDi | Q969F9 |
jPOSTi | Q969F9 |
MassIVEi | Q969F9 |
MaxQBi | Q969F9 |
PaxDbi | Q969F9 |
PeptideAtlasi | Q969F9 |
PRIDEi | Q969F9 |
ProteomicsDBi | 75751 [Q969F9-1] 75752 [Q969F9-2] |
PTM databases
iPTMneti | Q969F9 |
PhosphoSitePlusi | Q969F9 |
Expressioni
Tissue specificityi
Widely expressed. Higher levels of expression are observed in kidney, liver and placenta.
Gene expression databases
Bgeei | ENSG00000163755, Expressed in liver and 209 other tissues |
ExpressionAtlasi | Q969F9, baseline and differential |
Genevisiblei | Q969F9, HS |
Organism-specific databases
HPAi | ENSG00000163755, Low tissue specificity |
Interactioni
Subunit structurei
Protein-protein interaction databases
BioGRIDi | 124064, 16 interactors |
ComplexPortali | CPX-5044, BLOC-2 complex |
CORUMi | Q969F9 |
IntActi | Q969F9, 4 interactors |
STRINGi | 9606.ENSP00000296051 |
Miscellaneous databases
RNActi | Q969F9, protein |
Family & Domainsi
Motif
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Motifi | 172 – 176 | Clathrin-bindingSequence analysis | 5 |
Phylogenomic databases
eggNOGi | ENOG502QRQB, Eukaryota |
GeneTreei | ENSGT00390000015458 |
InParanoidi | Q969F9 |
OMAi | SPSTYRH |
OrthoDBi | 85118at2759 |
PhylomeDBi | Q969F9 |
TreeFami | TF324432 |
Family and domain databases
InterProi | View protein in InterPro IPR017216, HPS3 IPR029438, HPS3_C IPR028167, HPS3_central_dom IPR029437, HPS3_N |
PANTHERi | PTHR28633, PTHR28633, 1 hit |
Pfami | View protein in Pfam PF14763, HPS3_C, 1 hit PF14762, HPS3_Mid, 1 hit PF14761, HPS3_N, 1 hit |
PIRSFi | PIRSF037473, BLOC-2_complex_Hps3, 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 2 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q969F9-1) [UniParc]FASTAAdd to basket
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
MVQLYNLHPF GSQQVVPCKL EPDRFCGGGR DALFVAAGCK VEAFAVAGQE
60 70 80 90 100
LCQPRCAFST LGRVLRLAYS EAGDYLVAIE EKNKATFLRA YVNWRNKRTE
110 120 130 140 150
NSRVCIRMIG HNVEGPFSKA FRDQMYIIEM PLSEAPLCIS CCPVKGDLLV
160 170 180 190 200
GCTNKLVLFS LKYQIINEEF SLLDFERSLI IHIDNITPVE VSFCVGYVAV
210 220 230 240 250
MSDLEVLIVK LESGPKNGER VHHHPHKTNN RIRRTEEGIS NEISQLESDD
260 270 280 290 300
FVICQKPLEL LGEKSEQSGL SVTLESTGLA DEKRKYSHFQ HLLYRRFAPD
310 320 330 340 350
ISSYVLSDDI KLHSLQLLPI YQTGSLTSDG KNLSQEKELL SLFCFFSLPH
360 370 380 390 400
VGYLYMVVKS VELMSVYQYP EKSQQAVLTP QFLHVITSNN LQCFTVRCSA
410 420 430 440 450
AAAREEDPYM DTTLKACPPV SMDVCALRIQ LFIGLKAICH FKNHIILLTK
460 470 480 490 500
AEPEAIPERR QSPKRLLSRK DTSVKIKIPP VAEAGWNLYI VNTISPVQLY
510 520 530 540 550
KEMVDYSNTY KTVKTQSCIH LLSEAHLLVR AALMDASQLE PGEKAELLEA
560 570 580 590 600
FKESCGHLGD CYSRLDSQHS HLTLPYYKMS GLSMAEVLAR TDWTVEDGLQ
610 620 630 640 650
KYERGLIFYI NHSLYENLDE ELNEELAAKV VQMFYVAEPK QVPHILCSPS
660 670 680 690 700
MKNINPLTAM SYLRKLDTSG FSSILVTLTK AAVALKMGDL DMHRNEMKSH
710 720 730 740 750
SEMKLVCGFI LEPRLLIQQR KGQIVPTELA LHLKETQPGL LVASVLGLQK
760 770 780 790 800
NNKIGIEEAD SFFKVLCAKD EDTIPQLLVD FWEAQLVACL PDVVLQELFF
810 820 830 840 850
KLTSQYIWRL SKRQPPDTTP LRTSEDLINA CSHYGLIYPW VHVVISSDSL
860 870 880 890 900
ADKNYTEDLS KLQSLICGPS FDIASIIPFL EPLSEDTIAG LSVHVLCRTR
910 920 930 940 950
LKEYEQCIDI LLERCPEAVI PYANHELKEE NRTLWWKKLL PELCQRIKCG
960 970 980 990 1000
GEKYQLYLSS LKETLSIVAV ELELKDFMNV LPEDGTATFF LPYLLYCSRK
KPLT
Computationally mapped potential isoform sequencesi
There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketG5E9V4 | G5E9V4_HUMAN | Hermansky-Pudlak syndrome 3 protein... | HPS3 hCG_1787015 | 839 | Annotation score: | ||
H7C5G2 | H7C5G2_HUMAN | Hermansky-Pudlak syndrome 3 protein | HPS3 | 266 | Annotation score: |
Sequence cautioni
The sequence AAH16901 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH22062 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB71221 differs from that shown. Reason: Erroneous initiation.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 144 – 145 | VK → AR in AAH22062 (PubMed:15489334).Curated | 2 | |
Sequence conflicti | 556 | G → E in BAB71221 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 563 | S → T in AAH22062 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_038379 | 275 | E → K. Corresponds to variant dbSNP:rs34388030EnsemblClinVar. | 1 | |
Natural variantiVAR_035928 | 397 | R → Q in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs747708121Ensembl. | 1 | |
Natural variantiVAR_013251 | 397 | R → W in HPS3; mild. 1 PublicationCorresponds to variant dbSNP:rs121908316EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_003878 | 864 – 890 | SLICG…DTIAG → LPLFRSWSHFQKTLLPASVS MFCVVHA in isoform 2. 1 PublicationAdd BLAST | 27 | |
Alternative sequenceiVSP_003879 | 891 – 1004 | Missing in isoform 2. 1 PublicationAdd BLAST | 114 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF375663 Genomic DNA Translation: AAK84131.1 AY033141 mRNA Translation: AAK53457.1 AK026357 mRNA Translation: BAB15459.1 AK056575 mRNA Translation: BAB71221.1 Different initiation. AK291631 mRNA Translation: BAF84320.1 CH471052 Genomic DNA Translation: EAW78886.1 BC016901 mRNA Translation: AAH16901.1 Different initiation. BC022062 mRNA Translation: AAH22062.2 Different initiation. BC040359 mRNA Translation: AAH40359.1 |
CCDSi | CCDS3140.1 [Q969F9-1] |
RefSeqi | NP_001295187.1, NM_001308258.1 NP_115759.2, NM_032383.4 [Q969F9-1] |
Genome annotation databases
Ensembli | ENST00000296051; ENSP00000296051; ENSG00000163755 [Q969F9-1] |
GeneIDi | 84343 |
KEGGi | hsa:84343 |
UCSCi | uc003ewu.2, human [Q969F9-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Web resourcesi
Mutations of the HPS3 gene Retina International's Scientific Newsletter |
Albinism database (ADB) HPS3 mutations |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF375663 Genomic DNA Translation: AAK84131.1 AY033141 mRNA Translation: AAK53457.1 AK026357 mRNA Translation: BAB15459.1 AK056575 mRNA Translation: BAB71221.1 Different initiation. AK291631 mRNA Translation: BAF84320.1 CH471052 Genomic DNA Translation: EAW78886.1 BC016901 mRNA Translation: AAH16901.1 Different initiation. BC022062 mRNA Translation: AAH22062.2 Different initiation. BC040359 mRNA Translation: AAH40359.1 |
CCDSi | CCDS3140.1 [Q969F9-1] |
RefSeqi | NP_001295187.1, NM_001308258.1 NP_115759.2, NM_032383.4 [Q969F9-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 124064, 16 interactors |
ComplexPortali | CPX-5044, BLOC-2 complex |
CORUMi | Q969F9 |
IntActi | Q969F9, 4 interactors |
STRINGi | 9606.ENSP00000296051 |
PTM databases
iPTMneti | Q969F9 |
PhosphoSitePlusi | Q969F9 |
Polymorphism and mutation databases
BioMutai | HPS3 |
DMDMi | 20532121 |
Proteomic databases
EPDi | Q969F9 |
jPOSTi | Q969F9 |
MassIVEi | Q969F9 |
MaxQBi | Q969F9 |
PaxDbi | Q969F9 |
PeptideAtlasi | Q969F9 |
PRIDEi | Q969F9 |
ProteomicsDBi | 75751 [Q969F9-1] 75752 [Q969F9-2] |
Protocols and materials databases
Antibodypediai | 33559, 164 antibodies |
DNASUi | 84343 |
Genome annotation databases
Ensembli | ENST00000296051; ENSP00000296051; ENSG00000163755 [Q969F9-1] |
GeneIDi | 84343 |
KEGGi | hsa:84343 |
UCSCi | uc003ewu.2, human [Q969F9-1] |
Organism-specific databases
CTDi | 84343 |
DisGeNETi | 84343 |
EuPathDBi | HostDB:ENSG00000163755.8 |
GeneCardsi | HPS3 |
GeneReviewsi | HPS3 |
HGNCi | HGNC:15597, HPS3 |
HPAi | ENSG00000163755, Low tissue specificity |
MalaCardsi | HPS3 |
MIMi | 606118, gene 614072, phenotype |
neXtProti | NX_Q969F9 |
OpenTargetsi | ENSG00000163755 |
Orphaneti | 231512, Hermansky-Pudlak syndrome without pulmonary fibrosis |
PharmGKBi | PA29433 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QRQB, Eukaryota |
GeneTreei | ENSGT00390000015458 |
InParanoidi | Q969F9 |
OMAi | SPSTYRH |
OrthoDBi | 85118at2759 |
PhylomeDBi | Q969F9 |
TreeFami | TF324432 |
Enzyme and pathway databases
PathwayCommonsi | Q969F9 |
SIGNORi | Q969F9 |
Miscellaneous databases
BioGRID-ORCSi | 84343, 2 hits in 844 CRISPR screens |
ChiTaRSi | HPS3, human |
GeneWikii | HPS3 |
GenomeRNAii | 84343 |
Pharosi | Q969F9, Tbio |
PROi | PR:Q969F9 |
RNActi | Q969F9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000163755, Expressed in liver and 209 other tissues |
ExpressionAtlasi | Q969F9, baseline and differential |
Genevisiblei | Q969F9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR017216, HPS3 IPR029438, HPS3_C IPR028167, HPS3_central_dom IPR029437, HPS3_N |
PANTHERi | PTHR28633, PTHR28633, 1 hit |
Pfami | View protein in Pfam PF14763, HPS3_C, 1 hit PF14762, HPS3_Mid, 1 hit PF14761, HPS3_N, 1 hit |
PIRSFi | PIRSF037473, BLOC-2_complex_Hps3, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | HPS3_HUMAN | |
Accessioni | Q969F9Primary (citable) accession number: Q969F9 Secondary accession number(s): A8K6G6 Q9H608 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 10, 2002 |
Last sequence update: | December 1, 2001 | |
Last modified: | December 2, 2020 | |
This is version 155 of the entry and version 1 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 chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - 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 - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations