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Protein

Hermansky-Pudlak syndrome 1 protein

Gene

HPS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991).1 Publication

GO - Molecular functioni

  • guanyl-nucleotide exchange factor activity Source: UniProtKB-KW
  • protein dimerization activity Source: UniProtKB

GO - Biological processi

  • lysosome organization Source: ProtInc
  • melanosome assembly Source: UniProtKB
  • response to stimulus Source: UniProtKB-KW
  • visual perception Source: UniProtKB-KW

Keywordsi

Molecular functionGuanine-nucleotide releasing factor
Biological processSensory transduction, Vision

Enzyme and pathway databases

ReactomeiR-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

Names & Taxonomyi

Protein namesi
Recommended name:
Hermansky-Pudlak syndrome 1 protein
Gene namesi
Name:HPS1
Synonyms:HPS
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 10

Organism-specific databases

EuPathDBiHostDB:ENSG00000107521.18
HGNCiHGNC:5163 HPS1
MIMi604982 gene
neXtProtiNX_Q92902

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Hermansky-Pudlak syndrome 1 (HPS1)1 Publication
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.
See also OMIM:203300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00795055Missing in HPS1; mild. 1 Publication1

Keywords - Diseasei

Albinism, Disease mutation, Hermansky-Pudlak syndrome

Organism-specific databases

DisGeNETi3257
GeneReviewsiHPS1
MalaCardsiHPS1
MIMi203300 phenotype
OpenTargetsiENSG00000107521
Orphaneti231500 Hermansky-Pudlak syndrome with pulmonary fibrosis
PharmGKBiPA35101

Polymorphism and mutation databases

BioMutaiHPS1
DMDMi68067891

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000840471 – 700Hermansky-Pudlak syndrome 1 proteinAdd BLAST700

Proteomic databases

EPDiQ92902
PaxDbiQ92902
PeptideAtlasiQ92902
PRIDEiQ92902

PTM databases

iPTMnetiQ92902
PhosphoSitePlusiQ92902

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000107521
CleanExiHS_HPS1
ExpressionAtlasiQ92902 baseline and differential
GenevisibleiQ92902 HS

Organism-specific databases

HPAiHPA061260

Interactioni

Subunit structurei

Component of the biogenesis of lysosome-related organelles complex-3 (or BLOC-3), a heterodimer of HPS1 and HPS4 (PubMed:20048159, PubMed:23084991). HPS1 cannot but BLOC-3 complex (heterodimer of HPS1 and HPS4) can interact with the GTP-bound form of RAB9A and RAB9B. HPS1 and BLOC-3 complex do not interact with the GDP-bound form of RAB9A and RAB9B (PubMed:20048159).2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
HPS4Q9NQG715EBI-704347,EBI-704377

GO - Molecular functioni

  • guanyl-nucleotide exchange factor activity Source: UniProtKB-KW
  • protein dimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi109494, 9 interactors
CORUMiQ92902
IntActiQ92902, 2 interactors
STRINGi9606.ENSP00000326649

Structurei

3D structure databases

ProteinModelPortaliQ92902
SMRiQ92902
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati45 – 51[DE]-X(4)-L-L 17
Repeati147 – 153[DE]-X(4)-L-L 27
Repeati516 – 522[DE]-X(4)-L-L 37
Repeati644 – 650[DE]-X(4)-L-L 47

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi698 – 700Melanosome targeting signalSequence analysis3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi34 – 39Poly-Glu6

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiENOG410IIS2 Eukaryota
ENOG410YB41 LUCA
GeneTreeiENSGT00390000015298
HOVERGENiHBG004099
InParanoidiQ92902
KOiK20193
OMAiKYLFEVH
OrthoDBiEOG091G0G58
PhylomeDBiQ92902
TreeFamiTF324374

Family and domain databases

InterProiView protein in InterPro
IPR026053 HPS1
PANTHERiPTHR12761 PTHR12761, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Note: Additional isoforms seem to exist.
Isoform I (identifier: Q92902-1) [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

        10         20         30         40         50
MKCVLVATEG AEVLFYWTDQ EFEESLRLKF GQSENEEEEL PALEDQLSTL
60 70 80 90 100
LAPVIISSMT MLEKLSDTYT CFSTENGNFL YVLHLFGECL FIAINGDHTE
110 120 130 140 150
SEGDLRRKLY VLKYLFEVHF GLVTVDGHLI RKELRPPDLA QRVQLWEHFQ
160 170 180 190 200
SLLWTYSRLR EQEQCFAVEA LERLIHPQLC ELCIEALERH VIQAVNTSPE
210 220 230 240 250
RGGEEALHAF LLVHSKLLAF YSSHSASSLR PADLLALILL VQDLYPSEST
260 270 280 290 300
AEDDIQPSPR RARSSQNIPV QQAWSPHSTG PTGGSSAETE TDSFSLPEEY
310 320 330 340 350
FTPAPSPGDQ SSGSTIWLEG GTPPMDALQI AEDTLQTLVP HCPVPSGPRR
360 370 380 390 400
IFLDANVKES YCPLVPHTMY CLPLWQGINL VLLTRSPSAP LALVLSQLMD
410 420 430 440 450
GFSMLEKKLK EGPEPGASLR SQPLVGDLRQ RMDKFVKNRG AQEIQSTWLE
460 470 480 490 500
FKAKAFSKSE PGSSWELLQA CGKLKRQLCA IYRLNFLTTA PSRGGPHLPQ
510 520 530 540 550
HLQDQVQRLM REKLTDWKDF LLVKSRRNIT MVSYLEDFPG LVHFIYVDRT
560 570 580 590 600
TGQMVAPSLN CSQKTSSELG KGPLAAFVKT KVWSLIQLAR RYLQKGYTTL
610 620 630 640 650
LFQEGDFYCS YFLWFENDMG YKLQMIEVPV LSDDSVPIGM LGGDYYRKLL
660 670 680 690 700
RYYSKNRPTE AVRCYELLAL HLSVIPTDLL VQQAGQLARR LWEASRIPLL
Length:700
Mass (Da):79,292
Last modified:June 21, 2005 - v2
Checksum:i0885D3E2D64B3248
GO
Isoform II (identifier: Q92902-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     257-289: Missing.

Show »
Length:667
Mass (Da):75,877
Checksum:i25D69E459957A263
GO
Isoform III (identifier: Q92902-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     314-324: STIWLEGGTPP → EDRRKAGGNNS
     325-700: Missing.

Show »
Length:324
Mass (Da):36,476
Checksum:i02E16B04FDEB3E6A
GO
Isoform IV (identifier: Q92902-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     114-133: Missing.

Show »
Length:680
Mass (Da):76,937
Checksum:iA6B02698878EB1CF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti254D → H in AAC52074 (PubMed:9579545).Curated1
Sequence conflicti533 – 537SYLED → Y in AAB70662 (PubMed:9182823).Curated5

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00795055Missing in HPS1; mild. 1 Publication1
Natural variantiVAR_014887100E → D. Corresponds to variant dbSNP:rs1801285Ensembl.1
Natural variantiVAR_014888186A → V. Corresponds to variant dbSNP:rs1801286EnsemblClinVar.1
Natural variantiVAR_005290283G → W. Corresponds to variant dbSNP:rs11592273EnsemblClinVar.1
Natural variantiVAR_038378480A → T. Corresponds to variant dbSNP:rs17109853Ensembl.1
Natural variantiVAR_005291491P → R. Corresponds to variant dbSNP:rs2296434EnsemblClinVar.1
Natural variantiVAR_005292603Q → R. Corresponds to variant dbSNP:rs2296436EnsemblClinVar.1
Natural variantiVAR_005293630V → I. Corresponds to variant dbSNP:rs139061260EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_004288114 – 133Missing in isoform IV. CuratedAdd BLAST20
Alternative sequenceiVSP_004289257 – 289Missing in isoform II. CuratedAdd BLAST33
Alternative sequenceiVSP_004290314 – 324STIWLEGGTPP → EDRRKAGGNNS in isoform III. 2 PublicationsAdd BLAST11
Alternative sequenceiVSP_004291325 – 700Missing in isoform III. 2 PublicationsAdd BLAST376

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U65676 mRNA Translation: AAB17869.1
U79136
, U79123, U79124, U79125, U79126, U79127, U79128, U79129, U79130, U79131, U79132, U79133, U79134, U79135 Genomic DNA Translation: AAB70662.1
U96721 mRNA Translation: AAC52074.1
AF450133 Genomic DNA Translation: AAL50684.1
AL139243 Genomic DNA No translation available.
CH471066 Genomic DNA Translation: EAW49882.1
BC000175 mRNA Translation: AAH00175.1
CCDSiCCDS7475.1 [Q92902-1]
CCDS7476.1 [Q92902-3]
RefSeqiNP_000186.2, NM_000195.4 [Q92902-1]
NP_001309405.1, NM_001322476.1 [Q92902-1]
NP_001309406.1, NM_001322477.1 [Q92902-1]
NP_001309407.1, NM_001322478.1 [Q92902-2]
NP_001309408.1, NM_001322479.1 [Q92902-2]
NP_872577.1, NM_182639.3 [Q92902-3]
XP_005269814.1, XM_005269757.4 [Q92902-1]
UniGeneiHs.404568

Genome annotation databases

EnsembliENST00000325103; ENSP00000326649; ENSG00000107521 [Q92902-1]
ENST00000338546; ENSP00000343638; ENSG00000107521 [Q92902-3]
ENST00000361490; ENSP00000355310; ENSG00000107521 [Q92902-1]
ENST00000613394; ENSP00000477926; ENSG00000107521 [Q92902-1]
GeneIDi3257
KEGGihsa:3257
UCSCiuc001kpl.4 human [Q92902-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiHPS1_HUMAN
AccessioniPrimary (citable) accession number: Q92902
Secondary accession number(s): A8MRT2
, O15402, O15502, Q5TAA3, Q8WXE5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: June 21, 2005
Last modified: May 23, 2018
This is version 164 of the entry and version 2 of the sequence. See 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

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