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Protein

Hermansky-Pudlak syndrome 1 protein

Gene

HPS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Keywords - Biological processi

Sensory transduction, Vision

Enzyme and pathway databases

BioCyciZFISH:ENSG00000107521-MONOMER.
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

HGNCiHGNC:5163. HPS1.

Subcellular locationi

GO - Cellular componenti

  • BLOC-3 complex Source: UniProtKB
  • cytoplasm Source: ProtInc
  • cytoplasmic, membrane-bounded vesicle Source: MGI
  • integral component of plasma membrane Source: ProtInc
  • lysosome Source: ProtInc
Complete GO annotation...

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.
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

  • protein dimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi109494. 9 interactors.
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.
OMAiQLCAIYR.
OrthoDBiEOG091G0G58.
PhylomeDBiQ92902.
TreeFamiTF324374.

Family and domain databases

InterProiIPR026053. HPS1.
[Graphical view]
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 rs1801285dbSNPEnsembl.1
Natural variantiVAR_014888186A → V.Corresponds to variant rs1801286dbSNPEnsembl.1
Natural variantiVAR_005290283G → W.Corresponds to variant rs11592273dbSNPEnsembl.1
Natural variantiVAR_038378480A → T.Corresponds to variant rs17109853dbSNPEnsembl.1
Natural variantiVAR_005291491P → R.Corresponds to variant rs2296434dbSNPEnsembl.1
Natural variantiVAR_005292603Q → R.Corresponds to variant rs2296436dbSNPEnsembl.1
Natural variantiVAR_005293630V → I.Corresponds to variant rs139061260dbSNPEnsembl.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. Translation: CAI14152.1.
AL139243 Genomic DNA. Translation: CAI14153.1.
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

Cross-referencesi

Web resourcesi

Mutations of the HPS gene

Retina International's Scientific Newsletter

Albinism database (ADB)

HPS1 mutations

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. Translation: CAI14152.1.
AL139243 Genomic DNA. Translation: CAI14153.1.
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.

3D structure databases

ProteinModelPortaliQ92902.
SMRiQ92902.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

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

PTM databases

iPTMnetiQ92902.
PhosphoSitePlusiQ92902.

Polymorphism and mutation databases

BioMutaiHPS1.
DMDMi68067891.

Proteomic databases

EPDiQ92902.
PaxDbiQ92902.
PeptideAtlasiQ92902.
PRIDEiQ92902.

Protocols and materials databases

DNASUi3257.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi3257.
DisGeNETi3257.
GeneCardsiHPS1.
GeneReviewsiHPS1.
H-InvDBHIX0009106.
HGNCiHGNC:5163. HPS1.
HPAiHPA061260.
MalaCardsiHPS1.
MIMi203300. phenotype.
604982. gene.
neXtProtiNX_Q92902.
OpenTargetsiENSG00000107521.
Orphaneti231500. Hermansky-Pudlak syndrome with pulmonary fibrosis.
PharmGKBiPA35101.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIS2. Eukaryota.
ENOG410YB41. LUCA.
GeneTreeiENSGT00390000015298.
HOVERGENiHBG004099.
InParanoidiQ92902.
KOiK20193.
OMAiQLCAIYR.
OrthoDBiEOG091G0G58.
PhylomeDBiQ92902.
TreeFamiTF324374.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000107521-MONOMER.
ReactomeiR-HSA-8876198. RAB GEFs exchange GTP for GDP on RABs.

Miscellaneous databases

ChiTaRSiHPS1. human.
GeneWikiiHPS1.
GenomeRNAii3257.
PROiQ92902.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000107521.
CleanExiHS_HPS1.
ExpressionAtlasiQ92902. baseline and differential.
GenevisibleiQ92902. HS.

Family and domain databases

InterProiIPR026053. HPS1.
[Graphical view]
PANTHERiPTHR12761. PTHR12761. 1 hit.
ProtoNetiSearch...

Entry informationi

Entry nameiHPS1_HUMAN
AccessioniPrimary (citable) accession number: Q92902
Secondary accession number(s): A8MRT2
, O15402, O15502, Q5TAA3, Q8WXE5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: June 21, 2005
Last modified: November 30, 2016
This is version 155 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 10
    Human chromosome 10: 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.