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Q92902 (HPS1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Hermansky-Pudlak syndrome 1 protein
Gene names
Name:HPS1
Synonyms:HPS
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length700 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting.

Tissue specificity

Ubiquitous.

Involvement in disease

Hermansky-Pudlak syndrome 1 (HPS1) [MIM:203300]: 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. Ref.9

Ontologies

Keywords
   Biological processSensory transduction
Vision
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseAlbinism
Disease mutation
Hermansky-Pudlak syndrome
   DomainRepeat
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processblood coagulation

Inferred from electronic annotation. Source: Ensembl

eye pigmentation

Inferred from electronic annotation. Source: Ensembl

lysosome organization

Traceable author statement PubMed 10625677. Source: ProtInc

melanocyte differentiation

Inferred from electronic annotation. Source: Ensembl

positive regulation of natural killer cell activation

Inferred from electronic annotation. Source: Ensembl

retina development in camera-type eye

Inferred from electronic annotation. Source: Ensembl

secretion of lysosomal enzymes

Inferred from electronic annotation. Source: Ensembl

visual perception

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentBLOC-3 complex

Inferred from physical interaction PubMed 12756248. Source: FlyBase

cytoplasm

Traceable author statement PubMed 10625677. Source: ProtInc

cytoplasmic membrane-bounded vesicle

Inferred from direct assay PubMed 11836498. Source: MGI

integral component of plasma membrane

Traceable author statement Ref.1. Source: ProtInc

lysosome

Traceable author statement PubMed 10625677. Source: ProtInc

   Molecular_functionprotein dimerization activity

Inferred from physical interaction PubMed 12663659. Source: UniProtKB

Complete GO annotation...

Binary interactions

With

Entry

#Exp.

IntAct

Notes

HPS4Q9NQG715EBI-704347,EBI-704377

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

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

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.
Isoform II (identifier: Q92902-2)

The sequence of this isoform differs from the canonical sequence as follows:
     257-289: Missing.
Isoform III (identifier: Q92902-3)

The sequence of this isoform differs from the canonical sequence as follows:
     314-324: STIWLEGGTPP → EDRRKAGGNNS
     325-700: Missing.
Isoform IV (identifier: Q92902-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 700700Hermansky-Pudlak syndrome 1 protein
PRO_0000084047

Regions

Repeat45 – 517[DE]-X(4)-L-L 1
Repeat147 – 1537[DE]-X(4)-L-L 2
Repeat516 – 5227[DE]-X(4)-L-L 3
Repeat644 – 6507[DE]-X(4)-L-L 4
Motif698 – 7003Melanosome targeting signal Potential
Compositional bias34 – 396Poly-Glu

Natural variations

Alternative sequence114 – 13320Missing in isoform IV.
VSP_004288
Alternative sequence257 – 28933Missing in isoform II.
VSP_004289
Alternative sequence314 – 32411STIWLEGGTPP → EDRRKAGGNNS in isoform III.
VSP_004290
Alternative sequence325 – 700376Missing in isoform III.
VSP_004291
Natural variant551Missing in HPS1; mild. Ref.9
VAR_007950
Natural variant1001E → D.
Corresponds to variant rs1801285 [ dbSNP | Ensembl ].
VAR_014887
Natural variant1861A → V.
Corresponds to variant rs1801286 [ dbSNP | Ensembl ].
VAR_014888
Natural variant2831G → W.
Corresponds to variant rs11592273 [ dbSNP | Ensembl ].
VAR_005290
Natural variant4801A → T.
Corresponds to variant rs17109853 [ dbSNP | Ensembl ].
VAR_038378
Natural variant4911P → R.
Corresponds to variant rs2296434 [ dbSNP | Ensembl ].
VAR_005291
Natural variant6031Q → R.
Corresponds to variant rs2296436 [ dbSNP | Ensembl ].
VAR_005292
Natural variant6301V → I.
VAR_005293

Experimental info

Sequence conflict2541D → H in AAC52074. Ref.3
Sequence conflict533 – 5375SYLED → Y in AAB70662. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform I [UniParc].

Last modified June 21, 2005. Version 2.
Checksum: 0885D3E2D64B3248

FASTA70079,292
        10         20         30         40         50         60 
MKCVLVATEG AEVLFYWTDQ EFEESLRLKF GQSENEEEEL PALEDQLSTL LAPVIISSMT 

        70         80         90        100        110        120 
MLEKLSDTYT CFSTENGNFL YVLHLFGECL FIAINGDHTE SEGDLRRKLY VLKYLFEVHF 

       130        140        150        160        170        180 
GLVTVDGHLI RKELRPPDLA QRVQLWEHFQ SLLWTYSRLR EQEQCFAVEA LERLIHPQLC 

       190        200        210        220        230        240 
ELCIEALERH VIQAVNTSPE RGGEEALHAF LLVHSKLLAF YSSHSASSLR PADLLALILL 

       250        260        270        280        290        300 
VQDLYPSEST AEDDIQPSPR RARSSQNIPV QQAWSPHSTG PTGGSSAETE TDSFSLPEEY 

       310        320        330        340        350        360 
FTPAPSPGDQ SSGSTIWLEG GTPPMDALQI AEDTLQTLVP HCPVPSGPRR IFLDANVKES 

       370        380        390        400        410        420 
YCPLVPHTMY CLPLWQGINL VLLTRSPSAP LALVLSQLMD GFSMLEKKLK EGPEPGASLR 

       430        440        450        460        470        480 
SQPLVGDLRQ RMDKFVKNRG AQEIQSTWLE FKAKAFSKSE PGSSWELLQA CGKLKRQLCA 

       490        500        510        520        530        540 
IYRLNFLTTA PSRGGPHLPQ HLQDQVQRLM REKLTDWKDF LLVKSRRNIT MVSYLEDFPG 

       550        560        570        580        590        600 
LVHFIYVDRT TGQMVAPSLN CSQKTSSELG KGPLAAFVKT KVWSLIQLAR RYLQKGYTTL 

       610        620        630        640        650        660 
LFQEGDFYCS YFLWFENDMG YKLQMIEVPV LSDDSVPIGM LGGDYYRKLL RYYSKNRPTE 

       670        680        690        700 
AVRCYELLAL HLSVIPTDLL VQQAGQLARR LWEASRIPLL 

« Hide

Isoform II [UniParc].

Checksum: 25D69E459957A263
Show »

FASTA66775,877
Isoform III [UniParc].

Checksum: 02E16B04FDEB3E6A
Show »

FASTA32436,476
Isoform IV [UniParc].

Checksum: A6B02698878EB1CF
Show »

FASTA68076,937

References

« Hide 'large scale' references
[1]"Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles."
Oh J., Bailin T., Fukai K., Feng G.H., Ho L., Mao J.-I., Frenk E., Tamura N., Spritz R.A.
Nat. Genet. 14:300-306(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM I), VARIANTS.
[2]"Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene."
Bailin T., Oh J., Feng G.H., Fukai K., Spritz R.A.
J. Invest. Dermatol. 108:923-927(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS I; II AND IV), VARIANTS.
[3]"Identification of a novel transcript produced by the gene responsible for the Hermansky-Pudlak syndrome in Puerto Rico."
Wildenberg S.C., Fryer J.P., Gardner J.M., Oetting W.S., Brilliant M.H., King R.A.
J. Invest. Dermatol. 110:777-781(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM III).
[4]"Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection."
Huizing M., Anikster Y., Gahl W.A.
Hum. Genet. 106:370-373(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[5]"The DNA sequence and comparative analysis of human chromosome 10."
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J. expand/collapse author list , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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 III).
Tissue: Placenta.
[8]"Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism."
Oetting W.S., King R.A.
Hum. Mutat. 13:99-115(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: REVIEW ON HPS1 VARIANTS.
[9]"Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity."
Oh J., Ho L., Ala-Mello S., Amato D., Armstrong L., Bellucci S., Carakushansky G., Ellis J.P., Fong C.-T., Green J.S., Heon E., Legius E., Levin A.V., Nieuwenhuis H.K., Pinckers A., Tamura N., Whiteford M.L., Yamasaki H., Spritz R.A.
Am. J. Hum. Genet. 62:593-598(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HPS1 ILE-55 DEL.
+Additional computationally mapped references.

Web resources

Mutations of the HPS gene

Retina International's Scientific Newsletter

Albinism database (ADB)

HPS1 mutations

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
U65676 mRNA. Translation: AAB17869.1.
U79136 expand/collapse EMBL AC list , 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.
RefSeqNP_000186.2. NM_000195.3.
NP_872577.1. NM_182639.2.
XP_005269812.1. XM_005269755.2.
XP_005269813.1. XM_005269756.2.
XP_005269814.1. XM_005269757.2.
XP_005269815.1. XM_005269758.1.
UniGeneHs.404568.

3D structure databases

ProteinModelPortalQ92902.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109494. 3 interactions.
IntActQ92902. 2 interactions.
STRING9606.ENSP00000326649.

PTM databases

PhosphoSiteQ92902.

Polymorphism databases

DMDM68067891.

Proteomic databases

PaxDbQ92902.
PRIDEQ92902.

Protocols and materials databases

DNASU3257.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000325103; ENSP00000326649; ENSG00000107521. [Q92902-1]
ENST00000338546; ENSP00000343638; ENSG00000107521. [Q92902-3]
ENST00000361490; ENSP00000355310; ENSG00000107521. [Q92902-1]
GeneID3257.
KEGGhsa:3257.
UCSCuc001kpl.3. human. [Q92902-3]
uc021pwv.1. human. [Q92902-1]

Organism-specific databases

CTD3257.
GeneCardsGC10M100165.
H-InvDBHIX0009106.
HGNCHGNC:5163. HPS1.
HPAHPA061260.
MIM203300. phenotype.
604982. gene.
neXtProtNX_Q92902.
Orphanet231500. Hermansky-Pudlak syndrome with pulmonary fibrosis.
PharmGKBPA35101.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG83822.
HOVERGENHBG004099.
InParanoidQ92902.
OMACLPLWPG.
OrthoDBEOG7NGQB2.
PhylomeDBQ92902.
TreeFamTF324374.

Gene expression databases

ArrayExpressQ92902.
BgeeQ92902.
CleanExHS_HPS1.
GenevestigatorQ92902.

Family and domain databases

InterProIPR026053. HPS1.
[Graphical view]
PANTHERPTHR12761. PTHR12761. 1 hit.
ProtoNetSearch...

Other

GeneWikiHPS1.
GenomeRNAi3257.
NextBio12941.
PROQ92902.
SOURCESearch...

Entry information

Entry nameHPS1_HUMAN
AccessionPrimary (citable) accession number: Q92902
Secondary accession number(s): A8MRT2 expand/collapse secondary AC list , O15402, O15502, Q5TAA3, Q8WXE5
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: June 21, 2005
Last modified: April 16, 2014
This is version 133 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM