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Q92902

- HPS1_HUMAN

UniProt

Q92902 - HPS1_HUMAN

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Protein

Hermansky-Pudlak syndrome 1 protein

Gene

HPS1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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

GO - Molecular functioni

  1. protein dimerization activity Source: UniProtKB

GO - Biological processi

  1. blood coagulation Source: Ensembl
  2. eye pigmentation Source: Ensembl
  3. lysosome organization Source: ProtInc
  4. melanocyte differentiation Source: Ensembl
  5. positive regulation of natural killer cell activation Source: Ensembl
  6. retina development in camera-type eye Source: Ensembl
  7. secretion of lysosomal enzymes Source: Ensembl
  8. visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Sensory transduction, Vision

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
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:5163. HPS1.

Subcellular locationi

GO - Cellular componenti

  1. BLOC-3 complex Source: FlyBase
  2. cytoplasm Source: ProtInc
  3. cytoplasmic membrane-bounded vesicle Source: MGI
  4. integral component of plasma membrane Source: ProtInc
  5. lysosome Source: ProtInc
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti55 – 551Missing in HPS1; mild. 1 Publication
VAR_007950

Keywords - Diseasei

Albinism, Disease mutation, Hermansky-Pudlak syndrome

Organism-specific databases

MIMi203300. phenotype.
Orphaneti231500. Hermansky-Pudlak syndrome with pulmonary fibrosis.
PharmGKBiPA35101.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 700700Hermansky-Pudlak syndrome 1 proteinPRO_0000084047Add
BLAST

Proteomic databases

MaxQBiQ92902.
PaxDbiQ92902.
PRIDEiQ92902.

PTM databases

PhosphoSiteiQ92902.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiQ92902.
CleanExiHS_HPS1.
ExpressionAtlasiQ92902. baseline and differential.
GenevestigatoriQ92902.

Organism-specific databases

HPAiHPA061260.

Interactioni

Binary interactionsi

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

Protein-protein interaction databases

BioGridi109494. 9 interactions.
IntActiQ92902. 2 interactions.
STRINGi9606.ENSP00000326649.

Structurei

3D structure databases

ProteinModelPortaliQ92902.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati45 – 517[DE]-X(4)-L-L 1
Repeati147 – 1537[DE]-X(4)-L-L 2
Repeati516 – 5227[DE]-X(4)-L-L 3
Repeati644 – 6507[DE]-X(4)-L-L 4

Motif

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Motifi698 – 7003Melanosome targeting signalSequence Analysis

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi34 – 396Poly-Glu

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG83822.
GeneTreeiENSGT00390000015298.
HOVERGENiHBG004099.
InParanoidiQ92902.
OMAiCLPLWPG.
OrthoDBiEOG7NGQB2.
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. Align

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti254 – 2541D → H in AAC52074. (PubMed:9579545)Curated
Sequence conflicti533 – 5375SYLED → Y in AAB70662. (PubMed:9182823)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti55 – 551Missing in HPS1; mild. 1 Publication
VAR_007950
Natural varianti100 – 1001E → D.
Corresponds to variant rs1801285 [ dbSNP | Ensembl ].
VAR_014887
Natural varianti186 – 1861A → V.
Corresponds to variant rs1801286 [ dbSNP | Ensembl ].
VAR_014888
Natural varianti283 – 2831G → W.
Corresponds to variant rs11592273 [ dbSNP | Ensembl ].
VAR_005290
Natural varianti480 – 4801A → T.
Corresponds to variant rs17109853 [ dbSNP | Ensembl ].
VAR_038378
Natural varianti491 – 4911P → R.
Corresponds to variant rs2296434 [ dbSNP | Ensembl ].
VAR_005291
Natural varianti603 – 6031Q → R.
Corresponds to variant rs2296436 [ dbSNP | Ensembl ].
VAR_005292
Natural varianti630 – 6301V → I.
VAR_005293

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei114 – 13320Missing in isoform IV. CuratedVSP_004288Add
BLAST
Alternative sequencei257 – 28933Missing in isoform II. CuratedVSP_004289Add
BLAST
Alternative sequencei314 – 32411STIWLEGGTPP → EDRRKAGGNNS in isoform III. 2 PublicationsVSP_004290Add
BLAST
Alternative sequencei325 – 700376Missing in isoform III. 2 PublicationsVSP_004291Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_000195.3. [Q92902-1]
NP_872577.1. NM_182639.2. [Q92902-3]
XP_005269812.1. XM_005269755.2. [Q92902-1]
XP_005269813.1. XM_005269756.2. [Q92902-1]
XP_005269814.1. XM_005269757.2. [Q92902-1]
XP_005269815.1. XM_005269758.1. [Q92902-2]
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.3. human. [Q92902-3]
uc021pwv.1. human. [Q92902-1]

Polymorphism databases

DMDMi68067891.

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:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS7475.1. [Q92902-1 ]
CCDS7476.1. [Q92902-3 ]
RefSeqi NP_000186.2. NM_000195.3. [Q92902-1 ]
NP_872577.1. NM_182639.2. [Q92902-3 ]
XP_005269812.1. XM_005269755.2. [Q92902-1 ]
XP_005269813.1. XM_005269756.2. [Q92902-1 ]
XP_005269814.1. XM_005269757.2. [Q92902-1 ]
XP_005269815.1. XM_005269758.1. [Q92902-2 ]
UniGenei Hs.404568.

3D structure databases

ProteinModelPortali Q92902.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109494. 9 interactions.
IntActi Q92902. 2 interactions.
STRINGi 9606.ENSP00000326649.

PTM databases

PhosphoSitei Q92902.

Polymorphism databases

DMDMi 68067891.

Proteomic databases

MaxQBi Q92902.
PaxDbi Q92902.
PRIDEi Q92902.

Protocols and materials databases

DNASUi 3257.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000325103 ; ENSP00000326649 ; ENSG00000107521 . [Q92902-1 ]
ENST00000338546 ; ENSP00000343638 ; ENSG00000107521 . [Q92902-3 ]
ENST00000361490 ; ENSP00000355310 ; ENSG00000107521 . [Q92902-1 ]
ENST00000613394 ; ENSP00000477926 ; ENSG00000107521 . [Q92902-1 ]
GeneIDi 3257.
KEGGi hsa:3257.
UCSCi uc001kpl.3. human. [Q92902-3 ]
uc021pwv.1. human. [Q92902-1 ]

Organism-specific databases

CTDi 3257.
GeneCardsi GC10M100165.
GeneReviewsi HPS1.
H-InvDB HIX0009106.
HGNCi HGNC:5163. HPS1.
HPAi HPA061260.
MIMi 203300. phenotype.
604982. gene.
neXtProti NX_Q92902.
Orphaneti 231500. Hermansky-Pudlak syndrome with pulmonary fibrosis.
PharmGKBi PA35101.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG83822.
GeneTreei ENSGT00390000015298.
HOVERGENi HBG004099.
InParanoidi Q92902.
OMAi CLPLWPG.
OrthoDBi EOG7NGQB2.
PhylomeDBi Q92902.
TreeFami TF324374.

Miscellaneous databases

GeneWikii HPS1.
GenomeRNAii 3257.
NextBioi 12941.
PROi Q92902.
SOURCEi Search...

Gene expression databases

Bgeei Q92902.
CleanExi HS_HPS1.
ExpressionAtlasi Q92902. baseline and differential.
Genevestigatori Q92902.

Family and domain databases

InterProi IPR026053. HPS1.
[Graphical view ]
PANTHERi PTHR12761. PTHR12761. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.

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: October 29, 2014
This is version 138 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

External Data

Dasty 3