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Entry version 178 (17 Jun 2020)
Sequence version 2 (21 Jun 2005)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGuanine-nucleotide releasing factor
Biological processSensory transduction, Vision

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-8876198 RAB GEFs exchange GTP for GDP on RABs

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Hermansky-Pudlak syndrome 1 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:HPS1
Synonyms:HPS
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000107521.18

Human Gene Nomenclature Database

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HGNCi
HGNC:5163 HPS1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604982 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q92902

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00795055Missing in HPS1; mild. 1 Publication1

Keywords - Diseasei

Albinism, Disease mutation, Hermansky-Pudlak syndrome

Organism-specific databases

DisGeNET

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DisGeNETi
3257

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
HPS1

MalaCards human disease database

More...
MalaCardsi
HPS1
MIMi203300 phenotype

Open Targets

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OpenTargetsi
ENSG00000107521

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
231500 Hermansky-Pudlak syndrome with pulmonary fibrosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA35101

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q92902 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
HPS1

Domain mapping of disease mutations (DMDM)

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DMDMi
68067891

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000840471 – 700Hermansky-Pudlak syndrome 1 proteinAdd BLAST700

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q92902

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q92902

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q92902

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q92902

PeptideAtlas

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PeptideAtlasi
Q92902

PRoteomics IDEntifications database

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PRIDEi
Q92902

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
75584 [Q92902-1]
75585 [Q92902-2]
75586 [Q92902-3]
75587 [Q92902-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q92902

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q92902

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000107521 Expressed in blood and 186 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q92902 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q92902 HS

Organism-specific databases

Human Protein Atlas

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HPAi
ENSG00000107521 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
109494, 9 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-5043 BLOC-3 complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q92902

Protein interaction database and analysis system

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IntActi
Q92902, 8 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000326649

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q92902 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q92902

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>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
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi698 – 700Melanosome targeting signalSequence analysis3

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi34 – 39Poly-Glu6

Keywords - Domaini

Repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IIS2 Eukaryota
ENOG410YB41 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000015298

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_016960_1_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q92902

KEGG Orthology (KO)

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KOi
K20193

Identification of Orthologs from Complete Genome Data

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OMAi
DLIPWCK

Database of Orthologous Groups

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OrthoDBi
568288at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q92902

TreeFam database of animal gene trees

More...
TreeFami
TF324374

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026053 HPS1

The PANTHER Classification System

More...
PANTHERi
PTHR12761 PTHR12761, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 4 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform I (identifier: Q92902-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y4K4H0Y4K4_HUMAN
Hermansky-Pudlak syndrome 1 protein
HPS1
159Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5TAA8Q5TAA8_HUMAN
Hermansky-Pudlak syndrome 1 protein
HPS1
326Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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:rs17109853EnsemblClinVar.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
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
U65676 mRNA Translation: AAB17869.1
U79136 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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS7475.1 [Q92902-1]
CCDS7476.1 [Q92902-3]

NCBI Reference Sequences

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RefSeqi
NP_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]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000325103; ENSP00000326649; ENSG00000107521 [Q92902-1]
ENST00000338546; ENSP00000343638; ENSG00000107521 [Q92902-3]
ENST00000361490; ENSP00000355310; ENSG00000107521 [Q92902-1]
ENST00000613394; ENSP00000477926; ENSG00000107521 [Q92902-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
3257

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:3257

UCSC genome browser

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UCSCi
uc001kpl.4 human [Q92902-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 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]

3D structure databases

SMRiQ92902
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi109494, 9 interactors
ComplexPortaliCPX-5043 BLOC-3 complex
CORUMiQ92902
IntActiQ92902, 8 interactors
STRINGi9606.ENSP00000326649

PTM databases

iPTMnetiQ92902
PhosphoSitePlusiQ92902

Polymorphism and mutation databases

BioMutaiHPS1
DMDMi68067891

Proteomic databases

EPDiQ92902
jPOSTiQ92902
MassIVEiQ92902
PaxDbiQ92902
PeptideAtlasiQ92902
PRIDEiQ92902
ProteomicsDBi75584 [Q92902-1]
75585 [Q92902-2]
75586 [Q92902-3]
75587 [Q92902-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
45895 114 antibodies

The DNASU plasmid repository

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DNASUi
3257

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

Comparative Toxicogenomics Database

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CTDi
3257
DisGeNETi3257
EuPathDBiHostDB:ENSG00000107521.18

GeneCards: human genes, protein and diseases

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GeneCardsi
HPS1
GeneReviewsiHPS1
HGNCiHGNC:5163 HPS1
HPAiENSG00000107521 Low tissue specificity
MalaCardsiHPS1
MIMi203300 phenotype
604982 gene
neXtProtiNX_Q92902
OpenTargetsiENSG00000107521
Orphaneti231500 Hermansky-Pudlak syndrome with pulmonary fibrosis
PharmGKBiPA35101

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IIS2 Eukaryota
ENOG410YB41 LUCA
GeneTreeiENSGT00390000015298
HOGENOMiCLU_016960_1_0_1
InParanoidiQ92902
KOiK20193
OMAiDLIPWCK
OrthoDBi568288at2759
PhylomeDBiQ92902
TreeFamiTF324374

Enzyme and pathway databases

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

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
3257 3 hits in 785 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
HPS1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HPS1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
3257
PharosiQ92902 Tbio

Protein Ontology

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PROi
PR:Q92902
RNActiQ92902 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000107521 Expressed in blood and 186 other tissues
ExpressionAtlasiQ92902 baseline and differential
GenevisibleiQ92902 HS

Family and domain databases

InterProiView protein in InterPro
IPR026053 HPS1
PANTHERiPTHR12761 PTHR12761, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiHPS1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q92902
Secondary accession number(s): A8MRT2
, O15402, O15502, Q5TAA3, Q8WXE5
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: June 21, 2005
Last modified: June 17, 2020
This is version 178 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
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