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UniProtKB - Q969F9 (HPS3_HUMAN)

Entry version 155 (02 Dec 2020)
Sequence version 1 (01 Dec 2001)
Previous versions | rss
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Protein

Hermansky-Pudlak syndrome 3 protein

Gene

HPS3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:4 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

Involved in early stages of melanosome biogenesis and maturation.By similarity

<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 - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q969F9

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q969F9

<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 3 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:HPS3
<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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<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 3

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000163755.8

Human Gene Nomenclature Database

More...HGNCi		HGNC:15597, HPS3

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		606118, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q969F9

<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>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>Keywords - Cellular componenti

Cytoplasm

<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 3 (HPS3)2 Publications
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_013251397R → W in HPS3; mild. 1 PublicationCorresponds to variant dbSNP:rs121908316EnsemblClinVar.1

Keywords - Diseasei

Albinism, Disease mutation, Hermansky-Pudlak syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		84343

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

More...GeneReviewsi		HPS3

MalaCards human disease database

More...MalaCardsi		HPS3
MIMi614072, phenotype

Open Targets

More...OpenTargetsi		ENSG00000163755

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

More...Orphaneti		231512, Hermansky-Pudlak syndrome without pulmonary fibrosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA29433

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q969F9, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HPS3

Domain mapping of disease mutations (DMDM)

More...DMDMi		20532121

<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_00000840501 – 1004Hermansky-Pudlak syndrome 3 proteinAdd BLAST1004

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q969F9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q969F9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q969F9

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q969F9

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

More...PaxDbi		Q969F9

PeptideAtlas

More...PeptideAtlasi		Q969F9

PRoteomics IDEntifications database

More...PRIDEi		Q969F9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		75751 [Q969F9-1]
75752 [Q969F9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q969F9

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

More...PhosphoSitePlusi		Q969F9

<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

Widely expressed. Higher levels of expression are observed in kidney, liver and placenta.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000163755, Expressed in liver and 209 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q969F9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q969F9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000163755, 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-2 (or BLOC2) composed of HPS3, HPS5 and HPS6.

Interacts with HPS5 (PubMed:15030569).

Interacts with HPS6 (PubMed:15030569, PubMed:25189619).

2 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		124064, 16 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-5044, BLOC-2 complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q969F9

Protein interaction database and analysis system

More...IntActi		Q969F9, 4 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000296051

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q969F9, protein

<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

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>Motifi172 – 176Clathrin-bindingSequence analysis5

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QRQB, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000015458

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q969F9

Identification of Orthologs from Complete Genome Data

More...OMAi		SPSTYRH

Database of Orthologous Groups

More...OrthoDBi		85118at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q969F9

TreeFam database of animal gene trees

More...TreeFami		TF324432

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR017216, HPS3
IPR029438, HPS3_C
IPR028167, HPS3_central_dom
IPR029437, HPS3_N

The PANTHER Classification System

More...PANTHERi		PTHR28633, PTHR28633, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF14763, HPS3_C, 1 hit
PF14762, HPS3_Mid, 1 hit
PF14761, HPS3_N, 1 hit

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF037473, BLOC-2_complex_Hps3, 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 (2+)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 2 <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

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

Isoform 1 (identifier: Q969F9-1) [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
MVQLYNLHPF GSQQVVPCKL EPDRFCGGGR DALFVAAGCK VEAFAVAGQE 
        60         70         80         90        100
LCQPRCAFST LGRVLRLAYS EAGDYLVAIE EKNKATFLRA YVNWRNKRTE 
       110        120        130        140        150
NSRVCIRMIG HNVEGPFSKA FRDQMYIIEM PLSEAPLCIS CCPVKGDLLV 
       160        170        180        190        200
GCTNKLVLFS LKYQIINEEF SLLDFERSLI IHIDNITPVE VSFCVGYVAV 
       210        220        230        240        250
MSDLEVLIVK LESGPKNGER VHHHPHKTNN RIRRTEEGIS NEISQLESDD 
       260        270        280        290        300
FVICQKPLEL LGEKSEQSGL SVTLESTGLA DEKRKYSHFQ HLLYRRFAPD 
       310        320        330        340        350
ISSYVLSDDI KLHSLQLLPI YQTGSLTSDG KNLSQEKELL SLFCFFSLPH 
       360        370        380        390        400
VGYLYMVVKS VELMSVYQYP EKSQQAVLTP QFLHVITSNN LQCFTVRCSA 
       410        420        430        440        450
AAAREEDPYM DTTLKACPPV SMDVCALRIQ LFIGLKAICH FKNHIILLTK 
       460        470        480        490        500
AEPEAIPERR QSPKRLLSRK DTSVKIKIPP VAEAGWNLYI VNTISPVQLY 
       510        520        530        540        550
KEMVDYSNTY KTVKTQSCIH LLSEAHLLVR AALMDASQLE PGEKAELLEA 
       560        570        580        590        600
FKESCGHLGD CYSRLDSQHS HLTLPYYKMS GLSMAEVLAR TDWTVEDGLQ 
       610        620        630        640        650
KYERGLIFYI NHSLYENLDE ELNEELAAKV VQMFYVAEPK QVPHILCSPS 
       660        670        680        690        700
MKNINPLTAM SYLRKLDTSG FSSILVTLTK AAVALKMGDL DMHRNEMKSH 
       710        720        730        740        750
SEMKLVCGFI LEPRLLIQQR KGQIVPTELA LHLKETQPGL LVASVLGLQK 
       760        770        780        790        800
NNKIGIEEAD SFFKVLCAKD EDTIPQLLVD FWEAQLVACL PDVVLQELFF 
       810        820        830        840        850
KLTSQYIWRL SKRQPPDTTP LRTSEDLINA CSHYGLIYPW VHVVISSDSL 
       860        870        880        890        900
ADKNYTEDLS KLQSLICGPS FDIASIIPFL EPLSEDTIAG LSVHVLCRTR 
       910        920        930        940        950
LKEYEQCIDI LLERCPEAVI PYANHELKEE NRTLWWKKLL PELCQRIKCG 
       960        970        980        990       1000
GEKYQLYLSS LKETLSIVAV ELELKDFMNV LPEDGTATFF LPYLLYCSRK 

KPLT
Length:1,004
Mass (Da):113,736
Last modified:December 1, 2001 - v1
<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:iECA8FDF6AE37B47A
GO
Isoform 2 (identifier: Q969F9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     864-890: SLICGPSFDIASIIPFLEPLSEDTIAG → LPLFRSWSHFQKTLLPASVSMFCVVHA
     891-1004: Missing.

Show »
Length:890
Mass (Da):100,629
Checksum:iDC3FF99607BC83C0
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
G5E9V4G5E9V4_HUMAN
Hermansky-Pudlak syndrome 3 protein...
HPS3 hCG_1787015
839Annotation 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>
H7C5G2H7C5G2_HUMAN
Hermansky-Pudlak syndrome 3 protein
HPS3
266Annotation 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>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAH16901 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAH22062 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB71221 differs from that shown. Reason: Erroneous initiation.Curated

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 conflicti144 – 145VK → AR in AAH22062 (PubMed:15489334).Curated2
Sequence conflicti556G → E in BAB71221 (PubMed:14702039).Curated1
Sequence conflicti563S → T in AAH22062 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_038379275E → K. Corresponds to variant dbSNP:rs34388030EnsemblClinVar.1
Natural variantiVAR_035928397R → Q in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs747708121Ensembl.1
Natural variantiVAR_013251397R → W in HPS3; mild. 1 PublicationCorresponds to variant dbSNP:rs121908316EnsemblClinVar.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_003878864 – 890SLICG…DTIAG → LPLFRSWSHFQKTLLPASVS MFCVVHA in isoform 2. 1 PublicationAdd BLAST27
Alternative sequenceiVSP_003879891 – 1004Missing in isoform 2. 1 PublicationAdd BLAST114

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF375663 Genomic DNA Translation: AAK84131.1
AY033141 mRNA Translation: AAK53457.1
AK026357 mRNA Translation: BAB15459.1
AK056575 mRNA Translation: BAB71221.1 Different initiation.
AK291631 mRNA Translation: BAF84320.1
CH471052 Genomic DNA Translation: EAW78886.1
BC016901 mRNA Translation: AAH16901.1 Different initiation.
BC022062 mRNA Translation: AAH22062.2 Different initiation.
BC040359 mRNA Translation: AAH40359.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS3140.1 [Q969F9-1]

NCBI Reference Sequences

More...RefSeqi		NP_001295187.1, NM_001308258.1
NP_115759.2, NM_032383.4 [Q969F9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000296051; ENSP00000296051; ENSG00000163755 [Q969F9-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		84343

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:84343

UCSC genome browser

More...UCSCi		uc003ewu.2, human [Q969F9-1]

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 HPS3 gene

Retina International's Scientific Newsletter

Albinism database (ADB)

HPS3 mutations

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF375663 Genomic DNA Translation: AAK84131.1
AY033141 mRNA Translation: AAK53457.1
AK026357 mRNA Translation: BAB15459.1
AK056575 mRNA Translation: BAB71221.1 Different initiation.
AK291631 mRNA Translation: BAF84320.1
CH471052 Genomic DNA Translation: EAW78886.1
BC016901 mRNA Translation: AAH16901.1 Different initiation.
BC022062 mRNA Translation: AAH22062.2 Different initiation.
BC040359 mRNA Translation: AAH40359.1
CCDSiCCDS3140.1 [Q969F9-1]
RefSeqiNP_001295187.1, NM_001308258.1
NP_115759.2, NM_032383.4 [Q969F9-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi124064, 16 interactors
ComplexPortaliCPX-5044, BLOC-2 complex
CORUMiQ969F9
IntActiQ969F9, 4 interactors
STRINGi9606.ENSP00000296051

PTM databases

iPTMnetiQ969F9
PhosphoSitePlusiQ969F9

Polymorphism and mutation databases

BioMutaiHPS3
DMDMi20532121

Proteomic databases

EPDiQ969F9
jPOSTiQ969F9
MassIVEiQ969F9
MaxQBiQ969F9
PaxDbiQ969F9
PeptideAtlasiQ969F9
PRIDEiQ969F9
ProteomicsDBi75751 [Q969F9-1]
75752 [Q969F9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		33559, 164 antibodies

The DNASU plasmid repository

More...DNASUi		84343

Genome annotation databases

EnsembliENST00000296051; ENSP00000296051; ENSG00000163755 [Q969F9-1]
GeneIDi84343
KEGGihsa:84343
UCSCiuc003ewu.2, human [Q969F9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		84343
DisGeNETi84343
EuPathDBiHostDB:ENSG00000163755.8

GeneCards: human genes, protein and diseases

More...GeneCardsi		HPS3
GeneReviewsiHPS3
HGNCiHGNC:15597, HPS3
HPAiENSG00000163755, Low tissue specificity
MalaCardsiHPS3
MIMi606118, gene
614072, phenotype
neXtProtiNX_Q969F9
OpenTargetsiENSG00000163755
Orphaneti231512, Hermansky-Pudlak syndrome without pulmonary fibrosis
PharmGKBiPA29433

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QRQB, Eukaryota
GeneTreeiENSGT00390000015458
InParanoidiQ969F9
OMAiSPSTYRH
OrthoDBi85118at2759
PhylomeDBiQ969F9
TreeFamiTF324432

Enzyme and pathway databases

PathwayCommonsiQ969F9
SIGNORiQ969F9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		84343, 2 hits in 844 CRISPR screens

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

More...ChiTaRSi		HPS3, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		HPS3

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

More...GenomeRNAii		84343
PharosiQ969F9, Tbio

Protein Ontology

More...PROi		PR:Q969F9
RNActiQ969F9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000163755, Expressed in liver and 209 other tissues
ExpressionAtlasiQ969F9, baseline and differential
GenevisibleiQ969F9, HS

Family and domain databases

InterProiView protein in InterPro
IPR017216, HPS3
IPR029438, HPS3_C
IPR028167, HPS3_central_dom
IPR029437, HPS3_N
PANTHERiPTHR28633, PTHR28633, 1 hit
PfamiView protein in Pfam
PF14763, HPS3_C, 1 hit
PF14762, HPS3_Mid, 1 hit
PF14761, HPS3_N, 1 hit
PIRSFiPIRSF037473, BLOC-2_complex_Hps3, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 nameiHPS3_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: Q969F9
Secondary accession number(s): A8K6G6
, Q8WTV6, Q96AP1, Q96MR3, Q9H608
<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: May 10, 2002
Last sequence update: December 1, 2001
Last modified: December 2, 2020
This is version 155 of the entry and version 1 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 chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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