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Entry version 147 (31 Jul 2019)
Sequence version 1 (01 Dec 2001)
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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

<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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_and_taxonomy_section">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_manual">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

Human Gene Nomenclature Database

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HGNCi
HGNC:15597 HPS3

Online Mendelian Inheritance in Man (OMIM)

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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

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.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000840501 – 1004Hermansky-Pudlak syndrome 3 proteinAdd BLAST1004

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q969F9

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q969F9

MaxQB - The MaxQuant DataBase

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MaxQBi
Q969F9

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

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PaxDbi
Q969F9

PeptideAtlas

More...
PeptideAtlasi
Q969F9

PRoteomics IDEntifications database

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PRIDEi
Q969F9

ProteomicsDB human proteome resource

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

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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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 196 organ(s), highest expression level in liver

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q969F9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q969F9 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA046281
HPA052778

<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_section">'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_section">'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, 13 interactors

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q969F9

Protein interaction database and analysis system

More...
IntActi
Q969F9, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000296051

<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

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eggNOGi
ENOG410IGMD Eukaryota
ENOG410XQDA LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000015458

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000013119

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q969F9

KEGG Orthology (KO)

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KOi
K20190

Identification of Orthologs from Complete Genome Data

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OMAi
VHVLISS

Database of Orthologous Groups

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OrthoDBi
85118at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q969F9

TreeFam database of animal gene trees

More...
TreeFami
TF324432

Family and domain databases

Integrated resource of protein families, domains and functional sites

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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

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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_length">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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.<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.

Note: No experimental confirmation available.
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

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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

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CCDSi
CCDS3140.1 [Q969F9-1]

NCBI Reference Sequences

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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

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GeneIDi
84343

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:84343

UCSC genome browser

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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_references_section">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

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

Protein-protein interaction databases

BioGridi124064, 13 interactors
CORUMiQ969F9
IntActiQ969F9, 1 interactor
STRINGi9606.ENSP00000296051

PTM databases

iPTMnetiQ969F9
PhosphoSitePlusiQ969F9

Polymorphism and mutation databases

BioMutaiHPS3
DMDMi20532121

Proteomic databases

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

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
84343
Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
84343
DisGeNETi84343

GeneCards: human genes, protein and diseases

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GeneCardsi
HPS3
GeneReviewsiHPS3
HGNCiHGNC:15597 HPS3
HPAiHPA046281
HPA052778
MalaCardsiHPS3
MIMi606118 gene
614072 phenotype
neXtProtiNX_Q969F9
OpenTargetsiENSG00000163755
Orphaneti231512 Hermansky-Pudlak syndrome without pulmonary fibrosis
PharmGKBiPA29433

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IGMD Eukaryota
ENOG410XQDA LUCA
GeneTreeiENSGT00390000015458
HOGENOMiHOG000013119
InParanoidiQ969F9
KOiK20190
OMAiVHVLISS
OrthoDBi85118at2759
PhylomeDBiQ969F9
TreeFamiTF324432

Miscellaneous databases

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

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ChiTaRSi
HPS3 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HPS3

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

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GenomeRNAii
84343

Protein Ontology

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PROi
PR:Q969F9

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000163755 Expressed in 196 organ(s), highest expression level in liver
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

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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 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_and_isoforms">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: July 31, 2019
This is version 147 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: 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
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