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UniProtKB - Q9UPZ3 (HPS5_HUMAN)

Entry version 162 (07 Apr 2021)
Sequence version 2 (28 Mar 2003)
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Protein

Hermansky-Pudlak syndrome 5 protein

Gene

HPS5

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

May regulate the synthesis and function of lysosomes and of highly specialized organelles, such as melanosomes and platelet dense granules. Regulates intracellular vesicular trafficking in fibroblasts. May be involved in the regulation of general functions of integrins.2 Publications

<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		Q9UPZ3

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9UPZ3

<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 5 protein
Alternative name(s):
Alpha-integrin-binding protein 63
Ruby-eye protein 2 homolog
Short name:
Ru2
<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:HPS5
Synonyms:AIBP63, KIAA1017
<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 11

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:17022, HPS5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		607521, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9UPZ3

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000110756.17

<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

<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 5 (HPS5)1 Publication
The disease is caused by variants 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_062285624L → R in HPS5. 1 PublicationCorresponds to variant dbSNP:rs281865102EnsemblClinVar.1
Natural variantiVAR_0622861098T → I in HPS5. 1 PublicationCorresponds to variant dbSNP:rs61884288EnsemblClinVar.1

Keywords - Diseasei

Albinism, Disease variant, Hermansky-Pudlak syndrome

Organism-specific databases

DisGeNET

More...DisGeNETi		11234

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

More...GeneReviewsi		HPS5

MalaCards human disease database

More...MalaCardsi		HPS5
MIMi614074, phenotype

Open Targets

More...OpenTargetsi		ENSG00000110756

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		PA38432

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9UPZ3, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		HPS5

Domain mapping of disease mutations (DMDM)

More...DMDMi		29429222

<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_00000840541 – 1129Hermansky-Pudlak syndrome 5 proteinAdd BLAST1129

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei532PhosphoserineCombined sources1
Modified residuei534PhosphoserineCombined sources1
Modified residuei695PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9UPZ3

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9UPZ3

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9UPZ3

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

More...PaxDbi		Q9UPZ3

PeptideAtlas

More...PeptideAtlasi		Q9UPZ3

PRoteomics IDEntifications database

More...PRIDEi		Q9UPZ3

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		85477 [Q9UPZ3-1]
85478 [Q9UPZ3-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9UPZ3

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

More...PhosphoSitePlusi		Q9UPZ3

<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. Isoform 1:Highly expressed in lungs and testis. Isoform 2:Highly expressed in placenta, kidney, testis ovary, lung and thymus.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000110756, Expressed in sural nerve and 227 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9UPZ3, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9UPZ3, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000110756, 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 HPS6 (PubMed:15030569, PubMed:25189619).

Interacts with HPS3 (PubMed:15030569). May interact with all alpha-integrin chains that have an aromatic residue before the first lysine of the conserved KXGFFKR motif, including ITGA2, ITGA3, ITGA5 and ITGA6 (PubMed:10094488).

3 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		116399, 34 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9UPZ3

Protein interaction database and analysis system

More...IntActi		Q9UPZ3, 29 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000265967

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9UPZ3, 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

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 biasi158 – 163Poly-Ala6

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the HPS5 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3621, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155818

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_008734_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9UPZ3

Identification of Orthologs from Complete Genome Data

More...OMAi		QTMLERC

Database of Orthologous Groups

More...OrthoDBi		881551at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9UPZ3

TreeFam database of animal gene trees

More...TreeFami		TF323607

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.130.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR035431, HPS5
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR036322, WD40_repeat_dom_sf

PIRSF; a whole-protein classification database

More...PIRSFi		PIRSF037475, BLOC-2_complex_Hps5, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF50978, SSF50978, 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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9UPZ3-1) [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
MAFVPVIPES YSHVLAEFES LDPLLSALRL DSSRLKCTSI AVSRKWLALG 
        60         70         80         90        100
SSGGGLHLIQ KEGWKHRLFL SHREGAISQV ACCLHDDDYV AVATSQGLVV 
       110        120        130        140        150
VWELNQERRG KPEQMYVSSE HKGRRVTALC WDTAILRVFV GDHAGKVSAI 
       160        170        180        190        200
KLNTSKQAKA AAAFVMFPVQ TITTVDSCVV QLDYLDGRLL ISSLTRSFLC 
       210        220        230        240        250
DTEREKFWKI GNKERDGEYG ACFFPGRCSG GQQPLIYCAR PGSRMWEVNF 
       260        270        280        290        300
DGEVISTHQF KKLLSLPPLP VITLRSEPQY DHTAGSSQSL SFPKLLHLSE 
       310        320        330        340        350
HCVLTWTERG IYIFIPQNVQ VLLWSEVKDI QDVAVCRNEL FCLHLNGKVS 
       360        370        380        390        400
HLSLISVERC VERLLRRGLW NLAARTCCLF QNSVIASRAR KTLTADKLEH 
       410        420        430        440        450
LKSQLDHGTY NDLISQLEEL ILKFEPLDSA CSSRRSSISS HESFSILDSG 
       460        470        480        490        500
IYRIISSRRG SQSDEDSCSL HSQTLSEDER FKEFTSQQEE DLPDQCCGSH 
       510        520        530        540        550
GNEDNVSHAP VMFETDKNET FLPFGIPLPF RSPSPLVSLQ AVKESVSSFV 
       560        570        580        590        600
RKTTEKIGTL HTSPDLKVRP ELRGDEQSCE EDVSSDTCPK EEDTEEEKEV 
       610        620        630        640        650
TSPPPEEDRF QELKVATAEA MTKLQDPLVL FESESLRMVL QEWLSHLEKT 
       660        670        680        690        700
FAMKDFSGVS DTDNSSMKLN QDVLLVNESK KGILDEDNEK EKRDSLGNEE 
       710        720        730        740        750
SVDKTACECV RSPRESLDDL FQICSPCAIA SGLRNDLAEL TTLCLELNVL 
       760        770        780        790        800
NSKIKSTSGH VDHTLQQYSP EILACQFLKK YFFLLNLKRA KESIKLSYSN 
       810        820        830        840        850
SPSVWDTFIE GLKEMASSNP VYMEMEKGDL PTRLKLLDDE VPFDSPLLVV 
       860        870        880        890        900
YATRLYEKFG ESALRSLIKF FPSILPSDII QLCHHHPAEF LAYLDSLVKS 
       910        920        930        940        950
RPEDQRSSFL ESLLQPESLR LDWLLLAVSL DAPPSTSTMD DEGYPRPHSH 
       960        970        980        990       1000
LLSWGYSQLI LHLIKLPADF ITKEKMTDIC RSCGFWPGYL ILCLELERRR 
      1010       1020       1030       1040       1050
EAFTNIVYLN DMSLMEGDNG WIPETVEEWK LLLHLIQSKS TRPAPQESLN 
      1060       1070       1080       1090       1100
GSLSDGPSPI NVENVALLLA KAMGPDRAWS LLQECGLALE LSEKFTRTCD 
      1110       1120 
ILRIAEKRQR ALIQSMLEKC DRFLWSQQA
Length:1,129
Mass (Da):127,449
Last modified:March 28, 2003 - 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:iC4FBF4EC90D1B8ED
GO
Isoform 2 (identifier: Q9UPZ3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-114: Missing.

Show »
Length:1,015
Mass (Da):114,826
Checksum:iF6A30F048F6519A5
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
G3V159G3V159_HUMAN
Hermansky-Pudlak syndrome 5 protein
HPS5 hCG_1784765
400Annotation 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>
F5GWM5F5GWM5_HUMAN
Hermansky-Pudlak syndrome 5 protein
HPS5
160Annotation 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>
F5H6Q8F5H6Q8_HUMAN
Hermansky-Pudlak syndrome 5 protein
HPS5
263Annotation 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 BAA76861 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 conflicti70L → P in BAF84352 (PubMed:14702039).Curated1
Sequence conflicti588C → R in BAF85125 (PubMed:14702039).Curated1
Sequence conflicti1016E → K in AAH33640 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_015513417L → M2 PublicationsCorresponds to variant dbSNP:rs7128017EnsemblClinVar.1
Natural variantiVAR_062285624L → R in HPS5. 1 PublicationCorresponds to variant dbSNP:rs281865102EnsemblClinVar.1
Natural variantiVAR_0622861098T → I in HPS5. 1 PublicationCorresponds to variant dbSNP:rs61884288EnsemblClinVar.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_0070351 – 114Missing in isoform 2. 4 PublicationsAdd 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
AF534400 mRNA Translation: AAO25962.1
AF534401 mRNA Translation: AAO25963.1
AF534402 mRNA Translation: AAO25964.1
AB023234 mRNA Translation: BAA76861.2 Different initiation.
AK291663 mRNA Translation: BAF84352.1
AK292436 mRNA Translation: BAF85125.1
CH471064 Genomic DNA Translation: EAW68402.1
CH471064 Genomic DNA Translation: EAW68404.1
CH471064 Genomic DNA Translation: EAW68405.1
CH471064 Genomic DNA Translation: EAW68406.1
CH471064 Genomic DNA Translation: EAW68407.1
BC033640 mRNA Translation: AAH33640.1
AJ131721 mRNA Translation: CAB38232.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7836.1 [Q9UPZ3-1]
CCDS7837.1 [Q9UPZ3-2]

NCBI Reference Sequences

More...RefSeqi		NP_009147.3, NM_007216.3 [Q9UPZ3-2]
NP_852608.1, NM_181507.1 [Q9UPZ3-1]
NP_852609.1, NM_181508.1 [Q9UPZ3-2]
XP_016872638.1, XM_017017149.1 [Q9UPZ3-1]
XP_016872639.1, XM_017017150.1 [Q9UPZ3-1]
XP_016872643.1, XM_017017154.1 [Q9UPZ3-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000349215; ENSP00000265967; ENSG00000110756 [Q9UPZ3-1]
ENST00000396253; ENSP00000379552; ENSG00000110756 [Q9UPZ3-2]
ENST00000438420; ENSP00000399590; ENSG00000110756 [Q9UPZ3-2]
ENST00000671838; ENSP00000500370; ENSG00000288445 [Q9UPZ3-1]
ENST00000672334; ENSP00000500042; ENSG00000288445 [Q9UPZ3-2]
ENST00000672413; ENSP00000499956; ENSG00000288445 [Q9UPZ3-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		11234

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:11234

UCSC genome browser

More...UCSCi		uc001mod.2, human [Q9UPZ3-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF534400 mRNA Translation: AAO25962.1
AF534401 mRNA Translation: AAO25963.1
AF534402 mRNA Translation: AAO25964.1
AB023234 mRNA Translation: BAA76861.2 Different initiation.
AK291663 mRNA Translation: BAF84352.1
AK292436 mRNA Translation: BAF85125.1
CH471064 Genomic DNA Translation: EAW68402.1
CH471064 Genomic DNA Translation: EAW68404.1
CH471064 Genomic DNA Translation: EAW68405.1
CH471064 Genomic DNA Translation: EAW68406.1
CH471064 Genomic DNA Translation: EAW68407.1
BC033640 mRNA Translation: AAH33640.1
AJ131721 mRNA Translation: CAB38232.1
CCDSiCCDS7836.1 [Q9UPZ3-1]
CCDS7837.1 [Q9UPZ3-2]
RefSeqiNP_009147.3, NM_007216.3 [Q9UPZ3-2]
NP_852608.1, NM_181507.1 [Q9UPZ3-1]
NP_852609.1, NM_181508.1 [Q9UPZ3-2]
XP_016872638.1, XM_017017149.1 [Q9UPZ3-1]
XP_016872639.1, XM_017017150.1 [Q9UPZ3-1]
XP_016872643.1, XM_017017154.1 [Q9UPZ3-2]

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

BioGRIDi116399, 34 interactors
ComplexPortaliCPX-5044, BLOC-2 complex
CORUMiQ9UPZ3
IntActiQ9UPZ3, 29 interactors
STRINGi9606.ENSP00000265967

PTM databases

iPTMnetiQ9UPZ3
PhosphoSitePlusiQ9UPZ3

Genetic variation databases

BioMutaiHPS5
DMDMi29429222

Proteomic databases

EPDiQ9UPZ3
jPOSTiQ9UPZ3
MassIVEiQ9UPZ3
PaxDbiQ9UPZ3
PeptideAtlasiQ9UPZ3
PRIDEiQ9UPZ3
ProteomicsDBi85477 [Q9UPZ3-1]
85478 [Q9UPZ3-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		25002, 115 antibodies

Genome annotation databases

EnsembliENST00000349215; ENSP00000265967; ENSG00000110756 [Q9UPZ3-1]
ENST00000396253; ENSP00000379552; ENSG00000110756 [Q9UPZ3-2]
ENST00000438420; ENSP00000399590; ENSG00000110756 [Q9UPZ3-2]
ENST00000671838; ENSP00000500370; ENSG00000288445 [Q9UPZ3-1]
ENST00000672334; ENSP00000500042; ENSG00000288445 [Q9UPZ3-2]
ENST00000672413; ENSP00000499956; ENSG00000288445 [Q9UPZ3-2]
GeneIDi11234
KEGGihsa:11234
UCSCiuc001mod.2, human [Q9UPZ3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		11234
DisGeNETi11234

GeneCards: human genes, protein and diseases

More...GeneCardsi		HPS5
GeneReviewsiHPS5
HGNCiHGNC:17022, HPS5
HPAiENSG00000110756, Low tissue specificity
MalaCardsiHPS5
MIMi607521, gene
614074, phenotype
neXtProtiNX_Q9UPZ3
OpenTargetsiENSG00000110756
Orphaneti231512, Hermansky-Pudlak syndrome without pulmonary fibrosis
PharmGKBiPA38432
VEuPathDBiHostDB:ENSG00000110756.17

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3621, Eukaryota
GeneTreeiENSGT00940000155818
HOGENOMiCLU_008734_0_0_1
InParanoidiQ9UPZ3
OMAiQTMLERC
OrthoDBi881551at2759
PhylomeDBiQ9UPZ3
TreeFamiTF323607

Enzyme and pathway databases

PathwayCommonsiQ9UPZ3
SIGNORiQ9UPZ3

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		11234, 11 hits in 1003 CRISPR screens

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

More...ChiTaRSi		HPS5, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		HPS5

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

More...GenomeRNAii		11234
PharosiQ9UPZ3, Tbio

Protein Ontology

More...PROi		PR:Q9UPZ3
RNActiQ9UPZ3, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000110756, Expressed in sural nerve and 227 other tissues
ExpressionAtlasiQ9UPZ3, baseline and differential
GenevisibleiQ9UPZ3, HS

Family and domain databases

Gene3Di2.130.10.10, 1 hit
InterProiView protein in InterPro
IPR035431, HPS5
IPR015943, WD40/YVTN_repeat-like_dom_sf
IPR036322, WD40_repeat_dom_sf
PIRSFiPIRSF037475, BLOC-2_complex_Hps5, 1 hit
SUPFAMiSSF50978, SSF50978, 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 nameiHPS5_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: Q9UPZ3
Secondary accession number(s): A8K6J8
, A8K8S1, D3DQX9, D3DQY0, O95942, Q8N4U0
<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: February 21, 2001
Last sequence update: March 28, 2003
Last modified: April 7, 2021
This is version 162 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 chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
UniProt is an ELIXIR core data resource
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