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Entry version 157 (17 Jun 2020)
Sequence version 2 (06 Jun 2002)
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Protein

Hermansky-Pudlak syndrome 4 protein

Gene

HPS4

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

Annotation score:5 out of 5

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

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

Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 (PubMed:23084991).1 Publication

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

GO - Biological processi

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

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Hermansky-Pudlak syndrome 4 protein
Alternative name(s):
Light-ear protein homolog
<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:HPS4
Synonyms:KIAA1667
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000100099.20

Human Gene Nomenclature Database

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HGNCi
HGNC:15844 HPS4

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606682 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9NQG7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

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

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Hermansky-Pudlak syndrome 4 (HPS4)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS.
Related information in OMIM

Keywords - Diseasei

Albinism, Hermansky-Pudlak syndrome

Organism-specific databases

DisGeNET

More...
DisGeNETi
89781

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

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GeneReviewsi
HPS4

MalaCards human disease database

More...
MalaCardsi
HPS4
MIMi614073 phenotype

Open Targets

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OpenTargetsi
ENSG00000100099

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

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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA29434

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9NQG7 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
HPS4

Domain mapping of disease mutations (DMDM)

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DMDMi
21362617

<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_00000840521 – 708Hermansky-Pudlak syndrome 4 proteinAdd BLAST708

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 residuei355PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9NQG7

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9NQG7

MaxQB - The MaxQuant DataBase

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MaxQBi
Q9NQG7

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

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PaxDbi
Q9NQG7

PeptideAtlas

More...
PeptideAtlasi
Q9NQG7

PRoteomics IDEntifications database

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PRIDEi
Q9NQG7

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
82150 [Q9NQG7-1]
82151 [Q9NQG7-2]
82152 [Q9NQG7-3]
82153 [Q9NQG7-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9NQG7

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

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PhosphoSitePlusi
Q9NQG7

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000100099 Expressed in right hemisphere of cerebellum and 204 other tissues

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9NQG7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9NQG7 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000100099 Low tissue specificity

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

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

Component of the biogenesis of lysosome-related organelles complex-3 (or BLOC-3), a heterodimer of HPS1 and HPS4 (PubMed:20048159, PubMed:23084991). HPS4 and the BLOC-3 complex interact with the GTP-bound form of RAB9A and RAB9B but not with the GDP-bound form of RAB9A and RAB9B. The BLOC-3 complex does not interact with RAB5A, RAB7A and RAB27A (PubMed:20048159).

2 Publications

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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

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BioGRIDi
124600, 1 interactor

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-5043 BLOC-3 complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q9NQG7

Protein interaction database and analysis system

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IntActi
Q9NQG7, 5 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000381213

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

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RNActi
Q9NQG7 protein

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

3D structure databases

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

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SMRi
Q9NQG7

Database of comparative protein structure models

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ModBasei
Search...

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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410II2Z Eukaryota
ENOG4110KSY LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000007349

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
CLU_028579_0_0_1

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9NQG7

KEGG Orthology (KO)

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KOi
K20194

Identification of Orthologs from Complete Genome Data

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OMAi
VYACCSP

Database of Orthologous Groups

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OrthoDBi
359138at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9NQG7

TreeFam database of animal gene trees

More...
TreeFami
TF332819

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR026091 HPS4

The PANTHER Classification System

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PANTHERi
PTHR14407 PTHR14407, 1 hit

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

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

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

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

Isoform 1 (identifier: Q9NQG7-1) [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
MATSTSTEAK SASWWNYFFL YDGSKVKEEG DPTRAGICYF YPSQTLLDQQ
60 70 80 90 100
ELLCGQIAGV VRCVSDISDS PPTLVRLRKL KFAIKVDGDY LWVLGCAVEL
110 120 130 140 150
PDVSCKRFLD QLVGFFNFYN GPVSLAYENC SQEELSTEWD TFIEQILKNT
160 170 180 190 200
SDLHKIFNSL WNLDQTKVEP LLLLKAARIL QTCQRSPHIL AGCILYKGLI
210 220 230 240 250
VSTQLPPSLT AKVLLHRTAP QEQRLPTGED APQEHGAALP PNVQIIPVFV
260 270 280 290 300
TKEEAISLHE FPVEQMTRSL ASPAGLQDGS AQHHPKGGST SALKENATGH
310 320 330 340 350
VESMAWTTPD PTSPDEACPD GRKENGCLSG HDLESIRPAG LHNSARGEVL
360 370 380 390 400
GLSSSLGKEL VFLQEELDLS EIHIPEAQEV EMASGHFAFL HVPVPDGRAP
410 420 430 440 450
YCKASLSASS SLEPTPPEDT AISSLRPPSA PEMLTQHGAQ EQLEDHPGHS
460 470 480 490 500
SQAPIPRADP LPRRTRRPLL LPRLDPGQRG NKLPTGEQGL DEDVDGVCES
510 520 530 540 550
HAAPGLECSS GSANCQGAGP SADGISSRLT PAESCMGLVR MNLYTHCVKG
560 570 580 590 600
LVLSLLAEEP LLGDSAAIEE VYHSSLASLN GLEVHLKETL PRDEAASTSS
610 620 630 640 650
TYNFTHYDRI QSLLMANLPQ VATPQDRRFL QAVSLMHSEF AQLPALYEMT
660 670 680 690 700
VRNASTAVYA CCNPIQETYF QQLAPAARSS GFPNPQDGAF SLSGKAKQKL

LKHGVNLL
Length:708
Mass (Da):76,919
Last modified:June 6, 2002 - 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:iE47BCF49FC78830A
GO
Isoform 2 (identifier: Q9NQG7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     236-236: G → GKWMLWSFKNRVTHQNPNG
     463-510: RRTRRPLLLP...HAAPGLECSS → KSTVLFSGGC...FFDSMRQTAG
     511-708: Missing.

Show »
Length:528
Mass (Da):58,067
Checksum:i59CCB0697F2192EA
GO
Isoform 3 (identifier: Q9NQG7-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MATSTSTEAKSASW → MAPLCSLAR

Show »
Length:703
Mass (Da):76,423
Checksum:iC73D3EE841604112
GO
Isoform 4 (identifier: Q9NQG7-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-14: MATSTSTEAKSASW → MAPLCSLAR
     236-236: G → GKWMLWSFKNRVTHQNPNG

Show »
Length:721
Mass (Da):78,648
Checksum:i60F5499DBDBAF003
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F1LLU8F1LLU8_HUMAN
Hermansky-Pudlak syndrome 4 protein
HPS4
481Annotation 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>
F8VYA9F8VYA9_HUMAN
Hermansky-Pudlak syndrome 4 protein
HPS4
191Annotation 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>
F8WC53F8WC53_HUMAN
Hermansky-Pudlak syndrome 4 protein
HPS4
196Annotation 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>
E5RG08E5RG08_HUMAN
Hermansky-Pudlak syndrome 4 protein
HPS4
167Annotation 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 BAB33337 differs from that shown. Intron retention.Curated
The sequence BAB33337 differs from that shown. Reason: Frameshift.Curated
The sequence BC035614 differs from that shown. Intron retention.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 conflicti168V → A (PubMed:15489334).Curated1
Sequence conflicti430A → V in BAB71540 (PubMed:14702039).Curated1

Natural variant

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_025006229E → G3 PublicationsCorresponds to variant dbSNP:rs713998Ensembl.1
Natural variantiVAR_024158443L → V1 PublicationCorresponds to variant dbSNP:rs2014410Ensembl.1
Natural variantiVAR_025007552V → M3 PublicationsCorresponds to variant dbSNP:rs5752330Ensembl.1
Natural variantiVAR_024159606H → Y3 PublicationsCorresponds to variant dbSNP:rs1894706Ensembl.1
Natural variantiVAR_021836625Q → H2 PublicationsCorresponds to variant dbSNP:rs1894704Ensembl.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_0170821 – 14MATST…KSASW → MAPLCSLAR in isoform 3 and isoform 4. 2 PublicationsAdd BLAST14
Alternative sequenceiVSP_003880236G → GKWMLWSFKNRVTHQNPNG in isoform 2 and isoform 4. 2 Publications1
Alternative sequenceiVSP_003881463 – 510RRTRR…LECSS → KSTVLFSGGCVKGSDTQLCV PGLVWYLEPQFYYVIVRHFF DSMRQTAG in isoform 2. 1 PublicationAdd BLAST48
Alternative sequenceiVSP_003882511 – 708Missing in isoform 2. 1 PublicationAdd BLAST198

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
AY043416 mRNA Translation: AAK95330.1
AL365512 mRNA Translation: CAB97208.1
AK057648 mRNA Translation: BAB71540.1
AL713795 mRNA Translation: CAD28549.1
Z99714 Genomic DNA Translation: CAI17880.1
Z99714 Genomic DNA Translation: CAQ09361.1
BC035614 mRNA No translation available.
AB051454 mRNA Translation: BAB33337.1 Sequence problems.

The Consensus CDS (CCDS) project

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CCDSi
CCDS13835.1 [Q9NQG7-1]
CCDS46677.1 [Q9NQG7-3]

NCBI Reference Sequences

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RefSeqi
NP_071364.4, NM_022081.5 [Q9NQG7-1]
NP_690054.1, NM_152841.2 [Q9NQG7-3]
XP_016884531.1, XM_017029042.1
XP_016884532.1, XM_017029043.1
XP_016884533.1, XM_017029044.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000336873; ENSP00000338457; ENSG00000100099 [Q9NQG7-1]
ENST00000398145; ENSP00000381213; ENSG00000100099 [Q9NQG7-1]
ENST00000402105; ENSP00000384185; ENSG00000100099 [Q9NQG7-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
89781

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:89781

UCSC genome browser

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UCSCi
uc003aci.5 human [Q9NQG7-1]

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 HPS4 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY043416 mRNA Translation: AAK95330.1
AL365512 mRNA Translation: CAB97208.1
AK057648 mRNA Translation: BAB71540.1
AL713795 mRNA Translation: CAD28549.1
Z99714 Genomic DNA Translation: CAI17880.1
Z99714 Genomic DNA Translation: CAQ09361.1
BC035614 mRNA No translation available.
AB051454 mRNA Translation: BAB33337.1 Sequence problems.
CCDSiCCDS13835.1 [Q9NQG7-1]
CCDS46677.1 [Q9NQG7-3]
RefSeqiNP_071364.4, NM_022081.5 [Q9NQG7-1]
NP_690054.1, NM_152841.2 [Q9NQG7-3]
XP_016884531.1, XM_017029042.1
XP_016884532.1, XM_017029043.1
XP_016884533.1, XM_017029044.1

3D structure databases

SMRiQ9NQG7
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi124600, 1 interactor
ComplexPortaliCPX-5043 BLOC-3 complex
CORUMiQ9NQG7
IntActiQ9NQG7, 5 interactors
STRINGi9606.ENSP00000381213

PTM databases

iPTMnetiQ9NQG7
PhosphoSitePlusiQ9NQG7

Polymorphism and mutation databases

BioMutaiHPS4
DMDMi21362617

Proteomic databases

jPOSTiQ9NQG7
MassIVEiQ9NQG7
MaxQBiQ9NQG7
PaxDbiQ9NQG7
PeptideAtlasiQ9NQG7
PRIDEiQ9NQG7
ProteomicsDBi82150 [Q9NQG7-1]
82151 [Q9NQG7-2]
82152 [Q9NQG7-3]
82153 [Q9NQG7-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
54828 46 antibodies

The DNASU plasmid repository

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DNASUi
89781

Genome annotation databases

EnsembliENST00000336873; ENSP00000338457; ENSG00000100099 [Q9NQG7-1]
ENST00000398145; ENSP00000381213; ENSG00000100099 [Q9NQG7-1]
ENST00000402105; ENSP00000384185; ENSG00000100099 [Q9NQG7-3]
GeneIDi89781
KEGGihsa:89781
UCSCiuc003aci.5 human [Q9NQG7-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
89781
DisGeNETi89781
EuPathDBiHostDB:ENSG00000100099.20

GeneCards: human genes, protein and diseases

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GeneCardsi
HPS4
GeneReviewsiHPS4
HGNCiHGNC:15844 HPS4
HPAiENSG00000100099 Low tissue specificity
MalaCardsiHPS4
MIMi606682 gene
614073 phenotype
neXtProtiNX_Q9NQG7
OpenTargetsiENSG00000100099
Orphaneti231500 Hermansky-Pudlak syndrome with pulmonary fibrosis
PharmGKBiPA29434

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410II2Z Eukaryota
ENOG4110KSY LUCA
GeneTreeiENSGT00390000007349
HOGENOMiCLU_028579_0_0_1
InParanoidiQ9NQG7
KOiK20194
OMAiVYACCSP
OrthoDBi359138at2759
PhylomeDBiQ9NQG7
TreeFamiTF332819

Enzyme and pathway databases

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

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

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BioGRID-ORCSi
89781 0 hits in 786 CRISPR screens

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

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ChiTaRSi
HPS4 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
HPS4

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

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GenomeRNAii
89781
PharosiQ9NQG7 Tbio

Protein Ontology

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PROi
PR:Q9NQG7
RNActiQ9NQG7 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000100099 Expressed in right hemisphere of cerebellum and 204 other tissues
ExpressionAtlasiQ9NQG7 baseline and differential
GenevisibleiQ9NQG7 HS

Family and domain databases

InterProiView protein in InterPro
IPR026091 HPS4
PANTHERiPTHR14407 PTHR14407, 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 nameiHPS4_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: Q9NQG7
Secondary accession number(s): B1AHQ4
, Q5H8V6, Q96LX6, Q9BY93, Q9UH37, Q9UH38
<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: June 6, 2002
Last sequence update: June 6, 2002
Last modified: June 17, 2020
This is version 157 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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

Keywords - Technical termi

Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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