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UniProtKB - Q9HCE0 (EPG5_HUMAN)

Entry version 124 (02 Dec 2020)
Sequence version 2 (02 Oct 2007)
Previous versions | rss
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Protein

Ectopic P granules protein 5 homolog

Gene

EPG5

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

Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo. Plays a key role in innate and adaptive immune response triggered by unmethylated cytidine-phosphate-guanosine (CpG) dinucleotides from pathogens, and mediated by the nucleotide-sensing receptor TLR9. It is necessary for the translocation of CpG dinucleotides from early endosomes to late endosomes and lysosomes, where TLR9 is located (PubMed:29130391).3 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 ...

<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

Biological processAutophagy

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9HCE0

<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:
Ectopic P granules protein 5 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:EPG5
Synonyms:KIAA1632
<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 18

Organism-specific databases

Eukaryotic Pathogen and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000152223.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:29331, EPG5

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		615068, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9HCE0

<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

Keywords - Cellular componenti

Cytoplasm, Lysosome

<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

Vici syndrome (VICIS)6 Publications
The disease is caused by mutations affecting the gene represented in this entry. Affected individuals show homozygosity or compound heterozygosity for truncating mutations, aberrant splicing and/or missense mutations. Parental studies suggest recessive inheritance with no carrier manifestation (PubMed:23222957).1 Publication
Disease descriptionA rare congenital multisystem disorder characterized by agenesis of the corpus callosum, cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy.
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_08136946 – 2579Missing in VICIS. 1 PublicationAdd BLAST2534
Natural variantiVAR_081370299 – 2579Missing in VICIS. 1 PublicationAdd BLAST2281
Natural variantiVAR_069224336Q → R in VICIS; relatively mild phenotype characterized by absence or later onset of cardiac or immunologic features; a normally spliced transcript with the missense variant and multiple misspliced transcripts are detected in patient cells; results in 50% decrease of mRNA levels in patient cells most probably due to nonsense-mediated decay of misspliced transcripts. 3 PublicationsCorresponds to variant dbSNP:rs201757275EnsemblClinVar.1
Natural variantiVAR_081371417 – 2579Missing in VICIS. 1 PublicationAdd BLAST2163
Natural variantiVAR_081372457L → P in VICIS; unknown pathological significance; associated in cis with P-784. 1 PublicationCorresponds to variant dbSNP:rs746862679EnsemblClinVar.1
Natural variantiVAR_081373784Q → P in VICIS; unknown pathological significance; associated in cis with P-457. 1 PublicationCorresponds to variant dbSNP:rs754795342EnsemblClinVar.1
Natural variantiVAR_081374859 – 2579Missing in VICIS. 1 PublicationAdd BLAST1721
Natural variantiVAR_0813751161 – 2579Missing in VICIS. 2 PublicationsAdd BLAST1419
Natural variantiVAR_0813761336G → E in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1085308061EnsemblClinVar.1
Natural variantiVAR_0813771530 – 2579Missing in VICIS. 1 PublicationAdd BLAST1050
Natural variantiVAR_0813781584 – 2579Missing in VICIS. 1 PublicationAdd BLAST996
Natural variantiVAR_0813791595 – 2579Missing in VICIS. 1 PublicationAdd BLAST985
Natural variantiVAR_0813801827P → A in VICIS. 1 PublicationCorresponds to variant dbSNP:rs1568118775EnsemblClinVar.1
Natural variantiVAR_0813811945 – 2579Missing in VICIS. 1 PublicationAdd BLAST635
Natural variantiVAR_0813821989 – 2579Missing in VICIS. 1 PublicationAdd BLAST591
Natural variantiVAR_0813831998 – 2579Missing in VICIS. 1 PublicationAdd BLAST582
Natural variantiVAR_0813842028 – 2579Missing in VICIS. 1 PublicationAdd BLAST552
Natural variantiVAR_0813852038C → R in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375057925EnsemblClinVar.1
Natural variantiVAR_0813862078 – 2579Missing in VICIS. 1 PublicationAdd BLAST502
Natural variantiVAR_0813872092L → P in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1568104317EnsemblClinVar.1
Natural variantiVAR_0813882414E → K in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1568094451EnsemblClinVar.1
Natural variantiVAR_0813892445 – 2579Missing in VICIS. 1 PublicationAdd BLAST135
Natural variantiVAR_0813902483 – 2579Missing in VICIS. 2 PublicationsAdd BLAST97

Keywords - Diseasei

Cataract, Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		57724

MalaCards human disease database

More...MalaCardsi		EPG5
MIMi242840, phenotype

Open Targets

More...OpenTargetsi		ENSG00000152223

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

More...Orphaneti		1493, Vici syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134941500

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9HCE0, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		EPG5

Domain mapping of disease mutations (DMDM)

More...DMDMi		158705892

<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_00003062551 – 2579Ectopic P granules protein 5 homologAdd BLAST2579

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 residuei134PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9HCE0

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9HCE0

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9HCE0

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9HCE0

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

More...PaxDbi		Q9HCE0

PeptideAtlas

More...PeptideAtlasi		Q9HCE0

PRoteomics IDEntifications database

More...PRIDEi		Q9HCE0

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		81681 [Q9HCE0-1]
81682 [Q9HCE0-2]

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		2037, 6 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		Q9HCE0, 1 site, 6 N-linked glycans (1 site)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9HCE0

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

More...PhosphoSitePlusi		Q9HCE0

<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

More...Bgeei		ENSG00000152223, Expressed in sural nerve and 216 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9HCE0, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9HCE0, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000152223, 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

Interacts with RAN.

1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		121746, 7 interactors

Protein interaction database and analysis system

More...IntActi		Q9HCE0, 3 interactors

Molecular INTeraction database

More...MINTi		Q9HCE0

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000282041

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9HCE0, 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

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili1607 – 1633Sequence analysisAdd BLAST27

<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 EPG5 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3622, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000007354

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_000773_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9HCE0

Identification of Orthologs from Complete Genome Data

More...OMAi		FFEMAND

Database of Orthologous Groups

More...OrthoDBi		42984at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9HCE0

TreeFam database of animal gene trees

More...TreeFami		TF313847

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR029651, EPG-5

The PANTHER Classification System

More...PANTHERi		PTHR31139:SF4, PTHR31139:SF4, 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 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9HCE0-1) [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
MAEAVKPQRR AKAKASRTKT KEKKKYETPQ REESSEVSLP KTSREQEIPS 
        60         70         80         90        100
LACEFKGDHL KVVTDSQLQD DASGQNESEM FDVPLTSLTI SNEESLTCNT 
       110        120        130        140        150
EPPKEGGEAR PCVGDSAVTP KVHPGDNVGT KVETPKNFTE VEENMSVQGG 
       160        170        180        190        200
LSESAPQSNF SYTQPAMENI QVRETQNSKE DKQGLVCSSE VPQNVGLQSS 
       210        220        230        240        250
CPAKHGFQTP RVKKLYPQLP AEIAGEAPAL VAVKPLLRSE RLYPELPSQL 
       260        270        280        290        300
ELVPFTKEQL KILEPGSWLE NVESYLEEFD SMAHQDRHEF YELLLNYSRC 
       310        320        330        340        350
RKQLLLAEAE LLTLTSDCQN AKSRLWQFKE EQMSVQGICA DQVKVFSYHR 
       360        370        380        390        400
YQRVEMNENA LVELKKLFDA KSEHLHQTLA LHSYTSVLSR LQVESYIYAL 
       410        420        430        440        450
LSSSAVLRSS AIHQQGRASK QTESIPSDLC QLKECISVLF MFTRRVNEDT 
       460        470        480        490        500
QFHDDILLWL QKLVSVLQRV GCPGDHLFLL NHILRCPAGV SKWAVPFIQI 
       510        520        530        540        550
KVLHNPSGVF HFMQSLALLM SPVKNRAEFM CHMKPSERKP SSSGPGSGTW 
       560        570        580        590        600
TLVDEGGEED EDPETSWILL NEDDLVTILA QFPFHELFQH LLGFKAKGDY 
       610        620        630        640        650
LPETTRPQEM MKIFAFANSL VELLAVGLET FNRARYRQFV KRIGYMIRMT 
       660        670        680        690        700
LGYVSDHWAQ YVSHNQGSGL AQQPYSMEKL QVEFDELFLR AVLHVLKAKR 
       710        720        730        740        750
LGIWLFMSEM PFGTLSVQML WKLFYLMHQV ESENLQQLSS SLQPAQCKQQ 
       760        770        780        790        800
LQDPEHFTNF EKCLSSMNSS EEICLLTTFA QMAQARRTNV DEDFIKIIVL 
       810        820        830        840        850
EIYEVSYVTL STRETFSKVG RELLGTITAV HPEIISVLLD RVQETIDQVG 
       860        870        880        890        900
MVSLYLFKEL PLYLWQPSAS EIAVIRDWLL NYNLTVVKNK LACVILEGLN 
       910        920        930        940        950
WGFAKQATLH LDQAVHAEVA LMVLEAYQKY LAQKPYAGIL SESMKQVSYL 
       960        970        980        990       1000
ASIVRYGETP ETSFNQWAWN LILRLKLHKN DYGIQPNCPA VPFSVTVPDM 
      1010       1020       1030       1040       1050
TESPTFHPLL KAVKAGMPIG CYLALSMTAV GHSIEKFCAE GIPLLGILVQ 
      1060       1070       1080       1090       1100
SRHLRTVVHV LDKILPLFYP CQYYLLKNEQ FLSHLLLFLH LDSGVPQGVT 
      1110       1120       1130       1140       1150
QQVTHKVAQH LTGASHGDNV KLLNSMIQAH ISVSTQPNEV GPVAVLEFWV 
      1160       1170       1180       1190       1200
QALISQHLWY REQPILFLMD HLCKAAFQLM QEDCIQKLLY QQHKNALGYH 
      1210       1220       1230       1240       1250
CDRSLLSSLV SWIVAGNITP SFVEGLATPT QVWFAWTVLN MESIFEEDSQ 
      1260       1270       1280       1290       1300
LRRVIEGELV INSAFTPDQA LKKAQTQLKL PIVPSLQRLL IYRWAHQALV 
      1310       1320       1330       1340       1350
TPSDHPLLPL IWQKFFLLYL HRPGPQYGLP IDGCIGRRFF QSPAHINLLK 
      1360       1370       1380       1390       1400
EMKRRLTEVA DFHHAASKAL RVPAEGSEGL PESHSGTPGY LTSPELHKEL 
      1410       1420       1430       1440       1450
VRLFNVYILW LEDENFQKGD TYIPSLPKHY DIHRLAKVMQ NQQDLWMEYL 
      1460       1470       1480       1490       1500
NMERIYHEFQ ETVGLWTQAK LESHSTPCSL SVQLDFTDPL LAKERVLSNL 
      1510       1520       1530       1540       1550
RKHEAPQPPL ALHPTKPPVP VISSAVLLSQ KDATQLVCTD LNLLQQQART 
      1560       1570       1580       1590       1600
AALRESQQVA LDGELLDTMP KQYVNREEQT TLHLECRGSS GKKCQGAAVV 
      1610       1620       1630       1640       1650
TVQFEGMHKN EAISQQLHVL RKEVKQLQAE AAKPPSLNIV EAAVHAENLI 
      1660       1670       1680       1690       1700
TALVNAYKLQ PTPGIQKVGI SLFFTIVDYV SDETQRHPPT RQFFTSCIEI 
      1710       1720       1730       1740       1750
LGQVFISGIK SECRKVLETI LKNSRLCSLL SPFFTPNAAP AEFIQLYEQV 
      1760       1770       1780       1790       1800
VKFLSEDNSD MIFMLLTKFD LKQWLSATKP PLSDRTRLLE SIHLALTAWG 
      1810       1820       1830       1840       1850
LEPDEDILMP FNLFCKHWTY LLLYQFPDQY SDILRLLMQS SAEQLLSPEC 
      1860       1870       1880       1890       1900
WKATLRALGC CAPSCQQGAA STEGAVLPSS SDALLSDKQV METIQWLSDF 
      1910       1920       1930       1940       1950
FYKLRLSKMD FKSFGLFSKW SPYMADVKTF LGYLVKRLID LEMTCLAQDP 
      1960       1970       1980       1990       2000
TASRKTVLKS LHSVIIQLFK PWILVLEDNE SSQQRHYPWL ESDTVVASSI 
      2010       2020       2030       2040       2050
VQLFTDCIDS LHESFKDKLL PGDAGALWLH LMHYCEACTA PKMPEFILYA 
      2060       2070       2080       2090       2100
FHSTYRKLPW KDLHPDQMLM EAFFKVERGS PKSCFLFLGS VLCEVNWVSV 
      2110       2120       2130       2140       2150
LSDAWNSSPH PETRSMIVCL LFMMILLAKE VQLVDQTDSP LLSLLGQTSS 
      2160       2170       2180       2190       2200
LSWHLVDIVS YQSVLSYFSS HYPPSIILAK ESYAELIMKL LKVSAGLSIP 
      2210       2220       2230       2240       2250
TDSQKHLDAV PKCQAFTHQM VQFLSTLEQN GKITLAVLEQ EMSKLLDDII 
      2260       2270       2280       2290       2300
VFNPPDMDSQ TRHMALSSLF MEVLMMMNNA TIPTAEFLRG SIRTWIGQKM 
      2310       2320       2330       2340       2350
HGLVVLPLLT AACQSLASVR HMAETTEACI TAYFKESPLN QNSGWGPILV 
      2360       2370       2380       2390       2400
SLQVPELTME EFLQECLTLG SYLTLYVYLL QCLNSEQTLR NEMKVLLILS 
      2410       2420       2430       2440       2450
KWLEQVYPSS VEEEAKLFLW WHQVLQLSLI QTEQNDSVLT ESVIRILLLV 
      2460       2470       2480       2490       2500
QSRQNLVAEE RLSSGILGAI GFGRKSPLSN RFRVVARSMA AFLSVQVPME 
      2510       2520       2530       2540       2550
DQIRLRPGSE LHLTPKAQQA LNALESMASS KQYVEYQDQI LQATQFIRHP 
      2560       2570 
GHCLQDGKSF LALLVNCLYP EVHYLDHIR
Length:2,579
Mass (Da):292,481
Last modified:October 2, 2007 - 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:iBE1179F6D4A1C6AB
GO
Isoform 2 (identifier: Q9HCE0-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2482-2579: Missing.

Show »
Length:2,481
Mass (Da):281,291
Checksum:i6750A13A5CDBBBA3
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
K7EM87K7EM87_HUMAN
Ectopic P granules protein 5 homolo...
EPG5
657Annotation 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>
K7EPN4K7EPN4_HUMAN
Ectopic P granules protein 5 homolo...
EPG5
856Annotation 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>
K7ENS1K7ENS1_HUMAN
Ectopic P granules protein 5 homolo...
EPG5
505Annotation 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>
K7ENK5K7ENK5_HUMAN
Ectopic P granules protein 5 homolo...
EPG5
336Annotation 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 BAB13458 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated
The sequence BAB14689 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.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 conflicti1201C → R in BAB14689 (PubMed:14702039).Curated1
Sequence conflicti1369A → V in BAB14689 (PubMed:14702039).Curated1
Sequence conflicti1444 – 1446DLW → VKL in BAB13458 (PubMed:10997877).Curated3
Sequence conflicti1711S → T in BAB14689 (PubMed:14702039).Curated1
Sequence conflicti2295W → S in BAB14689 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08136946 – 2579Missing in VICIS. 1 PublicationAdd BLAST2534
Natural variantiVAR_062210182K → E1 PublicationCorresponds to variant dbSNP:rs59422275EnsemblClinVar.1
Natural variantiVAR_081370299 – 2579Missing in VICIS. 1 PublicationAdd BLAST2281
Natural variantiVAR_069224336Q → R in VICIS; relatively mild phenotype characterized by absence or later onset of cardiac or immunologic features; a normally spliced transcript with the missense variant and multiple misspliced transcripts are detected in patient cells; results in 50% decrease of mRNA levels in patient cells most probably due to nonsense-mediated decay of misspliced transcripts. 3 PublicationsCorresponds to variant dbSNP:rs201757275EnsemblClinVar.1
Natural variantiVAR_081371417 – 2579Missing in VICIS. 1 PublicationAdd BLAST2163
Natural variantiVAR_081372457L → P in VICIS; unknown pathological significance; associated in cis with P-784. 1 PublicationCorresponds to variant dbSNP:rs746862679EnsemblClinVar.1
Natural variantiVAR_081373784Q → P in VICIS; unknown pathological significance; associated in cis with P-457. 1 PublicationCorresponds to variant dbSNP:rs754795342EnsemblClinVar.1
Natural variantiVAR_035278844E → D. Corresponds to variant dbSNP:rs3744999EnsemblClinVar.1
Natural variantiVAR_081374859 – 2579Missing in VICIS. 1 PublicationAdd BLAST1721
Natural variantiVAR_0352791058V → A. Corresponds to variant dbSNP:rs3744998EnsemblClinVar.1
Natural variantiVAR_0352801131I → V. Corresponds to variant dbSNP:rs3744997EnsemblClinVar.1
Natural variantiVAR_0813751161 – 2579Missing in VICIS. 2 PublicationsAdd BLAST1419
Natural variantiVAR_0813761336G → E in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1085308061EnsemblClinVar.1
Natural variantiVAR_0365251511A → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0352811511A → V. Corresponds to variant dbSNP:rs1893523EnsemblClinVar.1
Natural variantiVAR_0813771530 – 2579Missing in VICIS. 1 PublicationAdd BLAST1050
Natural variantiVAR_0813781584 – 2579Missing in VICIS. 1 PublicationAdd BLAST996
Natural variantiVAR_0813791595 – 2579Missing in VICIS. 1 PublicationAdd BLAST985
Natural variantiVAR_0813801827P → A in VICIS. 1 PublicationCorresponds to variant dbSNP:rs1568118775EnsemblClinVar.1
Natural variantiVAR_0352821864S → N. Corresponds to variant dbSNP:rs34064739EnsemblClinVar.1
Natural variantiVAR_0365261865C → Y in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1272061911Ensembl.1
Natural variantiVAR_0813811945 – 2579Missing in VICIS. 1 PublicationAdd BLAST635
Natural variantiVAR_0352831985R → Q. Corresponds to variant dbSNP:rs34674177EnsemblClinVar.1
Natural variantiVAR_0813821989 – 2579Missing in VICIS. 1 PublicationAdd BLAST591
Natural variantiVAR_0813831998 – 2579Missing in VICIS. 1 PublicationAdd BLAST582
Natural variantiVAR_0813842028 – 2579Missing in VICIS. 1 PublicationAdd BLAST552
Natural variantiVAR_0813852038C → R in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375057925EnsemblClinVar.1
Natural variantiVAR_0365272056R → W in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs116076204EnsemblClinVar.1
Natural variantiVAR_0813862078 – 2579Missing in VICIS. 1 PublicationAdd BLAST502
Natural variantiVAR_0813872092L → P in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1568104317EnsemblClinVar.1
Natural variantiVAR_0813882414E → K in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1568094451EnsemblClinVar.1
Natural variantiVAR_0813892445 – 2579Missing in VICIS. 1 PublicationAdd BLAST135
Natural variantiVAR_0813902483 – 2579Missing in VICIS. 2 PublicationsAdd BLAST97

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_0284352482 – 2579Missing in isoform 2. 2 PublicationsAdd BLAST98

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
AC087685 Genomic DNA No translation available.
AC090355 Genomic DNA No translation available.
AB046852 mRNA Translation: BAB13458.1 Different initiation.
AK023817 mRNA Translation: BAB14689.1 Sequence problems.
BC130614 mRNA Translation: AAI30615.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS11926.2 [Q9HCE0-1]

NCBI Reference Sequences

More...RefSeqi		NP_066015.2, NM_020964.2 [Q9HCE0-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000282041; ENSP00000282041; ENSG00000152223 [Q9HCE0-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		57724

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:57724

UCSC genome browser

More...UCSCi		uc002lbm.4, human [Q9HCE0-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC087685 Genomic DNA No translation available.
AC090355 Genomic DNA No translation available.
AB046852 mRNA Translation: BAB13458.1 Different initiation.
AK023817 mRNA Translation: BAB14689.1 Sequence problems.
BC130614 mRNA Translation: AAI30615.1
CCDSiCCDS11926.2 [Q9HCE0-1]
RefSeqiNP_066015.2, NM_020964.2 [Q9HCE0-1]

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi121746, 7 interactors
IntActiQ9HCE0, 3 interactors
MINTiQ9HCE0
STRINGi9606.ENSP00000282041

PTM databases

GlyConnecti2037, 6 N-Linked glycans (1 site)
GlyGeniQ9HCE0, 1 site, 6 N-linked glycans (1 site)
iPTMnetiQ9HCE0
PhosphoSitePlusiQ9HCE0

Polymorphism and mutation databases

BioMutaiEPG5
DMDMi158705892

Proteomic databases

EPDiQ9HCE0
jPOSTiQ9HCE0
MassIVEiQ9HCE0
MaxQBiQ9HCE0
PaxDbiQ9HCE0
PeptideAtlasiQ9HCE0
PRIDEiQ9HCE0
ProteomicsDBi81681 [Q9HCE0-1]
81682 [Q9HCE0-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22425, 72 antibodies

Genome annotation databases

EnsembliENST00000282041; ENSP00000282041; ENSG00000152223 [Q9HCE0-1]
GeneIDi57724
KEGGihsa:57724
UCSCiuc002lbm.4, human [Q9HCE0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		57724
DisGeNETi57724
EuPathDBiHostDB:ENSG00000152223.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		EPG5
HGNCiHGNC:29331, EPG5
HPAiENSG00000152223, Low tissue specificity
MalaCardsiEPG5
MIMi242840, phenotype
615068, gene
neXtProtiNX_Q9HCE0
OpenTargetsiENSG00000152223
Orphaneti1493, Vici syndrome
PharmGKBiPA134941500

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3622, Eukaryota
GeneTreeiENSGT00390000007354
HOGENOMiCLU_000773_0_0_1
InParanoidiQ9HCE0
OMAiFFEMAND
OrthoDBi42984at2759
PhylomeDBiQ9HCE0
TreeFamiTF313847

Enzyme and pathway databases

PathwayCommonsiQ9HCE0

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		57724, 22 hits in 851 CRISPR screens

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

More...ChiTaRSi		EPG5, human

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

More...GenomeRNAii		57724
PharosiQ9HCE0, Tbio

Protein Ontology

More...PROi		PR:Q9HCE0
RNActiQ9HCE0, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000152223, Expressed in sural nerve and 216 other tissues
ExpressionAtlasiQ9HCE0, baseline and differential
GenevisibleiQ9HCE0, HS

Family and domain databases

InterProiView protein in InterPro
IPR029651, EPG-5
PANTHERiPTHR31139:SF4, PTHR31139:SF4, 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 nameiEPG5_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: Q9HCE0
Secondary accession number(s): A2BDF3, Q9H8C8
<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: October 2, 2007
Last sequence update: October 2, 2007
Last modified: December 2, 2020
This is version 124 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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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