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Entry version 112 (10 Apr 2019)
Sequence version 2 (02 Oct 2007)
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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

  • autophagosome maturation Source: GO_Central
  • autophagy Source: GO_Central

<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

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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Ectopic P granules protein 5 homolog
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:EPG5
Synonyms:KIAA1632
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 18

Organism-specific databases

Eukaryotic Pathogen 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.
See also OMIM:242840
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 Publication1
Natural variantiVAR_081373784Q → P in VICIS; unknown pathological significance; associated in cis with P-457. 1 Publication1
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 Publication1
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 Publication1
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 Publication1
Natural variantiVAR_0813862078 – 2579Missing in VICIS. 1 PublicationAdd BLAST502
Natural variantiVAR_0813872092L → P in VICIS; unknown pathological significance. 1 Publication1
Natural variantiVAR_0813882414E → K in VICIS; unknown pathological significance. 1 Publication1
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

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.<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

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 human proteome resource

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

PTM databases

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 202 organ(s), highest expression level in stomach

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q9HCE0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9HCE0 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA031689

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

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

Interacts with RAN.1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
121746, 2 interactors

Protein interaction database and analysis system

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IntActi
Q9HCE0, 2 interactors

Molecular INTeraction database

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MINTi
Q9HCE0

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000282041

<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

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9HCE0

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
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

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
ENOG410XUQ7 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000007354

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG108040

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q9HCE0

Identification of Orthologs from Complete Genome Data

More...
OMAi
QLFKPWI

Database of Orthologous Groups

More...
OrthoDBi
1222373at2759

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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

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

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 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 'canonical' 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
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>
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>
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>
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>

<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. Translation N-terminally shortened.Curated
The sequence BAB14689 differs from that shown. Reason: Erroneous termination at position 1159. Translated as Trp.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 Publication1
Natural variantiVAR_081373784Q → P in VICIS; unknown pathological significance; associated in cis with P-457. 1 Publication1
Natural variantiVAR_035278844E → D. Corresponds to variant dbSNP:rs3744999Ensembl.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 Publication1
Natural variantiVAR_0365251511A → T in a breast cancer sample; somatic mutation. 1 Publication1
Natural variantiVAR_0352811511A → V. Corresponds to variant dbSNP:rs1893523Ensembl.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 Publication1
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 Publication1
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 Publication1
Natural variantiVAR_0813882414E → K in VICIS; unknown pathological significance. 1 Publication1
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

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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

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

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.514843

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000282041; ENSP00000282041; ENSG00000152223 [Q9HCE0-1]
ENST00000649336; ENSP00000497269; 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]
UniGeneiHs.514843

3D structure databases

ProteinModelPortaliQ9HCE0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi121746, 2 interactors
IntActiQ9HCE0, 2 interactors
MINTiQ9HCE0
STRINGi9606.ENSP00000282041

PTM databases

iPTMnetiQ9HCE0
PhosphoSitePlusiQ9HCE0

Polymorphism and mutation databases

BioMutaiEPG5
DMDMi158705892

Proteomic databases

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

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000282041; ENSP00000282041; ENSG00000152223 [Q9HCE0-1]
ENST00000649336; ENSP00000497269; 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

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0014424
HGNCiHGNC:29331 EPG5
HPAiHPA031689
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
ENOG410XUQ7 LUCA
GeneTreeiENSGT00390000007354
HOVERGENiHBG108040
InParanoidiQ9HCE0
OMAiQLFKPWI
OrthoDBi1222373at2759
PhylomeDBiQ9HCE0
TreeFamiTF313847

Miscellaneous databases

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

Protein Ontology

More...
PROi
PR:Q9HCE0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000152223 Expressed in 202 organ(s), highest expression level in stomach
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...

<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_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 2, 2007
Last modified: April 10, 2019
This is version 112 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

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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 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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