UniProtKB - Q9HCE0 (EPG5_HUMAN)
Protein
Ectopic P granules protein 5 homolog
Gene
EPG5
Organism
Homo sapiens (Human)
Status
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
GO - Biological processi
- autophagosome maturation Source: GO_Central
- autophagy Source: GO_Central
- cellular response to dsDNA Source: UniProtKB
- endocytic recycling Source: Ensembl
- endosome to lysosome transport Source: UniProtKB
- nucleotide transport Source: UniProtKB
- toll-like receptor 9 signaling pathway Source: UniProtKB
Keywordsi
Biological process | Autophagy |
Enzyme and pathway databases
PathwayCommonsi | Q9HCE0 |
Names & Taxonomyi
Protein namesi | Recommended name: Ectopic P granules protein 5 homolog |
Gene namesi | Name:EPG5 Synonyms:KIAA1632 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000152223.12 |
HGNCi | HGNC:29331, EPG5 |
MIMi | 615068, gene |
neXtProti | NX_Q9HCE0 |
Subcellular locationi
Lysosome
- Lysosome 1 Publication
Other locations
- perinuclear region 1 Publication
Lysosome
- lysosome Source: UniProtKB
Other locations
- cytoplasm Source: GO_Central
- perinuclear region of cytoplasm Source: UniProtKB
Keywords - Cellular componenti
Cytoplasm, LysosomePathology & Biotechi
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 OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081369 | 46 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 2534 | |
Natural variantiVAR_081370 | 299 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 2281 | |
Natural variantiVAR_069224 | 336 | Q → 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_081371 | 417 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 2163 | |
Natural variantiVAR_081372 | 457 | L → P in VICIS; unknown pathological significance; associated in cis with P-784. 1 PublicationCorresponds to variant dbSNP:rs746862679EnsemblClinVar. | 1 | |
Natural variantiVAR_081373 | 784 | Q → P in VICIS; unknown pathological significance; associated in cis with P-457. 1 PublicationCorresponds to variant dbSNP:rs754795342EnsemblClinVar. | 1 | |
Natural variantiVAR_081374 | 859 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 1721 | |
Natural variantiVAR_081375 | 1161 – 2579 | Missing in VICIS. 2 PublicationsAdd BLAST | 1419 | |
Natural variantiVAR_081376 | 1336 | G → E in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1085308061EnsemblClinVar. | 1 | |
Natural variantiVAR_081377 | 1530 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 1050 | |
Natural variantiVAR_081378 | 1584 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 996 | |
Natural variantiVAR_081379 | 1595 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 985 | |
Natural variantiVAR_081380 | 1827 | P → A in VICIS. 1 PublicationCorresponds to variant dbSNP:rs1568118775EnsemblClinVar. | 1 | |
Natural variantiVAR_081381 | 1945 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 635 | |
Natural variantiVAR_081382 | 1989 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 591 | |
Natural variantiVAR_081383 | 1998 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 582 | |
Natural variantiVAR_081384 | 2028 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 552 | |
Natural variantiVAR_081385 | 2038 | C → R in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375057925EnsemblClinVar. | 1 | |
Natural variantiVAR_081386 | 2078 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 502 | |
Natural variantiVAR_081387 | 2092 | L → P in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1568104317EnsemblClinVar. | 1 | |
Natural variantiVAR_081388 | 2414 | E → K in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1568094451EnsemblClinVar. | 1 | |
Natural variantiVAR_081389 | 2445 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 135 | |
Natural variantiVAR_081390 | 2483 – 2579 | Missing in VICIS. 2 PublicationsAdd BLAST | 97 |
Keywords - Diseasei
Cataract, Disease mutationOrganism-specific databases
DisGeNETi | 57724 |
MalaCardsi | EPG5 |
MIMi | 242840, phenotype |
OpenTargetsi | ENSG00000152223 |
Orphaneti | 1493, Vici syndrome |
PharmGKBi | PA134941500 |
Miscellaneous databases
Pharosi | Q9HCE0, Tbio |
Polymorphism and mutation databases
BioMutai | EPG5 |
DMDMi | 158705892 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000306255 | 1 – 2579 | Ectopic P granules protein 5 homologAdd BLAST | 2579 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 134 | PhosphothreonineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q9HCE0 |
jPOSTi | Q9HCE0 |
MassIVEi | Q9HCE0 |
MaxQBi | Q9HCE0 |
PaxDbi | Q9HCE0 |
PeptideAtlasi | Q9HCE0 |
PRIDEi | Q9HCE0 |
ProteomicsDBi | 81681 [Q9HCE0-1] 81682 [Q9HCE0-2] |
PTM databases
GlyConnecti | 2037, 6 N-Linked glycans (1 site) |
GlyGeni | Q9HCE0, 1 site, 6 N-linked glycans (1 site) |
iPTMneti | Q9HCE0 |
PhosphoSitePlusi | Q9HCE0 |
Expressioni
Gene expression databases
Bgeei | ENSG00000152223, Expressed in sural nerve and 216 other tissues |
ExpressionAtlasi | Q9HCE0, baseline and differential |
Genevisiblei | Q9HCE0, HS |
Organism-specific databases
HPAi | ENSG00000152223, Low tissue specificity |
Interactioni
Subunit structurei
Interacts with RAN.
1 PublicationProtein-protein interaction databases
BioGRIDi | 121746, 7 interactors |
IntActi | Q9HCE0, 3 interactors |
MINTi | Q9HCE0 |
STRINGi | 9606.ENSP00000282041 |
Miscellaneous databases
RNActi | Q9HCE0, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 1607 – 1633 | Sequence analysisAdd BLAST | 27 |
Sequence similaritiesi
Belongs to the EPG5 family.Curated
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | KOG3622, Eukaryota |
GeneTreei | ENSGT00390000007354 |
HOGENOMi | CLU_000773_0_0_1 |
InParanoidi | Q9HCE0 |
OMAi | FFEMAND |
OrthoDBi | 42984at2759 |
PhylomeDBi | Q9HCE0 |
TreeFami | TF313847 |
Family and domain databases
InterProi | View protein in InterPro IPR029651, EPG-5 |
PANTHERi | PTHR31139:SF4, PTHR31139:SF4, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis 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 sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketK7EM87 | K7EM87_HUMAN | Ectopic P granules protein 5 homolo... | EPG5 | 657 | Annotation score: | ||
K7EPN4 | K7EPN4_HUMAN | Ectopic P granules protein 5 homolo... | EPG5 | 856 | Annotation score: | ||
K7ENS1 | K7ENS1_HUMAN | Ectopic P granules protein 5 homolo... | EPG5 | 505 | Annotation score: | ||
K7ENK5 | K7ENK5_HUMAN | Ectopic P granules protein 5 homolo... | EPG5 | 336 | Annotation score: |
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 key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 1201 | C → R in BAB14689 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1369 | A → V in BAB14689 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 1444 – 1446 | DLW → VKL in BAB13458 (PubMed:10997877).Curated | 3 | |
Sequence conflicti | 1711 | S → T in BAB14689 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 2295 | W → S in BAB14689 (PubMed:14702039).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_081369 | 46 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 2534 | |
Natural variantiVAR_062210 | 182 | K → E1 PublicationCorresponds to variant dbSNP:rs59422275EnsemblClinVar. | 1 | |
Natural variantiVAR_081370 | 299 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 2281 | |
Natural variantiVAR_069224 | 336 | Q → 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_081371 | 417 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 2163 | |
Natural variantiVAR_081372 | 457 | L → P in VICIS; unknown pathological significance; associated in cis with P-784. 1 PublicationCorresponds to variant dbSNP:rs746862679EnsemblClinVar. | 1 | |
Natural variantiVAR_081373 | 784 | Q → P in VICIS; unknown pathological significance; associated in cis with P-457. 1 PublicationCorresponds to variant dbSNP:rs754795342EnsemblClinVar. | 1 | |
Natural variantiVAR_035278 | 844 | E → D. Corresponds to variant dbSNP:rs3744999EnsemblClinVar. | 1 | |
Natural variantiVAR_081374 | 859 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 1721 | |
Natural variantiVAR_035279 | 1058 | V → A. Corresponds to variant dbSNP:rs3744998EnsemblClinVar. | 1 | |
Natural variantiVAR_035280 | 1131 | I → V. Corresponds to variant dbSNP:rs3744997EnsemblClinVar. | 1 | |
Natural variantiVAR_081375 | 1161 – 2579 | Missing in VICIS. 2 PublicationsAdd BLAST | 1419 | |
Natural variantiVAR_081376 | 1336 | G → E in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1085308061EnsemblClinVar. | 1 | |
Natural variantiVAR_036525 | 1511 | A → T in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_035281 | 1511 | A → V. Corresponds to variant dbSNP:rs1893523EnsemblClinVar. | 1 | |
Natural variantiVAR_081377 | 1530 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 1050 | |
Natural variantiVAR_081378 | 1584 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 996 | |
Natural variantiVAR_081379 | 1595 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 985 | |
Natural variantiVAR_081380 | 1827 | P → A in VICIS. 1 PublicationCorresponds to variant dbSNP:rs1568118775EnsemblClinVar. | 1 | |
Natural variantiVAR_035282 | 1864 | S → N. Corresponds to variant dbSNP:rs34064739EnsemblClinVar. | 1 | |
Natural variantiVAR_036526 | 1865 | C → Y in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs1272061911Ensembl. | 1 | |
Natural variantiVAR_081381 | 1945 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 635 | |
Natural variantiVAR_035283 | 1985 | R → Q. Corresponds to variant dbSNP:rs34674177EnsemblClinVar. | 1 | |
Natural variantiVAR_081382 | 1989 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 591 | |
Natural variantiVAR_081383 | 1998 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 582 | |
Natural variantiVAR_081384 | 2028 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 552 | |
Natural variantiVAR_081385 | 2038 | C → R in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375057925EnsemblClinVar. | 1 | |
Natural variantiVAR_036527 | 2056 | R → W in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs116076204EnsemblClinVar. | 1 | |
Natural variantiVAR_081386 | 2078 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 502 | |
Natural variantiVAR_081387 | 2092 | L → P in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1568104317EnsemblClinVar. | 1 | |
Natural variantiVAR_081388 | 2414 | E → K in VICIS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1568094451EnsemblClinVar. | 1 | |
Natural variantiVAR_081389 | 2445 – 2579 | Missing in VICIS. 1 PublicationAdd BLAST | 135 | |
Natural variantiVAR_081390 | 2483 – 2579 | Missing in VICIS. 2 PublicationsAdd BLAST | 97 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_028435 | 2482 – 2579 | Missing in isoform 2. 2 PublicationsAdd BLAST | 98 |
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 |
CCDSi | CCDS11926.2 [Q9HCE0-1] |
RefSeqi | NP_066015.2, NM_020964.2 [Q9HCE0-1] |
Genome annotation databases
Ensembli | ENST00000282041; ENSP00000282041; ENSG00000152223 [Q9HCE0-1] |
GeneIDi | 57724 |
KEGGi | hsa:57724 |
UCSCi | uc002lbm.4, human [Q9HCE0-1] |
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
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 |
CCDSi | CCDS11926.2 [Q9HCE0-1] |
RefSeqi | NP_066015.2, NM_020964.2 [Q9HCE0-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 121746, 7 interactors |
IntActi | Q9HCE0, 3 interactors |
MINTi | Q9HCE0 |
STRINGi | 9606.ENSP00000282041 |
PTM databases
GlyConnecti | 2037, 6 N-Linked glycans (1 site) |
GlyGeni | Q9HCE0, 1 site, 6 N-linked glycans (1 site) |
iPTMneti | Q9HCE0 |
PhosphoSitePlusi | Q9HCE0 |
Polymorphism and mutation databases
BioMutai | EPG5 |
DMDMi | 158705892 |
Proteomic databases
EPDi | Q9HCE0 |
jPOSTi | Q9HCE0 |
MassIVEi | Q9HCE0 |
MaxQBi | Q9HCE0 |
PaxDbi | Q9HCE0 |
PeptideAtlasi | Q9HCE0 |
PRIDEi | Q9HCE0 |
ProteomicsDBi | 81681 [Q9HCE0-1] 81682 [Q9HCE0-2] |
Protocols and materials databases
Antibodypediai | 22425, 72 antibodies |
Genome annotation databases
Ensembli | ENST00000282041; ENSP00000282041; ENSG00000152223 [Q9HCE0-1] |
GeneIDi | 57724 |
KEGGi | hsa:57724 |
UCSCi | uc002lbm.4, human [Q9HCE0-1] |
Organism-specific databases
CTDi | 57724 |
DisGeNETi | 57724 |
EuPathDBi | HostDB:ENSG00000152223.12 |
GeneCardsi | EPG5 |
HGNCi | HGNC:29331, EPG5 |
HPAi | ENSG00000152223, Low tissue specificity |
MalaCardsi | EPG5 |
MIMi | 242840, phenotype 615068, gene |
neXtProti | NX_Q9HCE0 |
OpenTargetsi | ENSG00000152223 |
Orphaneti | 1493, Vici syndrome |
PharmGKBi | PA134941500 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3622, Eukaryota |
GeneTreei | ENSGT00390000007354 |
HOGENOMi | CLU_000773_0_0_1 |
InParanoidi | Q9HCE0 |
OMAi | FFEMAND |
OrthoDBi | 42984at2759 |
PhylomeDBi | Q9HCE0 |
TreeFami | TF313847 |
Enzyme and pathway databases
PathwayCommonsi | Q9HCE0 |
Miscellaneous databases
BioGRID-ORCSi | 57724, 22 hits in 851 CRISPR screens |
ChiTaRSi | EPG5, human |
GenomeRNAii | 57724 |
Pharosi | Q9HCE0, Tbio |
PROi | PR:Q9HCE0 |
RNActi | Q9HCE0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000152223, Expressed in sural nerve and 216 other tissues |
ExpressionAtlasi | Q9HCE0, baseline and differential |
Genevisiblei | Q9HCE0, HS |
Family and domain databases
InterProi | View protein in InterPro IPR029651, EPG-5 |
PANTHERi | PTHR31139:SF4, PTHR31139:SF4, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | EPG5_HUMAN | |
Accessioni | Q9HCE0Primary (citable) accession number: Q9HCE0 Secondary accession number(s): A2BDF3, Q9H8C8 | |
Entry historyi | Integrated 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. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human chromosome 18
Human chromosome 18: entries, gene names and cross-references to MIM - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations