Q9HCE0 (EPG5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Ectopic P granules protein 5 homolog

Gene names

Name:	EPG5
Synonyms:	KIAA1632

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	2579 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Involved in autophagy. May play a role in a late step of autophagy, such as clearance of autophagosomal cargo. Ref.5 Ref.7
Involvement in disease	Vici syndrome (VICIS) [MIM:242840]: A 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. Note: 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 (Ref.7). Ref.7
Sequence similarities	Belongs to the EPG5 family.
Sequence caution	The sequence BAB13458.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened. The sequence BAB14689.1 differs from that shown. Reason: Erroneous termination at position 1159. Translated as Trp.

Ontologies

Keywords
Biological process	Autophagy
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Cataract
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	autophagy Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9HCE0-1)

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.

Isoform 2 (identifier: Q9HCE0-2)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 2579	2579	Ectopic P granules protein 5 homolog		PRO_0000306255
Regions
	Coiled coil	1607 – 1633	27	Potential
Natural variations
	Alternative sequence	2482 – 2579	98	Missing in isoform 2.		VSP_028435
	Natural variant	182	1	K → E. Ref.2 Corresponds to variant rs59422275 [ dbSNP | Ensembl ].		VAR_062210
	Natural variant	336	1	Q → R in VICIS. Ref.7 Corresponds to variant rs201757275 [ dbSNP | Ensembl ].		VAR_069224
	Natural variant	844	1	E → D. Corresponds to variant rs3744999 [ dbSNP | Ensembl ].		VAR_035278
	Natural variant	1058	1	V → A. Corresponds to variant rs3744998 [ dbSNP | Ensembl ].		VAR_035279
	Natural variant	1131	1	I → V. Corresponds to variant rs3744997 [ dbSNP | Ensembl ].		VAR_035280
	Natural variant	1511	1	A → T in a breast cancer sample; somatic mutation. Ref.6		VAR_036525
	Natural variant	1511	1	A → V. Corresponds to variant rs1893523 [ dbSNP | Ensembl ].		VAR_035281
	Natural variant	1864	1	S → N. Corresponds to variant rs34064739 [ dbSNP | Ensembl ].		VAR_035282
	Natural variant	1865	1	C → Y in a breast cancer sample; somatic mutation. Ref.6		VAR_036526
	Natural variant	1985	1	R → Q. Corresponds to variant rs34674177 [ dbSNP | Ensembl ].		VAR_035283
	Natural variant	2056	1	R → W in a breast cancer sample; somatic mutation. Ref.6		VAR_036527
Experimental info
	Sequence conflict	1201	1	C → R in BAB14689. Ref.3
	Sequence conflict	1369	1	A → V in BAB14689. Ref.3
	Sequence conflict	1444 – 1446	3	DLW → VKL in BAB13458. Ref.2
	Sequence conflict	1711	1	S → T in BAB14689. Ref.3
	Sequence conflict	2295	1	W → S in BAB14689. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 2, 2007. Version 2. Checksum: BE1179F6D4A1C6AB	FASTA	2,579	292,481
	10 20 30 40 50 60 MAEAVKPQRR AKAKASRTKT KEKKKYETPQ REESSEVSLP KTSREQEIPS LACEFKGDHL 70 80 90 100 110 120 KVVTDSQLQD DASGQNESEM FDVPLTSLTI SNEESLTCNT EPPKEGGEAR PCVGDSAVTP 130 140 150 160 170 180 KVHPGDNVGT KVETPKNFTE VEENMSVQGG LSESAPQSNF SYTQPAMENI QVRETQNSKE 190 200 210 220 230 240 DKQGLVCSSE VPQNVGLQSS CPAKHGFQTP RVKKLYPQLP AEIAGEAPAL VAVKPLLRSE 250 260 270 280 290 300 RLYPELPSQL ELVPFTKEQL KILEPGSWLE NVESYLEEFD SMAHQDRHEF YELLLNYSRC 310 320 330 340 350 360 RKQLLLAEAE LLTLTSDCQN AKSRLWQFKE EQMSVQGICA DQVKVFSYHR YQRVEMNENA 370 380 390 400 410 420 LVELKKLFDA KSEHLHQTLA LHSYTSVLSR LQVESYIYAL LSSSAVLRSS AIHQQGRASK 430 440 450 460 470 480 QTESIPSDLC QLKECISVLF MFTRRVNEDT QFHDDILLWL QKLVSVLQRV GCPGDHLFLL 490 500 510 520 530 540 NHILRCPAGV SKWAVPFIQI KVLHNPSGVF HFMQSLALLM SPVKNRAEFM CHMKPSERKP 550 560 570 580 590 600 SSSGPGSGTW TLVDEGGEED EDPETSWILL NEDDLVTILA QFPFHELFQH LLGFKAKGDY 610 620 630 640 650 660 LPETTRPQEM MKIFAFANSL VELLAVGLET FNRARYRQFV KRIGYMIRMT LGYVSDHWAQ 670 680 690 700 710 720 YVSHNQGSGL AQQPYSMEKL QVEFDELFLR AVLHVLKAKR LGIWLFMSEM PFGTLSVQML 730 740 750 760 770 780 WKLFYLMHQV ESENLQQLSS SLQPAQCKQQ LQDPEHFTNF EKCLSSMNSS EEICLLTTFA 790 800 810 820 830 840 QMAQARRTNV DEDFIKIIVL EIYEVSYVTL STRETFSKVG RELLGTITAV HPEIISVLLD 850 860 870 880 890 900 RVQETIDQVG MVSLYLFKEL PLYLWQPSAS EIAVIRDWLL NYNLTVVKNK LACVILEGLN 910 920 930 940 950 960 WGFAKQATLH LDQAVHAEVA LMVLEAYQKY LAQKPYAGIL SESMKQVSYL ASIVRYGETP 970 980 990 1000 1010 1020 ETSFNQWAWN LILRLKLHKN DYGIQPNCPA VPFSVTVPDM TESPTFHPLL KAVKAGMPIG 1030 1040 1050 1060 1070 1080 CYLALSMTAV GHSIEKFCAE GIPLLGILVQ SRHLRTVVHV LDKILPLFYP CQYYLLKNEQ 1090 1100 1110 1120 1130 1140 FLSHLLLFLH LDSGVPQGVT QQVTHKVAQH LTGASHGDNV KLLNSMIQAH ISVSTQPNEV 1150 1160 1170 1180 1190 1200 GPVAVLEFWV QALISQHLWY REQPILFLMD HLCKAAFQLM QEDCIQKLLY QQHKNALGYH 1210 1220 1230 1240 1250 1260 CDRSLLSSLV SWIVAGNITP SFVEGLATPT QVWFAWTVLN MESIFEEDSQ LRRVIEGELV 1270 1280 1290 1300 1310 1320 INSAFTPDQA LKKAQTQLKL PIVPSLQRLL IYRWAHQALV TPSDHPLLPL IWQKFFLLYL 1330 1340 1350 1360 1370 1380 HRPGPQYGLP IDGCIGRRFF QSPAHINLLK EMKRRLTEVA DFHHAASKAL RVPAEGSEGL 1390 1400 1410 1420 1430 1440 PESHSGTPGY LTSPELHKEL VRLFNVYILW LEDENFQKGD TYIPSLPKHY DIHRLAKVMQ 1450 1460 1470 1480 1490 1500 NQQDLWMEYL NMERIYHEFQ ETVGLWTQAK LESHSTPCSL SVQLDFTDPL LAKERVLSNL 1510 1520 1530 1540 1550 1560 RKHEAPQPPL ALHPTKPPVP VISSAVLLSQ KDATQLVCTD LNLLQQQART AALRESQQVA 1570 1580 1590 1600 1610 1620 LDGELLDTMP KQYVNREEQT TLHLECRGSS GKKCQGAAVV TVQFEGMHKN EAISQQLHVL 1630 1640 1650 1660 1670 1680 RKEVKQLQAE AAKPPSLNIV EAAVHAENLI TALVNAYKLQ PTPGIQKVGI SLFFTIVDYV 1690 1700 1710 1720 1730 1740 SDETQRHPPT RQFFTSCIEI LGQVFISGIK SECRKVLETI LKNSRLCSLL SPFFTPNAAP 1750 1760 1770 1780 1790 1800 AEFIQLYEQV VKFLSEDNSD MIFMLLTKFD LKQWLSATKP PLSDRTRLLE SIHLALTAWG 1810 1820 1830 1840 1850 1860 LEPDEDILMP FNLFCKHWTY LLLYQFPDQY SDILRLLMQS SAEQLLSPEC WKATLRALGC 1870 1880 1890 1900 1910 1920 CAPSCQQGAA STEGAVLPSS SDALLSDKQV METIQWLSDF FYKLRLSKMD FKSFGLFSKW 1930 1940 1950 1960 1970 1980 SPYMADVKTF LGYLVKRLID LEMTCLAQDP TASRKTVLKS LHSVIIQLFK PWILVLEDNE 1990 2000 2010 2020 2030 2040 SSQQRHYPWL ESDTVVASSI VQLFTDCIDS LHESFKDKLL PGDAGALWLH LMHYCEACTA 2050 2060 2070 2080 2090 2100 PKMPEFILYA FHSTYRKLPW KDLHPDQMLM EAFFKVERGS PKSCFLFLGS VLCEVNWVSV 2110 2120 2130 2140 2150 2160 LSDAWNSSPH PETRSMIVCL LFMMILLAKE VQLVDQTDSP LLSLLGQTSS LSWHLVDIVS 2170 2180 2190 2200 2210 2220 YQSVLSYFSS HYPPSIILAK ESYAELIMKL LKVSAGLSIP TDSQKHLDAV PKCQAFTHQM 2230 2240 2250 2260 2270 2280 VQFLSTLEQN GKITLAVLEQ EMSKLLDDII VFNPPDMDSQ TRHMALSSLF MEVLMMMNNA 2290 2300 2310 2320 2330 2340 TIPTAEFLRG SIRTWIGQKM HGLVVLPLLT AACQSLASVR HMAETTEACI TAYFKESPLN 2350 2360 2370 2380 2390 2400 QNSGWGPILV SLQVPELTME EFLQECLTLG SYLTLYVYLL QCLNSEQTLR NEMKVLLILS 2410 2420 2430 2440 2450 2460 KWLEQVYPSS VEEEAKLFLW WHQVLQLSLI QTEQNDSVLT ESVIRILLLV QSRQNLVAEE 2470 2480 2490 2500 2510 2520 RLSSGILGAI GFGRKSPLSN RFRVVARSMA AFLSVQVPME DQIRLRPGSE LHLTPKAQQA 2530 2540 2550 2560 2570 LNALESMASS KQYVEYQDQI LQATQFIRHP GHCLQDGKSF LALLVNCLYP EVHYLDHIR
	Isoform 2 [UniParc]. Checksum: 6750A13A5CDBBBA3	FASTA	2,481	281,291
	10 20 30 40 50 60 MAEAVKPQRR AKAKASRTKT KEKKKYETPQ REESSEVSLP KTSREQEIPS LACEFKGDHL 70 80 90 100 110 120 KVVTDSQLQD DASGQNESEM FDVPLTSLTI SNEESLTCNT EPPKEGGEAR PCVGDSAVTP 130 140 150 160 170 180 KVHPGDNVGT KVETPKNFTE VEENMSVQGG LSESAPQSNF SYTQPAMENI QVRETQNSKE 190 200 210 220 230 240 DKQGLVCSSE VPQNVGLQSS CPAKHGFQTP RVKKLYPQLP AEIAGEAPAL VAVKPLLRSE 250 260 270 280 290 300 RLYPELPSQL ELVPFTKEQL KILEPGSWLE NVESYLEEFD SMAHQDRHEF YELLLNYSRC 310 320 330 340 350 360 RKQLLLAEAE LLTLTSDCQN AKSRLWQFKE EQMSVQGICA DQVKVFSYHR YQRVEMNENA 370 380 390 400 410 420 LVELKKLFDA KSEHLHQTLA LHSYTSVLSR LQVESYIYAL LSSSAVLRSS AIHQQGRASK 430 440 450 460 470 480 QTESIPSDLC QLKECISVLF MFTRRVNEDT QFHDDILLWL QKLVSVLQRV GCPGDHLFLL 490 500 510 520 530 540 NHILRCPAGV SKWAVPFIQI KVLHNPSGVF HFMQSLALLM SPVKNRAEFM CHMKPSERKP 550 560 570 580 590 600 SSSGPGSGTW TLVDEGGEED EDPETSWILL NEDDLVTILA QFPFHELFQH LLGFKAKGDY 610 620 630 640 650 660 LPETTRPQEM MKIFAFANSL VELLAVGLET FNRARYRQFV KRIGYMIRMT LGYVSDHWAQ 670 680 690 700 710 720 YVSHNQGSGL AQQPYSMEKL QVEFDELFLR AVLHVLKAKR LGIWLFMSEM PFGTLSVQML 730 740 750 760 770 780 WKLFYLMHQV ESENLQQLSS SLQPAQCKQQ LQDPEHFTNF EKCLSSMNSS EEICLLTTFA 790 800 810 820 830 840 QMAQARRTNV DEDFIKIIVL EIYEVSYVTL STRETFSKVG RELLGTITAV HPEIISVLLD 850 860 870 880 890 900 RVQETIDQVG MVSLYLFKEL PLYLWQPSAS EIAVIRDWLL NYNLTVVKNK LACVILEGLN 910 920 930 940 950 960 WGFAKQATLH LDQAVHAEVA LMVLEAYQKY LAQKPYAGIL SESMKQVSYL ASIVRYGETP 970 980 990 1000 1010 1020 ETSFNQWAWN LILRLKLHKN DYGIQPNCPA VPFSVTVPDM TESPTFHPLL KAVKAGMPIG 1030 1040 1050 1060 1070 1080 CYLALSMTAV GHSIEKFCAE GIPLLGILVQ SRHLRTVVHV LDKILPLFYP CQYYLLKNEQ 1090 1100 1110 1120 1130 1140 FLSHLLLFLH LDSGVPQGVT QQVTHKVAQH LTGASHGDNV KLLNSMIQAH ISVSTQPNEV 1150 1160 1170 1180 1190 1200 GPVAVLEFWV QALISQHLWY REQPILFLMD HLCKAAFQLM QEDCIQKLLY QQHKNALGYH 1210 1220 1230 1240 1250 1260 CDRSLLSSLV SWIVAGNITP SFVEGLATPT QVWFAWTVLN MESIFEEDSQ LRRVIEGELV 1270 1280 1290 1300 1310 1320 INSAFTPDQA LKKAQTQLKL PIVPSLQRLL IYRWAHQALV TPSDHPLLPL IWQKFFLLYL 1330 1340 1350 1360 1370 1380 HRPGPQYGLP IDGCIGRRFF QSPAHINLLK EMKRRLTEVA DFHHAASKAL RVPAEGSEGL 1390 1400 1410 1420 1430 1440 PESHSGTPGY LTSPELHKEL VRLFNVYILW LEDENFQKGD TYIPSLPKHY DIHRLAKVMQ 1450 1460 1470 1480 1490 1500 NQQDLWMEYL NMERIYHEFQ ETVGLWTQAK LESHSTPCSL SVQLDFTDPL LAKERVLSNL 1510 1520 1530 1540 1550 1560 RKHEAPQPPL ALHPTKPPVP VISSAVLLSQ KDATQLVCTD LNLLQQQART AALRESQQVA 1570 1580 1590 1600 1610 1620 LDGELLDTMP KQYVNREEQT TLHLECRGSS GKKCQGAAVV TVQFEGMHKN EAISQQLHVL 1630 1640 1650 1660 1670 1680 RKEVKQLQAE AAKPPSLNIV EAAVHAENLI TALVNAYKLQ PTPGIQKVGI SLFFTIVDYV 1690 1700 1710 1720 1730 1740 SDETQRHPPT RQFFTSCIEI LGQVFISGIK SECRKVLETI LKNSRLCSLL SPFFTPNAAP 1750 1760 1770 1780 1790 1800 AEFIQLYEQV VKFLSEDNSD MIFMLLTKFD LKQWLSATKP PLSDRTRLLE SIHLALTAWG 1810 1820 1830 1840 1850 1860 LEPDEDILMP FNLFCKHWTY LLLYQFPDQY SDILRLLMQS SAEQLLSPEC WKATLRALGC 1870 1880 1890 1900 1910 1920 CAPSCQQGAA STEGAVLPSS SDALLSDKQV METIQWLSDF FYKLRLSKMD FKSFGLFSKW 1930 1940 1950 1960 1970 1980 SPYMADVKTF LGYLVKRLID LEMTCLAQDP TASRKTVLKS LHSVIIQLFK PWILVLEDNE 1990 2000 2010 2020 2030 2040 SSQQRHYPWL ESDTVVASSI VQLFTDCIDS LHESFKDKLL PGDAGALWLH LMHYCEACTA 2050 2060 2070 2080 2090 2100 PKMPEFILYA FHSTYRKLPW KDLHPDQMLM EAFFKVERGS PKSCFLFLGS VLCEVNWVSV 2110 2120 2130 2140 2150 2160 LSDAWNSSPH PETRSMIVCL LFMMILLAKE VQLVDQTDSP LLSLLGQTSS LSWHLVDIVS 2170 2180 2190 2200 2210 2220 YQSVLSYFSS HYPPSIILAK ESYAELIMKL LKVSAGLSIP TDSQKHLDAV PKCQAFTHQM 2230 2240 2250 2260 2270 2280 VQFLSTLEQN GKITLAVLEQ EMSKLLDDII VFNPPDMDSQ TRHMALSSLF MEVLMMMNNA 2290 2300 2310 2320 2330 2340 TIPTAEFLRG SIRTWIGQKM HGLVVLPLLT AACQSLASVR HMAETTEACI TAYFKESPLN 2350 2360 2370 2380 2390 2400 QNSGWGPILV SLQVPELTME EFLQECLTLG SYLTLYVYLL QCLNSEQTLR NEMKVLLILS 2410 2420 2430 2440 2450 2460 KWLEQVYPSS VEEEAKLFLW WHQVLQLSLI QTEQNDSVLT ESVIRILLLV QSRQNLVAEE 2470 2480 RLSSGILGAI GFGRKSPLSN R

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"DNA sequence and analysis of human chromosome 18." Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S. Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]	"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-1446 (ISOFORMS 1/2), VARIANT GLU-182. Tissue: Brain.
[3]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1075-2579 (ISOFORM 2). Tissue: Placenta.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1124-2579 (ISOFORM 2).
[5]	"C. elegans screen identifies autophagy genes specific to multicellular organisms." Tian Y., Li Z., Hu W., Ren H., Tian E., Zhao Y., Lu Q., Huang X., Yang P., Li X., Wang X., Kovacs A.L., Yu L., Zhang H. Cell 141:1042-1055(2010) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION.
[6]	"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E. Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS [LARGE SCALE ANALYSIS] THR-1511; TYR-1865 AND TRP-2056.
[7]	"Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy." Cullup T., Kho A.L., Dionisi-Vici C., Brandmeier B., Smith F., Urry Z., Simpson M.A., Yau S., Bertini E., McClelland V., Al-Owain M., Koelker S., Koerner C., Hoffmann G.F., Wijburg F.A., ten Hoedt A.E., Rogers R.C., Manchester D. , Miyata R., Hayashi M., Said E., Soler D., Kroisel P.M., Windpassinger C., Filloux F.M., Al-Kaabi S., Hertecant J., Del Campo M., Buk S., Bodi I., Goebel H.H., Sewry C.A., Abbs S., Mohammed S., Josifova D., Gautel M., Jungbluth H. Nat. Genet. 45:83-87(2013) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT VICIS ARG-336, FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00288958. IPI00790360.
RefSeq	NP_066015.2. NM_020964.2.
UniGene	Hs.514843.
3D structure databases
ProteinModelPortal	Q9HCE0.
ModBase	Search...
Protein-protein interaction databases
MINT	MINT-1199425.
STRING	9606.ENSP00000282041.
PTM databases
PhosphoSite	Q9HCE0.
Polymorphism databases
DMDM	158705892.
Proteomic databases
PaxDb	Q9HCE0.
PRIDE	Q9HCE0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000282041; ENSP00000282041; ENSG00000152223.
GeneID	57724.
KEGG	hsa:57724.
UCSC	uc002lbm.3. human.
Organism-specific databases
CTD	57724.
GeneCards	GC18M043428.
H-InvDB	HIX0014424.
HGNC	HGNC:29331. EPG5.
HPA	HPA031689.
MIM	242840. phenotype. 615068. gene.
neXtProt	NX_Q9HCE0.
PharmGKB	PA134941500.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG307154.
HOVERGEN	HBG108040.
InParanoid	Q9HCE0.
OMA	VFNPPDM.
OrthoDB	EOG4V6ZFP.
Gene expression databases
ArrayExpress	Q9HCE0.
Bgee	Q9HCE0.
CleanEx	HS_KIAA1632.
Genevestigator	Q9HCE0.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	57724.
NextBio	64668.
SOURCE	Search...

Entry information

Entry name

EPG5_HUMAN

Accession

Primary (citable) accession number: Q9HCE0
Secondary accession number(s): A2BDF3, Q9H8C8

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 2, 2007
Last sequence update:	October 2, 2007
Last modified:	May 1, 2013
This is version 67 of the entry and version 2 of the sequence. [Complete history]

Entry status

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.