ID   ATG5_HUMAN              Reviewed;         275 AA.
AC   Q9H1Y0; O60875; Q5JVR2; Q68DI4; Q9H2B8; Q9HCZ7;
DT   16-NOV-2001, integrated into UniProtKB/Swiss-Prot.
DT   16-NOV-2001, sequence version 2.
DT   04-NOV-2008, entry version 61.
DE   RecName: Full=Autophagy protein 5;
DE   AltName: Full=APG5-like;
DE   AltName: Full=Apoptosis-specific protein;
GN   Name=ATG5; Synonyms=APG5L, ASP;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG).
RC   TISSUE=Fetal liver;
RX   MEDLINE=98222964; PubMed=9563500; DOI=10.1016/S0014-5793(98)00266-X;
RA   Hammond E.M., Brunet C.L., Johnson G.D., Parkhill J., Milner A.E.,
RA   Brady G., Gregory C.D., Grand R.J.A.;
RT   "Homology between a human apoptosis specific protein and the product
RT   of APG5, a gene involved in autophagy in yeast.";
RL   FEBS Lett. 425:391-395(1998).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
RA   Chen Y., Piao Y.J., Jiang Y.;
RT   "A novel splicing isoform of human APG5.";
RL   Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT).
RC   TISSUE=Fetal brain;
RG   The German cDNA consortium;
RL   Submitted (AUG-2004) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   MEDLINE=22935763; PubMed=14574404; DOI=10.1038/nature02055;
RA   Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA   Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
RA   Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
RA   Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
RA   Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
RA   Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
RA   Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
RA   Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA   Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA   Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA   Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
RA   Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
RA   Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
RA   Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
RA   Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
RA   Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
RA   Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
RA   Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
RA   Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
RA   Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
RA   Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA   Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
RA   McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
RA   Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
RA   Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
RA   Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
RA   Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
RA   Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
RA   Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
RA   Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
RA   Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
RA   Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
RA   Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
RT   "The DNA sequence and analysis of human chromosome 6.";
RL   Nature 425:805-811(2003).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
RC   TISSUE=Endometrium, and Placenta;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [6]
RP   FUNCTION IN APOPTOSIS.
RX   MEDLINE=95317378; PubMed=7796880; DOI=10.1006/excr.1995.1177;
RA   Grand R.J.A., Milner A.E., Mustoe T., Johnson G.D., Owen D.,
RA   Grant M.L., Gregory C.D.;
RT   "A novel protein expressed in mammalian cells undergoing apoptosis.";
RL   Exp. Cell Res. 218:439-451(1995).
RN   [7]
RP   CONJUGATION TO ATG12, AND MUTAGENESIS OF LYS-130.
RX   MEDLINE=99069367; PubMed=9852036; DOI=10.1074/jbc.273.51.33889;
RA   Mizushima N., Sugita H., Yoshimori T., Ohsumi Y.;
RT   "A new protein conjugation system in human. The counterpart of the
RT   yeast Apg12p conjugation system essential for autophagy.";
RL   J. Biol. Chem. 273:33889-33892(1998).
RN   [8]
RP   CONJUGATION TO ATG12, AND SUBCELLULAR LOCATION.
RC   TISSUE=Embryonic stem cell;
RX   MEDLINE=21167911; PubMed=11266458; DOI=10.1083/jcb.152.4.657;
RA   Mizushima N., Yamamoto A., Hatano M., Kobayashi Y., Kabeya Y.,
RA   Suzuki K., Tokuhisa T., Ohsumi Y., Yoshimori T.;
RT   "Dissection of autophagosome formation using Apg5-deficient mouse
RT   embryonic stem cells.";
RL   J. Cell Biol. 152:657-668(2001).
RN   [9]
RP   VARIANT [LARGE SCALE ANALYSIS] MET-58.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S.,
RA   Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J.,
RA   Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C.,
RA   Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N.,
RA   Vogelstein B., Kinzler K.W., Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal
RT   cancers.";
RL   Science 314:268-274(2006).
CC   -!- FUNCTION: Required for autophagy. Conjugates to ATG12 and
CC       associates with isolation membrane to form cup-shaped isolation
CC       membrane and autophagosome. The conjugate detaches from the
CC       membrane immediately before or after autophagosome formation is
CC       completed (By similarity).
CC   -!- FUNCTION: May play an important role in the apoptotic process,
CC       possibly within the modified cytoskeleton. Its expression is a
CC       relatively late event in the apoptotic process, occurring
CC       downstream of caspase activity.
CC   -!- INTERACTION:
CC       O94817:ATG12; NbExp=1; IntAct=EBI-1047414, EBI-746742;
CC   -!- SUBCELLULAR LOCATION: Cytoplasm. Note=Colocalizes with nonmuscle
CC       actin.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=Long;
CC         IsoId=Q9H1Y0-1; Sequence=Displayed;
CC       Name=Short; Synonyms=APG5beta;
CC         IsoId=Q9H1Y0-2; Sequence=VSP_003791;
CC   -!- TISSUE SPECIFICITY: Ubiquitous. The mRNA is present at similar
CC       levels in viable and apoptotic cells, whereas the protein is
CC       dramatically highly expressed in apoptotic cells.
CC   -!- INDUCTION: By apoptotic stimuli.
CC   -!- PTM: Conjugated to ATG12; which is essential for autophagy, but is
CC       not required for association with isolation membrane.
CC   -!- SIMILARITY: Belongs to the ATG5 family.
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DR   EMBL; Y11588; CAA72327.1; -; mRNA.
DR   EMBL; AF293841; AAG44955.1; -; mRNA.
DR   EMBL; CR749386; CAH18236.1; -; mRNA.
DR   EMBL; AL022067; CAI42297.1; -; Genomic_DNA.
DR   EMBL; AL133509; CAI42297.1; JOINED; Genomic_DNA.
DR   EMBL; AL138917; CAI42297.1; JOINED; Genomic_DNA.
DR   EMBL; AL022067; CAI42298.1; -; Genomic_DNA.
DR   EMBL; AL133509; CAI42298.1; JOINED; Genomic_DNA.
DR   EMBL; AL138917; CAI42298.1; JOINED; Genomic_DNA.
DR   EMBL; AL133509; CAC19459.2; -; Genomic_DNA.
DR   EMBL; AL022067; CAC19459.2; JOINED; Genomic_DNA.
DR   EMBL; AL138917; CAC19459.2; JOINED; Genomic_DNA.
DR   EMBL; AL133509; CAI42831.1; -; Genomic_DNA.
DR   EMBL; AL022067; CAI42831.1; JOINED; Genomic_DNA.
DR   EMBL; AL138917; CAI42831.1; JOINED; Genomic_DNA.
DR   EMBL; AL138917; CAI20313.1; -; Genomic_DNA.
DR   EMBL; AL133509; CAI20313.1; JOINED; Genomic_DNA.
DR   EMBL; AL022067; CAI20313.1; JOINED; Genomic_DNA.
DR   EMBL; AL138917; CAI20314.1; -; Genomic_DNA.
DR   EMBL; AL022067; CAI20314.1; JOINED; Genomic_DNA.
DR   EMBL; AL133509; CAI20314.1; JOINED; Genomic_DNA.
DR   EMBL; BC002699; AAH02699.1; -; mRNA.
DR   EMBL; BC093011; AAH93011.1; -; mRNA.
DR   RefSeq; NP_004840.1; -.
DR   UniGene; Hs.486063; -.
DR   IntAct; Q9H1Y0; -.
DR   Ensembl; ENSG00000057663; Homo sapiens.
DR   GeneID; 9474; -.
DR   KEGG; hsa:9474; -.
DR   H-InvDB; HIX0006100; -.
DR   HGNC; HGNC:589; ATG5.
DR   MIM; 604261; gene.
DR   PharmGKB; PA24880; -.
DR   HOGENOM; Q9H1Y0; -.
DR   HOVERGEN; Q9H1Y0; -.
DR   LinkHub; Q9H1Y0; -.
DR   NextBio; 35504; -.
DR   ArrayExpress; Q9H1Y0; -.
DR   CleanEx; HS_ATG5; -.
DR   GermOnline; ENSG00000057663; Homo sapiens.
DR   GO; GO:0005776; C:autophagic vacuole; IDA:MGI.
DR   GO; GO:0005515; F:protein binding; IPI:UniProtKB.
DR   GO; GO:0000045; P:autophagosome formation; ISS:UniProtKB.
DR   GO; GO:0043687; P:post-translational protein modification; ISS:UniProtKB.
DR   InterPro; IPR007239; Autophagy_prot_5.
DR   PANTHER; PTHR13040; APG5; 1.
DR   Pfam; PF04106; APG5; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Apoptosis; Autophagy; Cytoplasm; Polymorphism;
KW   Ubl conjugation.
FT   CHAIN         1    275       Autophagy protein 5.
FT                                /FTId=PRO_0000218994.
FT   CROSSLNK    130    130       Glycyl lysine isopeptide (Lys-Gly)
FT                                (interchain with G-Cter in ATG12) (By
FT                                similarity).
FT   VAR_SEQ       1     79       MTDDKDVLRDVWFGRIPTCFTLYQDEITEREAEPYYLLLPR
FT                                VSYLTLVTDKVKKHFQKVMRQEDISEIWFEYEGTPLKW ->
FT                                M (in isoform Short).
FT                                /FTId=VSP_003791.
FT   VARIANT      58     58       K -> M (in a colorectal cancer sample;
FT                                somatic mutation).
FT                                /FTId=VAR_036243.
FT   MUTAGEN     130    130       K->R: Loss of conjugation.
FT   CONFLICT     79     79       W -> M (in Ref. 4; CAC19459).
SQ   SEQUENCE   275 AA;  32447 MW;  C33A1E0B3C1DBE5C CRC64;
     MTDDKDVLRD VWFGRIPTCF TLYQDEITER EAEPYYLLLP RVSYLTLVTD KVKKHFQKVM
     RQEDISEIWF EYEGTPLKWH YPIGLLFDLL ASSSALPWNI TVHFKSFPEK DLLHCPSKDA
     IEAHFMSCMK EADALKHKSQ VINEMQKKDH KQLWMGLQND RFDQFWAINR KLMEYPAEEN
     GFRYIPFRIY QTTTERPFIQ KLFRPVAADG QLHTLGDLLK EVCPSAIDPE DGEKKNQVMI
     HGIEPMLETP LQWLSEHLSY PDNFLHISII PQPTD
//