Q9H1Y0 (ATG5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Autophagy protein 5

Alternative name(s):
APG5-like
Apoptosis-specific protein

Gene names

Name:	ATG5
Synonyms:	APG5L, ASP

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	275 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Required for autophagy. Conjugates to ATG12 and associates with isolation membrane to form cup-shaped isolation membrane and autophagosome. The conjugate detaches from the membrane immediately before or after autophagosome formation is completed By similarity. Ref.6 May play an important role in the apoptotic process, possibly within the modified cytoskeleton. Its expression is a relatively late event in the apoptotic process, occurring downstream of caspase activity. Ref.6
Subcellular location	Cytoplasm. Note: Colocalizes with nonmuscle actin. Ref.8
Tissue specificity	Ubiquitous. The mRNA is present at similar levels in viable and apoptotic cells, whereas the protein is dramatically highly expressed in apoptotic cells.
Induction	By apoptotic stimuli.
Post-translational modification	Conjugated to ATG12; which is essential for autophagy, but is not required for association with isolation membrane.
Sequence similarities	Belongs to the ATG5 family.

Ontologies

Keywords
Biological process	Apoptosis Autophagy
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
PTM	Isopeptide bond Ubl conjugation
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	apoptotic process Inferred from electronic annotation. Source: UniProtKB-KW autophagic vacuole assembly Inferred from sequence or structural similarity. Source: UniProtKB innate immune response Traceable author statement. Source: Reactome negative regulation of type I interferon production Traceable author statement. Source: Reactome post-translational protein modification Inferred from sequence or structural similarity. Source: UniProtKB
Cellular component	autophagic vacuole Inferred from direct assay. Source: MGI pre-autophagosomal structure membrane Inferred from sequence or structural similarity. Source: UniProtKB
Molecular function	protein binding Inferred from physical interaction Ref.7. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
GABARAP	O95166	2	EBI-1047414,EBI-712001
MAP1LC3B	Q9GZQ8	2	EBI-1047414,EBI-373144
TECPR1	Q7Z6L1	6	EBI-1047414,EBI-2946676
WDFY3	Q8IZQ1	6	EBI-1047414,EBI-1569256

Alternative products

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

Isoform Long (identifier: Q9H1Y0-1)

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 Short (identifier: Q9H1Y0-2)

Also known as: APG5beta;

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: MTDDKDVLRD...FEYEGTPLKW → M

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 275	275	Autophagy protein 5		PRO_0000218994
Amino acid modifications
	Cross-link	130		Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ATG12) Probable
Natural variations
	Alternative sequence	1 – 79	79	MTDDK…TPLKW → M in isoform Short.		VSP_003791
	Natural variant	58	1	K → M in a colorectal cancer sample; somatic mutation. Ref.10		VAR_036243
Experimental info
	Mutagenesis	130	1	K → R: Loss of conjugation. Ref.7
	Sequence conflict	79	1	W → M in CAC19459. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform Long [UniParc]. Last modified November 16, 2001. Version 2. Checksum: C33A1E0B3C1DBE5C	FASTA	275	32,447
	10 20 30 40 50 60 MTDDKDVLRD VWFGRIPTCF TLYQDEITER EAEPYYLLLP RVSYLTLVTD KVKKHFQKVM 70 80 90 100 110 120 RQEDISEIWF EYEGTPLKWH YPIGLLFDLL ASSSALPWNI TVHFKSFPEK DLLHCPSKDA 130 140 150 160 170 180 IEAHFMSCMK EADALKHKSQ VINEMQKKDH KQLWMGLQND RFDQFWAINR KLMEYPAEEN 190 200 210 220 230 240 GFRYIPFRIY QTTTERPFIQ KLFRPVAADG QLHTLGDLLK EVCPSAIDPE DGEKKNQVMI 250 260 270 HGIEPMLETP LQWLSEHLSY PDNFLHISII PQPTD
	Isoform Short (APG5beta) [UniParc]. Checksum: 05FC581F6EABB753	FASTA	197	22,931
	10 20 30 40 50 60 MHYPIGLLFD LLASSSALPW NITVHFKSFP EKDLLHCPSK DAIEAHFMSC MKEADALKHK 70 80 90 100 110 120 SQVINEMQKK DHKQLWMGLQ NDRFDQFWAI NRKLMEYPAE ENGFRYIPFR IYQTTTERPF 130 140 150 160 170 180 IQKLFRPVAA DGQLHTLGDL LKEVCPSAID PEDGEKKNQV MIHGIEPMLE TPLQWLSEHL 190 SYPDNFLHIS IIPQPTD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Homology between a human apoptosis specific protein and the product of APG5, a gene involved in autophagy in yeast." Hammond E.M., Brunet C.L., Johnson G.D., Parkhill J., Milner A.E., Brady G., Gregory C.D., Grand R.J.A. FEBS Lett. 425:391-395(1998) [PubMed: 9563500] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG). Tissue: Fetal liver.
[2]	"A novel splicing isoform of human APG5." Chen Y., Piao Y.J., Jiang Y. Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM SHORT).
[3]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM SHORT). Tissue: Fetal brain.
[4]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed: 14574404] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG). Tissue: Endometrium and Placenta.
[6]	"A novel protein expressed in mammalian cells undergoing apoptosis." Grand R.J.A., Milner A.E., Mustoe T., Johnson G.D., Owen D., Grant M.L., Gregory C.D. Exp. Cell Res. 218:439-451(1995) [PubMed: 7796880] [Abstract] Cited for: FUNCTION IN APOPTOSIS.
[7]	"A new protein conjugation system in human. The counterpart of the yeast Apg12p conjugation system essential for autophagy." Mizushima N., Sugita H., Yoshimori T., Ohsumi Y. J. Biol. Chem. 273:33889-33892(1998) [PubMed: 9852036] [Abstract] Cited for: CONJUGATION TO ATG12 AT LYS-130, MUTAGENESIS OF LYS-130.
[8]	"Dissection of autophagosome formation using Apg5-deficient mouse embryonic stem cells." Mizushima N., Yamamoto A., Hatano M., Kobayashi Y., Kabeya Y., Suzuki K., Tokuhisa T., Ohsumi Y., Yoshimori T. J. Cell Biol. 152:657-668(2001) [PubMed: 11266458] [Abstract] Cited for: CONJUGATION TO ATG12, SUBCELLULAR LOCATION. Tissue: Embryonic stem cell.
[9]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[10]	"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: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] MET-58.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	Y11588 mRNA. Translation: CAA72327.1. AF293841 mRNA. Translation: AAG44955.1. CR749386 mRNA. Translation: CAH18236.1. AL022067, AL133509, AL138917 Genomic DNA. Translation: CAI42297.1. AL022067, AL133509, AL138917 Genomic DNA. Translation: CAI42298.1. AL133509, AL022067, AL138917 Genomic DNA. Translation: CAC19459.2. AL133509, AL022067, AL138917 Genomic DNA. Translation: CAI42831.1. AL138917, AL133509, AL022067 Genomic DNA. Translation: CAI20313.1. AL138917, AL022067, AL133509 Genomic DNA. Translation: CAI20314.1. BC002699 mRNA. Translation: AAH02699.1. BC093011 mRNA. Translation: AAH93011.1.
IPI	IPI00006800. IPI00220640.
RefSeq	NP_004840.1. NM_004849.2.
UniGene	Hs.486063.
3D structure databases
ProteinModelPortal	Q9H1Y0.
SMR	Q9H1Y0. Positions 2-271.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-29758N.
IntAct	Q9H1Y0. 31 interactions.
STRING	Q9H1Y0.
Polymorphism databases
DMDM	17366828.
Proteomic databases
PRIDE	Q9H1Y0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000343245; ENSP00000343313; ENSG00000057663. ENST00000369076; ENSP00000358072; ENSG00000057663.
GeneID	9474.
KEGG	hsa:9474.
UCSC	uc003prf.1. human. uc003prg.1. human.
Organism-specific databases
CTD	9474.
GeneCards	GC06M106632.
H-InvDB	HIX0006100.
HGNC	HGNC:589. ATG5.
HPA	CAB034432.
MIM	604261. gene.
neXtProt	NX_Q9H1Y0.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG14455.
GeneTree	ENSGT00390000004766.
HOGENOM	HBG378773.
HOVERGEN	HBG018731.
InParanoid	Q9H1Y0.
OMA	HFKNFPE.
OrthoDB	EOG4T783Z.
PhylomeDB	Q9H1Y0.
Enzyme and pathway databases
Reactome	REACT_6900. Immune System.
Gene expression databases
ArrayExpress	Q9H1Y0.
Bgee	Q9H1Y0.
CleanEx	HS_ATG5.
Genevestigator	Q9H1Y0.
GermOnline	ENSG00000057663. Homo sapiens.
Family and domain databases
InterPro	IPR007239. Autophagy-rel_prot_5. [Graphical view]
KO	K08339.
PANTHER	PTHR13040. APG5. 1 hit.
Pfam	PF04106. APG5. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	35504.
SOURCE	Search...

Entry information

Entry name

ATG5_HUMAN

Accession

Primary (citable) accession number: Q9H1Y0
Secondary accession number(s): O60875 , Q5JVR2, Q68DI4, Q9H2B8, Q9HCZ7

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 16, 2001
Last sequence update:	November 16, 2001
Last modified:	January 25, 2012
This is version 95 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.