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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
6
Cytoband
q21
Chromosome location (bp)
106045423 - 106325791
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Involved in autophagic vesicle formation. Conjugation with ATG12, through a ubiquitin-like conjugating system involving ATG7 as an E1-like activating enzyme and ATG10 as an E2-like conjugating enzyme, is essential for its function. The ATG12-ATG5 conjugate acts as an E3-like enzyme which is required for lipidation of ATG8 family proteins and their association to the vesicle membranes. Involved in mitochondrial quality control after oxidative damage, and in subsequent cellular longevity. Plays a critical role in multiple aspects of lymphocyte development and is essential for both B and T lymphocyte survival and proliferation. Required for optimal processing and presentation of antigens for MHC II. Involved in the maintenance of axon morphology and membrane structures, as well as in normal adipocyte differentiation. Promotes primary ciliogenesis through removal of OFD1 from centriolar satellites and degradation of IFT20 via the autophagic pathway....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Several transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
A9UGY9 [Target identity:100%; Query identity:100%] Autophagy protein 5
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Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Q7Z3H3 [Direct mapping] Autophagy protein 5; Uncharacterized protein DKFZp686F0183
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
A9UGY9 [Target identity:100%; Query identity:100%] Autophagy protein 5
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Transporters Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000045[autophagosome assembly] GO:0000422[autophagy of mitochondrion] GO:0001974[blood vessel remodeling] GO:0002376[immune system process] GO:0002718[regulation of cytokine production involved in immune response] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005776[autophagosome] GO:0005829[cytosol] GO:0005930[axoneme] GO:0006497[protein lipidation] GO:0006501[C-terminal protein lipidation] GO:0006914[autophagy] GO:0006915[apoptotic process] GO:0006995[cellular response to nitrogen starvation] GO:0009267[cellular response to starvation] GO:0009410[response to xenobiotic stimulus] GO:0009620[response to fungus] GO:0010040[response to iron(II) ion] GO:0010659[cardiac muscle cell apoptotic process] GO:0010667[negative regulation of cardiac muscle cell apoptotic process] GO:0016020[membrane] GO:0016236[macroautophagy] GO:0016567[protein ubiquitination] GO:0019883[antigen processing and presentation of endogenous antigen] GO:0030424[axon] GO:0030670[phagocytic vesicle membrane] GO:0031397[negative regulation of protein ubiquitination] GO:0032480[negative regulation of type I interferon production] GO:0032991[protein-containing complex] GO:0034045[phagophore assembly site membrane] GO:0034274[Atg12-Atg5-Atg16 complex] GO:0035973[aggrephagy] GO:0039689[negative stranded viral RNA replication] GO:0042311[vasodilation] GO:0043066[negative regulation of apoptotic process] GO:0043687[post-translational protein modification] GO:0044233[mitochondria-associated endoplasmic reticulum membrane] GO:0044804[autophagy of nucleus] GO:0045060[negative thymic T cell selection] GO:0045824[negative regulation of innate immune response] GO:0048840[otolith development] GO:0050687[negative regulation of defense response to virus] GO:0050765[negative regulation of phagocytosis] GO:0051279[regulation of release of sequestered calcium ion into cytosol] GO:0051649[establishment of localization in cell] GO:0055015[ventricular cardiac muscle cell development] GO:0060047[heart contraction] GO:0060548[negative regulation of cell death] GO:0061684[chaperone-mediated autophagy] GO:0061739[protein lipidation involved in autophagosome assembly] GO:0070254[mucus secretion] GO:0070257[positive regulation of mucus secretion] GO:0071500[cellular response to nitrosative stress] GO:1901096[regulation of autophagosome maturation] GO:1902017[regulation of cilium assembly] GO:1902617[response to fluoride] GO:1904973[positive regulation of viral translation] GO:1990234[transferase complex] GO:2000377[regulation of reactive oxygen species metabolic process] GO:2000378[negative regulation of reactive oxygen species metabolic process] GO:2000619[negative regulation of histone H4-K16 acetylation]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Phobius predicted secreted proteins DeepTMHMM predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
