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    ATG4A autophagy related 4A cysteine peptidase [ Homo sapiens (human) ]

    Gene ID: 115201, updated on 7-May-2017
    Official Symbol
    ATG4Aprovided by HGNC
    Official Full Name
    autophagy related 4A cysteine peptidaseprovided by HGNC
    Primary source
    HGNC:HGNC:16489
    See related
    Ensembl:ENSG00000101844 MIM:300663; Vega:OTTHUMG00000022176
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    APG4A; AUTL2
    Summary
    Autophagy is the process by which endogenous proteins and damaged organelles are destroyed intracellularly. Autophagy is postulated to be essential for cell homeostasis and cell remodeling during differentiation, metamorphosis, non-apoptotic cell death, and aging. Reduced levels of autophagy have been described in some malignant tumors, and a role for autophagy in controlling the unregulated cell growth linked to cancer has been proposed. This gene encodes a member of the autophagin protein family. The encoded protein is also designated as a member of the C-54 family of cysteine proteases. [provided by RefSeq, Mar 2016]
    Orthologs
    Location:
    Xq22.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) X NC_000023.11 (108088900..108154671)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (107334899..107397901)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene NACHT, LRR and PYD domains-containing protein 10-like Neighboring gene NLR family pyrin domain containing 3 pseudogene 1 Neighboring gene testis expressed 13B Neighboring gene V-set and immunoglobulin domain containing 1 Neighboring gene proteasome 26S subunit, non-ATPase 10 Neighboring gene collagen type IV alpha 6 chain Neighboring gene collagen type IV alpha 5 chain

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif binds more strongly to autophagy-related protein 4 (ATG4)-cleaved form I (LC3-I) than to ATG4-cleaved form II (LC3-II) in an A3G-independent manner PubMed

    Go to the HIV-1, Human Interaction Database

    • Autophagy - animal, organism-specific biosystem (from KEGG)
      Autophagy - animal, organism-specific biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
    • Autophagy - animal, conserved biosystem (from KEGG)
      Autophagy - animal, conserved biosystemAutophagy (or macroautophagy) is a cellular catabolic pathway involving in protein degradation, organelle turnover, and non-selective breakdown of cytoplasmic components, which is evolutionarily cons...
    • Autophagy - other, organism-specific biosystem (from KEGG)
      Autophagy - other, organism-specific biosystemAutophagy is a degradative pathway for the removal of cytoplasmic materials in eukaryotic cells, and is characterized by the formation of a double-membrane structure called the autophagosome, either ...
    • Autophagy - other, conserved biosystem (from KEGG)
      Autophagy - other, conserved biosystemAutophagy is a degradative pathway for the removal of cytoplasmic materials in eukaryotic cells, and is characterized by the formation of a double-membrane structure called the autophagosome, either ...
    • Cellular responses to stress, organism-specific biosystem (from REACTOME)
      Cellular responses to stress, organism-specific biosystemCells are subject to external molecular and physical stresses such as foreign molecules that perturb metabolic or signaling processes, and changes in temperature or pH. The ability of cells and tissu...
    • Macroautophagy, organism-specific biosystem (from REACTOME)
      Macroautophagy, organism-specific biosystemMacroautophagy (hereafter referred to as autophagy) acts as a buffer against starvation by liberating building materials and energy sources from cellular components. It has additional roles in embryo...
    • Nanoparticle triggered autophagic cell death, organism-specific biosystem (from WikiPathways)
      Nanoparticle triggered autophagic cell death, organism-specific biosystemProgrammed cell death: autophagic cell death. Autophagy (self-eating) is a survival mechanism deployed by cells to cope with conditions of nutrient deprivation. However, unrestrained autophagy can re...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cysteine-type endopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cysteine-type peptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    C-terminal protein lipidation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    mitophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    nucleophagy IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein delipidation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    protein targeting to membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    cytoplasm ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    cysteine protease ATG4A
    Names
    APG4 autophagy 4 homolog A
    ATG4 autophagy related 4 homolog A
    AUT-like 2, cysteine endopeptidase
    autophagin 2
    autophagy-related cysteine endopeptidase 2
    autophagy-related protein 4 homolog A
    hAPG4A
    NP_001308216.1
    NP_001308217.1
    NP_001308218.1
    NP_001308219.1
    NP_443168.2
    NP_840054.1
    NP_840055.1
    XP_011529143.1
    XP_011529144.1

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001321287.1NP_001308216.1  cysteine protease ATG4A isoform c

      Status: REVIEWED

      Source sequence(s)
      AL031177
      UniProtKB/Swiss-Prot
      Q8WYN0
      Conserved Domains (1) summary
      pfam03416
      Location:1258
      Peptidase_C54; Peptidase family C54
    2. NM_001321288.1NP_001308217.1  cysteine protease ATG4A isoform c

      Status: REVIEWED

      Source sequence(s)
      AL031177
      UniProtKB/Swiss-Prot
      Q8WYN0
      Conserved Domains (1) summary
      pfam03416
      Location:1258
      Peptidase_C54; Peptidase family C54
    3. NM_001321289.1NP_001308218.1  cysteine protease ATG4A isoform d

      Status: REVIEWED

      Source sequence(s)
      AA648264, AK293533, AL031177, BC041862, BC061696
      UniProtKB/Swiss-Prot
      Q8WYN0
      UniProtKB/TrEMBL
      B4DEA4
      Conserved Domains (1) summary
      pfam03416
      Location:1196
      Peptidase_C54; Peptidase family C54
    4. NM_001321290.1NP_001308219.1  cysteine protease ATG4A isoform e

      Status: REVIEWED

      Source sequence(s)
      AL031177
      Conserved Domains (1) summary
      pfam03416
      Location:1163
      Peptidase_C54; Peptidase family C54
    5. NM_052936.4NP_443168.2  cysteine protease ATG4A isoform a

      See identical proteins and their annotated locations for NP_443168.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (a).
      Source sequence(s)
      AA648264, BC041862, BC061696
      Consensus CDS
      CCDS14538.1
      UniProtKB/Swiss-Prot
      Q8WYN0
      Related
      ENSP00000361306.3, OTTHUMP00000023821, ENST00000372232.7, OTTHUMT00000057860
      Conserved Domains (1) summary
      pfam03416
      Location:43335
      Peptidase_C54; Peptidase family C54
    6. NM_178270.3NP_840054.1  cysteine protease ATG4A isoform b

      See identical proteins and their annotated locations for NP_840054.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) encodes isoform b.
      Source sequence(s)
      AA648264, AJ320509, BC041862, BC061696
      Consensus CDS
      CCDS14539.1
      UniProtKB/Swiss-Prot
      Q8WYN0
      Related
      ENSP00000298131.5, OTTHUMP00000023822, ENST00000345734.7, OTTHUMT00000057861
      Conserved Domains (1) summary
      pfam03416
      Location:43273
      Peptidase_C54; Peptidase family C54
    7. NM_178271.2NP_840055.1  cysteine protease ATG4A isoform c

      Status: REVIEWED

      Source sequence(s)
      AA648264, BC041862, BC061696, BM541631
      UniProtKB/Swiss-Prot
      Q8WYN0
      Conserved Domains (1) summary
      pfam03416
      Location:1258
      Peptidase_C54; Peptidase family C54

    RNA

    1. NR_135608.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AL031177
      Related
      ENST00000343524.9, OTTHUMT00000057863

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p7 Primary Assembly

      Range
      108088900..108154671
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530841.2XP_011529143.1  cysteine protease ATG4A isoform X1

      See identical proteins and their annotated locations for XP_011529143.1

      Conserved Domains (1) summary
      pfam03416
      Location:47277
      Peptidase_C54; Peptidase family C54
    2. XM_011530842.1XP_011529144.1  cysteine protease ATG4A isoform X2

      See identical proteins and their annotated locations for XP_011529144.1

      UniProtKB/Swiss-Prot
      Q8WYN0
      Conserved Domains (1) summary
      pfam03416
      Location:1258
      Peptidase_C54; Peptidase family C54

    Alternate CHM1_1.1

    Genomic

    1. NC_018934.2 Alternate CHM1_1.1

      Range
      107245773..107308734
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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