Format

Send to:

Choose Destination

ATG3 autophagy related 3 [ Homo sapiens (human) ]

Gene ID: 64422, updated on 15-Apr-2019

Summary

Official Symbol
ATG3provided by HGNC
Official Full Name
autophagy related 3provided by HGNC
Primary source
HGNC:HGNC:20962
See related
Ensembl:ENSG00000144848 MIM:609606
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
APG3; APG3L; PC3-96; APG3-LIKE
Summary
This gene encodes a ubiquitin-like-conjugating enzyme and is a component of ubiquitination-like systems involved in autophagy, the process of degradation, turnover and recycling of cytoplasmic constituents in eukaryotic cells. This protein is known to play a role in regulation of autophagy during cell death. A pseudogene of this gene is located on chromosome 20. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]
Expression
Ubiquitous expression in testis (RPKM 24.5), bone marrow (RPKM 17.6) and 25 other tissues See more
Orthologs

Genomic context

See ATG3 in Genome Data Viewer
Location:
3q13.2
Exon count:
11
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (112532507..112561963, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (112251354..112280810, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene B and T lymphocyte associated Neighboring gene olfactory receptor family 7 subfamily E member 100 pseudogene Neighboring gene solute carrier family 35 member A5 Neighboring gene uncharacterized LOC112268447 Neighboring gene long intergenic non-protein coding RNA 1279 Neighboring gene coiled-coil domain containing 80

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations.
NHGRI GWA Catalog

Pathways from BioSystems

  • 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...
  • Senescence and Autophagy in Cancer, organism-specific biosystem (from WikiPathways)
    Senescence and Autophagy in Cancer, organism-specific biosystemSenescense and Autophagy Pathways in Cancer

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22125, MGC15201, DKFZp564M1178

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Atg12 transferase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Atg8 ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Atg8 ligase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enzyme binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin-like protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
autophagy of mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular protein modification process IDA
Inferred from Direct Assay
more info
PubMed 
macroautophagy TAS
Traceable Author Statement
more info
 
mitochondrial fragmentation involved in apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of phagocytosis IEA
Inferred from Electronic Annotation
more info
 
protein targeting to membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
cytoplasmic ubiquitin ligase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic ubiquitin ligase complex IPI
Inferred from Physical Interaction
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ubiquitin-like-conjugating enzyme ATG3
Names
2610016C12Rik
APG3 autophagy 3-like
ATG3 autophagy related 3 homolog
autophagy-related protein 3
hApg3

NCBI Reference Sequences (RefSeq)

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_001278712.1NP_001265641.1  ubiquitin-like-conjugating enzyme ATG3 isoform 2

    See identical proteins and their annotated locations for NP_001265641.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a 3' terminal exon that extends past a splice site that is used in variant 1 that results in an early stop codon and a different 3' UTR, compared to variant 1. It encodes a protein which is shorter at the C-terminus (isoform 2), compared to isoform 1.
    Source sequence(s)
    AA448974, AC092692, AK025778, AK308919, BC002830
    Consensus CDS
    CCDS63721.1
    UniProtKB/Swiss-Prot
    Q9NT62
    Related
    ENSP00000385943.2, ENST00000402314.6
    Conserved Domains (2) summary
    pfam03986
    Location:8135
    Autophagy_N; Autophagocytosis associated protein (Atg3), N-terminal domain
    pfam03987
    Location:204265
    Autophagy_act_C; Autophagocytosis associated protein, active-site domain
  2. NM_022488.4NP_071933.2  ubiquitin-like-conjugating enzyme ATG3 isoform 1

    See identical proteins and their annotated locations for NP_071933.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC092692, AW408464, BC024221, DC311625
    Consensus CDS
    CCDS2966.1
    UniProtKB/Swiss-Prot
    Q9NT62
    Related
    ENSP00000283290.5, ENST00000283290.9
    Conserved Domains (3) summary
    pfam03986
    Location:8135
    Autophagy_N; Autophagocytosis associated protein (Atg3), N-terminal domain
    pfam03987
    Location:204265
    Autophagy_act_C; Autophagocytosis associated protein, active-site domain
    pfam10381
    Location:286309
    Autophagy_C; Autophagocytosis associated protein C-terminal

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

    Range
    112532507..112561963 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513074.1XP_011511376.1  ubiquitin-like-conjugating enzyme ATG3 isoform X1

    Conserved Domains (3) summary
    pfam03986
    Location:1248
    Autophagy_N; Autophagocytosis associated protein (Atg3), N-terminal domain
    pfam03987
    Location:117178
    Autophagy_act_C; Autophagocytosis associated protein, active-site domain
    pfam10381
    Location:199222
    Autophagy_C; Autophagocytosis associated protein C-terminal
Support Center