ATG101 Gene (Protein Coding)

Autophagy Related 101

GC12P052069
GIFtS:
36
See more...

Aliases for ATG101 Gene

Aliases for ATG101 Gene

  • Autophagy Related 101 2 3 5
  • Autophagy-Related Protein 101 3 4
  • C12orf44 3 4
  • Chromosome 12 Open Reading Frame 44 2
  • Atg13-Interacting Protein 3
  • FLJ11773 2
  • ATG101 5

External Ids for ATG101 Gene

Previous HGNC Symbols for ATG101 Gene

  • C12orf44

Previous GeneCards Identifiers for ATG101 Gene

  • GC12P052464

Summaries for ATG101 Gene

GeneCards Summary for ATG101 Gene

ATG101 (Autophagy Related 101) is a Protein Coding gene. Diseases associated with ATG101 include Huntington Disease. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Macroautophagy. Gene Ontology (GO) annotations related to this gene include identical protein binding.

UniProtKB/Swiss-Prot Summary for ATG101 Gene

  • Autophagy factor required for autophagosome formation. Stabilizes ATG13, protecting it from proteasomal degradation.

Gene Wiki entry for ATG101 Gene

Additional gene information for ATG101 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATG101 Gene

Genomics for ATG101 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ATG101 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATG101 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATG101

Genomic Locations for ATG101 Gene

Latest Assembly
chr12:52,069,246-52,077,495
(GRCh38/hg38)
Size:
8,250 bases
Orientation:
Plus strand

Previous Assembly
chr12:52,463,762-52,471,279
(GRCh37/hg19 by Entrez Gene)
Size:
7,518 bases
Orientation:
Plus strand

chr12:52,463,030-52,471,278
(GRCh37/hg19 by Ensembl)
Size:
8,249 bases
Orientation:
Plus strand

Genomic View for ATG101 Gene

Genes around ATG101 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATG101 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATG101 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ATG101 Gene

Proteins for ATG101 Gene

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  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for ATG101 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BSB4-ATGA1_HUMAN
    Recommended name:
    Autophagy-related protein 101
    Protein Accession:
    Q9BSB4
    Secondary Accessions:
    • Q9HAE2
    • Q9HBN1

    Protein attributes for ATG101 Gene

    Size:
    218 amino acids
    Molecular mass:
    25003 Da
    Quaternary structure:
    • Interacts with ATG13 (PubMed:19287211, PubMed:19597335, PubMed:26299944). Associates with a complex composed of ATG13, ULK1 and RB1CC1; the association with this complex requires the presence of ATG13 (PubMed:19287211, PubMed:19597335).
    SequenceCaution:
    • Sequence=AAG17273.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ATG101 Gene

neXtProt entry for ATG101 Gene

Protein Expression for ATG101 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ATG101 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATG101 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for ATG101
  • Boster Bio Antibodies for ATG101

No data available for DME Specific Peptides for ATG101 Gene

Domains & Families for ATG101 Gene

Gene Families for ATG101 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for ATG101 Gene

InterPro:
Blocks:
  • Protein of unknown function DUF1649

Suggested Antigen Peptide Sequences for ATG101 Gene

GenScript: Design optimal peptide antigens:
  • Autophagy-related protein 101 (ATGA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BSB4

UniProtKB/Swiss-Prot:

ATGA1_HUMAN :
  • Belongs to the ATG101 family.
Family:
  • Belongs to the ATG101 family.
genes like me logo Genes that share domains with ATG101: view

Function for ATG101 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for ATG101 Gene

UniProtKB/Swiss-Prot Function:
Autophagy factor required for autophagosome formation. Stabilizes ATG13, protecting it from proteasomal degradation.

Phenotypes From GWAS Catalog for ATG101 Gene

Gene Ontology (GO) - Molecular Function for ATG101 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19597335
GO:0042802 identical protein binding IPI 20562859
GO:0044877 protein-containing complex binding IPI 19597335
genes like me logo Genes that share ontologies with ATG101: view
genes like me logo Genes that share phenotypes with ATG101: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG101

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ATG101 Gene

Localization for ATG101 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATG101 Gene

Cytoplasm. Preautophagosomal structure. Note=Under starvation conditions, it is localized to puncate structures primarily representing the isolation membrane; the isolation membrane sequesters a portion of the cytoplasm resulting in autophagosome formation. {ECO:0000269 PubMed:19597335}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATG101 gene
Compartment Confidence
cytosol 5
mitochondrion 3
lysosome 3
plasma membrane 2
extracellular 2
cytoskeleton 2
peroxisome 2
nucleus 2
endoplasmic reticulum 2
endosome 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for ATG101 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000407 phagophore assembly site IEA,IDA 19597335
GO:0005737 cytoplasm IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ATG101: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATG101 Gene

Pathways & Interactions for ATG101 Gene

genes like me logo Genes that share pathways with ATG101: view

Pathways by source for ATG101 Gene

2 Reactome pathways for ATG101 Gene
1 GeneTex pathway for ATG101 Gene

SIGNOR curated interactions for ATG101 Gene

Activates:

Gene Ontology (GO) - Biological Process for ATG101 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000045 autophagosome assembly IBA,IMP 19597335
GO:0006914 autophagy IEA --
GO:0016236 macroautophagy TAS --
GO:0016241 regulation of macroautophagy TAS --
genes like me logo Genes that share ontologies with ATG101: view

Drugs & Compounds for ATG101 Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for ATG101 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
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mRNA/cDNA for ATG101 Gene

2 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATG101

Alternative Splicing Database (ASD) splice patterns (SP) for ATG101 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b
SP1: -
SP2: - -
SP3: -
SP4:

Relevant External Links for ATG101 Gene

GeneLoc Exon Structure for
ATG101

Expression for ATG101 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATG101 Gene

mRNA expression in normal human tissues for ATG101 Gene
mRNA expression by GTEx for ATG101 GenemRNA expression by BioGPS for ATG101 Gene

Protein differential expression in normal tissues from HIPED for ATG101 Gene

This gene is overexpressed in Brain (17.8), Peripheral blood mononuclear cells (13.5), and Frontal cortex (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATG101 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATG101

Evidence on tissue expression from TISSUES for ATG101 Gene

  • Nervous system(4.6)
  • Lung(2.7)
  • Muscle(2.7)
  • Heart(2.6)
  • Stomach(2.6)
  • Liver(2.6)
  • Intestine(2.4)
  • Kidney(2.4)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with ATG101: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATG101 Gene

Orthologs for ATG101 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATG101 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia C12orf44 30
  • 100 (a)
 OneToOne
C12H12orf44 29
  • 99.69 (n)
Cow
(Bos Taurus)
 Mammalia ATG101 30
  • 99 (a)
 OneToOne
C5H12orf44 29
  • 93.12 (n)
Dog
(Canis familiaris)
 Mammalia C12ORF44 30
  • 99 (a)
 OneToOne
C27H12orf44 29
  • 92.05 (n)
Rat
(Rattus norvegicus)
 Mammalia RGD1359310 29
  • 91.44 (n)
Mouse
(Mus musculus)
 Mammalia 9430023L20Rik 29 30
  • 91.13 (n)
 OneToOne
Atg101 16
Lizard
(Anolis carolinensis)
 Reptilia C12orf44 30
  • 94 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia c12orf44 29
  • 78.13 (n)
African clawed frog
(Xenopus laevis)
 Amphibia Xl.11635 29
Zebrafish
(Danio rerio)
 Actinopterygii C10H12orf44 30
  • 87 (a)
 OneToOne
atg101 29
  • 80.12 (n)
Dr.12242 29
Rainbow Trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8586 29
Fruit Fly
(Drosophila melanogaster)
 Insecta CG7053 29 30
  • 61.77 (n)
 OneToOne
Worm
(Caenorhabditis elegans)
 Secernentea CELE_Y69A2AR.7 29
  • 51.28 (n)
epg-9 30
  • 31 (a)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.9278 30
  • 50 (a)
 OneToOne
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.11146 29
Species where no ortholog for ATG101 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ATG101 Gene

ENSEMBL:
Gene Tree for ATG101 (if available)
TreeFam:
Gene Tree for ATG101 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATG101: view image
Alliance of Genome Resources:
Additional Orthologs for ATG101

Paralogs for ATG101 Gene

(1) SIMAP similar genes for ATG101 Gene using alignment to 1 proteins:

  • ATGA1_HUMAN
genes like me logo Genes that share paralogs with ATG101: view

No data available for Paralogs for ATG101 Gene

Variants for ATG101 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATG101 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs1592317459 Likely Benign: not provided 52,073,674(+) G/A
NM_001098673.2(ATG101):c.24G>A (p.Leu8=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATG101 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ATG101 Gene

Variant ID Type Subtype PubMed ID
nsv470292 CNV loss 18288195
nsv558898 CNV loss 21841781
nsv832409 CNV loss 17160897

Variation tolerance for ATG101 Gene

Residual Variation Intolerance Score: 26.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.31; 6.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATG101 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATG101
Leiden Open Variation Database (LOVD)
ATG101

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATG101 Gene

Disorders for ATG101 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ATG101 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
huntington disease
  • hd
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for ATG101

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ATG101: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ATG101 Gene

Publications for ATG101 Gene

  1. A novel, human Atg13 binding protein, Atg101, interacts with ULK1 and is essential for macroautophagy. (PMID: 19287211) Mercer CA … Dennis PB (Autophagy 2009) 2 3 4
  2. Atg101, a novel mammalian autophagy protein interacting with Atg13. (PMID: 19597335) Hosokawa N … Mizushima N (Autophagy 2009) 2 3 4
  3. Structure of the Human Atg13-Atg101 HORMA Heterodimer: an Interaction Hub within the ULK1 Complex. (PMID: 26299944) Qi S … Hurley JH (Structure (London, England : 1993) 2015) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3

ExternalLinks

View latest publications for ATG101 gene in Mastermind

Products for ATG101 Gene

Sources for ATG101 Gene