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    ATG101 autophagy related 101 [ Homo sapiens (human) ]

    Gene ID: 60673, updated on 10-Dec-2024

    Summary

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    Official Symbol
    ATG101provided by HGNC
    Official Full Name
    autophagy related 101provided by HGNC
    Primary source
    HGNC:HGNC:25679
    See related
    Ensembl:ENSG00000123395 MIM:615089; AllianceGenome:HGNC:25679
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C12orf44
    Summary
    Enables identical protein binding activity. Involved in autophagosome assembly; negative regulation of cell population proliferation; and regulation of protein lipidation. Located in phagophore assembly site. Part of Atg1/ULK1 kinase complex. Biomarker of cholangiocarcinoma; colon cancer; and hepatocellular carcinoma. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in testis (RPKM 16.2), thyroid (RPKM 14.2) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ATG101 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (52065300..52077495)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (52028879..52041075)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (52463762..52471279)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene nuclear receptor subfamily 4 group A member 1 Neighboring gene uncharacterized LOC107984510 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4482 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52445362-52445919 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6389 Neighboring gene H3K27ac hESC enhancer GRCh37_chr12:52463395-52464110 Neighboring gene NR4A1 antisense RNA Neighboring gene uncharacterized LOC112268096 Neighboring gene small integral membrane protein 41 Neighboring gene olfactory receptor family 7 subfamily E member 47 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6395 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52524285-52524822 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52537787-52538604 Neighboring gene Sharpr-MPRA regulatory region 3292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:52543503-52544317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4483 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_28931 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:52577352-52578177 Neighboring gene keratin 80

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. ATG101-related signature predicts prognosis and therapeutic option in hepatocellular carcinoma. Wang B, et al. Sci Rep, 2022 Oct 27. PMID 36302799, Free PMC Article
    2. Metamorphosis by ATG13 and ATG101 in human autophagy initiation. Patel A, et al. Autophagy, 2024 Apr. PMID 37394799, Free PMC Article
    3. The role of the HORMA domain proteins ATG13 and ATG101 in initiating autophagosome biogenesis. Nguyen A, et al. FEBS Lett, 2024 Jan. PMID 37567770
    4. A novel, human Atg13 binding protein, Atg101, interacts with ULK1 and is essential for macroautophagy. Mercer CA, et al. Autophagy, 2009 Jul. PMID 19287211
    5. Structure of the Human Atg13-Atg101 HORMA Heterodimer: an Interaction Hub within the ULK1 Complex. Qi S, et al. Structure, 2015 Oct 6. PMID 26299944, Free PMC Article

    See all (44) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Metamorphosis by ATG13 and ATG101 in human autophagy initiation.
      Title: Metamorphosis by ATG13 and ATG101 in human autophagy initiation.
    2. The role of the HORMA domain proteins ATG13 and ATG101 in initiating autophagosome biogenesis.
      Title: The role of the HORMA domain proteins ATG13 and ATG101 in initiating autophagosome biogenesis.
    3. ATG101-related signature predicts prognosis and therapeutic option in hepatocellular carcinoma.
      Title: ATG101-related signature predicts prognosis and therapeutic option in hepatocellular carcinoma.
    4. ATG101 Degradation by HUWE1-Mediated Ubiquitination Impairs Autophagy and Reduces Survival in Cancer Cells.
      Title: ATG101 Degradation by HUWE1-Mediated Ubiquitination Impairs Autophagy and Reduces Survival in Cancer Cells.
    5. The C-terminal deletion of ATG101 shows a significant defect in the interaction with PtdIns3K components and subsequently impairs autophagosome formation. This result clearly presents an additional role of ATG101 for bridging the ULK1 and PtdIns3K complexes in the mammalian autophagy process.
      Title: The C-terminal region of ATG101 bridges ULK1 and PtdIns3K complex in autophagy initiation.
    6. Structure of the human Atg13-Atg101 HORMA heterodimer in the ULK1 complex that controls autophagy has been described.
      Title: Structure of the Human Atg13-Atg101 HORMA Heterodimer: an Interaction Hub within the ULK1 Complex.
    7. Data indicate mitogen lacritin stimulates FOXO3-ATG101 and FOXO1-ATG7 autophagic coupling and restores metabolic homeostasis.
      Title: Lacritin rescues stressed epithelia via rapid forkhead box O3 (FOXO3)-associated autophagy that restores metabolism.
    8. These data suggest that Atg101 is a novel Atg protein that functions together with ULK, Atg13 and FIP200.
      Title: Atg101, a novel mammalian autophagy protein interacting with Atg13.
    9. The identification of the novel protein, Atg101, and the validation of Atg13 and Atg101 as ULK1-interacting proteins, suggests an Atg1 complex is involved in the induction of macroautophagy in mammalian cells.
      Title: A novel, human Atg13 binding protein, Atg101, interacts with ULK1 and is essential for macroautophagy.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ11773

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein-containing complex binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in autophagosome assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in autophagosome assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in autophagosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of autophagy ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in regulation of protein lipidation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Atg1/ULK1 kinase complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Atg1/ULK1 kinase complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    is_active_in phagophore assembly site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in phagophore assembly site IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    autophagy-related protein 101
    Names
    Atg13-interacting protein

    NCBI Reference Sequences (RefSeq)

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    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_001098673.2 → NP_001092143.1  autophagy-related protein 101

      See identical proteins and their annotated locations for NP_001092143.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC005151, BP309508, CB137838
      Consensus CDS
      CCDS8820.1
      UniProtKB/Swiss-Prot
      Q9BSB4, Q9HAE2, Q9HBN1
      UniProtKB/TrEMBL
      F8VQD9
      Related
      ENSP00000450088.1, ENST00000553049.5
      Conserved Domains (1) summary
      pfam07855
      Location:9 → 172
      ATG101; Autophagy-related protein 101

    2. NM_021934.5 → NP_068753.2  autophagy-related protein 101

      See identical proteins and their annotated locations for NP_068753.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AC025259
      Consensus CDS
      CCDS8820.1
      UniProtKB/Swiss-Prot
      Q9BSB4, Q9HAE2, Q9HBN1
      UniProtKB/TrEMBL
      F8VQD9
      Related
      ENSP00000338990.4, ENST00000336854.9
      Conserved Domains (1) summary
      pfam07855
      Location:9 → 172
      ATG101; Autophagy-related protein 101

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      52065300..52077495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024449120.2 → XP_024304888.1  autophagy-related protein 101 isoform X1

      UniProtKB/Swiss-Prot
      Q9BSB4, Q9HAE2, Q9HBN1
      UniProtKB/TrEMBL
      F8VQD9
      Conserved Domains (1) summary
      pfam07855
      Location:9 → 172
      ATG101; Autophagy-related protein 101

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      52028879..52041075
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372827.1 → XP_054228802.1  autophagy-related protein 101 isoform X1

      UniProtKB/Swiss-Prot
      Q9BSB4, Q9HAE2, Q9HBN1
      UniProtKB/TrEMBL
      F8VQD9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BSB4.1 GenPept UniProtKB/Swiss-Prot:Q9BSB4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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