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ATG101 autophagy related 101 [ Homo sapiens (human) ]

Gene ID: 60673, updated on 2-Nov-2024

Summary

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, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 16.2), thyroid (RPKM 14.2) and 25 other tissues See more
Orthologs
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Genomic context

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

Expression

  • Project title: HPA RNA-seq normal tissues 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 Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001098673.2NP_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:9172
    ATG101; Autophagy-related protein 101
  2. NM_021934.5NP_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:9172
    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_024449120.2XP_024304888.1  autophagy-related protein 101 isoform X1

    UniProtKB/Swiss-Prot
    Q9BSB4, Q9HAE2, Q9HBN1
    UniProtKB/TrEMBL
    F8VQD9
    Conserved Domains (1) summary
    pfam07855
    Location:9172
    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_054372827.1XP_054228802.1  autophagy-related protein 101 isoform X1

    UniProtKB/Swiss-Prot
    Q9BSB4, Q9HAE2, Q9HBN1