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    ASTE1 asteroid homolog 1 [ Homo sapiens (human) ]

    Gene ID: 28990, updated on 5-Mar-2024

    Summary

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    Official Symbol
    ASTE1provided by HGNC
    Official Full Name
    asteroid homolog 1provided by HGNC
    Primary source
    HGNC:HGNC:25021
    See related
    Ensembl:ENSG00000034533 MIM:620693; AllianceGenome:HGNC:25021
    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
    HT001
    Summary
    Predicted to enable nuclease activity. Predicted to be involved in nucleic acid phosphodiester bond hydrolysis. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 3.6), thyroid (RPKM 3.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ASTE1 in Genome Data Viewer
    Location:
    3q22.1
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (131013875..131026825, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (133757625..133770598, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (130732719..130745669, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene ATPase secretory pathway Ca2+ transporting 1 Neighboring gene makorin ring finger protein 1 pseudogene Neighboring gene CSRP2 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14736 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20527 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20529 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:130761319-130762129 Neighboring gene uncharacterized LOC124909434 Neighboring gene NIMA related kinase 11 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:130796655-130797231 Neighboring gene RNA, U6 small nuclear 726, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. ASTE1 frameshift mutation triggers the immune response in Epstein-Barr virus-associated gastric cancer. Huang B, et al. Signal Transduct Target Ther, 2022 Jan 5. PMID 34983924, Free PMC Article
    2. ASTE1 promotes shieldin-complex-mediated DNA repair by attenuating end resection. Zhao F, et al. Nat Cell Biol, 2021 Aug. PMID 34354233
    3. Overlapping ATP2C1 and ASTE1 genes in human genome: implications for SPCA1 expression? Micaroni M, et al. Int J Mol Sci, 2013 Jan 4. PMID 23344038, Free PMC Article
    4. Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations. Tougeron D, et al. Mod Pathol, 2009 Sep. PMID 19503063
    5. The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition. Lu L, et al. J Biol Chem, 2013 Dec 13. PMID 24163370, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ASTE1 frameshift mutation triggers the immune response in Epstein-Barr virus-associated gastric cancer.
      Title: ASTE1 frameshift mutation triggers the immune response in Epstein-Barr virus-associated gastric cancer.
    2. ASTE1 promotes shieldin-complex-mediated DNA repair by attenuating end resection.
      Title: ASTE1 promotes shieldin-complex-mediated DNA repair by attenuating end resection.
    3. Data suggest that calcium ATPase ATP2C1 gene expression is influenced by an overlapping protein asteroid homolog 1 ASTE1 gene.
      Title: Overlapping ATP2C1 and ASTE1 genes in human genome: implications for SPCA1 expression?
    4. The four most frequently mutated genes in colorectal cancers with microsatellite instability were ACVR2 (92%), TAF1B (84%), ASTE1/HT001 (80%) and TGFBR2 (77%).
      Title: Tumor-infiltrating lymphocytes in colorectal cancers with microsatellite instability are correlated with the number and spectrum of frameshift mutations.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC129980

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables nuclease activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    protein asteroid homolog 1

    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_001288950.2 → NP_001275879.1  protein asteroid homolog 1 isoform 1

      See identical proteins and their annotated locations for NP_001275879.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK294156, BC069265
      Consensus CDS
      CCDS75007.1
      UniProtKB/TrEMBL
      D6RG30
      Related
      ENSP00000426421.1, ENST00000514044.5
      Conserved Domains (1) summary
      cl14812
      Location:1 → 97
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    2. NM_014065.4 → NP_054784.2  protein asteroid homolog 1 isoform 2

      See identical proteins and their annotated locations for NP_054784.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AK027806, AK294156, BC069265
      Consensus CDS
      CCDS3068.1
      UniProtKB/Swiss-Prot
      B4DFL9, Q2TB18, Q3MIB6, Q8N6G4, Q96JY1, Q9UHX6
      Related
      ENSP00000264992.3, ENST00000264992.8
      Conserved Domains (2) summary
      pfam12813
      Location:116 → 168
      XPG_I_2; XPG domain containing
      cl14812
      Location:1 → 97
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    RNA

    1. NR_110229.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' region and lacks an alternate internal exon and contains an alternate internal exon in the 3' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK294156, BC069265

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      131013875..131026825 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024453486.2 → XP_024309254.1  protein asteroid homolog 1 isoform X1

      Conserved Domains (2) summary
      pfam12813
      Location:116 → 168
      XPG_I_2; XPG domain containing
      cl14812
      Location:1 → 97
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    2. XM_017006266.3 → XP_016861755.1  protein asteroid homolog 1 isoform X1

      UniProtKB/Swiss-Prot
      Q2TB18
      Related
      ENSP00000421019.1, ENST00000507978.5
      Conserved Domains (2) summary
      pfam12813
      Location:116 → 168
      XPG_I_2; XPG domain containing
      cl14812
      Location:1 → 97
      PIN_SF; PIN (PilT N terminus) domain: Superfamily

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      133757625..133770598 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346364.1 → XP_054202339.1  protein asteroid homolog 1 isoform X1

    2. XM_054346363.1 → XP_054202338.1  protein asteroid homolog 1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2TB18.1 GenPept UniProtKB/Swiss-Prot:Q2TB18

    Gene LinkOut

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

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