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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
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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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