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ASTE1 asteroid homolog 1 [ Homo sapiens (human) ]

Gene ID: 28990, updated on 2-Nov-2024

Summary

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
Enables 3' overhang single-stranded DNA endodeoxyribonuclease activity. Involved in double-strand break repair via homologous recombination and double-strand break repair via nonhomologous end joining. Implicated in Lynch syndrome and mismatch repair cancer syndrome. [provided by Alliance of Genome Resources, Nov 2024]
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

See ASTE1 in Genome Data Viewer
Location:
3q22.1
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (131013875..131026825, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (133757625..133770598, complement)
RS_2024_09 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

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?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
single-strand DNA endonuclease ASTE1
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_001288950.2NP_001275879.1  single-strand DNA endonuclease ASTE1 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:197
    PIN_SF; PIN (PilT N terminus) domain: Superfamily
  2. NM_014065.4NP_054784.2  single-strand DNA endonuclease ASTE1 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:116168
    XPG_I_2; XPG domain containing
    cl14812
    Location:197
    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_2024_08

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_024453486.2XP_024309254.1  single-strand DNA endonuclease ASTE1 isoform X1

    Conserved Domains (2) summary
    pfam12813
    Location:116168
    XPG_I_2; XPG domain containing
    cl14812
    Location:197
    PIN_SF; PIN (PilT N terminus) domain: Superfamily
  2. XM_017006266.3XP_016861755.1  single-strand DNA endonuclease ASTE1 isoform X1

    UniProtKB/Swiss-Prot
    Q2TB18
    Related
    ENSP00000421019.1, ENST00000507978.5
    Conserved Domains (2) summary
    pfam12813
    Location:116168
    XPG_I_2; XPG domain containing
    cl14812
    Location:197
    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_054346364.1XP_054202339.1  single-strand DNA endonuclease ASTE1 isoform X1

  2. XM_054346363.1XP_054202338.1  single-strand DNA endonuclease ASTE1 isoform X1