ASTE1 asteroid homolog 1 [Homo sapiens (human)] - Gene

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: mouse all
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Genomic context

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_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
ASTE1 promotes shieldin-complex-mediated DNA repair by attenuating end resection.
Title: ASTE1 promotes shieldin-complex-mediated DNA repair by attenuating end resection.
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?
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH11935 (e-PCR)
- UniSTS:51335

RH78727 (e-PCR)
- UniSTS:37807

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3' overhang single-stranded DNA endodeoxyribonuclease activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA endodeoxyribonuclease activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in double-strand break repair via homologous recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via nonhomologous end joining	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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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)

NM_001288950.2 → NP_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:1 → 97

PIN_SF; PIN (PilT N terminus) domain: Superfamily
NM_014065.4 → NP_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:116 → 168

XPG_I_2; XPG domain containing

cl14812
Location:1 → 97

PIN_SF; PIN (PilT N terminus) domain: Superfamily

RNA

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

NC_000003.12 Reference GRCh38.p14 Primary Assembly

Range

131013875..131026825 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_024453486.2 → XP_024309254.1 single-strand DNA endonuclease ASTE1 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
XM_017006266.3 → XP_016861755.1 single-strand DNA endonuclease ASTE1 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