HUS1 HUS1 checkpoint clamp component [Homo sapiens (human)] - Gene

Summary

Official Symbol: HUS1provided by HGNC
Official Full Name: HUS1 checkpoint clamp componentprovided by HGNC
Primary source: HGNC:HGNC:5309
See related: Ensembl:ENSG00000136273 MIM:603760; AllianceGenome:HGNC:5309
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: hHUS1
Summary: The protein encoded by this gene is a component of an evolutionarily conserved, genotoxin-activated checkpoint complex that is involved in the cell cycle arrest in response to DNA damage. This protein forms a heterotrimeric complex with checkpoint proteins RAD9 and RAD1. In response to DNA damage, the trimeric complex interacts with another protein complex consisting of checkpoint protein RAD17 and four small subunits of the replication factor C (RFC), which loads the combined complex onto the chromatin. The DNA damage induced chromatin binding has been shown to depend on the activation of the checkpoint kinase ATM, and is thought to be an early checkpoint signaling event. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]
Expression: Ubiquitous expression in bone marrow (RPKM 3.6), thyroid (RPKM 3.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p12.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (47963288..47979615, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (48125574..48141862, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (48002885..48019212, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

MiR-340-3p-HUS1 axis suppresses proliferation and migration in lung adenocarcinoma cells.
Title: MiR-340-3p-HUS1 axis suppresses proliferation and migration in lung adenocarcinoma cells.
In vivo miRNA knockout screening identifies miR-190b as a novel tumor suppressor.
Title: In vivo miRNA knockout screening identifies miR-190b as a novel tumor suppressor.
Low HUS1 expression is associated with hepatocellular carcinoma.
Title: HUS1 checkpoint clamp component (HUS1) is a potential tumor suppressor in primary hepatocellular carcinoma.
These results suggest that p21(Waf1/CIP1) and Hus1 play crucial roles in the generation and transmission of bystander damage signals after low-dose alpha-particle irradiation.
Title: The Roles of p21(Waf1/CIP1) and Hus1 in Generation and Transmission of Damage Signals Stimulated by Low-Dose Alpha-Particle Irradiation.
adenine glycosylase activity, mismatch recognition properties and interaction with protein partners of MUTYH and 5 MAP variants were examined; P502L and R520Q had reduced affinity for PCNA; only Q324H was found to have reduced affinity for Hus1
Title: Distinct functional consequences of MUTYH variants associated with colorectal cancer: Damaged DNA affinity, glycosylase activity and interaction with PCNA and Hus1.
Intramolecular binding of the rad9 C-terminus in the checkpoint clamp Rad9-Hus1-Rad1 is closely linked with its DNA binding.
Title: Intramolecular Binding of the Rad9 C Terminus in the Checkpoint Clamp Rad9-Hus1-Rad1 Is Closely Linked with Its DNA Binding.
these pockets were not required for 9-1-1 chromatin localization or ATR-mediated CHK1 activation but were necessary for interactions between HUS1 and its binding partner MYH
Title: Genome Protection by the 9-1-1 Complex Subunit HUS1 Requires Clamp Formation, DNA Contacts, and ATR Signaling-independent Effector Functions.
Expression of cell cycle regulatory factors hus1, gadd45a, rb1, cdkn2a and mre11a correlates with expression of clock gene per2 in human colorectal carcinoma tissue.
Title: Expression of cell cycle regulatory factors hus1, gadd45a, rb1, cdkn2a and mre11a correlates with expression of clock gene per2 in human colorectal carcinoma tissue.
HUS1 polymorphisms act as risk breast cancer modifiers in the group of non-carriers of BRCA1/2 mutations.
Title: Low penetrance alleles as risk modifiers in familial and sporadic breast cancer.
Data show models for the ternary PCNA/FEN1/DNA and Rad9-Rad1-Hus1 (9-1-1 complex)/FEN1/DNA assemblies.
Title: Repair complexes of FEN1 endonuclease, DNA, and Rad9-Hus1-Rad1 are distinguished from their PCNA counterparts by functionally important stability.

Submit: New GeneRIF Correction See all GeneRIFs (35)

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

GDB:434012 (e-PCR)
- UniSTS:157204

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

G41778 (e-PCR)
- UniSTS:93116

D15S1390 (e-PCR)
- UniSTS:474340

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA damage response	TAS Traceable Author Statement more info	PubMed
involved_in DNA repair	TAS Traceable Author Statement more info	PubMed
involved_in cellular response to ionizing radiation	IDA Inferred from Direct Assay more info	PubMed
involved_in double-strand break repair via homologous recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in embryo development ending in birth or egg hatching	IEA Inferred from Electronic Annotation more info
involved_in meiotic DNA integrity checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic DNA replication checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic intra-S DNA damage checkpoint signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in nucleotide-excision repair	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to UV	IEA Inferred from Electronic Annotation more info
involved_in telomere maintenance	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of checkpoint clamp complex	IBA Inferred from Biological aspect of Ancestor more info
part_of checkpoint clamp complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in nucleolus	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in site of double-strand break	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: checkpoint protein HUS1

Names: HUS1 checkpoint homolog; hus1+-like 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)

NM_001363683.2 → NP_001350612.1 checkpoint protein HUS1 isoform 2

Status: REVIEWED

Source sequence(s)

AC069282

Consensus CDS

CCDS87501.1

Related

ENSP00000416588.1, ENST00000432325.6

Conserved Domains (1) summary

pfam04005
Location:1 → 259

Hus1; Hus1-like protein
NM_004507.4 → NP_004498.1 checkpoint protein HUS1 isoform 1

See identical proteins and their annotated locations for NP_004498.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes a protein of 280 aa.

Source sequence(s)

AC069282, BC007013, BG286955, CA438762

Consensus CDS

CCDS34635.1

UniProtKB/Swiss-Prot

B4DFI9, O60921

UniProtKB/TrEMBL

A4D2F2

Related

ENSP00000258774.5, ENST00000258774.10

Conserved Domains (1) summary

pfam04005
Location:1 → 280

Hus1; Hus1-like protein

RNA

NR_037917.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) is represented as non-coding because it lacks a segment in the 3' UTR which subjects the transcript to nonsense-mediated mRNA decay (NMD), compared to variant 1.

Source sequence(s)

AC069282, AK294117, BG286955, CA438762