HUS1 HUS1 checkpoint homolog (S. pombe) [Homo sapiens] - Gene

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Summary

Official Symbol: HUS1provided by HGNC
Official Full Name: HUS1 checkpoint homolog (S. pombe)provided by HGNC
Primary source: HGNC:5309
See related: Ensembl:ENSG00000136273; HPRD:04787; MIM:603760; Vega:OTTHUMG00000155645
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]

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Genomic context

Location :: 7p13-p12

Sequence :: Chromosome: 7; NC_000007.13 (48002885..48019222, complement)

See HUS1 in Epigenomics, MapViewer

Chromosome 7 - NC_000007.13 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

The HUS1 is loaded to damaged sites where it serves as a platform for the selective recruitment of checkpoint and repair proteins.
Title: 9-1-1: PCNA's specialized cousin.
The HUS1 protein interacts with casein kinase 2.
Title: Casein kinase 2-dependent phosphorylation of human Rad9 mediates the interaction between human Rad9-Hus1-Rad1 complex and TopBP1.
9-1-1 complex is a component of the mismatch repair involved in MNNG-induced damage response.
Title: Interaction between human mismatch repair recognition proteins and checkpoint sensor Rad9-Rad1-Hus1.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China.
Rad9-Rad1-Hus1 complex enhances in vitro activity of 8-oxoguanine DNA glycosylase.
Title: Repair activities of human 8-oxoguanine DNA glycosylase are stimulated by the interaction with human checkpoint sensor Rad9-Rad1-Hus1 complex.
The DNA binding domain (DBD) within the hLigI catalytic fragment interacts with both PCNA and the heterotrimeric cell-cycle checkpoint clamp, hRad9-hRad1-hHus1 (9-1-1).
Title: The DNA binding domain of human DNA ligase I interacts with both nicked DNA and the DNA sliding clamps, PCNA and hRad9-hRad1-hHus1.
The interdomain connecting loops (IDC loop) of hRad9, hHus1, and hRad1 are largely divergent and unique structural features of the 9-1-1 complex that are proposed to contribute to DNA damage recognition.
Title: Structure and functional implications of the human rad9-hus1-rad1 cell cycle checkpoint complex.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.
Loss of HUS1 sensitizes cells to etopside-induced apoptosis by regulating BH3-only proteins.
Title: Loss of Hus1 sensitizes cells to etoposide-induced apoptosis by regulating BH3-only proteins.
Observational study of gene-disease association. (HuGE Navigator)
Title: A Large-scale genetic association study of esophageal adenocarcinoma risk.

Submit: New GeneRIF Correction See all (25)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_004498.1	NP_003306.1	DNAJC7	BIND	PubMed	Tpr2 interacts with Hus1.
NP_004498.1	NP_004575.1	RAD9A	BIND	PubMed	Rad9 interacts with Hus1.
NP_004498.1	NP_004575.1	RAD9A	BIND	PubMed	Rad9 interacts with Hus1.
NP_004498.1	NP_002937.1	RPA2	BIND	PubMed	Hus1 interacts with RPA32.
O60921	Q99615	DNAJC7	HPRD	PubMed
O60921	Q13547	HDAC1	HPRD	PubMed
O60921	Q8NHY5	HUS1B	HPRD	PubMed
O60921	P12004	PCNA	HPRD	PubMed
O60921	O60671	RAD1	HPRD	PubMed
O60921	O75943	RAD17	HPRD	PubMed
O60921	Q99638	RAD9A	HPRD	PubMed
O60921	RAD9B	RAD9B	HPRD	PubMed
BioGRID:109596	BioGRID:107027	ATR	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109596	BioGRID:113117	DNAJC7	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109596	BioGRID:108528	FEN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109596	BioGRID:109315	HDAC1	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:109596	BioGRID:109488	HPRT1	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109596	BioGRID:111142	PCNA	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:109596	BioGRID:111656	PSMA2	BioGRID	PubMed	Affinity Capture-MS
BioGRID:109596	BioGRID:111771	RAD1	BioGRID	PubMed	Affinity Capture-Western; Two-hybrid
BioGRID:109596	BioGRID:111821	RAD17	BioGRID	PubMed	Affinity Capture-Western; Co-purification; Reconstituted Complex
BioGRID:109596	BioGRID:111820	RAD9A	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:109596	BioGRID:126872	RAD9B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109596	BioGRID:112037	RPA1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109596	BioGRID:112038	RPA2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:109596	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:109596	BioGRID:116168	YWHAQ	BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein serine/threonine kinase activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
DNA damage checkpoint	IMP Inferred from Mutant Phenotype more info
DNA repair	IEA Inferred from Electronic Annotation more info
DNA replication	TAS Traceable Author Statement more info
cell cycle checkpoint	TAS Traceable Author Statement more info
cellular response to ionizing radiation	IDA Inferred from Direct Assay more info
double-strand break repair via homologous recombination	IEA Inferred from Electronic Annotation more info
embryo development	IEA Inferred from Electronic Annotation more info
mitotic cell cycle G1/S transition checkpoint	IEA Inferred from Electronic Annotation more info
negative regulation of DNA replication	IEA Inferred from Electronic Annotation more info
protein phosphorylation	IEA Inferred from Electronic Annotation more info
response to DNA damage stimulus	TAS Traceable Author Statement more info	PubMed
response to UV	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
Golgi apparatus	IDA Inferred from Direct Assay more info	PubMed
cytoplasm	IEA Inferred from Electronic Annotation more info
nucleolus	IDA Inferred from Direct Assay more info	PubMed
nucleoplasm	TAS Traceable Author Statement more info
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

Preferred Names: checkpoint protein HUS1

Names: checkpoint protein HUS1; hus1+-like protein

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NCBI Reference Sequences (RefSeq)

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_004507.3 → NP_004498.1 checkpoint protein HUS1

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/TrEMBL

A4D2F2

UniProtKB/Swiss-Prot

O60921

Related

ENSP00000258774, OTTHUMP00000208364, ENST00000258774, OTTHUMT00000340952

Conserved Domains (1) summary

pfam04005
Location:1 – 280
Blast Score: 859

Hus1; Hus1-like protein

RNA

NR_037917.1 RNA Sequence

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

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000007.13 Reference GRCh37.p5 Primary Assembly

Range

48002885..48019222, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000139.1 Alternate HuRef

Range

47888421..47904763, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CRA_TCAGchr7v2

Genomic

AC_000068.1 Alternate CRA_TCAGchr7v2

Range

48042830..48059174, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC069282.6 (152272..168534)	None
genomic	AF503165.1	AAM18968.1
genomic	CH236958.1	EAL23807.1
genomic	CH471128.2	EAW61001.1
		EAW61002.1
mRNA	AF076844.1	AAC95526.1
mRNA	AF110393.1	AAD25350.1
mRNA	AJ227901.1	None
mRNA	AK290459.1	BAF83148.1
mRNA	AK294117.1	BAG57450.1
mRNA	BC007013.1	AAH07013.1
mRNA	BG286955.1	None
mRNA	BT019481.1	AAV38288.1
mRNA	BT019482.1	AAV38289.1
mRNA	CA438762.1	None
mRNA	CR536552.1	CAG38789.1
mRNA	Y16893.1	CAA76518.1