HUS1 - HUS1 checkpoint clamp component Gene

Homo sapiens

Also known as hHUS1

Gene ID: 3364 | Gene type: protein coding

About HUS1

Cytogenetic location: 7p12.3 Genomic coordinates (GRCh38): 7:47,963,288-47,979,615 (from NCBI)

This gene has 8 transcripts (splice variants), 199 orthologues and 1 paralogue. Ubiquitous expression in bone marrow (RPKM 3.6), thyroid (RPKM 3.6) and 25 other tissues.

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]

HUS1 Products(2)

mRNA	Protein	Name
NM_001363683.2	NP_001350612.1	checkpoint protein HUS1 isoform 2
NM_004507.4	NP_004498.1	checkpoint protein HUS1 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10359610	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage checkpoint signaling	IMP IMP: Inferred from mutant phenotype	21659603	GOA
involved in cellular response to ionizing radiation	IDA IDA: Inferred from direct assay	21659603	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of checkpoint clamp complex	IDA IDA: Inferred from direct assay	31776186	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10846170	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

HUS1 Protein Structure

Hus1

0
100
200
280 a.a.

Protein Preferred Names

Protein Names

checkpoint protein HUS1

HUS1 checkpoint homolog

Related Diseases

Diseases

Alias

Fanconi Anemia, Complementation Group G

Fanconi Anemia Complementation Group G

FANCG

Noonan Syndrome 4

NS4	Noonan Syndrome, Type 4

Noonan Syndrome 3

NS3	Noonan Syndrome, Type 3

Xeroderma Pigmentosum, Variant Type

Xeroderma Pigmentosum	XPV
Xeroderma Pigmentosum Variant Type	Xeroderma Pigmentosum With Normal Dna Repair Rates
Photosensitivity With Defective Dna Synthesis	Xp
De Sanctis-Cacchione Syndrome	Desanctis-Cacchione Syndrome
Xeroderma Pigmentosa	Xerodermic Idiocy
Xeroderma Pigmentosum Variant	Xp - [Xeroderma Pigmentosum]
Atrophoderma Pigmentosum

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Fanconi Anemia, Complementation Group A

Fanconi Anemia	Fanconi Pancytopenia
Fanconi Anemia Complementation Group A	FANCA
Fa	Fanconi Panmyelopathy
Fanconi'S Anemia	Fanconi Anaemia
Fanconi'S Anaemia	Fanconi Hypoplastic Anemia
Estren-Dameshek Variant Of Fanconi Anemia	Estren-Dameshek Variant Of Fanconi Pancytopenia
Fanconi Anemia Estren-Dameshek Variant	Fanconis Anemia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06492	HUS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	HUS1	MGD	MGI:1277962
Bos taurus	HUS1	VGNC	VGNC:30008
Canis familiaris	HUS1	VGNC	VGNC:41840
Macaca mulatta	HUS1	VGNC	VGNC:73546
Rattus norvegicus	HUS1	RGD	RGD:1591976

Name
Email *

	Sorry, but the email address you supplied was invalid.