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

Gene ID: 3364, updated on 21-Dec-2019

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
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

Genomic context

See HUS1 in Genome Data Viewer
Location:
7p12.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (47962980..47979619, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (48002885..48019222, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 525 Neighboring gene polycystin 1 like 1, transient receptor potential channel interacting Neighboring gene chromosome 7 open reading frame 69 Neighboring gene uncharacterized LOC105375270 Neighboring gene Sad1 and UNC84 domain containing 3 Neighboring gene chromosome 7 open reading frame 57

Genomic regions, transcripts, and products

Expression

  • Project title: 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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA damage checkpoint IMP
Inferred from Mutant Phenotype
more info
PubMed 
DNA repair TAS
Traceable Author Statement
more info
PubMed 
DNA replication TAS
Traceable Author Statement
more info
 
cellular response to DNA damage stimulus TAS
Traceable Author Statement
more info
PubMed 
cellular response to ionizing radiation IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via homologous recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
embryo development ending in birth or egg hatching IEA
Inferred from Electronic Annotation
more info
 
intra-S DNA damage checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
meiotic DNA integrity checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
mitotic DNA replication checkpoint IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of DNA replication IEA
Inferred from Electronic Annotation
more info
 
nucleotide-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of signal transduction by p53 class mediator TAS
Traceable Author Statement
more info
 
response to UV IEA
Inferred from Electronic Annotation
more info
 
telomere maintenance IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
checkpoint clamp complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
nucleolus IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
site of double-strand break IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
checkpoint protein HUS1
Names
HUS1 checkpoint homolog
hus1+-like protein

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)

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

    Status: REVIEWED

    Source sequence(s)
    AC069282
    Consensus CDS
    CCDS87501.1
    Related
    ENSP00000416588.1, ENST00000432325.5
    Conserved Domains (1) summary
    pfam04005
    Location:1259
    Hus1; Hus1-like protein
  2. NM_004507.4NP_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
    O60921
    UniProtKB/TrEMBL
    A4D2F2
    Related
    ENSP00000258774.5, ENST00000258774.10
    Conserved Domains (1) summary
    pfam04005
    Location:1280
    Hus1; Hus1-like protein

RNA

  1. 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    47962980..47979619 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_001744682.2 RNA Sequence

  2. XR_001744681.2 RNA Sequence

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