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Aliases for HUS1 Gene

Aliases for HUS1 Gene

  • HUS1 Checkpoint Clamp Component 2 3 5
  • Hus1+-Like Protein 2 3
  • HHUS1 3 4
  • HUS1 (S. Pombe) Checkpoint Homolog 2
  • HUS1 Checkpoint Homolog (S. Pombe) 2
  • HUS1 Checkpoint Homolog 3
  • Checkpoint Protein HUS1 3

External Ids for HUS1 Gene

Previous GeneCards Identifiers for HUS1 Gene

  • GC07M047650
  • GC07M047744
  • GC07M047777
  • GC07M047969
  • GC07M047735

Summaries for HUS1 Gene

Entrez Gene Summary for HUS1 Gene

  • 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]

GeneCards Summary for HUS1 Gene

HUS1 (HUS1 Checkpoint Clamp Component) is a Protein Coding gene. Among its related pathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. An important paralog of this gene is HUS1B.

UniProtKB/Swiss-Prot for HUS1 Gene

  • Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths; and DNA ligase I (LIG1) on long-patch base excision repair substrates. The 9-1-1 complex is necessary for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase.

Gene Wiki entry for HUS1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HUS1 Gene

Genomics for HUS1 Gene

Regulatory Elements for HUS1 Gene

Enhancers for HUS1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G048081 2 FANTOM5 Ensembl ENCODE dbSUPER 15 -111.4 -111427 18.7 FOXA2 ARNT ARID4B SIN3A DMAP1 FEZF1 YY1 ZNF207 FOS SP3 UPP1 HUS1 ENSG00000225507 PKD1L1 SUN3 ABCA13 LOC105375271
GH07G047939 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.9 +37.7 37725 4.2 HNRNPUL1 HDGF PKNOX1 CREB3L1 ARNT AGO1 ARID4B SIN3A DMAP1 ZNF2 PKD1L1 HUS1 C7orf57 UPP1 ENSG00000225507 GC07M047823
GH07G047953 0.7 ENCODE 24 +25.1 25056 1.5 NR2F1 JUNB YBX1 ATF2 MCM7 POLR2A ATF3 ZNF580 CREB1 ZBTB33 HUS1 UPP1 ABCA13 ENSG00000225507 GC07M047823
GH07G047978 1.2 ENCODE 13.8 +0.4 368 2.0 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC HUS1 UPP1 PKD1L1
GH07G048109 1.4 Ensembl ENCODE dbSUPER 11.5 -130.3 -130333 1.6 ELF3 FOXA2 TBL1XR1 WRNIP1 SIN3A ARID4B ZNF48 RAD21 RARA YY1 UPP1 C7orf57 PKD1L1 HUS1 ABCA13 LOC105375271
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HUS1 on UCSC Golden Path with GeneCards custom track

Promoters for HUS1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000212301 125 1400 MLX CREB3L1 AGO1 ZFP64 FEZF1 DMAP1 YY1 ZNF143 ZNF263 SP3

Genomic Location for HUS1 Gene

Chromosome:
7
Start:
47,695,730 bp from pter
End:
47,979,625 bp from pter
Size:
283,896 bases
Orientation:
Minus strand

Genomic View for HUS1 Gene

Genes around HUS1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HUS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HUS1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HUS1 Gene

Proteins for HUS1 Gene

  • Protein details for HUS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60921-HUS1_HUMAN
    Recommended name:
    Checkpoint protein HUS1
    Protein Accession:
    O60921
    Secondary Accessions:
    • B4DFI9

    Protein attributes for HUS1 Gene

    Size:
    280 amino acids
    Molecular mass:
    31691 Da
    Quaternary structure:
    • Component of the toroidal 9-1-1 (RAD9-RAD1-HUS1) complex, composed of RAD9A, RAD1 and HUS1. The 9-1-1 complex associates with LIG1, POLB, FEN1, RAD17, HDAC1, RPA1 and RPA2. The 9-1-1 complex associates with the RAD17-RFC complex. HUS1 interacts with POLB, HDAC1, FEN1, PCNA, RAD1, RAD9A and RAD9B. HUS1 does not interact with RAD17. Interacts with DNAJC7.

    Three dimensional structures from OCA and Proteopedia for HUS1 Gene

    Alternative splice isoforms for HUS1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HUS1 Gene

Post-translational modifications for HUS1 Gene

  • Ubiquitination at isoforms=2136
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for HUS1 Gene

Domains & Families for HUS1 Gene

Gene Families for HUS1 Gene

Protein Domains for HUS1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

O60921

UniProtKB/Swiss-Prot:

HUS1_HUMAN :
  • Belongs to the HUS1 family.
Family:
  • Belongs to the HUS1 family.
genes like me logo Genes that share domains with HUS1: view

Function for HUS1 Gene

Molecular function for HUS1 Gene

GENATLAS Biochemistry:
cell cycle G2 checkpoint control gene,homologous to S pombe Hos1
UniProtKB/Swiss-Prot Function:
Component of the 9-1-1 cell-cycle checkpoint response complex that plays a major role in DNA repair. The 9-1-1 complex is recruited to DNA lesion upon damage by the RAD17-replication factor C (RFC) clamp loader complex. Acts then as a sliding clamp platform on DNA for several proteins involved in long-patch base excision repair (LP-BER). The 9-1-1 complex stimulates DNA polymerase beta (POLB) activity by increasing its affinity for the 3-OH end of the primer-template and stabilizes POLB to those sites where LP-BER proceeds; endonuclease FEN1 cleavage activity on substrates with double, nick, or gap flaps of distinct sequences and lengths; and DNA ligase I (LIG1) on long-patch base excision repair substrates. The 9-1-1 complex is necessary for the recruitment of RHNO1 to sites of double-stranded breaks (DSB) occurring during the S phase.

Gene Ontology (GO) - Molecular Function for HUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10359610
genes like me logo Genes that share ontologies with HUS1: view
genes like me logo Genes that share phenotypes with HUS1: view

Animal Models for HUS1 Gene

MGI Knock Outs for HUS1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HUS1

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for HUS1 Gene

Localization for HUS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HUS1 Gene

Nucleus. Cytoplasm, cytosol. Note=In discrete nuclear foci upon DNA damage. According to PubMed:11077446, localized also in the cytoplasm. DNA damage induces its nuclear translocation. Shuttles between the nucleus and the cytoplasm. {ECO:0000269 PubMed:11077446}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HUS1 gene
Compartment Confidence
nucleus 5
cytosol 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for HUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 10846170
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with HUS1: view

Pathways & Interactions for HUS1 Gene

genes like me logo Genes that share pathways with HUS1: view

Gene Ontology (GO) - Biological Process for HUS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IMP 21659603
GO:0000724 double-strand break repair via homologous recombination IBA --
GO:0001932 regulation of protein phosphorylation IEA --
GO:0006260 DNA replication TAS --
GO:0006281 DNA repair TAS 9872989
genes like me logo Genes that share ontologies with HUS1: view

No data available for SIGNOR curated interactions for HUS1 Gene

Drugs & Compounds for HUS1 Gene

(1) Drugs for HUS1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with HUS1: view

Transcripts for HUS1 Gene

Unigene Clusters for HUS1 Gene

HUS1 checkpoint homolog (S. pombe):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for HUS1

Alternative Splicing Database (ASD) splice patterns (SP) for HUS1 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11
SP1: - - - - -
SP2: -
SP3: -
SP4: -
SP5:

Relevant External Links for HUS1 Gene

GeneLoc Exon Structure for
HUS1
ECgene alternative splicing isoforms for
HUS1

Expression for HUS1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HUS1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for HUS1 Gene

This gene is overexpressed in Bone (17.0), Blymphocyte (12.3), and CD8 Tcells (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for HUS1 Gene



Protein tissue co-expression partners for HUS1 Gene

NURSA nuclear receptor signaling pathways regulating expression of HUS1 Gene:

HUS1

SOURCE GeneReport for Unigene cluster for HUS1 Gene:

Hs.152983

mRNA Expression by UniProt/SwissProt for HUS1 Gene:

O60921-HUS1_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for HUS1 Gene

  • Blood(4.1)
genes like me logo Genes that share expression patterns with HUS1: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HUS1 Gene

Orthologs for HUS1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for HUS1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HUS1 34 35
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia HUS1 35
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Hus1 34
  • 83.69 (n)
mouse
(Mus musculus)
Mammalia Hus1 34 16 35
  • 83.57 (n)
dog
(Canis familiaris)
Mammalia HUS1 34 35
  • 81.19 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 80 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 77 (a)
ManyToMany
-- 35
  • 59 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 75 (a)
OneToMany
HUS1 34
  • 74.64 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 74 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia hus1 34
  • 69.52 (n)
Str.8524 34
African clawed frog
(Xenopus laevis)
Amphibia LOC398571 34
zebrafish
(Danio rerio)
Actinopterygii zgc:162895 34
  • 65.35 (n)
HUS1 35
  • 63 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Hus1-like 34 35
  • 44.16 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011361 34
  • 44.12 (n)
worm
(Caenorhabditis elegans)
Secernentea hus-1 34 35
  • 43.16 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7579 35
  • 56 (a)
OneToMany
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes hus1 34
  • 44.87 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU11262 34
  • 42.03 (n)
Species where no ortholog for HUS1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for HUS1 Gene

ENSEMBL:
Gene Tree for HUS1 (if available)
TreeFam:
Gene Tree for HUS1 (if available)

Paralogs for HUS1 Gene

Paralogs for HUS1 Gene

(1) SIMAP similar genes for HUS1 Gene using alignment to 7 proteins:

genes like me logo Genes that share paralogs with HUS1: view

Variants for HUS1 Gene

Sequence variations from dbSNP and Humsavar for HUS1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000387541 -- 47,962,624(+) GGTGA(A/G)GCAGG downstream-variant-500B
rs1000412988 -- 47,979,290(+) ACCCG(A/C)CCCGC intron-variant
rs1000510766 -- 47,975,335(+) AAAAA(A/G)GAAAG intron-variant
rs1000576176 -- 47,980,676(+) GGATT(A/C)TAGGC upstream-variant-2KB
rs1000866370 -- 47,969,655(+) GGGTG(A/G)AGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for HUS1 Gene

Variant ID Type Subtype PubMed ID
esv2387830 CNV deletion 18987734
esv2734363 CNV deletion 23290073
esv2734364 CNV deletion 23290073
esv2734365 CNV deletion 23290073
esv3613065 CNV gain 21293372
esv3613073 CNV gain 21293372
nsv464442 CNV gain 19166990
nsv470221 CNV gain 18288195
nsv606893 CNV gain 21841781
nsv830991 CNV loss 17160897

Variation tolerance for HUS1 Gene

Residual Variation Intolerance Score: 30.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.12; 38.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HUS1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
HUS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HUS1 Gene

Disorders for HUS1 Gene

Relevant External Links for HUS1

Genetic Association Database (GAD)
HUS1
Human Genome Epidemiology (HuGE) Navigator
HUS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HUS1

No disorders were found for HUS1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for HUS1 Gene

Publications for HUS1 Gene

  1. cDNA cloning and gene mapping of human homologs for Schizosaccharomyces pombe rad17, rad1, and hus1 and cloning of homologs from mouse, Caenorhabditis elegans, and Drosophila melanogaster. (PMID: 9878245) Dean F.B. … O'Donnell M. (Genomics 1998) 2 3 4 22 64
  2. Interaction and colocalization of Rad9/Rad1/Hus1 checkpoint complex with replication protein A in human cells. (PMID: 15897895) Wu X. … Zou Y. (Oncogene 2005) 3 4 22 64
  3. The human Rad9/Rad1/Hus1 damage sensor clamp interacts with DNA polymerase beta and increases its DNA substrate utilisation efficiency: implications for DNA repair. (PMID: 15314187) Toueille M. … Huebscher U. (Nucleic Acids Res. 2004) 3 4 22 64
  4. The J domain of Tpr2 regulates its interaction with the proapoptotic and cell-cycle checkpoint protein, Rad9. (PMID: 11573955) Xiang S.L. … Yamamoto K.C. (Biochem. Biophys. Res. Commun. 2001) 3 4 22 64
  5. HDAC1, a histone deacetylase, forms a complex with Hus1 and Rad9, two G2/M checkpoint Rad proteins. (PMID: 10846170) Cai R.L. … Cohen D. (J. Biol. Chem. 2000) 3 4 22 64

Products for HUS1 Gene

Sources for HUS1 Gene

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