The protein encoded by this gene is most closely related to HUS1, a component of a cell cycle checkpoint protein complex involved in cell cycle arrest in response to DNA damage. This protein can interact with the check point protein RAD1 but not with RAD9. Overexpression of this protein has been shown to induce cell death, which suggests a related but distinct role of this prot... See more...

Aliases for HUS1B Gene

Aliases for HUS1B Gene

  • HUS1 Checkpoint Clamp Component B 2 3 5
  • Checkpoint Protein HUS1B 3 4
  • HHUS1B 3 4
  • HUS1 (S. Pombe) Checkpoint Homolog B 2
  • HUS1 Checkpoint Homolog B (S. Pombe) 2
  • HUS1 Checkpoint Homolog B 3
  • HUS1B 5

External Ids for HUS1B Gene

Previous GeneCards Identifiers for HUS1B Gene

  • GC06M000646
  • GC06M000600

Summaries for HUS1B Gene

Entrez Gene Summary for HUS1B Gene

  • The protein encoded by this gene is most closely related to HUS1, a component of a cell cycle checkpoint protein complex involved in cell cycle arrest in response to DNA damage. This protein can interact with the check point protein RAD1 but not with RAD9. Overexpression of this protein has been shown to induce cell death, which suggests a related but distinct role of this protein, as compared to the HUS1. [provided by RefSeq, Jul 2008]

GeneCards Summary for HUS1B Gene

HUS1B (HUS1 Checkpoint Clamp Component B) is a Protein Coding gene. Diseases associated with HUS1B include Anterior Segment Dysgenesis 3. Among its related pathways are DNA Damage Response. An important paralog of this gene is HUS1.

Additional gene information for HUS1B Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for HUS1B Gene

Genomics for HUS1B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for HUS1B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J000654 Enhancer 0.3 Ensembl 600.7 +1.0 963 1.6 ZBTB33 TARDBP HUS1B lnc-HUS1B-1 ENSG00000272463 RF00017-5189 EXOC2 IRF4
GH06J000679 Enhancer 1.1 ENCODE CraniofacialAtlas 13.6 -25.9 -25859 5.8 PRDM10 ZNF629 LEF1 IKZF1 ZNF692 PRDM1 MTA2 ZIC2 ZSCAN4 PKNOX1 EXOC2 HUS1B ENSG00000272463 ENSG00000271727 LOC100421511 lnc-HUS1B-2 lnc-HUS1B-3
GH06J000305 Enhancer 0.6 FANTOM5 dbSUPER 10.2 +352.9 352903 0.1 HNRNPL CTCF EED RAD21 ZNF143 HUS1B ENSG00000287265 DUSP22 piR-49294 IRF4
GH06J000625 Enhancer 0.8 Ensembl ENCODE 4.9 +31.4 31363 3.6 CTCF ZNF692 PKNOX1 REST ARNT RAD21 ZNF335 BHLHE40 ZFP69B ZNF654 RF00017-5189 ENSG00000272463 HUS1B EXOC2 piR-33848 IRF4
GH06J000707 Promoter/Enhancer 1.9 FANTOM5 Ensembl ENCODE CraniofacialAtlas 1.5 -52.9 -52949 4.7 RNF2 REST KDM1A POLR2A BACH1 FOXA1 ZIC2 IKZF2 EZH2 EED ENSG00000272463 EXOC2 DUSP22 HUS1B lnc-EXOC2-10-004 ENSG00000271727 FOXQ1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HUS1B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for HUS1B

Top Transcription factor binding sites by QIAGEN in the HUS1B gene promoter:
  • aMEF-2
  • C/EBPalpha
  • E2F
  • E2F-1
  • FOXO1
  • FOXO1a
  • GR
  • GR-alpha
  • MEF-2A
  • Tal-1

Genomic Locations for HUS1B Gene

Genomic Locations for HUS1B Gene
chr6:655,939-656,964
(GRCh38/hg38)
Size:
1,026 bases
Orientation:
Minus strand
chr6:655,939-656,964
(GRCh37/hg19)
Size:
1,026 bases
Orientation:
Minus strand

Genomic View for HUS1B Gene

Genes around HUS1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HUS1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HUS1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HUS1B Gene

Proteins for HUS1B Gene

  • Protein details for HUS1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8NHY5-HUS1B_HUMAN
    Recommended name:
    Checkpoint protein HUS1B
    Protein Accession:
    Q8NHY5
    Secondary Accessions:
    • Q5T4Z2

    Protein attributes for HUS1B Gene

    Size:
    278 amino acids
    Molecular mass:
    30982 Da
    Quaternary structure:
    • Interacts with RAD1 and RAD9B.

neXtProt entry for HUS1B Gene

Post-translational modifications for HUS1B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HUS1B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HUS1B Gene

Domains & Families for HUS1B Gene

Gene Families for HUS1B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for HUS1B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for HUS1B Gene

GenScript: Design optimal peptide antigens:
  • Checkpoint protein HUS1B (HUS1B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NHY5

UniProtKB/Swiss-Prot:

HUS1B_HUMAN :
  • Belongs to the HUS1 family.
Family:
  • Belongs to the HUS1 family.
genes like me logo Genes that share domains with HUS1B: view

Function for HUS1B Gene

Phenotypes From GWAS Catalog for HUS1B Gene

genes like me logo Genes that share phenotypes with HUS1B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HUS1B

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for HUS1B Gene

Localization for HUS1B Gene

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 HUS1B gene
Compartment Confidence
nucleus 3
extracellular 1
mitochondrion 1
peroxisome 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for HUS1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IEA --
GO:0030896 checkpoint clamp complex IBA 21873635
GO:0035861 site of double-strand break IBA 21873635
genes like me logo Genes that share ontologies with HUS1B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for HUS1B Gene

Pathways & Interactions for HUS1B Gene

PathCards logo

SuperPathways for HUS1B Gene

genes like me logo Genes that share pathways with HUS1B: view

Pathways by source for HUS1B Gene

2 BioSystems pathways for HUS1B Gene

Gene Ontology (GO) - Biological Process for HUS1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IEA --
GO:0000723 telomere maintenance IBA 21873635
GO:0000724 double-strand break repair via homologous recombination IBA 21873635
GO:0006289 nucleotide-excision repair IBA 21873635
GO:0031573 intra-S DNA damage checkpoint IBA 21873635
genes like me logo Genes that share ontologies with HUS1B: view

No data available for SIGNOR curated interactions for HUS1B Gene

Drugs & Compounds for HUS1B Gene

No Compound Related Data Available

Transcripts for HUS1B Gene

mRNA/cDNA for HUS1B Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HUS1B

Alternative Splicing Database (ASD) splice patterns (SP) for HUS1B Gene

No ASD Table

Relevant External Links for HUS1B Gene

GeneLoc Exon Structure for
HUS1B

Expression for HUS1B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for HUS1B Gene

mRNA differential expression in normal tissues according to GTEx for HUS1B Gene

This gene is overexpressed in Testis (x6.0).

Protein differential expression in normal tissues from HIPED for HUS1B Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for HUS1B Gene



Protein tissue co-expression partners for HUS1B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for HUS1B

SOURCE GeneReport for Unigene cluster for HUS1B Gene:

Hs.669039

mRNA Expression by UniProt/SwissProt for HUS1B Gene:

Q8NHY5-HUS1B_HUMAN
Tissue specificity: Expressed strongly in testis, less in spleen, thymus, prostate, colon and leukocytes.

Evidence on tissue expression from TISSUES for HUS1B Gene

  • Liver(4)
genes like me logo Genes that share expression patterns with HUS1B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for HUS1B Gene

Orthologs for HUS1B Gene

This gene was present in the common ancestor of animals.

Orthologs for HUS1B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia HUS1B 30
  • 97.48 (n)
Mouse
(Mus musculus)
Mammalia Hus1b 30 17 31
  • 74.55 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 57 (a)
ManyToMany
-- 31
  • 41 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 51 (a)
OneToMany
Chicken
(Gallus gallus)
Aves -- 31
  • 49 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 44 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii HUS1 31
  • 48 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Hus1-like 31
  • 26 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea hus-1 31
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7579 31
  • 36 (a)
OneToMany
Species where no ortholog for HUS1B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • 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)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for HUS1B Gene

ENSEMBL:
Gene Tree for HUS1B (if available)
TreeFam:
Gene Tree for HUS1B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for HUS1B: view image

Paralogs for HUS1B Gene

Paralogs for HUS1B Gene

(1) SIMAP similar genes for HUS1B Gene using alignment to 1 proteins:

  • HUS1B_HUMAN
genes like me logo Genes that share paralogs with HUS1B: view

Variants for HUS1B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for HUS1B Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
732647 Benign: not provided 656,681(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
768058 Benign: not provided 656,416(-) T/C MISSENSE_VARIANT,INTRON_VARIANT
792029 Benign: not provided 656,539(-) C/A MISSENSE_VARIANT,INTRON_VARIANT
rs1211554 - p.Asp268Tyr
rs17136239 - p.Gln201Arg

Additional dbSNP identifiers (rs#s) for HUS1B Gene

Structural Variations from Database of Genomic Variants (DGV) for HUS1B Gene

Variant ID Type Subtype PubMed ID
esv2759401 CNV gain+loss 17122850
esv3576089 CNV gain 25503493
esv3607835 CNV loss 21293372
esv3607858 CNV loss 21293372
esv3607859 CNV gain 21293372
nsv1023279 CNV gain 25217958
nsv462609 CNV gain 19166990
nsv5169 CNV deletion 18451855
nsv600781 CNV gain 21841781
nsv600782 CNV gain 21841781

Variation tolerance for HUS1B Gene

Residual Variation Intolerance Score: 86.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.33; 53.57% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HUS1B Gene

Human Gene Mutation Database (HGMD)
HUS1B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HUS1B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HUS1B Gene

Disorders for HUS1B Gene

MalaCards: The human disease database

(1) MalaCards diseases for HUS1B Gene - From: DISEASES

Disorder Aliases PubMed IDs
anterior segment dysgenesis 3
  • iris hypoplasia with glaucoma
- elite association - COSMIC cancer census association via MalaCards
Search HUS1B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for HUS1B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with HUS1B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for HUS1B Gene

Publications for HUS1B Gene

  1. Identification and characterization of a paralog of human cell cycle checkpoint gene HUS1. (PMID: 11944979) Hang H … Lieberman HB (Genomics 2002) 2 3 4
  2. Clamping down on mammalian meiosis. (PMID: 24013428) Lyndaker AM … Lieberman HB (Cell cycle (Georgetown, Tex.) 2013) 2 3
  3. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 41
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4

Products for HUS1B Gene

Sources for HUS1B Gene