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    HUS1B HUS1 checkpoint clamp component B [ Homo sapiens (human) ]

    Gene ID: 135458, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HUS1Bprovided by HGNC
    Official Full Name
    HUS1 checkpoint clamp component Bprovided by HGNC
    Primary source
    HGNC:HGNC:16485
    See related
    Ensembl:ENSG00000188996 MIM:609713; AllianceGenome:HGNC:16485
    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
    Summary
    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]
    Orthologs
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    Genomic context

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    See HUS1B in Genome Data Viewer
    Location:
    6p25.3
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (655939..657100, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (515149..516310, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (655939..657100, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancers GRCh37_chr6:291666-292166 and GRCh37_chr6:292167-292667 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23818 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:293614-293770 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16804 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:314342-314521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23823 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23825 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23826 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23827 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23828 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:324055-324866 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23829 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:329543-330742 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23831 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23832 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23830 Neighboring gene dual specificity phosphatase 22 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16805 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23833 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:342926-343426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23835 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:351472-352326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23836 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23837 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:361141-361640 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23838 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:373619-374192 Neighboring gene MPRA-validated peak5616 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23839 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:378942-379888 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23841 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16806 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16807 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16812 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16811 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16809 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16808 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16810 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23842 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23843 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23844 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23845 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23846 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23847 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23848 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23849 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23851 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23850 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:434746-434910 Neighboring gene MPRA-validated peak5617 silencer Neighboring gene interferon regulatory factor 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16814 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23854 Neighboring gene MPRA-validated peak5618 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr6:517255-517445 Neighboring gene exocyst complex component 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:551909-552730 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:557275-557462 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:563721-564920 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:582671-583870 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23855 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16815 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23856 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:660063-661010 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:659114-660062 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23858 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:692466-693352 Neighboring gene MARK2 pseudogene 18 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:694782-695290 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:701331-701850 Neighboring gene MPRA-validated peak5620 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16818 Neighboring gene uncharacterized LOC105374873

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. The HUS1B promoter is hypomethylated in the placentas of low-birth-weight infants. Rumbajan JM, et al. Gene, 2016 Jun 1. PMID 26911255
    2. Potentially functional variants in nucleotide excision repair pathway genes predict platinum treatment response of Chinese ovarian cancer patients. Li H, et al. Carcinogenesis, 2020 Sep 24. PMID 32663249
    3. Clamping down on mammalian meiosis. Lyndaker AM, et al. Cell Cycle, 2013 Oct 1. PMID 24013428, Free PMC Article
    4. Identification and characterization of a paralog of human cell cycle checkpoint gene HUS1. Hang H, et al. Genomics, 2002 Apr. PMID 11944979
    5. Identification and characterization of RAD9B, a paralog of the RAD9 checkpoint gene. Dufault VM, et al. Genomics, 2003 Dec. PMID 14611806

    See all (14) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Potentially functional variants in nucleotide excision repair pathway genes predict platinum treatment response of Chinese ovarian cancer patients.
      Title: Potentially functional variants in nucleotide excision repair pathway genes predict platinum treatment response of Chinese ovarian cancer patients.
    2. The HUS1B promoter is hypomethylated in the placentas of low-birth-weight infants.
      Title: The HUS1B promoter is hypomethylated in the placentas of low-birth-weight infants.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: A Large-scale genetic association study of esophageal adenocarcinoma risk.
    4. HUS1B directly interacts with RAD1, but not RAD9 or HUS1, whereas HUS1 can bind RAD1, RAD9, and another molecule of HUS1, suggesting that HUS1B cannot simply substitute for HUS1 in the complex.
      Title: Identification and characterization of a paralog of human cell cycle checkpoint gene HUS1.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Linkage and association of successful aging to the 6q25 region in large Amish kindreds.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC126746, MGC126748

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in meiotic DNA integrity checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic DNA replication checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic intra-S DNA damage checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nucleotide-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in telomere maintenance IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    part_of checkpoint clamp complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in site of double-strand break IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    checkpoint protein HUS1B
    Names
    HUS1 checkpoint homolog b
    hHUS1B

    NCBI Reference Sequences (RefSeq)

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    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_148959.4 → NP_683762.2  checkpoint protein HUS1B

      See identical proteins and their annotated locations for NP_683762.2

      Status: REVIEWED

      Source sequence(s)
      AL357054
      Consensus CDS
      CCDS4470.1
      UniProtKB/Swiss-Prot
      Q5T4Z2, Q8NHY5
      Related
      ENSP00000370293.2, ENST00000380907.3
      Conserved Domains (1) summary
      pfam04005
      Location:1 → 278
      Hus1; Hus1-like protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      655939..657100 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      515149..516310 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8NHY5.2 GenPept UniProtKB/Swiss-Prot:Q8NHY5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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