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

    Gene ID: 3364, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:5309
    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
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    Genomic context

    See HUS1 in Genome Data Viewer
    Location:
    7p12.3
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (47963288..47979615, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (48125574..48141862, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (48002885..48019212, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 6862 Neighboring gene long intergenic non-protein coding RNA 525 Neighboring gene Sharpr-MPRA regulatory region 14324 Neighboring gene polycystin 1 like 1, transient receptor potential channel interacting Neighboring gene PKD1L1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:47928290-47928890 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr7:47936298-47936819 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:47936820-47937340 Neighboring gene NANOG hESC enhancer GRCh37_chr7:47954627-47955128 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25982 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25983 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:47980802-47982001 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25984 Neighboring gene Sharpr-MPRA regulatory region 5513 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18169 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25985 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18170 Neighboring gene uncharacterized LOC105375270 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:48028674-48029515 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:48029516-48030356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25986 Neighboring gene Sad1 and UNC84 domain containing 3 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr7:48067895-48069094 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18171 Neighboring gene OCT4 hESC enhancer GRCh37_chr7:48078286-48078787 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:48081079-48081256 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:48087955-48089154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:48089290-48089790 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in DNA damage response TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in DNA repair TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cellular response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in double-strand break repair via homologous recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in embryo development ending in birth or egg hatching IEA
    Inferred from Electronic Annotation
    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 regulation of protein phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to UV IEA
    Inferred from Electronic Annotation
    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
     
    part_of checkpoint clamp complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleolus IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in site of double-strand break IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      B4DFI9, 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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      47963288..47979615 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      48125574..48141862 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)