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

Gene ID: 3364, updated on 9-Dec-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (47963288..47979615, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (48125574..48141862, complement)
RS_2024_09 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 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)

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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_001363683.2NP_001350612.1  checkpoint protein HUS1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC069282
    Consensus CDS
    CCDS87501.1
    Related
    ENSP00000416588.1, ENST00000432325.6
    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_2024_08

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)