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

Summary

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: mouse all
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Genomic context

Location:: 6p25.3

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (655939..657100, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (515149..516310, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (655939..657100, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: A Large-scale genetic association study of esophageal adenocarcinoma risk.
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.

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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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:481344

NoName (e-PCR)
- UniSTS:485332

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.