HUS1B (HUS1 checkpoint clamp component B)

Gene

• Entrez ID: 135458
• Gene name: HUS1 checkpoint clamp component B
• Gene symbol: HUS1B
• Synonyms (NCBI Gene): -
• Chromosome: 6
• Chromosome location: 6p25.3
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2451496	hsa-miR-3173-3p	CLIP-seq
MIRT2451497	hsa-miR-3202	CLIP-seq
MIRT2451498	hsa-miR-4437	CLIP-seq
MIRT2451499	hsa-miR-4476	CLIP-seq
MIRT2451500	hsa-miR-450b-5p	CLIP-seq
MIRT2451501	hsa-miR-507	CLIP-seq
MIRT2451502	hsa-miR-518a-5p	CLIP-seq
MIRT2451503	hsa-miR-527	CLIP-seq
MIRT2451504	hsa-miR-557	CLIP-seq
MIRT2451496	hsa-miR-3173-3p	CLIP-seq
MIRT2451497	hsa-miR-3202	CLIP-seq
MIRT2451498	hsa-miR-4437	CLIP-seq
MIRT2451499	hsa-miR-4476	CLIP-seq
MIRT2451500	hsa-miR-450b-5p	CLIP-seq
MIRT2451501	hsa-miR-507	CLIP-seq
MIRT2451502	hsa-miR-518a-5p	CLIP-seq
MIRT2451503	hsa-miR-527	CLIP-seq
MIRT2451504	hsa-miR-557	CLIP-seq
MIRT2451496	hsa-miR-3173-3p	CLIP-seq
MIRT2451497	hsa-miR-3202	CLIP-seq
MIRT2451498	hsa-miR-4437	CLIP-seq
MIRT2451499	hsa-miR-4476	CLIP-seq
MIRT2451500	hsa-miR-450b-5p	CLIP-seq
MIRT2451501	hsa-miR-507	CLIP-seq
MIRT2451502	hsa-miR-518a-5p	CLIP-seq
MIRT2451503	hsa-miR-527	CLIP-seq
MIRT2451504	hsa-miR-557	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000077	Process	DNA damage checkpoint signaling	IEA
GO:0000723	Process	Telomere maintenance	IBA
GO:0000724	Process	Double-strand break repair via homologous recombination	IBA
GO:0005730	Component	Nucleolus	IEA
GO:0006289	Process	Nucleotide-excision repair	IBA
GO:0030896	Component	Checkpoint clamp complex	IBA
GO:0030896	Component	Checkpoint clamp complex	IEA
GO:0031573	Process	Mitotic intra-S DNA damage checkpoint signaling	IBA
GO:0033314	Process	Mitotic DNA replication checkpoint signaling	IBA
GO:0035861	Component	Site of double-strand break	IBA
GO:0044778	Process	Meiotic DNA integrity checkpoint signaling	IBA

Other IDs

• MIM: 609713
• HGNC: 16485
• e!Ensembl: ENSG00000188996

Protein

• UniProt ID: Q8NHY5
• Protein name: Checkpoint protein HUS1B (hHUS1B)
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04005	Hus1	1 → 278	Hus1-like protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed strongly in testis, less in spleen, thymus, prostate, colon and leukocytes. {ECO:0000269|PubMed:11944979}.
• Sequence:

  MKFRAKITGKGCLELFIHVSGTVARLAKVCVLRVRPDSLCFGPAGSGGLHEARLWCEVRQ
  GAFQQFRMEGVSEDLDEIHLELTAEHLSRAARSAAGASSLKLQLTHKRRPSLTVAVELVS
  SLGRARSVVHDLPVRVLPRRVWRDCLPPSLRASDASIRLPRWRTLRSIVERMANVGSHVL
  VEANLSGRMTLSIETEVVSIQSYFKNLGNPPQSAVGVPENRDLESMVQVRVDNRKLLQFL
  EGQQIHPTTALCNIWDNTLLQLVLVQEDVSLQYFIPAL

• Sequence length: 278

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	35655316	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25305228		★☆☆☆☆ Found in Text Mining only