HROB (homologous recombination factor with OB-fold)

Gene

• Entrez ID: 78995
• Gene name: Homologous recombination factor with OB-fold
• Gene symbol: HROB
• Synonyms (NCBI Gene): C17orf53, MCM8IP, ODG11
• Chromosome: 17
• Chromosome location: 17q21.31

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000725	Process	Recombinational repair	IEA
GO:0000731	Process	DNA synthesis involved in DNA repair	IMP	31467087
GO:0003677	Function	DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	ISS
GO:0005515	Function	Protein binding	IPI	31467087, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006310	Process	DNA recombination	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IMP	31467087
GO:0007292	Process	Female gamete generation	IEA
GO:0007292	Process	Female gamete generation	ISS
GO:0036297	Process	Interstrand cross-link repair	IMP	31467087
GO:0048232	Process	Male gamete generation	IEA
GO:0048232	Process	Male gamete generation	ISS
GO:0071897	Process	DNA biosynthetic process	IEA
GO:0090734	Component	Site of DNA damage	IMP	31467087

Other IDs

• MIM: 618611
• HGNC: 28460
• e!Ensembl: ENSG00000125319

Protein

• UniProt ID: Q8N3J3
• Protein name: Homologous recombination OB-fold protein
• Protein function: DNA-binding protein involved in homologous recombination that acts by recruiting the MCM8-MCM9 helicase complex to sites of DNA damage to promote DNA repair synthesis.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15072	DUF4539	493 → 576	Domain of unknown function (DUF4539)	Family

• Sequence:

  MACSLQKLFAVEEEFEDEDFLSAVEDAENRFTGSLPVNAGRLRPVSSRPQETVQAQSSRL
  LLLHPTAPSEALGLPDLDLCLPASSTPSADSRPSCIGAAPLRPVSTSSSWIGNQRRVTVT
  EVLRETARPQSSALHPLLTFESQQQQVGGFEGPEQDEFDKVLASMELEEPGMELECGVSS
  EAIPILPAQQREGSVLAKKARVVDLSGSCQKGPVPAIHKAGIMSAQDESLDPVIQCRTPR
  PPLRPGAVGHLPVPTALTVPTQQLHWEVCPQRSPVQALQPLQAARGTIQSSPQNRFPCQP
  FQSPSSWLSGKAHLPRPRTPNSSCSTPSRTSSGLFPRIPLQPQAPVSSIGSPVGTPKGPQ
  GALQTPIVTNHLVQLVTAASRTPQQPTHPSTRAKTRRFPGPAGILPHQQSGRSLEDIMVS
  APQTPTHGALAKFQTEIVASSQASVEEDFGRGPWLTMKSTLGLDERDPSCFLCTYSIVMV
  LRKQAALKQLPRNKVPNMAVMIKSLTRSTMDASVVFKDPTGEMQGTVHRLLLETCQNELK
  PGSVLLLKQIGVFSPSLRNHYLNVTPNNLVHIYSPDSGDGSFLKPSQPFPKDSGSFQHDV
  AAKPEEGFRTAQNLEAEASPEEELPEADDLDGLLSELPEDFFCGTSS

• Sequence length: 647

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Ovarian dysgenesis 11	Likely pathogenic; Pathogenic	rs762836620	RCV004595619	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Premature ovarian insufficiency	Likely pathogenic; Pathogenic	rs762836620	RCV001839427	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Hypersensitivity Delayed	Hypersensitivity	Pubtator	38105698	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	30370607	Associate	★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	30370607	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	30370607	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations