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HROB homologous recombination factor with OB-fold [ Homo sapiens (human) ]

Gene ID: 78995, updated on 2-Nov-2024

Summary

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Official Symbol
HROBprovided by HGNC
Official Full Name
homologous recombination factor with OB-foldprovided by HGNC
Primary source
HGNC:HGNC:28460
See related
Ensembl:ENSG00000125319 MIM:618611; AllianceGenome:HGNC:28460
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ODG11; MCM8IP; C17orf53
Summary
Predicted to enable single-stranded DNA binding activity. Involved in DNA synthesis involved in DNA repair and interstrand cross-link repair. Located in site of DNA damage. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 4.5), bone marrow (RPKM 2.8) and 14 other tissues See more
Orthologs
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Genomic context

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See HROB in Genome Data Viewer
Location:
17q21.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44141930..44162476)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44995027..45015576)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (42219298..42239844)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene histone deacetylase 5 Neighboring gene uncharacterized LOC105371789 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8573 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8574 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:42202517-42203016 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:42215327-42215850 Neighboring gene RNA, U6 small nuclear 131, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12253 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8576 Neighboring gene Sharpr-MPRA regulatory region 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12254 Neighboring gene ASB16 antisense RNA 1 Neighboring gene ankyrin repeat and SOCS box containing 16 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:42263664-42264198 Neighboring gene transmembrane and ubiquitin like domain containing 2 Neighboring gene ataxin 7 like 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Why SNP rs227584 is associated with human BMD and fracture risk? A molecular and cellular study in bone cells. Zhou X, et al. J Cell Mol Med, 2019 Feb. PMID 30370607, Free PMC Article
  2. C17orf53 is identified as a novel gene involved in inter-strand crosslink repair. Wang C, et al. DNA Repair (Amst), 2020 Nov. PMID 32853826, Free PMC Article
  3. Mechanism of DNA unwinding by MCM8-9 in complex with HROB. Acharya A, et al. Nat Commun, 2024 Apr 27. PMID 38678026, Free PMC Article
  4. Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes. Tucker EJ, et al. Eur J Hum Genet, 2022 Feb. PMID 34707299, Free PMC Article
  5. Control of homologous recombination by the HROB-MCM8-MCM9 pathway. Hustedt N, et al. Genes Dev, 2019 Oct 1. PMID 31467087, Free PMC Article

See all (29) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mechanism of DNA unwinding by MCM8-9 in complex with HROB.
    Title: Mechanism of DNA unwinding by MCM8-9 in complex with HROB.
  2. Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
    Title: Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes.
  3. C17orf53 is identified as a novel gene involved in inter-strand crosslink repair.
    Title: C17orf53 is identified as a novel gene involved in inter-strand crosslink repair.
  4. MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage.
    Title: MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and homologous recombination upon DNA damage.
  5. The C17orf53 SNP rs227584 is associated with human bone density and bone fractures risk.
    Title: Why SNP rs227584 is associated with human BMD and fracture risk? A molecular and cellular study in bone cells.
  6. C17orf53/HROB is an OB-fold-containing factor involved in HR that acts by recruiting the MCM8-MCM9 helicase to sites of DNA damage to promote DNA synthesis
    Title: Control of homologous recombination by the HROB-MCM8-MCM9 pathway.
  7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: New sequence variants associated with bone mineral density.
Submit: New GeneRIF Correction

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
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog
New sequence variants associated with bone mineral density.
EBI GWAS Catalog

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

Homology

Clone Names

  • MGC3130, FLJ11594

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables single-stranded DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
  
Process Evidence Code Pubs
involved_in DNA damage response IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in DNA synthesis involved in DNA repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in female gamete generation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in interstrand cross-link repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in male gamete generation ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in recombinational repair IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in nucleus IEA
Inferred from Electronic Annotation
more info
  
located_in site of DNA damage IMP
Inferred from Mutant Phenotype
more info
 PubMed 

General protein information

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Preferred Names
homologous recombination OB-fold protein
Names
MCM8-9-Interacting Protein)
homologous recombincation factor with OB-fold
uncharacterized protein C17orf53

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_001171251.3 → NP_001164722.1  homologous recombination OB-fold protein isoform 2

    See identical proteins and their annotated locations for NP_001164722.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) lacks one internal amino acid, compared to isoform 1.
    Source sequence(s)
    AK291924, AL834295
    Consensus CDS
    CCDS59293.1
    UniProtKB/Swiss-Prot
    Q8N3J3
    Related
    ENSP00000466618.1, ENST00000585683.6
    Conserved Domains (2) summary
    pfam15072
    Location:492 → 575
    DUF4539; Domain of unknown function (DUF4539)
    pfam15671
    Location:274 → 432
    PRR18; Proline-rich protein family 18

  2. NM_001321310.2 → NP_001308239.1  homologous recombination OB-fold protein isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC004596, AL834295, BC000121, HY032119
    Consensus CDS
    CCDS82136.1
    UniProtKB/Swiss-Prot
    Q8N3J3
    Related
    ENSP00000245382.5, ENST00000245382.6
    Conserved Domains (2) summary
    pfam14857
    Location:236 → 340
    TMEM151; TMEM151 family
    pfam15072
    Location:417 → 500
    DUF4539; Domain of unknown function (DUF4539)

  3. NM_001321311.2 → NP_001308240.1  homologous recombination OB-fold protein isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC004596, AL834295, HY032119
    UniProtKB/Swiss-Prot
    Q8N3J3
    Conserved Domains (1) summary
    PHA03247
    Location:238 → 428
    PHA03247; large tegument protein UL36; Provisional

  4. NM_024032.5 → NP_076937.2  homologous recombination OB-fold protein isoform 1

    See identical proteins and their annotated locations for NP_076937.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AL834295, HY032119
    Consensus CDS
    CCDS11477.1
    UniProtKB/Swiss-Prot
    A8K7A9, Q8N3J3, Q9BWM9, Q9HAI1
    Related
    ENSP00000313500.4, ENST00000319977.8
    Conserved Domains (2) summary
    pfam15072
    Location:493 → 576
    DUF4539; Domain of unknown function (DUF4539)
    pfam15671
    Location:274 → 432
    PRR18; Proline-rich protein family 18

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_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    44141930..44162476
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525191.4 → XP_011523493.1  homologous recombination OB-fold protein isoform X8

    Conserved Domains (2) summary
    pfam15072
    Location:493 → 576
    DUF4539; Domain of unknown function (DUF4539)
    pfam15671
    Location:274 → 432
    PRR18; Proline-rich protein family 18

  2. XM_011525192.3 → XP_011523494.1  homologous recombination OB-fold protein isoform X11

    Conserved Domains (2) summary
    pfam15072
    Location:493 → 521
    DUF4539; Domain of unknown function (DUF4539)
    pfam15671
    Location:274 → 432
    PRR18; Proline-rich protein family 18

  3. XM_047436679.1 → XP_047292635.1  homologous recombination OB-fold protein isoform X9

  4. XM_047436681.1 → XP_047292637.1  homologous recombination OB-fold protein isoform X12

  5. XM_011525195.3 → XP_011523497.1  homologous recombination OB-fold protein isoform X22

  6. XM_011525189.3 → XP_011523491.1  homologous recombination OB-fold protein isoform X4

    Conserved Domains (3) summary
    pfam14857
    Location:236 → 340
    TMEM151; TMEM151 family
    pfam15072
    Location:446 → 529
    DUF4539; Domain of unknown function (DUF4539)
    pfam15671
    Location:274 → 432
    PRR18; Proline-rich protein family 18

  7. XM_011525190.3 → XP_011523492.1  homologous recombination OB-fold protein isoform X5

    Conserved Domains (2) summary
    pfam15072
    Location:445 → 528
    DUF4539; Domain of unknown function (DUF4539)
    pfam15671
    Location:274 → 439
    PRR18; Proline-rich protein family 18

  8. XM_047436686.1 → XP_047292642.1  homologous recombination OB-fold protein isoform X18

  9. XM_047436690.1 → XP_047292646.1  homologous recombination OB-fold protein isoform X24

  10. XM_011525187.3 → XP_011523489.1  homologous recombination OB-fold protein isoform X1

    Conserved Domains (2) summary
    pfam14857
    Location:236 → 340
    TMEM151; TMEM151 family
    pfam15072
    Location:492 → 575
    DUF4539; Domain of unknown function (DUF4539)

  11. XM_047436680.1 → XP_047292636.1  homologous recombination OB-fold protein isoform X10

  12. XM_047436682.1 → XP_047292638.1  homologous recombination OB-fold protein isoform X13

  13. XM_047436689.1 → XP_047292645.1  homologous recombination OB-fold protein isoform X23

  14. XM_047436677.1 → XP_047292633.1  homologous recombination OB-fold protein isoform X6

  15. XM_047436678.1 → XP_047292634.1  homologous recombination OB-fold protein isoform X7

  16. XM_047436687.1 → XP_047292643.1  homologous recombination OB-fold protein isoform X19

  17. XM_047436691.1 → XP_047292647.1  homologous recombination OB-fold protein isoform X25

  18. XM_011525188.3 → XP_011523490.1  homologous recombination OB-fold protein isoform X2

    Conserved Domains (2) summary
    pfam14857
    Location:236 → 340
    TMEM151; TMEM151 family
    pfam15072
    Location:465 → 548
    DUF4539; Domain of unknown function (DUF4539)

  19. XM_047436676.1 → XP_047292632.1  homologous recombination OB-fold protein isoform X3

  20. XM_047436684.1 → XP_047292640.1  homologous recombination OB-fold protein isoform X16

  21. XM_047436685.1 → XP_047292641.1  homologous recombination OB-fold protein isoform X17

  22. XM_047436692.1 → XP_047292648.1  homologous recombination OB-fold protein isoform X26

  23. XM_011525193.3 → XP_011523495.1  homologous recombination OB-fold protein isoform X14

    Conserved Domains (2) summary
    pfam14857
    Location:236 → 340
    TMEM151; TMEM151 family
    pfam15072
    Location:417 → 500
    DUF4539; Domain of unknown function (DUF4539)

  24. XM_047436693.1 → XP_047292649.1  homologous recombination OB-fold protein isoform X27

  25. XM_047436683.1 → XP_047292639.1  homologous recombination OB-fold protein isoform X15

  26. XM_011525194.3 → XP_011523496.1  homologous recombination OB-fold protein isoform X20

    Conserved Domains (2) summary
    pfam14857
    Location:236 → 340
    TMEM151; TMEM151 family
    pfam15072
    Location:493 → 522
    DUF4539; Domain of unknown function (DUF4539)

  27. XM_047436688.1 → XP_047292644.1  homologous recombination OB-fold protein isoform X21

  28. XM_047436694.1 → XP_047292650.1  homologous recombination OB-fold protein isoform X28

  29. XM_011525197.3 → XP_011523499.1  homologous recombination OB-fold protein isoform X29

    Conserved Domains (1) summary
    pfam15072
    Location:37 → 120
    DUF4539; Domain of unknown function (DUF4539)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    44995027..45015576
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317098.1 → XP_054173073.1  homologous recombination OB-fold protein isoform X8

  2. XM_054317101.1 → XP_054173076.1  homologous recombination OB-fold protein isoform X11

  3. XM_054317099.1 → XP_054173074.1  homologous recombination OB-fold protein isoform X9

  4. XM_054317102.1 → XP_054173077.1  homologous recombination OB-fold protein isoform X12

  5. XM_054317112.1 → XP_054173087.1  homologous recombination OB-fold protein isoform X22

  6. XM_054317094.1 → XP_054173069.1  homologous recombination OB-fold protein isoform X4

  7. XM_054317095.1 → XP_054173070.1  homologous recombination OB-fold protein isoform X5

  8. XM_054317108.1 → XP_054173083.1  homologous recombination OB-fold protein isoform X18

  9. XM_054317114.1 → XP_054173089.1  homologous recombination OB-fold protein isoform X24

  10. XM_054317091.1 → XP_054173066.1  homologous recombination OB-fold protein isoform X1

  11. XM_054317100.1 → XP_054173075.1  homologous recombination OB-fold protein isoform X10

  12. XM_054317103.1 → XP_054173078.1  homologous recombination OB-fold protein isoform X13

  13. XM_054317113.1 → XP_054173088.1  homologous recombination OB-fold protein isoform X23

  14. XM_054317096.1 → XP_054173071.1  homologous recombination OB-fold protein isoform X6

  15. XM_054317097.1 → XP_054173072.1  homologous recombination OB-fold protein isoform X7

  16. XM_054317109.1 → XP_054173084.1  homologous recombination OB-fold protein isoform X19

  17. XM_054317115.1 → XP_054173090.1  homologous recombination OB-fold protein isoform X25

  18. XM_054317092.1 → XP_054173067.1  homologous recombination OB-fold protein isoform X2

  19. XM_054317093.1 → XP_054173068.1  homologous recombination OB-fold protein isoform X3

  20. XM_054317106.1 → XP_054173081.1  homologous recombination OB-fold protein isoform X16

  21. XM_054317107.1 → XP_054173082.1  homologous recombination OB-fold protein isoform X17

  22. XM_054317116.1 → XP_054173091.1  homologous recombination OB-fold protein isoform X26

  23. XM_054317104.1 → XP_054173079.1  homologous recombination OB-fold protein isoform X14

  24. XM_054317117.1 → XP_054173092.1  homologous recombination OB-fold protein isoform X27

  25. XM_054317105.1 → XP_054173080.1  homologous recombination OB-fold protein isoform X15

  26. XM_054317110.1 → XP_054173085.1  homologous recombination OB-fold protein isoform X20

  27. XM_054317111.1 → XP_054173086.1  homologous recombination OB-fold protein isoform X21

  28. XM_054317118.1 → XP_054173093.1  homologous recombination OB-fold protein isoform X28

  29. XM_054317119.1 → XP_054173094.1  homologous recombination OB-fold protein isoform X29

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N3J3.1 GenPept UniProtKB/Swiss-Prot:Q8N3J3

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