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

    Gene ID: 78995, updated on 5-Mar-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
    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, Apr 2022]
    Expression
    Broad expression in testis (RPKM 4.5), bone marrow (RPKM 2.8) and 14 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    17q21.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (44141930..44162476)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (44995027..45015576)
    105.20220307 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. 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
    2. 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
    3. 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
    4. Control of homologous recombination by the HROB-MCM8-MCM9 pathway. Hustedt N, et al. Genes Dev, 2019 Oct 1. PMID 31467087, Free PMC Article
    5. New sequence variants associated with bone mineral density. Styrkarsdottir U, et al. Nat Genet, 2009 Jan. PMID 19079262

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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)

    Genotypes

    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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    NEW Try the new Transcript table

    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_2023_10

    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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