LOCUS       NM_001171251            2698 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens homologous recombination factor with OB-fold (HROB),
            transcript variant 2, mRNA.
ACCESSION   NM_001171251
VERSION     NM_001171251.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2698)
  AUTHORS   Acharya,A., Bret,H., Huang,J.W., Mutze,M., Gose,M., Kissling,V.M.,
            Seidel,R., Ciccia,A., Guerois,R. and Cejka,P.
  TITLE     Mechanism of DNA unwinding by MCM8-9 in complex with HROB
  JOURNAL   Nat Commun 15 (1), 3584 (2024)
   PUBMED   38678026
  REMARK    GeneRIF: Mechanism of DNA unwinding by MCM8-9 in complex with HROB.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2698)
  AUTHORS   Tucker,E.J., Bell,K.M., Robevska,G., van den Bergen,J., Ayers,K.L.,
            Listyasari,N., Faradz,S.M., Dulon,J., Bakhshalizadeh,S.,
            Sreenivasan,R., Nouyou,B., Carre,W., Akloul,L., Duros,S.,
            Domin-Bernhard,M., Belaud-Rotureau,M.A., Touraine,P., Jaillard,S.
            and Sinclair,A.H.
  TITLE     Meiotic genes in premature ovarian insufficiency: variants in HROB
            and REC8 as likely genetic causes
  JOURNAL   Eur J Hum Genet 30 (2), 219-228 (2022)
   PUBMED   34707299
  REMARK    GeneRIF: Meiotic genes in premature ovarian insufficiency: variants
            in HROB and REC8 as likely genetic causes.
REFERENCE   3  (bases 1 to 2698)
  AUTHORS   Wang,C., Chen,Z., Su,D., Tang,M., Nie,L., Zhang,H., Feng,X.,
            Wang,R., Shen,X., Srivastava,M., McLaughlin,M.E., Hart,T., Li,L.
            and Chen,J.
  TITLE     C17orf53 is identified as a novel gene involved in inter-strand
            crosslink repair
  JOURNAL   DNA Repair (Amst) 95, 102946 (2020)
   PUBMED   32853826
  REMARK    GeneRIF: C17orf53 is identified as a novel gene involved in
            inter-strand crosslink repair.
REFERENCE   4  (bases 1 to 2698)
  AUTHORS   Huang,J.W., Acharya,A., Taglialatela,A., Nambiar,T.S.,
            Cuella-Martin,R., Leuzzi,G., Hayward,S.B., Joseph,S.A.,
            Brunette,G.J., Anand,R., Soni,R.K., Clark,N.L., Bernstein,K.A.,
            Cejka,P. and Ciccia,A.
  TITLE     MCM8IP activates the MCM8-9 helicase to promote DNA synthesis and
            homologous recombination upon DNA damage
  JOURNAL   Nat Commun 11 (1), 2948 (2020)
   PUBMED   32528060
  REMARK    GeneRIF: MCM8IP activates the MCM8-9 helicase to promote DNA
            synthesis and homologous recombination upon DNA damage.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2698)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   6  (bases 1 to 2698)
  AUTHORS   Hustedt,N., Saito,Y., Zimmermann,M., Alvarez-Quilon,A.,
            Setiaputra,D., Adam,S., McEwan,A., Yuan,J.Y., Olivieri,M., Zhao,Y.,
            Kanemaki,M.T., Jurisicova,A. and Durocher,D.
  TITLE     Control of homologous recombination by the HROB-MCM8-MCM9 pathway
  JOURNAL   Genes Dev 33 (19-20), 1397-1415 (2019)
   PUBMED   31467087
  REMARK    GeneRIF: 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
REFERENCE   7  (bases 1 to 2698)
  AUTHORS   Zhou,X., Qiu,Y.H., He,P., Jiang,F., Wu,L.F., Lu,X., Lei,S.F. and
            Deng,F.Y.
  TITLE     Why SNP rs227584 is associated with human BMD and fracture risk? A
            molecular and cellular study in bone cells
  JOURNAL   J Cell Mol Med 23 (2), 898-907 (2019)
   PUBMED   30370607
  REMARK    GeneRIF: The C17orf53 SNP rs227584 is associated with human bone
            density and bone fractures risk.
REFERENCE   8  (bases 1 to 2698)
  AUTHORS   Estrada,K., Styrkarsdottir,U., Evangelou,E., Hsu,Y.H., Duncan,E.L.,
            Ntzani,E.E., Oei,L., Albagha,O.M., Amin,N., Kemp,J.P., Koller,D.L.,
            Li,G., Liu,C.T., Minster,R.L., Moayyeri,A., Vandenput,L.,
            Willner,D., Xiao,S.M., Yerges-Armstrong,L.M., Zheng,H.F.,
            Alonso,N., Eriksson,J., Kammerer,C.M., Kaptoge,S.K., Leo,P.J.,
            Thorleifsson,G., Wilson,S.G., Wilson,J.F., Aalto,V., Alen,M.,
            Aragaki,A.K., Aspelund,T., Center,J.R., Dailiana,Z., Duggan,D.J.,
            Garcia,M., Garcia-Giralt,N., Giroux,S., Hallmans,G., Hocking,L.J.,
            Husted,L.B., Jameson,K.A., Khusainova,R., Kim,G.S., Kooperberg,C.,
            Koromila,T., Kruk,M., Laaksonen,M., Lacroix,A.Z., Lee,S.H.,
            Leung,P.C., Lewis,J.R., Masi,L., Mencej-Bedrac,S., Nguyen,T.V.,
            Nogues,X., Patel,M.S., Prezelj,J., Rose,L.M., Scollen,S.,
            Siggeirsdottir,K., Smith,A.V., Svensson,O., Trompet,S., Trummer,O.,
            van Schoor,N.M., Woo,J., Zhu,K., Balcells,S., Brandi,M.L.,
            Buckley,B.M., Cheng,S., Christiansen,C., Cooper,C., Dedoussis,G.,
            Ford,I., Frost,M., Goltzman,D., Gonzalez-Macias,J., Kahonen,M.,
            Karlsson,M., Khusnutdinova,E., Koh,J.M., Kollia,P., Langdahl,B.L.,
            Leslie,W.D., Lips,P., Ljunggren,O., Lorenc,R.S., Marc,J.,
            Mellstrom,D., Obermayer-Pietsch,B., Olmos,J.M.,
            Pettersson-Kymmer,U., Reid,D.M., Riancho,J.A., Ridker,P.M.,
            Rousseau,F., Slagboom,P.E., Tang,N.L., Urreizti,R., Van Hul,W.,
            Viikari,J., Zarrabeitia,M.T., Aulchenko,Y.S.,
            Castano-Betancourt,M., Grundberg,E., Herrera,L., Ingvarsson,T.,
            Johannsdottir,H., Kwan,T., Li,R., Luben,R., Medina-Gomez,C.,
            Palsson,S.T., Reppe,S., Rotter,J.I., Sigurdsson,G., van Meurs,J.B.,
            Verlaan,D., Williams,F.M., Wood,A.R., Zhou,Y., Gautvik,K.M.,
            Pastinen,T., Raychaudhuri,S., Cauley,J.A., Chasman,D.I.,
            Clark,G.R., Cummings,S.R., Danoy,P., Dennison,E.M., Eastell,R.,
            Eisman,J.A., Gudnason,V., Hofman,A., Jackson,R.D., Jones,G.,
            Jukema,J.W., Khaw,K.T., Lehtimaki,T., Liu,Y., Lorentzon,M.,
            McCloskey,E., Mitchell,B.D., Nandakumar,K., Nicholson,G.C.,
            Oostra,B.A., Peacock,M., Pols,H.A., Prince,R.L., Raitakari,O.,
            Reid,I.R., Robbins,J., Sambrook,P.N., Sham,P.C., Shuldiner,A.R.,
            Tylavsky,F.A., van Duijn,C.M., Wareham,N.J., Cupples,L.A.,
            Econs,M.J., Evans,D.M., Harris,T.B., Kung,A.W., Psaty,B.M.,
            Reeve,J., Spector,T.D., Streeten,E.A., Zillikens,M.C.,
            Thorsteinsdottir,U., Ohlsson,C., Karasik,D., Richards,J.B.,
            Brown,M.A., Stefansson,K., Uitterlinden,A.G., Ralston,S.H.,
            Ioannidis,J.P., Kiel,D.P. and Rivadeneira,F.
  TITLE     Genome-wide meta-analysis identifies 56 bone mineral density loci
            and reveals 14 loci associated with risk of fracture
  JOURNAL   Nat Genet 44 (5), 491-501 (2012)
   PUBMED   22504420
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 2698)
  AUTHORS   Styrkarsdottir,U., Halldorsson,B.V., Gretarsdottir,S.,
            Gudbjartsson,D.F., Walters,G.B., Ingvarsson,T., Jonsdottir,T.,
            Saemundsdottir,J., Snorradottir,S., Center,J.R., Nguyen,T.V.,
            Alexandersen,P., Gulcher,J.R., Eisman,J.A., Christiansen,C.,
            Sigurdsson,G., Kong,A., Thorsteinsdottir,U. and Stefansson,K.
  TITLE     New sequence variants associated with bone mineral density
  JOURNAL   Nat Genet 41 (1), 15-17 (2009)
   PUBMED   19079262
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK291924.1 and AL834295.1.
            
            On Jun 2, 2019 this sequence version replaced NM_001171251.2.
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK291924.1, DRR138522.697187.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000585683.6/ ENSP00000466618.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2507              AK291924.1         23-2529
            2508-2698           AL834295.1         2483-2673
FEATURES             Location/Qualifiers
     source          1..2698
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.31"
     gene            1..2698
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP; ODG11"
                     /note="homologous recombination factor with OB-fold"
                     /db_xref="GeneID:78995"
                     /db_xref="HGNC:HGNC:28460"
                     /db_xref="MIM:618611"
     exon            1..216
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP; ODG11"
                     /inference="alignment:Splign:2.1.0"
     CDS             214..2154
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP; ODG11"
                     /note="isoform 2 is encoded by transcript variant 2;
                     uncharacterized protein C17orf53; MCM8-9-Interacting
                     Protein); homologous recombincation factor with OB-fold;
                     homologous recombination OB-fold protein"
                     /codon_start=1
                     /product="homologous recombination OB-fold protein isoform
                     2"
                     /protein_id="NP_001164722.1"
                     /db_xref="CCDS:CCDS59293.1"
                     /db_xref="GeneID:78995"
                     /db_xref="HGNC:HGNC:28460"
                     /db_xref="MIM:618611"
                     /translation="MACSLQKLFAVEEEFEDEDFLSAVEDAENRFTGSLPVNAGRLRP
                     VSSRPQETVQAQSSRLLLLHPTAPSEALGLPDLDLCLPASSTPSADSRPSCIGAAPLR
                     PVSTSSSWIGNQRRVTVTEVLRETARPQSSALHPLLTFESQQQQVGGFEGPEQDEFDK
                     VLASMELEEPGMELECGVSSEAIPILPAQQREGSVLAKKARVVDLSGSCQKGPVPAIH
                     KAGIMSAQDESLDPVIQCRTPRPPLRPGAVGHLPVPTALTVPTQQLHWEVCPQRSPVQ
                     ALQPLQAARGTIQSSPQNRFPCQPFQSPSSWLSGKAHLPRPRTPNSSCSTPSRTSSGL
                     FPRIPLQPQAPVSSIGSPVGTPKGPQGALQTPIVTNHLVQLVTAASRTPQQPTHPSTR
                     AKTRRFPGPAGILPHQQSGRSLEDIMVSAPQTPTHGALAKFQTEIVASSQASVEEDFG
                     RGPWLTMKSTLGLDERDPSCFLCTYSIVMVLRKAALKQLPRNKVPNMAVMIKSLTRST
                     MDASVVFKDPTGEMQGTVHRLLLETCQNELKPGSVLLLKQIGVFSPSLRNHYLNVTPN
                     NLVHIYSPDSGDGSFLKPSQPFPKDSGSFQHDVAAKPEEGFRTAQNLEAEASPEEELP
                     EADDLDGLLSELPEDFFCGTSS"
     exon            217..267
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP; ODG11"
                     /inference="alignment:Splign:2.1.0"
     exon            268..1437
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP; ODG11"
                     /inference="alignment:Splign:2.1.0"
     exon            1438..1521
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP; ODG11"
                     /inference="alignment:Splign:2.1.0"
     exon            1522..1662
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP; ODG11"
                     /inference="alignment:Splign:2.1.0"
     exon            1663..1771
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP; ODG11"
                     /inference="alignment:Splign:2.1.0"
     exon            1772..1857
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP; ODG11"
                     /inference="alignment:Splign:2.1.0"
     exon            1858..1983
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP; ODG11"
                     /inference="alignment:Splign:2.1.0"
     exon            1984..2092
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP; ODG11"
                     /inference="alignment:Splign:2.1.0"
     exon            2093..2698
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP; ODG11"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2680..2685
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP; ODG11"
                     /note="hexamer: AATAAA"
     polyA_site      2698
                     /gene="HROB"
                     /gene_synonym="C17orf53; MCM8IP; ODG11"
                     /note="major polyA site"
ORIGIN      
        1 agtggcggcg tcttcgaatg cggcctaagg cgcctgccgc cagtctcctg gcgactttcc
       61 ctatatcgca gagactcatc cctctgaccc cagcccggaa gcactgtccc tcggagtccg
      121 agacttccac ctgggtcgtg tccaaggccc cggcgactcc ccggactcgg ggtgccgggc
      181 caacctcccc gccgaggccc acccgccgtc gctatggcgt gcagtttgca gaagctgttt
      241 gctgtggaag aggagtttga agatgaggat ttcttgtctg ctgtggagga tgcagagaac
      301 cggtttactg gctcactgcc tgtgaatgct gggcgcctga gacctgtctc ttctaggcca
      361 caggagactg tgcaggcaca gtcctccagg ctgctgctgt tacaccccac tgctccctca
      421 gaggctttgg gcctgccaga cttggacctc tgcctccctg cctccagcac gcccagtgct
      481 gacagccgtc catcatgcat aggagcagct cccctaaggc ctgtctctac ttccagcagc
      541 tggattggca atcagagaag agtgacagtg acagaagtgc tcagagagac agcaagacct
      601 cagtcctcag ccttacaccc cctactcacc tttgagagcc aacagcagca agttggtggc
      661 tttgaggggc ctgaacaaga cgaatttgat aaagtcctgg caagcatgga gttggaggag
      721 cctggcatgg agctggaatg tggagtcagc agtgaggcca taccaatcct gcctgcccag
      781 cagcgggagg gttcagtatt ggctaaaaaa gcccgggtag ttgatctgag tggatcttgc
      841 cagaaggggc ctgtgcctgc catccacaaa gcgggtatca tgtccgccca ggatgagtct
      901 ctagatcctg tcatccaatg taggactcca cgacccccct tgagacctgg tgctgtgggt
      961 caccttcctg ttccaactgc cttaacagtt cccactcagc aactccactg ggaagtctgt
     1021 ccgcaacgct cccctgttca agcacttcag cctctccaag ctgctagagg gaccattcag
     1081 agcagccctc aaaatcgttt cccttgtcag ccattccagt ctccaagttc ctggttaagt
     1141 ggcaaagctc atttacccag acctcgaact cccaactcaa gctgttctac tccctcaagg
     1201 actagctctg gattatttcc tcggataccc ttacaaccgc aagctccagt gtcttccatt
     1261 gggtctcctg ttggtacccc aaaaggtccc cagggagctc tgcagacacc catagtcacc
     1321 aaccacctgg tgcagctagt cactgctgcc agccggacac cccagcagcc cacccatccc
     1381 tccacccgag ccaaaactcg ccgtttccct ggcccagctg ggatcctgcc tcaccagcag
     1441 agtgggagaa gtctggagga catcatggtt tccgcgcccc aaactccaac ccatggtgct
     1501 ctggctaaat tccagacaga gattgttgct agttcccagg catctgtgga ggaggatttt
     1561 gggcgagggc cctggctgac catgaaatcc acgctaggcc tggatgagag agaccctagc
     1621 tgcttcctct gtacctacag cattgtcatg gtgctgcgca aggcagccct gaagcagctt
     1681 cctaggaaca aggtccccaa catggcggtg atgatcaagt ccctgactcg gagcacaatg
     1741 gacgccagtg tggttttcaa ggaccccacg ggagagatgc aggggacggt gcacaggttg
     1801 ctgctggaga cgtgccagaa tgagctgaag cctggctcag tgctgctgct gaagcagatt
     1861 ggagtgtttt ctccttcact tcgaaatcac tacctcaacg tgacacccaa caacctggtc
     1921 catatttaca gcccggattc tggggatggg agcttcctca agccatctca gcccttcccc
     1981 aaggattcag ggagcttcca gcatgatgtg gctgcaaagc ccgaggaagg cttcagaaca
     2041 gcacagaacc tagaggcaga ggcgtcccct gaggaagaac tcccagaagc agatgacctg
     2101 gatggactcc tgagtgagct tcctgaagac ttcttctgtg ggaccagtag ttgagactgc
     2161 cccaacgcag gacaacccac catgagcagg cagctctggg catgtgtctg gtcacatcca
     2221 agggggagaa gaaggccagc atgattggag agtggacaca gccggggggc ttctgtggtt
     2281 gctcccaccc tgggtgtttt ccctgagagc cccctcatct ctgcgctgcc ctcactttgg
     2341 gccttccttt gccgttggca ccagaatccg gccggagact ggctctccag ccaacaagaa
     2401 aggcctgtca ccctcgcctt gggtgtccct ctcctgcctc agcttaattt tagaggatat
     2461 tgggcctggt tttcttgtcc cttcataccc tagtccctgg acagctgagg agatgaaagg
     2521 agccacacca caacaatggc ggcctgcccc tccacacagg ggagaagcac gctcaggctt
     2581 cctctgcttt gtctcttcag acctgtggtt gctctgctca tccatgccca aggttcccag
     2641 gtgcaggaca gaggtgtggc ctattgtacc ttgttctgaa ataaagcatc tcctgctt
//
