LOCUS       NM_172166               2721 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens mutS homolog 5 (MSH5), transcript variant 4, mRNA.
ACCESSION   NM_172166 XM_001131770
VERSION     NM_172166.4
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 2721)
  AUTHORS   Gong,C., Abbas,T., Muhammad,Z., Zhou,J., Khan,R., Ma,H., Zhang,H.,
            Shi,Q. and Shi,B.
  TITLE     A Homozygous Loss-of-Function Mutation in MSH5 Abolishes MutSgamma
            Axial Loading and Causes Meiotic Arrest in NOA-Affected Individuals
  JOURNAL   Int J Mol Sci 23 (12), 6522 (2022)
   PUBMED   35742973
  REMARK    GeneRIF: A Homozygous Loss-of-Function Mutation in MSH5 Abolishes
            MutSgamma Axial Loading and Causes Meiotic Arrest in NOA-Affected
            Individuals.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2721)
  AUTHORS   Chen,M., Yao,C., Qin,Y., Cui,X., Li,P., Ji,Z., Lin,L., Wu,H.,
            Zhou,Z., Gui,Y., Li,Z. and Gao,F.
  TITLE     Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued
            via in vivo gene editing
  JOURNAL   Signal Transduct Target Ther 7 (1), 1 (2022)
   PUBMED   34980881
  REMARK    GeneRIF: Mutations of MSH5 in nonobstructive azoospermia (NOA) and
            rescued via in vivo gene editing.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2721)
  AUTHORS   Snowden,T., Shim,K.S., Schmutte,C., Acharya,S. and Fishel,R.
  TITLE     hMSH4-hMSH5 adenosine nucleotide processing and interactions with
            homologous recombination machinery
  JOURNAL   J Biol Chem 283 (1), 145-154 (2008)
   PUBMED   17977839
  REMARK    GeneRIF: Data have identified the interaction region between the
            individual subunits of hMSH4-hMSH5 that are likely involved in
            clamp formation and show that each subunit of the heterodimer binds
            ATP.
REFERENCE   4  (bases 1 to 2721)
  AUTHORS   Sekine,H., Ferreira,R.C., Pan-Hammarstrom,Q., Graham,R.R.,
            Ziemba,B., de Vries,S.S., Liu,J., Hippen,K., Koeuth,T., Ortmann,W.,
            Iwahori,A., Elliott,M.K., Offer,S., Skon,C., Du,L., Novitzke,J.,
            Lee,A.T., Zhao,N., Tompkins,J.D., Altshuler,D., Gregersen,P.K.,
            Cunningham-Rundles,C., Harris,R.S., Her,C., Nelson,D.L.,
            Hammarstrom,L., Gilkeson,G.S. and Behrens,T.W.
  TITLE     Role for Msh5 in the regulation of Ig class switch recombination
  JOURNAL   Proc Natl Acad Sci U S A 104 (17), 7193-7198 (2007)
   PUBMED   17409188
  REMARK    GeneRIF: These findings suggest that Msh4/5 heterodimers contribute
            to class switch recombination.
REFERENCE   5  (bases 1 to 2721)
  AUTHORS   Yi,W., Wu,X., Lee,T.H., Doggett,N.A. and Her,C.
  TITLE     Two variants of MutS homolog hMSH5: prevalence in humans and
            effects on protein interaction
  JOURNAL   Biochem Biophys Res Commun 332 (2), 524-532 (2005)
   PUBMED   15907804
  REMARK    GeneRIF: The different properties associated with these two hMSH5
            variants underscore the potential functional diversity of the human
            hMSH5 gene.
            Erratum:[Biochem Biophys Res Commun. 2006 Feb 17;340(3):1018]
REFERENCE   6  (bases 1 to 2721)
  AUTHORS   Bocker,T., Barusevicius,A., Snowden,T., Rasio,D., Guerrette,S.,
            Robbins,D., Schmidt,C., Burczak,J., Croce,C.M., Copeland,T.,
            Kovatich,A.J. and Fishel,R.
  TITLE     hMSH5: a human MutS homologue that forms a novel heterodimer with
            hMSH4 and is expressed during spermatogenesis
  JOURNAL   Cancer Res 59 (4), 816-822 (1999)
   PUBMED   10029069
REFERENCE   7  (bases 1 to 2721)
  AUTHORS   Winand,N.J., Panzer,J.A. and Kolodner,R.D.
  TITLE     Cloning and characterization of the human and Caenorhabditis
            elegans homologs of the Saccharomyces cerevisiae MSH5 gene
  JOURNAL   Genomics 53 (1), 69-80 (1998)
   PUBMED   9787078
REFERENCE   8  (bases 1 to 2721)
  AUTHORS   Her,C. and Doggett,N.A.
  TITLE     Cloning, structural characterization, and chromosomal localization
            of the human orthologue of Saccharomyces cerevisiae MSH5 gene
  JOURNAL   Genomics 52 (1), 50-61 (1998)
   PUBMED   9740671
REFERENCE   9  (bases 1 to 2721)
  AUTHORS   Albertella,M.R., Jones,H., Thomson,W., Olavesen,M.G. and
            Campbell,R.D.
  TITLE     Localization of eight additional genes in the human major
            histocompatibility complex, including the gene encoding the casein
            kinase II beta subunit (CSNK2B)
  JOURNAL   Genomics 36 (2), 240-251 (1996)
   PUBMED   8812450
REFERENCE   10 (bases 1 to 2721)
  AUTHORS   Sargent,C.A., Dunham,I. and Campbell,R.D.
  TITLE     Identification of multiple HTF-island associated genes in the human
            major histocompatibility complex class III region
  JOURNAL   EMBO J 8 (8), 2305-2312 (1989)
   PUBMED   2477242
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB448226.1, AF034759.1 and
            BF116106.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 31, 2019 this sequence version replaced NM_172166.3.
            
            Summary: This gene encodes a member of the mutS family of proteins
            that are involved in DNA mismatch repair and meiotic recombination.
            This protein is similar to a Saccharomyces cerevisiae protein that
            participates in segregation fidelity and crossing-over events
            during meiosis. This protein plays a role in promoting ionizing
            radiation-induced apoptosis. This protein forms hetero-oligomers
            with another member of this family, mutS homolog 4. Polymorphisms
            in this gene have been linked to various human diseases, including
            IgA deficiency, common variable immunodeficiency, and premature
            ovarian failure. Alternative splicing results multiple transcript
            variants. Read-through transcription also exists between this gene
            and the downstream chromosome 6 open reading frame 26 (C6orf26)
            gene. [provided by RefSeq, Feb 2011].
            
            Transcript Variant: This variant (4) uses alternate in-frame splice
            sites in both the central and 3' coding regions, compared to
            variant 1, resulting in an isoform (c) that is longer than isoform
            a. Both variants 3 and 4 encode the same isoform.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074967.2133760.1, AF034759.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375750.9/ ENSP00000364903.3
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                DB448226.1         55-66
            13-2674             AF034759.1         2-2663
            2675-2721           BF116106.1         10-56               c
FEATURES             Location/Qualifiers
     source          1..2721
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..2721
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /note="mutS homolog 5"
                     /db_xref="GeneID:4439"
                     /db_xref="HGNC:HGNC:7328"
                     /db_xref="MIM:603382"
     exon            1..58
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            59..218
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     CDS             72..2576
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /note="isoform c is encoded by transcript variant 4; mutS
                     protein homolog 5"
                     /codon_start=1
                     /product="mutS protein homolog 5 isoform c"
                     /protein_id="NP_751898.1"
                     /db_xref="CCDS:CCDS4720.1"
                     /db_xref="GeneID:4439"
                     /db_xref="HGNC:HGNC:7328"
                     /db_xref="MIM:603382"
                     /translation="MASLGANPRRTPQGPRPGAASSGFPSPAPVPGPREAEEEEVEEE
                     EELAEIHLCVLWNSGYLGIAYYDTSDSTIHFMPDAPDHESLKLLQRVLDEINPQSVVT
                     SAKQDENMTRFLGKLASQEHREPKRPEIIFLPSVDFGLEISKQRLLSGNYSFIPDAMT
                     ATEKILFLSSIIPFDCLLTVRALGGLLKFLGRRRIGVELEDYNVSVPILGFKKFMLTH
                     LVNIDQDTYSVLQIFKSESHPSVYKVASGLKEGLSLFGILNRCHCKWGEKLLRLWFTR
                     PTHDLGELSSRLDVIQFFLLPQNLDMAQMLHRLLGHIKNVPLILKRMKLSHTKVSDWQ
                     VLYKTVYSALGLRDACRSLPQSIQLFRDIAQEFSDDLHHIASLIGKVVDFEGSLAENR
                     FTVLPNIDPEIDEKKRRLMGLPSFLTEVARKELENLDSRIPSCSVIYIPLIGFLLSIP
                     RLPSMVEASDFEINGLDFMFLSEEKLHYRSARTKELDALLGDLHCEIRDQETLLMYQL
                     QCQVLARAAVLTRVLDLASRLDVLLALASAARDYGYSRPRYSPQVLGVRIQNGRHPLM
                     ELCARTFVPNSTECGGDKGRVKVITGPNSSGKSIYLKQVGLITFMALVGSFVPAEEAE
                     IGAVDAIFTRIHSCESISLGLSTFMIDLNQVAKAVNNATAQSLVLIDEFGKGTNTVDG
                     LALLAAVLRHWLARGPTCPHIFVATNFLSLVQLQLLPQGPLVQYLTMETCEDGNDLVF
                     FYQVCEGVAKASHASHTAAQAGLPDKLVARGKEVSDLIRSGKPIKPVKDLLKKNQMEN
                     CQTLVDKFMKLDLEDPNLDLNVFMSQEVLPAATSIL"
     exon            219..342
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            343..423
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            424..486
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            487..608
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            609..718
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            719..754
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            755..837
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            838..883
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            884..1022
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..1085
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            1086..1214
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            1215..1287
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1397
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            1398..1478
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            1479..1566
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            1567..1756
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            1757..1883
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            1884..2033
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            2034..2108
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            2109..2252
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            2253..2390
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            2391..2464
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     exon            2465..2721
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2700..2705
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /note="hexamer: AATAAA"
     polyA_site      2721
                     /gene="MSH5"
                     /gene_synonym="G7; MUTSH5; NG23; POF13; SPGF74"
                     /note="major polyA site"
ORIGIN      
        1 cttttgcagg ctcgtggcgg tcggtcagcg gggcgttctc ccacctgtag cgactcagag
       61 cctccaagct catggcctcc ttaggagcga acccaaggag gacaccgcag ggaccgagac
      121 ctggggcggc ctcctccggc ttccccagcc cggccccagt gccgggcccc agggaggccg
      181 aggaggagga agtcgaggag gaggaggagc tggccgagat ccatctgtgt gtgctgtgga
      241 attcaggata cttgggcatt gcctactatg atactagtga ctccactatc cacttcatgc
      301 cagatgcccc agaccacgag agcctcaagc ttctccagag agttctggat gagatcaatc
      361 cccagtctgt tgttacgagt gccaaacagg atgagaatat gactcgattt ctgggaaagc
      421 ttgcctccca ggagcacaga gagcctaaaa gacctgaaat catatttttg ccaagtgtgg
      481 attttggtct ggagataagc aaacaacgcc tcctttctgg aaactactcc ttcatcccag
      541 acgccatgac tgccactgag aaaatcctct tcctctcttc cattattccc tttgactgcc
      601 tcctcacagt tcgagcactt ggagggctgc tgaagttcct gggtcgaaga agaatcgggg
      661 ttgaactgga agactataat gtcagcgtcc ccatcctggg ctttaagaaa tttatgttga
      721 ctcatctggt gaacatagat caagacactt acagtgttct acagattttt aagagtgagt
      781 ctcacccctc agtgtacaaa gtggccagtg gactgaagga ggggctcagc ctctttggaa
      841 tcctcaacag atgccactgt aagtggggag agaagctgct caggctatgg ttcacacgtc
      901 cgactcatga cctgggggag ctcagttctc gtctggacgt cattcagttt tttctgctgc
      961 cccagaatct ggacatggct cagatgctgc atcggctcct gggtcacatc aagaacgtgc
     1021 ctctgattct gaaacgcatg aagttgtccc acaccaaggt cagcgactgg caggttctct
     1081 acaagactgt gtacagtgcc ctgggcctga gggatgcctg ccgctccctg ccgcagtcca
     1141 tccagctctt tcgggacatt gcccaagagt tctctgatga cctgcaccat atcgccagcc
     1201 tcattgggaa agtagtggac tttgagggca gccttgctga aaatcgcttc acagtcctcc
     1261 ccaacataga tcctgaaatt gatgagaaaa agcgaagact gatgggactt cccagtttcc
     1321 ttactgaggt tgcccgcaag gagctggaga atctggactc ccgtattcct tcatgcagtg
     1381 tcatctacat ccctctgatt ggcttccttc tttctattcc ccgcctgcct tccatggtag
     1441 aggccagtga ctttgagatt aatggactgg acttcatgtt tctctcagag gagaagctgc
     1501 actatcgtag tgcccgaacc aaggagctgg atgcattgct gggggacctg cactgcgaga
     1561 tccgggacca ggagacgctg ctgatgtacc agctacagtg ccaggtgctg gcacgagcag
     1621 ctgtcttaac ccgagtattg gaccttgcct cccgcctgga cgtcctgctg gctcttgcca
     1681 gtgctgcccg ggactatggc tactcaaggc cgcgttactc cccacaagtc cttggggtac
     1741 gaatccagaa tggcagacat cctctgatgg aactctgtgc ccgaaccttt gtgcccaact
     1801 ccacagaatg tggtggggac aaagggaggg tcaaagtcat cactggaccc aactcatcag
     1861 ggaagagcat atacctcaaa caggtaggct tgatcacatt catggccctg gtaggcagct
     1921 ttgtgccagc agaggaggcc gaaattgggg cagtagacgc catcttcaca cgaattcata
     1981 gctgcgaatc catctccctt ggcctctcca ccttcatgat cgacctcaac caggtggcga
     2041 aagcagtgaa caatgccact gcacagtcgc tggtccttat tgatgaattt ggaaagggaa
     2101 ccaacacggt ggatgggctc gcgcttctgg ccgctgtgct ccgacactgg ctggcacgtg
     2161 gacccacatg cccccacatc tttgtggcca ccaactttct gagccttgtt cagctacaac
     2221 tgctgccaca agggcccctg gtgcagtatt tgaccatgga gacctgtgag gatggcaacg
     2281 atcttgtctt cttctatcag gtttgcgaag gtgttgcgaa ggccagccat gcctcccaca
     2341 cagctgccca ggctgggctt cctgacaagc ttgtggctcg tggcaaggag gtctcagact
     2401 tgatccgcag tggaaaaccc atcaagcctg tcaaggattt gctaaagaag aaccaaatgg
     2461 aaaattgcca gacattagtg gataagttta tgaaactgga tttggaagat cctaacctgg
     2521 acttgaacgt tttcatgagc caggaagtgc tgcctgctgc caccagcatc ctctgagagt
     2581 ccttccagtg tcctccccag cctcctgaga ctccggtggg ctgccatgcc ctctttgttt
     2641 ccttatctcc ctcagacgca gagtttttag tttctctaga aattttgttt catattagga
     2701 ataaagttta ttttgaagaa a
//
