MSH4_HUMAN
ID MSH4_HUMAN Reviewed; 936 AA.
AC O15457; Q5T4U6; Q8NEB3; Q9UNP8;
DT 15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
DT 30-APR-2003, sequence version 2.
DT 03-AUG-2022, entry version 170.
DE RecName: Full=MutS protein homolog 4;
DE Short=hMSH4;
GN Name=MSH4;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=9299235; DOI=10.1006/geno.1997.4857;
RA Paquis-Flucklinger V., Santucci-Darmanin S., Paul R., Saunieres A.,
RA Turc-Carel C., Desnuelle C.;
RT "Cloning and expression analysis of a meiosis-specific MutS homolog: the
RT human MSH4 gene.";
RL Genomics 44:188-194(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RA Her C., Doggett N.;
RT "hMSH4 cDNA sequence, a variant.";
RL Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS VAL-60; THR-90; THR-97;
RP LYS-162; CYS-589 AND ASN-914.
RG NIEHS SNPs program;
RL Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16710414; DOI=10.1038/nature04727;
RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT "The DNA sequence and biological annotation of human chromosome 1.";
RL Nature 441:315-321(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
CC -!- FUNCTION: Involved in meiotic recombination. Required for reciprocal
CC recombination and proper segregation of homologous chromosomes at
CC meiosis.
CC -!- SUBUNIT: Heterooligomer of MSH4 and MSH5.
CC -!- INTERACTION:
CC O15457; O00303: EIF3F; NbExp=6; IntAct=EBI-6092777, EBI-711990;
CC O15457; O43196: MSH5; NbExp=5; IntAct=EBI-6092777, EBI-6092730;
CC -!- SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:Q99MT2}.
CC -!- TISSUE SPECIFICITY: Testis and ovary specific.
CC -!- SIMILARITY: Belongs to the DNA mismatch repair MutS family.
CC {ECO:0000305}.
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/msh4/";
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DR EMBL; U89293; AAB72039.1; -; mRNA.
DR EMBL; AF104243; AAD17920.1; -; mRNA.
DR EMBL; AY268350; AAP03427.1; -; Genomic_DNA.
DR EMBL; AL357314; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL445464; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471059; EAX06392.1; -; Genomic_DNA.
DR EMBL; BC033030; AAH33030.1; -; mRNA.
DR CCDS; CCDS670.1; -.
DR RefSeq; NP_002431.2; NM_002440.3.
DR AlphaFoldDB; O15457; -.
DR SMR; O15457; -.
DR BioGRID; 110575; 14.
DR CORUM; O15457; -.
DR IntAct; O15457; 4.
DR MINT; O15457; -.
DR STRING; 9606.ENSP00000263187; -.
DR iPTMnet; O15457; -.
DR PhosphoSitePlus; O15457; -.
DR BioMuta; MSH4; -.
DR EPD; O15457; -.
DR jPOST; O15457; -.
DR MassIVE; O15457; -.
DR PaxDb; O15457; -.
DR PeptideAtlas; O15457; -.
DR PRIDE; O15457; -.
DR ProteomicsDB; 48679; -.
DR Antibodypedia; 33475; 155 antibodies from 20 providers.
DR DNASU; 4438; -.
DR Ensembl; ENST00000263187.4; ENSP00000263187.3; ENSG00000057468.7.
DR GeneID; 4438; -.
DR KEGG; hsa:4438; -.
DR MANE-Select; ENST00000263187.4; ENSP00000263187.3; NM_002440.4; NP_002431.2.
DR UCSC; uc001dhd.3; human.
DR CTD; 4438; -.
DR DisGeNET; 4438; -.
DR GeneCards; MSH4; -.
DR HGNC; HGNC:7327; MSH4.
DR HPA; ENSG00000057468; Tissue enhanced (brain, epididymis, testis).
DR MalaCards; MSH4; -.
DR MIM; 602105; gene.
DR neXtProt; NX_O15457; -.
DR OpenTargets; ENSG00000057468; -.
DR PharmGKB; PA31135; -.
DR VEuPathDB; HostDB:ENSG00000057468; -.
DR eggNOG; KOG0220; Eukaryota.
DR GeneTree; ENSGT00550000074897; -.
DR HOGENOM; CLU_002472_7_2_1; -.
DR InParanoid; O15457; -.
DR OMA; AIAMLDM; -.
DR OrthoDB; 138168at2759; -.
DR PhylomeDB; O15457; -.
DR TreeFam; TF300572; -.
DR PathwayCommons; O15457; -.
DR Reactome; R-HSA-912446; Meiotic recombination.
DR SignaLink; O15457; -.
DR BioGRID-ORCS; 4438; 12 hits in 1074 CRISPR screens.
DR ChiTaRS; MSH4; human.
DR GeneWiki; MSH4; -.
DR GenomeRNAi; 4438; -.
DR Pharos; O15457; Tbio.
DR PRO; PR:O15457; -.
DR Proteomes; UP000005640; Chromosome 1.
DR RNAct; O15457; protein.
DR Bgee; ENSG00000057468; Expressed in right coronary artery and 90 other tissues.
DR Genevisible; O15457; HS.
DR GO; GO:0005694; C:chromosome; ISS:UniProtKB.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0005713; C:recombination nodule; IEA:Ensembl.
DR GO; GO:0000795; C:synaptonemal complex; IEA:Ensembl.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0140664; F:ATP-dependent DNA damage sensor activity; IEA:InterPro.
DR GO; GO:0003677; F:DNA binding; TAS:ProtInc.
DR GO; GO:0003690; F:double-stranded DNA binding; IBA:GO_Central.
DR GO; GO:0030983; F:mismatched DNA binding; IEA:InterPro.
DR GO; GO:0007292; P:female gamete generation; IEA:Ensembl.
DR GO; GO:0007129; P:homologous chromosome pairing at meiosis; IEA:Ensembl.
DR GO; GO:0006298; P:mismatch repair; IEA:InterPro.
DR GO; GO:0001541; P:ovarian follicle development; IEA:Ensembl.
DR GO; GO:0007131; P:reciprocal meiotic recombination; IBA:GO_Central.
DR GO; GO:0007283; P:spermatogenesis; IEA:Ensembl.
DR Gene3D; 3.30.420.110; -; 1.
DR Gene3D; 3.40.50.300; -; 1.
DR InterPro; IPR000432; DNA_mismatch_repair_MutS_C.
DR InterPro; IPR007861; DNA_mismatch_repair_MutS_clamp.
DR InterPro; IPR007696; DNA_mismatch_repair_MutS_core.
DR InterPro; IPR036187; DNA_mismatch_repair_MutS_sf.
DR InterPro; IPR007860; DNA_mmatch_repair_MutS_con_dom.
DR InterPro; IPR036678; MutS_con_dom_sf.
DR InterPro; IPR045076; MutS_family.
DR InterPro; IPR027417; P-loop_NTPase.
DR PANTHER; PTHR11361; PTHR11361; 1.
DR Pfam; PF05188; MutS_II; 1.
DR Pfam; PF05192; MutS_III; 1.
DR Pfam; PF05190; MutS_IV; 1.
DR Pfam; PF00488; MutS_V; 1.
DR SMART; SM00534; MUTSac; 1.
DR SMART; SM00533; MUTSd; 1.
DR SUPFAM; SSF48334; SSF48334; 1.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS00486; DNA_MISMATCH_REPAIR_2; 1.
PE 1: Evidence at protein level;
KW ATP-binding; Chromosome; DNA-binding; Meiosis; Nucleotide-binding;
KW Reference proteome.
FT CHAIN 1..936
FT /note="MutS protein homolog 4"
FT /id="PRO_0000115197"
FT REGION 1..83
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 103..133
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 680..687
FT /ligand="ATP"
FT /ligand_id="ChEBI:CHEBI:30616"
FT /evidence="ECO:0000255"
FT VARIANT 60
FT /note="A -> V (in dbSNP:rs5745311)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_018831"
FT VARIANT 90
FT /note="A -> T (in dbSNP:rs5745324)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_018832"
FT VARIANT 97
FT /note="A -> T (in dbSNP:rs5745325)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_018833"
FT VARIANT 162
FT /note="E -> K (in dbSNP:rs5745329)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_018834"
FT VARIANT 589
FT /note="Y -> C (in dbSNP:rs5745459)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_018835"
FT VARIANT 914
FT /note="S -> N (in dbSNP:rs5745549)"
FT /evidence="ECO:0000269|Ref.3"
FT /id="VAR_018836"
FT CONFLICT 19..20
FT /note="SS -> VV (in Ref. 1; AAB72039)"
FT /evidence="ECO:0000305"
FT CONFLICT 365
FT /note="I -> V (in Ref. 6; AAH33030)"
FT /evidence="ECO:0000305"
FT CONFLICT 407
FT /note="K -> E (in Ref. 1; AAB72039)"
FT /evidence="ECO:0000305"
FT CONFLICT 531
FT /note="F -> L (in Ref. 1; AAB72039)"
FT /evidence="ECO:0000305"
FT CONFLICT 534
FT /note="A -> V (in Ref. 1; AAB72039)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 936 AA; 104756 MW; 5A82684379346441 CRC64;
MLRPEISSTS PSAPAVSPSS GETRSPQGPR YNFGLQETPQ SRPSVQVVSA STCPGTSGAA
GDRSSSSSSL PCPAPNSRPA QGSYFGNKRA YAENTVASNF TFGASSSSAR DTNYPQTLKT
PLSTGNPQRS GYKSWTPQVG YSASSSSAIS AHSPSVIVAV VEGRGLARGE IGMASIDLKN
PQIILSQFAD NTTYAKVITK LKILSPLEII MSNTACAVGN STKLFTLITE NFKNVNFTTI
QRKYFNETKG LEYIEQLCIA EFSTVLMEVQ SKYYCLAAVA ALLKYVEFIQ NSVYAPKSLK
ICFQGSEQTA MIDSSSAQNL ELLINNQDYR NNHTLFGVLN YTKTPGGSRR LRSNILEPLV
DIETINMRLD CVQELLQDEE LFFGLQSVIS RFLDTEQLLS VLVQIPKQDT VNAAESKITN
LIYLKHTLEL VDPLKIAMKN CNTPLLRAYY GSLEDKRFGI ILEKIKTVIN DDARYMKGCL
NMRTQKCYAV RSNINEFLDI ARRTYTEIVD DIAGMISQLG EKYSLPLRTS FSSARGFFIQ
MTTDCIALPS DQLPSEFIKI SKVKNSYSFT SADLIKMNER CQESLREIYH MTYMIVCKLL
SEIYEHIHCL YKLSDTVSML DMLLSFAHAC TLSDYVRPEF TDTLAIKQGW HPILEKISAE
KPIANNTYVT EGSNFLIITG PNMSGKSTYL KQIALCQIMA QIGSYVPAEY SSFRIAKQIF
TRISTDDDIE TNSSTFMKEM KEIAYILHNA NDKSLILIDE LGRGTNTEEG IGICYAVCEY
LLSLKAFTLF ATHFLELCHI DALYPNVENM HFEVQHVKNT SRNKEAILYT YKLSKGLTEE
KNYGLKAAEV SSLPPSIVLD AKEITTQITR QILQNQRSTP EMERQRAVYH LATRLVQTAR
NSQLDPDSLR IYLSNLKKKY KEDFPRTEQV PEKTEE
