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Description:
MutS protein homolog 5.
Molecular weight: 92875
View which proteins in this organism that is involved with DNA Repair;
classified after biological processes (using data from the GOA project):
mismatch repair( GO:0006298 )
Important dates:
15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
01-JUN-1998, sequence version 1.
07-FEB-2006, entry version 39.
Phylogenetic order:
Eukaryota Metazoa Chordata Craniata Vertebrata Euteleostomi Mammalia Eutheria Euarchontoglires Primates Catarrhini Hominidae Homo.
To calculate the pI (Isoelectric point - the pH where a protein has a neutral charge),
go to this page and enter the protein ID (e.g 3MG_ECOLI): http://us.expasy.org/tools/pi_tool.html
Links to references in other databases for protein MSH5_HUMAN:
Keywords:
Alternative splicing; ATP-binding; DNA-binding; Meiosis; Nucleotide-binding; Polymorphism.
References:
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
RX MEDLINE=98414509; PubMed=9740671; DOI=10.1006/geno.1998.5374;
RA Her C., Doggett N.A.;
RT "Cloning, structural characterization, and chromosomal localization of
RT the human orthologue of Saccharomyces cerevisiae MSH5 gene.";
RL Genomics 52:50-61(1998).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX MEDLINE=99151527; PubMed=10029069;
RA Bocker T., Barusevicius A., Snowden T., Rasio D., Guerrette S.,
RA Robbins D., Schmidt C., Burczak J., Croce C.M., Copeland T.,
RA Kovatich A.J., Fishel R.;
RT "hMSH5: a human MutS homologue that forms a novel heterodimer with
RT hMSH4 and is expressed during spermatogenesis.";
RL Cancer Res. 59:816-822(1999).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
RX MEDLINE=99005534; PubMed=9787078; DOI=10.1006/geno.1998.5447;
RA Winand N.J., Panzer J.A., Kolodner R.D.;
RT "Cloning and characterization of the human and Caenorhabditis elegans
RT homologs of the Saccharomyces cerevisiae MSH5 gene.";
RL Genomics 53:69-80(1998).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RA Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
RA Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
RA Phelan M., Farmer A.;
RT "Cloning of human full-length CDSs in BD Creator(TM) system donor
RT vector.";
RL Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-29; PHE-85;
RP CYS-202; PHE-206; GLY-351; PHE-377 AND SER-786.
RA Livingston R.J., Rieder M.J., Rajkumar N., Downing T.K., Olson A.N.,
RA Nguyen C.P., Gildersleeve H., Cassidy C.M., Johnson E.J.,
RA Swanson J.E., McFarland I., Yool B., Park C., Nickerson D.A.;
RT "NIEHS-SNPs, environmental genome project, NIEHS ES15478, Department
RT of Genome Sciences, Seattle, WA (URL: http://egp.gs.washington.edu).";
RL Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases.
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Hirakawa M., Yamaguchi H., Imai K., Shimada J., Shiina S., Tamiya G.,
RA Oka A., Inoko H.;
RT "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.";
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14656967; DOI=10.1101/gr.1736803;
RA Xie T., Rowen L., Aguado B., Ahearn M.E., Madan A., Qin S.,
RA Campbell R.D., Hood L.;
RT "Analysis of the gene-dense major histocompatibility complex class III
RT region and its comparison to mouse.";
RL Genome Res. 13:2621-2636(2003).
RN [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX MEDLINE=22935763; PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E.,
RA Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Andrews T.D., Ashwell R.I.S.,
RA Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J.,
RA Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P.,
RA Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E.,
RA Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A.,
RA Frankland J., French L., Garner P., Garnett J., Ghori M.J.,
RA Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M.,
RA Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S.,
RA Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R.,
RA Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E.,
RA Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A.,
RA Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C.,
RA Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M.,
RA Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K.,
RA McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T.,
RA Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R.,
RA Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W.,
RA Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M.,
RA Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L.,
RA Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J.,
RA Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B.,
RA Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L.,
RA Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W.,
RA Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A.,
RA Durbin R., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
RC TISSUE=Kidney, and Skin;
RX MEDLINE=22388257; PubMed=12477932; DOI=10.1073/pnas.242603899;
RA Strausberg R.L., Feingold E.A., Grouse L.H., Derge J.G.,
RA Klausner R.D., Collins F.S., Wagner L., Shenmen C.M., Schuler G.D.,
RA Altschul S.F., Zeeberg B., Buetow K.H., Schaefer C.F., Bhat N.K.,
RA Hopkins R.F., Jordan H., Moore T., Max S.I., Wang J., Hsieh F.,
RA Diatchenko L., Marusina K., Farmer A.A., Rubin G.M., Hong L.,
RA Stapleton M., Soares M.B., Bonaldo M.F., Casavant T.L., Scheetz T.E.,
RA Brownstein M.J., Usdin T.B., Toshiyuki S., Carninci P., Prange C.,
RA Raha S.S., Loquellano N.A., Peters G.J., Abramson R.D., Mullahy S.J.,
RA Bosak S.A., McEwan P.J., McKernan K.J., Malek J.A., Gunaratne P.H.,
RA Richards S., Worley K.C., Hale S., Garcia A.M., Gay L.J., Hulyk S.W.,
RA Villalon D.K., Muzny D.M., Sodergren E.J., Lu X., Gibbs R.A.,
RA Fahey J., Helton E., Ketteman M., Madan A., Rodrigues S., Sanchez A.,
RA Whiting M., Madan A., Young A.C., Shevchenko Y., Bouffard G.G.,
RA Blakesley R.W., Touchman J.W., Green E.D., Dickson M.C.,
RA Rodriguez A.C., Grimwood J., Schmutz J., Myers R.M.,
RA Butterfield Y.S.N., Krzywinski M.I., Skalska U., Smailus D.E.,
RA Schnerch A., Schein J.E., Jones S.J.M., Marra M.A.;
RT "Generation and initial analysis of more than 15,000 full-length human
RT and mouse cDNA sequences.";
RL Proc. Natl. Acad. Sci. U.S.A. 99:16899-16903(2002).
Feature:
CHAIN 1 834 MutS protein homolog 5.
/FTId=PRO_0000115202.
NP_BIND 592 599 ATP (Potential).
VARSPLIC 179 179 T -> TPPGDLRFTPIPLLIPSQ (in isoform 3 and
isoform 4).
/FTId=VSP_017113.
VARSPLIC 654 654 Q -> QQ (in isoform 2 and isoform 4).
/FTId=VSP_017114.
VARSPLIC 745 774 Missing (in isoform 4).
/FTId=VSP_017115.
VARIANT 29 29 P -> S.
/FTId=VAR_025082.
VARIANT 85 85 L -> F.
/FTId=VAR_025083.
VARIANT 202 202 Y -> C.
/FTId=VAR_025084.
VARIANT 206 206 V -> F.
/FTId=VAR_025085.
VARIANT 351 351 R -> G.
/FTId=VAR_025086.
VARIANT 377 377 L -> F.
/FTId=VAR_025087.
VARIANT 786 786 P -> S.
/FTId=VAR_025088.
CONFLICT 764 764 P -> L (in Ref. 1; AAC62533).
Comments:
-!- FUNCTION: Involved in meiotic recombination. Facilitate crossovers
between homologs during meiosis (By similarity).
-!- SUBUNIT: Heterooligomer of MSH4 and MSH5.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=4;
Name=1;
IsoId=O43196-1; Sequence=Displayed;
Name=2;
IsoId=O43196-2; Sequence=VSP_017114;
Note=No experimental confirmation available;
Name=3;
IsoId=O43196-3; Sequence=VSP_017113;
Note=No experimental confirmation available;
Name=4;
IsoId=O43196-4; Sequence=VSP_017113, VSP_017114, VSP_017115;
Note=No experimental confirmation available;
-!- TISSUE SPECIFICITY: Ubiquitous, but highly expressed in testis,
and thymus.
-!- SIMILARITY: Belongs to the DNA mismatch repair mutS family.
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Sequence length: 834
MASLGANPRR TPQGPRPGAA SSGFPSPAPV PGPREAEEEE VEEEEELAEI HLCVLWNSGY
LGIAYYDTSD STIHFMPDAP DHESLKLLQR VLDEINPQSV VTSAKQDENM TRFLGKLASQ
EHREPKRPEI IFLPSVDFGL EISKQRLLSG NYSFIPDAMT ATEKILFLSS IIPFDCLLTV
RALGGLLKFL GRRRIGVELE DYNVSVPILG FKKFMLTHLV NIDQDTYSVL QIFKSESHPS
VYKVASGLKE GLSLFGILNR CHCKWGEKLL RLWFTRPTHD LGELSSRLDV IQFFLLPQNL
DMAQMLHRLL GHIKNVPLIL KRMKLSHTKV SDWQVLYKTV YSALGLRDAC RSLPQSIQLF
RDIAQEFSDD LHHIASLIGK VVDFEGSLAE NRFTVLPNID PEIDEKKRRL MGLPSFLTEV
ARKELENLDS RIPSCSVIYI PLIGFLLSIP RLPSMVEASD FEINGLDFMF LSEEKLHYRS
ARTKELDALL GDLHCEIRDQ ETLLMYQLQC QVLARAAVLT RVLDLASRLD VLLALASAAR
DYGYSRPRYS PQVLGVRIQN GRHPLMELCA RTFVPNSTEC GGDKGRVKVI TGPNSSGKSI
YLKQVGLITF MALVGSFVPA EEAEIGAVDA IFTRIHSCES ISLGLSTFMI DLNQVAKAVN
NATAQSLVLI DEFGKGTNTV DGLALLAAVL RHWLARGPTC PHIFVATNFL SLVQLQLLPQ
GPLVQYLTME TCEDGNDLVF FYQVCEGVAK ASHASHTAAQ AGLPDKLVAR GKEVSDLIRS
GKPIKPVKDL LKKNQMENCQ TLVDKFMKLD LEDPNLDLNV FMSQEVLPAA TSIL