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Description:
MutS protein homolog 4.
Molecular weight: 10475
View which proteins in this organism that is involved with DNA Repair;
classified after biological processes (using data from the GOA project):
DNA repair( GO:0006281 ) mismatch repair( GO:0006298 )
Important dates:
15-DEC-1998, integrated into UniProtKB/Swiss-Prot.
30-APR-2003, sequence version 2.
07-FEB-2006, entry version 41.
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 MSH4_HUMAN:
| Database | Pointer | Add. info#1 | Add. info#2 |
| EMBL | U89293 | AAB72039.1 | - |
| EMBL | AF104243 | AAD17920.1 | - |
| EMBL | AY268350 | AAP03427.1 | - |
| EMBL | BC033030 | AAH33030.1 | - |
| HSSP | Q56215 | 1EWR | |
| Ensembl | ENSG00000057468 | Homo sapiens.1 | |
| H-InvDB | HIX0000708 | -.1 | |
| HGNC | HGNC:7327 | MSH4.1 | |
| MIM | 602105 | gene. | |
| GO | GO:0005634 | C:nucleus | TAS. |
| GO | GO:0003677 | F:DNA binding | TAS. |
| GO | GO:0007131 | P:meiotic recombination | TAS. |
| InterPro | IPR000432 | MutS_C. | |
| InterPro | IPR007860 | MutS_II. | |
| InterPro | IPR007696 | MutS_III. | |
| InterPro | IPR007861 | MutS_IV. | |
| Pfam | PF05188 | MutS_II | 1. |
| Pfam | PF05192 | MutS_III | 1. |
| Pfam | PF05190 | MutS_IV | 1. |
| Pfam | PF00488 | MutS_V | 1. |
| ProDom | PD001263 | MutS_C | 1. |
| SMART | SM00534 | MUTSac | 1. |
| SMART | SM00533 | MUTSd | 1. |
| PROSITE | PS00486 | DNA_MISMATCH_REPAIR_2 | 1. |
Keywords:
ATP-binding; DNA-binding; Meiosis; Nucleotide-binding; Polymorphism.
References:
RN [1]
RP NUCLEOTIDE SEQUENCE.
RX MEDLINE=97446137; 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:
RT the human MSH4 gene.";
RL Genomics 44:188-194(1997).
RN [2]
RP NUCLEOTIDE SEQUENCE.
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;
RP THR-97; LYS-162; CYS-589 AND ASN-914.
RA Rieder M.J., Livingston R.J., Daniels M.R., Montoya M.A., Chung M.-W.,
RA Miyamoto K.E., Nguyen C.P., Nguyen D.A., Poel C.L., Robertson P.D.,
RA Schackwitz W.S., Sherwood J.K., Witrak L.A., 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 (APR-2003) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Testis;
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 1 936 MutS protein homolog 4.
/FTId=PRO_0000115197.
NP_BIND 680 687 ATP (Potential).
VARIANT 60 60 A -> V (in dbSNP:5745311).
/FTId=VAR_018831.
VARIANT 90 90 A -> T (in dbSNP:5745324).
/FTId=VAR_018832.
VARIANT 97 97 A -> T (in dbSNP:5745325).
/FTId=VAR_018833.
VARIANT 162 162 E -> K (in dbSNP:5745329).
/FTId=VAR_018834.
VARIANT 589 589 Y -> C (in dbSNP:5745459).
/FTId=VAR_018835.
VARIANT 914 914 S -> N (in dbSNP:5745549).
/FTId=VAR_018836.
CONFLICT 19 20 SS -> VV (in Ref. 1).
CONFLICT 365 365 I -> V (in Ref. 4).
CONFLICT 407 407 K -> E (in Ref. 1).
CONFLICT 531 531 F -> L (in Ref. 1).
CONFLICT 534 534 A -> V (in Ref. 1).
Comments:
-!- FUNCTION: Involved in meiotic recombination. Required for
reciprocal recombination and proper segregation of homologous
chromosomes at meiosis.
-!- SUBUNIT: Heterooligomer of MSH4 and MSH5.
-!- TISSUE SPECIFICITY: Testis and ovary specific.
-!- SIMILARITY: Belongs to the DNA mismatch repair mutS family.
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Sequence length: 936
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