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Protein

MutS protein homolog 4

Gene

MSH4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Involved in meiotic recombination. Required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi680 – 6878ATPSequence analysis

GO - Molecular functioni

  • ATP binding Source: UniProtKB-KW
  • DNA binding Source: ProtInc
  • mismatched DNA binding Source: GO_Central

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

Meiosis

Keywords - Ligandi

ATP-binding, DNA-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-912446. Meiotic recombination.

Names & Taxonomyi

Protein namesi
Recommended name:
MutS protein homolog 4
Short name:
hMSH4
Gene namesi
Name:MSH4
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:7327. MSH4.

Subcellular locationi

GO - Cellular componenti

  • condensed chromosome Source: Ensembl
  • nucleus Source: ProtInc
Complete GO annotation...

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31135.

Polymorphism and mutation databases

BioMutaiMSH4.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 936936MutS protein homolog 4PRO_0000115197Add
BLAST

Proteomic databases

EPDiO15457.
PaxDbiO15457.
PeptideAtlasiO15457.
PRIDEiO15457.

PTM databases

iPTMnetiO15457.
PhosphoSiteiO15457.

Expressioni

Tissue specificityi

Testis and ovary specific.

Gene expression databases

BgeeiO15457.
CleanExiHS_MSH4.
GenevisibleiO15457. HS.

Organism-specific databases

HPAiHPA028117.

Interactioni

Subunit structurei

Heterooligomer of MSH4 and MSH5.

Binary interactionsi

WithEntry#Exp.IntActNotes
EIF3FO003036EBI-6092777,EBI-711990
MSH5O431965EBI-6092777,EBI-6092730

Protein-protein interaction databases

BioGridi110575. 10 interactions.
IntActiO15457. 3 interactions.
MINTiMINT-7002259.
STRINGi9606.ENSP00000263187.

Structurei

3D structure databases

ProteinModelPortaliO15457.
SMRiO15457. Positions 170-919.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DNA mismatch repair MutS family.Curated

Phylogenomic databases

eggNOGiKOG0220. Eukaryota.
COG0249. LUCA.
GeneTreeiENSGT00550000074897.
HOGENOMiHOG000290656.
HOVERGENiHBG036910.
InParanoidiO15457.
KOiK08740.
OMAiWTPQMGY.
OrthoDBiEOG7DRJ2N.
PhylomeDBiO15457.
TreeFamiTF300572.

Family and domain databases

Gene3Di3.30.420.110. 1 hit.
3.40.50.300. 1 hit.
InterProiIPR000432. DNA_mismatch_repair_MutS_C.
IPR007861. DNA_mismatch_repair_MutS_clamp.
IPR007696. DNA_mismatch_repair_MutS_core.
IPR007860. DNA_mmatch_repair_MutS_con_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF05188. MutS_II. 1 hit.
PF05192. MutS_III. 1 hit.
PF05190. MutS_IV. 1 hit.
PF00488. MutS_V. 1 hit.
[Graphical view]
SMARTiSM00534. MUTSac. 1 hit.
SM00533. MUTSd. 1 hit.
[Graphical view]
SUPFAMiSSF48334. SSF48334. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS00486. DNA_MISMATCH_REPAIR_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

O15457-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLRPEISSTS PSAPAVSPSS GETRSPQGPR YNFGLQETPQ SRPSVQVVSA
60 70 80 90 100
STCPGTSGAA GDRSSSSSSL PCPAPNSRPA QGSYFGNKRA YAENTVASNF
110 120 130 140 150
TFGASSSSAR DTNYPQTLKT PLSTGNPQRS GYKSWTPQVG YSASSSSAIS
160 170 180 190 200
AHSPSVIVAV VEGRGLARGE IGMASIDLKN PQIILSQFAD NTTYAKVITK
210 220 230 240 250
LKILSPLEII MSNTACAVGN STKLFTLITE NFKNVNFTTI QRKYFNETKG
260 270 280 290 300
LEYIEQLCIA EFSTVLMEVQ SKYYCLAAVA ALLKYVEFIQ NSVYAPKSLK
310 320 330 340 350
ICFQGSEQTA MIDSSSAQNL ELLINNQDYR NNHTLFGVLN YTKTPGGSRR
360 370 380 390 400
LRSNILEPLV DIETINMRLD CVQELLQDEE LFFGLQSVIS RFLDTEQLLS
410 420 430 440 450
VLVQIPKQDT VNAAESKITN LIYLKHTLEL VDPLKIAMKN CNTPLLRAYY
460 470 480 490 500
GSLEDKRFGI ILEKIKTVIN DDARYMKGCL NMRTQKCYAV RSNINEFLDI
510 520 530 540 550
ARRTYTEIVD DIAGMISQLG EKYSLPLRTS FSSARGFFIQ MTTDCIALPS
560 570 580 590 600
DQLPSEFIKI SKVKNSYSFT SADLIKMNER CQESLREIYH MTYMIVCKLL
610 620 630 640 650
SEIYEHIHCL YKLSDTVSML DMLLSFAHAC TLSDYVRPEF TDTLAIKQGW
660 670 680 690 700
HPILEKISAE KPIANNTYVT EGSNFLIITG PNMSGKSTYL KQIALCQIMA
710 720 730 740 750
QIGSYVPAEY SSFRIAKQIF TRISTDDDIE TNSSTFMKEM KEIAYILHNA
760 770 780 790 800
NDKSLILIDE LGRGTNTEEG IGICYAVCEY LLSLKAFTLF ATHFLELCHI
810 820 830 840 850
DALYPNVENM HFEVQHVKNT SRNKEAILYT YKLSKGLTEE KNYGLKAAEV
860 870 880 890 900
SSLPPSIVLD AKEITTQITR QILQNQRSTP EMERQRAVYH LATRLVQTAR
910 920 930
NSQLDPDSLR IYLSNLKKKY KEDFPRTEQV PEKTEE
Length:936
Mass (Da):104,756
Last modified:April 30, 2003 - v2
Checksum:i5A82684379346441
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti19 – 202SS → VV in AAB72039 (PubMed:9299235).Curated
Sequence conflicti365 – 3651I → V in AAH33030 (PubMed:15489334).Curated
Sequence conflicti407 – 4071K → E in AAB72039 (PubMed:9299235).Curated
Sequence conflicti531 – 5311F → L in AAB72039 (PubMed:9299235).Curated
Sequence conflicti534 – 5341A → V in AAB72039 (PubMed:9299235).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti60 – 601A → V.1 Publication
Corresponds to variant rs5745311 [ dbSNP | Ensembl ].
VAR_018831
Natural varianti90 – 901A → T.1 Publication
Corresponds to variant rs5745324 [ dbSNP | Ensembl ].
VAR_018832
Natural varianti97 – 971A → T.1 Publication
Corresponds to variant rs5745325 [ dbSNP | Ensembl ].
VAR_018833
Natural varianti162 – 1621E → K.1 Publication
Corresponds to variant rs5745329 [ dbSNP | Ensembl ].
VAR_018834
Natural varianti589 – 5891Y → C.1 Publication
Corresponds to variant rs5745459 [ dbSNP | Ensembl ].
VAR_018835
Natural varianti914 – 9141S → N.1 Publication
Corresponds to variant rs5745549 [ dbSNP | Ensembl ].
VAR_018836

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U89293 mRNA. Translation: AAB72039.1.
AF104243 mRNA. Translation: AAD17920.1.
AY268350 Genomic DNA. Translation: AAP03427.1.
AL357314, AL445464 Genomic DNA. Translation: CAI22394.1.
AL445464, AL357314 Genomic DNA. Translation: CAH71812.1.
CH471059 Genomic DNA. Translation: EAX06392.1.
BC033030 mRNA. Translation: AAH33030.1.
CCDSiCCDS670.1.
RefSeqiNP_002431.2. NM_002440.3.
UniGeneiHs.216639.

Genome annotation databases

EnsembliENST00000263187; ENSP00000263187; ENSG00000057468.
GeneIDi4438.
KEGGihsa:4438.
UCSCiuc001dhd.3. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U89293 mRNA. Translation: AAB72039.1.
AF104243 mRNA. Translation: AAD17920.1.
AY268350 Genomic DNA. Translation: AAP03427.1.
AL357314, AL445464 Genomic DNA. Translation: CAI22394.1.
AL445464, AL357314 Genomic DNA. Translation: CAH71812.1.
CH471059 Genomic DNA. Translation: EAX06392.1.
BC033030 mRNA. Translation: AAH33030.1.
CCDSiCCDS670.1.
RefSeqiNP_002431.2. NM_002440.3.
UniGeneiHs.216639.

3D structure databases

ProteinModelPortaliO15457.
SMRiO15457. Positions 170-919.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110575. 10 interactions.
IntActiO15457. 3 interactions.
MINTiMINT-7002259.
STRINGi9606.ENSP00000263187.

PTM databases

iPTMnetiO15457.
PhosphoSiteiO15457.

Polymorphism and mutation databases

BioMutaiMSH4.

Proteomic databases

EPDiO15457.
PaxDbiO15457.
PeptideAtlasiO15457.
PRIDEiO15457.

Protocols and materials databases

DNASUi4438.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000263187; ENSP00000263187; ENSG00000057468.
GeneIDi4438.
KEGGihsa:4438.
UCSCiuc001dhd.3. human.

Organism-specific databases

CTDi4438.
GeneCardsiMSH4.
HGNCiHGNC:7327. MSH4.
HPAiHPA028117.
MIMi602105. gene.
neXtProtiNX_O15457.
PharmGKBiPA31135.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0220. Eukaryota.
COG0249. LUCA.
GeneTreeiENSGT00550000074897.
HOGENOMiHOG000290656.
HOVERGENiHBG036910.
InParanoidiO15457.
KOiK08740.
OMAiWTPQMGY.
OrthoDBiEOG7DRJ2N.
PhylomeDBiO15457.
TreeFamiTF300572.

Enzyme and pathway databases

ReactomeiR-HSA-912446. Meiotic recombination.

Miscellaneous databases

ChiTaRSiMSH4. human.
GeneWikiiMSH4.
GenomeRNAii4438.
PROiO15457.
SOURCEiSearch...

Gene expression databases

BgeeiO15457.
CleanExiHS_MSH4.
GenevisibleiO15457. HS.

Family and domain databases

Gene3Di3.30.420.110. 1 hit.
3.40.50.300. 1 hit.
InterProiIPR000432. DNA_mismatch_repair_MutS_C.
IPR007861. DNA_mismatch_repair_MutS_clamp.
IPR007696. DNA_mismatch_repair_MutS_core.
IPR007860. DNA_mmatch_repair_MutS_con_dom.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamiPF05188. MutS_II. 1 hit.
PF05192. MutS_III. 1 hit.
PF05190. MutS_IV. 1 hit.
PF00488. MutS_V. 1 hit.
[Graphical view]
SMARTiSM00534. MUTSac. 1 hit.
SM00533. MUTSd. 1 hit.
[Graphical view]
SUPFAMiSSF48334. SSF48334. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEiPS00486. DNA_MISMATCH_REPAIR_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and expression analysis of a meiosis-specific MutS homolog: the human MSH4 gene."
    Paquis-Flucklinger V., Santucci-Darmanin S., Paul R., Saunieres A., Turc-Carel C., Desnuelle C.
    Genomics 44:188-194(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. "hMSH4 cDNA sequence, a variant."
    Her C., Doggett N.
    Submitted (NOV-1998) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  3. NIEHS SNPs program
    Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS VAL-60; THR-90; THR-97; LYS-162; CYS-589 AND ASN-914.
  4. "The DNA sequence and biological annotation of human chromosome 1."
    Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
    , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
    Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Testis.
  7. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiMSH4_HUMAN
AccessioniPrimary (citable) accession number: O15457
Secondary accession number(s): Q5T4U6, Q8NEB3, Q9UNP8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: April 30, 2003
Last modified: July 6, 2016
This is version 134 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.