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Protein

MutS protein homolog 4

Gene

MSH4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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)DescriptionActionsGraphical viewLength
Nucleotide bindingi680 – 687ATPSequence analysis8

GO - Molecular functioni

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

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processMeiosis
LigandATP-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

EuPathDBiHostDB:ENSG00000057468.6
HGNCiHGNC:7327 MSH4
MIMi602105 gene
neXtProtiNX_O15457

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Organism-specific databases

DisGeNETi4438
OpenTargetsiENSG00000057468
PharmGKBiPA31135

Polymorphism and mutation databases

BioMutaiMSH4

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001151971 – 936MutS protein homolog 4Add BLAST936

Proteomic databases

EPDiO15457
PaxDbiO15457
PeptideAtlasiO15457
PRIDEiO15457
ProteomicsDBi48679

PTM databases

iPTMnetiO15457
PhosphoSitePlusiO15457

Expressioni

Tissue specificityi

Testis and ovary specific.

Gene expression databases

BgeeiENSG00000057468
CleanExiHS_MSH4
GenevisibleiO15457 HS

Interactioni

Subunit structurei

Heterooligomer of MSH4 and MSH5.

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi110575, 10 interactors
CORUMiO15457
IntActiO15457, 3 interactors
MINTiO15457
STRINGi9606.ENSP00000263187

Structurei

3D structure databases

ProteinModelPortaliO15457
SMRiO15457
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
OMAiMREMAFI
OrthoDBiEOG091G026W
PhylomeDBiO15457
TreeFamiTF300572

Family and domain databases

Gene3Di3.30.420.110, 1 hit
InterProiView protein in InterPro
IPR017261 DNA_mismatch_repair_MutS/MSH
IPR000432 DNA_mismatch_repair_MutS_C
IPR007861 DNA_mismatch_repair_MutS_clamp
IPR007696 DNA_mismatch_repair_MutS_core
IPR036187 DNA_mismatch_repair_MutS_sf
IPR007860 DNA_mmatch_repair_MutS_con_dom
IPR036678 MutS_con_dom_sf
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF05188 MutS_II, 1 hit
PF05192 MutS_III, 1 hit
PF05190 MutS_IV, 1 hit
PF00488 MutS_V, 1 hit
PIRSFiPIRSF037677 DNA_mis_repair_Msh6, 1 hit
SMARTiView protein in SMART
SM00534 MUTSac, 1 hit
SM00533 MUTSd, 1 hit
SUPFAMiSSF48334 SSF48334, 1 hit
SSF52540 SSF52540, 1 hit
PROSITEiView protein in PROSITE
PS00486 DNA_MISMATCH_REPAIR_2, 1 hit

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)DescriptionActionsGraphical viewLength
Sequence conflicti19 – 20SS → VV in AAB72039 (PubMed:9299235).Curated2
Sequence conflicti365I → V in AAH33030 (PubMed:15489334).Curated1
Sequence conflicti407K → E in AAB72039 (PubMed:9299235).Curated1
Sequence conflicti531F → L in AAB72039 (PubMed:9299235).Curated1
Sequence conflicti534A → V in AAB72039 (PubMed:9299235).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01883160A → V1 PublicationCorresponds to variant dbSNP:rs5745311Ensembl.1
Natural variantiVAR_01883290A → T1 PublicationCorresponds to variant dbSNP:rs5745324Ensembl.1
Natural variantiVAR_01883397A → T1 PublicationCorresponds to variant dbSNP:rs5745325Ensembl.1
Natural variantiVAR_018834162E → K1 PublicationCorresponds to variant dbSNP:rs5745329Ensembl.1
Natural variantiVAR_018835589Y → C1 PublicationCorresponds to variant dbSNP:rs5745459Ensembl.1
Natural variantiVAR_018836914S → N1 PublicationCorresponds to variant dbSNP:rs5745549Ensembl.1

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 Genomic DNA No translation available.
AL445464 Genomic DNA No translation available.
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

Similar proteinsi

Entry informationi

Entry nameiMSH4_HUMAN
AccessioniPrimary (citable) accession number: O15457
Secondary accession number(s): Q5T4U6, Q8NEB3, Q9UNP8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: April 30, 2003
Last modified: July 18, 2018
This is version 149 of the entry and version 2 of the sequence. See 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

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