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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)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.

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.

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.
MINTiMINT-7002259.
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: November 22, 2017
This is version 146 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