UniProtKB - O15457 (MSH4_HUMAN)
Protein
MutS protein homolog 4
Gene
MSH4
Organism
Homo sapiens (Human)
Status
Functioni
Involved in meiotic recombination. Required for reciprocal recombination and proper segregation of homologous chromosomes at meiosis.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 680 – 687 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- DNA binding Source: ProtInc
- DNA-dependent ATPase activity Source: GO_Central
- mismatched DNA binding Source: InterPro
GO - Biological processi
- female gamete generation Source: Ensembl
- homologous chromosome pairing at meiosis Source: Ensembl
- meiotic mismatch repair Source: GO_Central
- ovarian follicle development Source: Ensembl
- reciprocal meiotic recombination Source: ProtInc
- resolution of meiotic recombination intermediates Source: GO_Central
- spermatogenesis Source: Ensembl
Keywordsi
Molecular function | DNA-binding |
Biological process | Meiosis |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | O15457 |
Reactomei | R-HSA-912446, Meiotic recombination |
Names & Taxonomyi
Protein namesi | Recommended name: MutS protein homolog 4Short name: hMSH4 |
Gene namesi | Name:MSH4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7327, MSH4 |
MIMi | 602105, gene |
neXtProti | NX_O15457 |
VEuPathDBi | HostDB:ENSG00000057468.6 |
Subcellular locationi
Other locations
- Chromosome By similarity
Nucleus
- nucleus Source: ProtInc
- recombination nodule Source: Ensembl
- synaptonemal complex Source: GO_Central
Other locations
- chromosome Source: UniProtKB
Keywords - Cellular componenti
ChromosomePathology & Biotechi
Organism-specific databases
DisGeNETi | 4438 |
OpenTargetsi | ENSG00000057468 |
PharmGKBi | PA31135 |
Miscellaneous databases
Pharosi | O15457, Tbio |
Genetic variation databases
BioMutai | MSH4 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000115197 | 1 – 936 | MutS protein homolog 4Add BLAST | 936 |
Proteomic databases
EPDi | O15457 |
jPOSTi | O15457 |
PaxDbi | O15457 |
PeptideAtlasi | O15457 |
PRIDEi | O15457 |
ProteomicsDBi | 48679 |
PTM databases
iPTMneti | O15457 |
PhosphoSitePlusi | O15457 |
Expressioni
Tissue specificityi
Testis and ovary specific.
Gene expression databases
Bgeei | ENSG00000057468, Expressed in testis and 91 other tissues |
Genevisiblei | O15457, HS |
Organism-specific databases
HPAi | ENSG00000057468, Tissue enriched (testis) |
Interactioni
Subunit structurei
Heterooligomer of MSH4 and MSH5.
Binary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 110575, 12 interactors |
CORUMi | O15457 |
IntActi | O15457, 3 interactors |
MINTi | O15457 |
STRINGi | 9606.ENSP00000263187 |
Miscellaneous databases
RNActi | O15457, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the DNA mismatch repair MutS family.Curated
Phylogenomic databases
eggNOGi | KOG0220, Eukaryota |
GeneTreei | ENSGT00550000074897 |
HOGENOMi | CLU_002472_7_2_1 |
InParanoidi | O15457 |
OMAi | CQICDSQ |
OrthoDBi | 138168at2759 |
PhylomeDBi | O15457 |
TreeFami | TF300572 |
Family and domain databases
Gene3Di | 3.30.420.110, 1 hit |
InterProi | View protein in InterPro 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 |
Pfami | View protein in Pfam PF05188, MutS_II, 1 hit PF05192, MutS_III, 1 hit PF05190, MutS_IV, 1 hit PF00488, MutS_V, 1 hit |
SMARTi | View protein in SMART SM00534, MUTSac, 1 hit SM00533, MUTSd, 1 hit |
SUPFAMi | SSF48334, SSF48334, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00486, DNA_MISMATCH_REPAIR_2, 1 hit |
i Sequence
Sequence statusi: Complete.
O15457-1 [UniParc]FASTAAdd to basket
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 19 – 20 | SS → VV in AAB72039 (PubMed:9299235).Curated | 2 | |
Sequence conflicti | 365 | I → V in AAH33030 (PubMed:15489334).Curated | 1 | |
Sequence conflicti | 407 | K → E in AAB72039 (PubMed:9299235).Curated | 1 | |
Sequence conflicti | 531 | F → L in AAB72039 (PubMed:9299235).Curated | 1 | |
Sequence conflicti | 534 | A → V in AAB72039 (PubMed:9299235).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_018831 | 60 | A → V1 PublicationCorresponds to variant dbSNP:rs5745311Ensembl. | 1 | |
Natural variantiVAR_018832 | 90 | A → T1 PublicationCorresponds to variant dbSNP:rs5745324Ensembl. | 1 | |
Natural variantiVAR_018833 | 97 | A → T1 PublicationCorresponds to variant dbSNP:rs5745325Ensembl. | 1 | |
Natural variantiVAR_018834 | 162 | E → K1 PublicationCorresponds to variant dbSNP:rs5745329Ensembl. | 1 | |
Natural variantiVAR_018835 | 589 | Y → C1 PublicationCorresponds to variant dbSNP:rs5745459Ensembl. | 1 | |
Natural variantiVAR_018836 | 914 | S → 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 |
CCDSi | CCDS670.1 |
RefSeqi | NP_002431.2, NM_002440.3 |
Genome annotation databases
Ensembli | ENST00000263187; ENSP00000263187; ENSG00000057468 |
GeneIDi | 4438 |
KEGGi | hsa:4438 |
UCSCi | uc001dhd.3, human |
Similar proteinsi
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 Genomic DNA No translation available. AL445464 Genomic DNA No translation available. CH471059 Genomic DNA Translation: EAX06392.1 BC033030 mRNA Translation: AAH33030.1 |
CCDSi | CCDS670.1 |
RefSeqi | NP_002431.2, NM_002440.3 |
3D structure databases
SMRi | O15457 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110575, 12 interactors |
CORUMi | O15457 |
IntActi | O15457, 3 interactors |
MINTi | O15457 |
STRINGi | 9606.ENSP00000263187 |
PTM databases
iPTMneti | O15457 |
PhosphoSitePlusi | O15457 |
Genetic variation databases
BioMutai | MSH4 |
Proteomic databases
EPDi | O15457 |
jPOSTi | O15457 |
PaxDbi | O15457 |
PeptideAtlasi | O15457 |
PRIDEi | O15457 |
ProteomicsDBi | 48679 |
Protocols and materials databases
Antibodypediai | 33475, 148 antibodies |
DNASUi | 4438 |
Genome annotation databases
Ensembli | ENST00000263187; ENSP00000263187; ENSG00000057468 |
GeneIDi | 4438 |
KEGGi | hsa:4438 |
UCSCi | uc001dhd.3, human |
Organism-specific databases
CTDi | 4438 |
DisGeNETi | 4438 |
GeneCardsi | MSH4 |
HGNCi | HGNC:7327, MSH4 |
HPAi | ENSG00000057468, Tissue enriched (testis) |
MIMi | 602105, gene |
neXtProti | NX_O15457 |
OpenTargetsi | ENSG00000057468 |
PharmGKBi | PA31135 |
VEuPathDBi | HostDB:ENSG00000057468.6 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0220, Eukaryota |
GeneTreei | ENSGT00550000074897 |
HOGENOMi | CLU_002472_7_2_1 |
InParanoidi | O15457 |
OMAi | CQICDSQ |
OrthoDBi | 138168at2759 |
PhylomeDBi | O15457 |
TreeFami | TF300572 |
Enzyme and pathway databases
PathwayCommonsi | O15457 |
Reactomei | R-HSA-912446, Meiotic recombination |
Miscellaneous databases
BioGRID-ORCSi | 4438, 5 hits in 988 CRISPR screens |
ChiTaRSi | MSH4, human |
GeneWikii | MSH4 |
GenomeRNAii | 4438 |
Pharosi | O15457, Tbio |
PROi | PR:O15457 |
RNActi | O15457, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000057468, Expressed in testis and 91 other tissues |
Genevisiblei | O15457, HS |
Family and domain databases
Gene3Di | 3.30.420.110, 1 hit |
InterProi | View protein in InterPro 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 |
Pfami | View protein in Pfam PF05188, MutS_II, 1 hit PF05192, MutS_III, 1 hit PF05190, MutS_IV, 1 hit PF00488, MutS_V, 1 hit |
SMARTi | View protein in SMART SM00534, MUTSac, 1 hit SM00533, MUTSd, 1 hit |
SUPFAMi | SSF48334, SSF48334, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00486, DNA_MISMATCH_REPAIR_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | MSH4_HUMAN | |
Accessioni | O15457Primary (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: | April 7, 2021 | |
This is version 165 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families