The new UniProt website is here!
Take me to UniProt BETA
UniProtKB - O43196 (MSH5_HUMAN)
Protein
MutS protein homolog 5
Gene
MSH5
Organism
Homo sapiens (Human)
Status
Functioni
Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity).
By similarityRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 592 – 599 | ATPSequence analysis | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- double-stranded DNA binding Source: GO_Central
- mismatched DNA binding Source: InterPro
GO - Biological processi
- chiasma assembly Source: GO_Central
- mismatch repair Source: InterPro
Keywordsi
Molecular function | DNA-binding |
Biological process | DNA damage, DNA repair, Meiosis |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | O43196 |
Reactomei | R-HSA-912446, Meiotic recombination |
SignaLinki | O43196 |
Names & Taxonomyi
Protein namesi | Recommended name: MutS protein homolog 5Short name: hMSH5 |
Gene namesi | Name:MSH5 |
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:7328, MSH5 |
MIMi | 603382, gene |
neXtProti | NX_O43196 |
VEuPathDBi | HostDB:ENSG00000204410 |
Pathology & Biotechi
Involvement in diseasei
Premature ovarian failure 13 (POF13)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078116 | 353 | L → M in POF13; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_078117 | 487 | D → Y in POF13; decreased function in DNA repair as suggested by the persistence of gamma-H2AX foci following cell treatment with etoposide. 1 PublicationCorresponds to variant dbSNP:rs1060505055EnsemblClinVar. | 1 | |
Natural variantiVAR_078118 | 703 | I → V in POF13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs752657544Ensembl. | 1 |
Keywords - Diseasei
Disease variant, Premature ovarian failureOrganism-specific databases
DisGeNETi | 4439 |
MalaCardsi | MSH5 |
MIMi | 617442, phenotype |
OpenTargetsi | ENSG00000204410 ENSG00000255152 |
Orphaneti | 619, NON RARE IN EUROPE: Primary ovarian failure |
PharmGKBi | PA31136 |
Miscellaneous databases
Pharosi | O43196, Tbio |
Genetic variation databases
BioMutai | MSH5 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000115202 | 1 – 834 | MutS protein homolog 5Add BLAST | 834 |
Proteomic databases
EPDi | O43196 |
jPOSTi | O43196 |
MassIVEi | O43196 |
MaxQBi | O43196 |
PaxDbi | O43196 |
PeptideAtlasi | O43196 |
PRIDEi | O43196 |
ProteomicsDBi | 48810 [O43196-1] 48811 [O43196-2] 48812 [O43196-3] 48813 [O43196-4] |
PTM databases
iPTMneti | O43196 |
PhosphoSitePlusi | O43196 |
Expressioni
Tissue specificityi
Widely expressed, with high levels in testis and ovary, including granulosa cells (PubMed:9740671, PubMed:28175301). Also expressed in fetal ovary and adrenal gland (PubMed:28175301).2 Publications
Gene expression databases
Bgeei | ENSG00000204410, Expressed in right testis and 113 other tissues |
ExpressionAtlasi | O43196, baseline and differential |
Genevisiblei | O43196, HS |
Organism-specific databases
HPAi | ENSG00000204410, Tissue enhanced (testis) |
Interactioni
Subunit structurei
Heterooligomer of MSH4 and MSH5.
Interacts with HJURP.
1 PublicationBinary interactionsi
O43196
With | #Exp. | IntAct |
---|---|---|
ABL1 [P00519] | 10 | EBI-6092730,EBI-375543 |
MSH4 [O15457] | 5 | EBI-6092730,EBI-6092777 |
Isoform 2 [O43196-2]
Isoform 4 [O43196-4]
Protein-protein interaction databases
BioGRIDi | 110576, 45 interactors |
CORUMi | O43196 |
IntActi | O43196, 18 interactors |
MINTi | O43196 |
STRINGi | 9606.ENSP00000364855 |
Miscellaneous databases
RNActi | O43196, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 1 – 44 | DisorderedSequence analysisAdd BLAST | 44 |
Sequence similaritiesi
Belongs to the DNA mismatch repair MutS family.Curated
Phylogenomic databases
eggNOGi | KOG0221, Eukaryota |
GeneTreei | ENSGT00550000074977 |
HOGENOMi | CLU_002472_8_0_1 |
InParanoidi | O43196 |
OMAi | VIEYTAH |
PhylomeDBi | O43196 |
TreeFami | TF314549 |
Family and domain databases
Gene3Di | 3.40.50.300, 1 hit |
InterProi | View protein in InterPro IPR011184, DNA_mismatch_repair_Msh2 IPR000432, DNA_mismatch_repair_MutS_C IPR007861, DNA_mismatch_repair_MutS_clamp IPR007696, DNA_mismatch_repair_MutS_core IPR036187, DNA_mismatch_repair_MutS_sf IPR045076, MutS_family IPR027417, P-loop_NTPase |
PANTHERi | PTHR11361, PTHR11361, 1 hit |
Pfami | View protein in Pfam PF05192, MutS_III, 1 hit PF05190, MutS_IV, 1 hit PF00488, MutS_V, 1 hit |
PIRSFi | PIRSF005813, MSH2, 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 |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 31 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: O43196-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MASLGANPRR TPQGPRPGAA SSGFPSPAPV PGPREAEEEE VEEEEELAEI
60 70 80 90 100
HLCVLWNSGY LGIAYYDTSD STIHFMPDAP DHESLKLLQR VLDEINPQSV
110 120 130 140 150
VTSAKQDENM TRFLGKLASQ EHREPKRPEI IFLPSVDFGL EISKQRLLSG
160 170 180 190 200
NYSFIPDAMT ATEKILFLSS IIPFDCLLTV RALGGLLKFL GRRRIGVELE
210 220 230 240 250
DYNVSVPILG FKKFMLTHLV NIDQDTYSVL QIFKSESHPS VYKVASGLKE
260 270 280 290 300
GLSLFGILNR CHCKWGEKLL RLWFTRPTHD LGELSSRLDV IQFFLLPQNL
310 320 330 340 350
DMAQMLHRLL GHIKNVPLIL KRMKLSHTKV SDWQVLYKTV YSALGLRDAC
360 370 380 390 400
RSLPQSIQLF RDIAQEFSDD LHHIASLIGK VVDFEGSLAE NRFTVLPNID
410 420 430 440 450
PEIDEKKRRL MGLPSFLTEV ARKELENLDS RIPSCSVIYI PLIGFLLSIP
460 470 480 490 500
RLPSMVEASD FEINGLDFMF LSEEKLHYRS ARTKELDALL GDLHCEIRDQ
510 520 530 540 550
ETLLMYQLQC QVLARAAVLT RVLDLASRLD VLLALASAAR DYGYSRPRYS
560 570 580 590 600
PQVLGVRIQN GRHPLMELCA RTFVPNSTEC GGDKGRVKVI TGPNSSGKSI
610 620 630 640 650
YLKQVGLITF MALVGSFVPA EEAEIGAVDA IFTRIHSCES ISLGLSTFMI
660 670 680 690 700
DLNQVAKAVN NATAQSLVLI DEFGKGTNTV DGLALLAAVL RHWLARGPTC
710 720 730 740 750
PHIFVATNFL SLVQLQLLPQ GPLVQYLTME TCEDGNDLVF FYQVCEGVAK
760 770 780 790 800
ASHASHTAAQ AGLPDKLVAR GKEVSDLIRS GKPIKPVKDL LKKNQMENCQ
810 820 830
TLVDKFMKLD LEDPNLDLNV FMSQEVLPAA TSIL
Computationally mapped potential isoform sequencesi
There are 31 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketA0A024RCV8 | A0A024RCV8_HUMAN | DNA mismatch repair protein | MSH5-SAPCD1 MSH5, hCG_2001570 | 851 | Annotation score: | ||
A2ABF0 | A2ABF0_HUMAN | MutS protein homolog 5 | MSH5 | 508 | Annotation score: | ||
A0A140T9P6 | A0A140T9P6_HUMAN | MutS protein homolog 5 | MSH5 | 401 | Annotation score: | ||
H7C2J4 | H7C2J4_HUMAN | MutS protein homolog 5 | MSH5 | 637 | Annotation score: | ||
A0A140T982 | A0A140T982_HUMAN | MutS protein homolog 5 | MSH5 | 745 | Annotation score: | ||
A0A0G2JJ70 | A0A0G2JJ70_HUMAN | MSH5-SAPCD1 readthrough (NMD candid... | MSH5-SAPCD1 MSH5 | 496 | Annotation score: | ||
A0A140T9J3 | A0A140T9J3_HUMAN | MutS protein homolog 5 | MSH5 | 728 | Annotation score: | ||
A0A0G2JK42 | A0A0G2JK42_HUMAN | MutS protein homolog 5 | MSH5 | 727 | Annotation score: | ||
A0A0G2JK88 | A0A0G2JK88_HUMAN | MutS protein homolog 5 | MSH5 | 821 | Annotation score: | ||
A2ABE9 | A2ABE9_HUMAN | MutS protein homolog 5 | MSH5 | 333 | Annotation score: | ||
There are more potential isoformsShow all |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 764 | P → L in AAC62533 (PubMed:9740671).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_025082 | 29 | P → S1 PublicationCorresponds to variant dbSNP:rs2075789EnsemblClinVar. | 1 | |
Natural variantiVAR_025083 | 85 | L → F1 PublicationCorresponds to variant dbSNP:rs28381349Ensembl. | 1 | |
Natural variantiVAR_025084 | 202 | Y → C1 PublicationCorresponds to variant dbSNP:rs28381358Ensembl. | 1 | |
Natural variantiVAR_025085 | 206 | V → F1 PublicationCorresponds to variant dbSNP:rs28381359Ensembl. | 1 | |
Natural variantiVAR_025086 | 351 | R → G1 PublicationCorresponds to variant dbSNP:rs28399976Ensembl. | 1 | |
Natural variantiVAR_078116 | 353 | L → M in POF13; unknown pathological significance. 1 Publication | 1 | |
Natural variantiVAR_025087 | 377 | L → F1 PublicationCorresponds to variant dbSNP:rs28399977Ensembl. | 1 | |
Natural variantiVAR_078117 | 487 | D → Y in POF13; decreased function in DNA repair as suggested by the persistence of gamma-H2AX foci following cell treatment with etoposide. 1 PublicationCorresponds to variant dbSNP:rs1060505055EnsemblClinVar. | 1 | |
Natural variantiVAR_078118 | 703 | I → V in POF13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs752657544Ensembl. | 1 | |
Natural variantiVAR_025088 | 786 | P → S1 PublicationCorresponds to variant dbSNP:rs1802127Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_017113 | 179 | T → TPPGDLRFTPIPLLIPSQ in isoform 3 and isoform 4. 1 Publication | 1 | |
Alternative sequenceiVSP_017114 | 654 | Q → QQ in isoform 2 and isoform 4. 2 Publications | 1 | |
Alternative sequenceiVSP_017115 | 745 – 774 | Missing in isoform 4. 1 PublicationAdd BLAST | 30 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF048986 mRNA Translation: AAC62533.1 AF048991 , AF048988, AF048989, AF048990 Genomic DNA Translation: AAC62534.1 AF034759 mRNA Translation: AAB87632.1 AF070071 mRNA Translation: AAC70066.1 AF070079 , AF070072, AF070073, AF070074, AF070075, AF070076, AF070077, AF070078 Genomic DNA Translation: AAC70067.1 BT007200 mRNA Translation: AAP35864.1 AY943816 Genomic DNA Translation: AAX20111.1 BA000025 Genomic DNA Translation: BAB63375.1 AF129756 Genomic DNA Translation: AAD18072.1 AF134726 Genomic DNA Translation: AAD21822.1 AL662834 Genomic DNA No translation available. AL662899 Genomic DNA No translation available. CR759787 Genomic DNA No translation available. CR925765 Genomic DNA No translation available. CR936239 Genomic DNA No translation available. CH471081 Genomic DNA Translation: EAX03512.1 CH471081 Genomic DNA Translation: EAX03514.1 BC001358 mRNA Translation: AAH01358.1 BC002498 mRNA Translation: AAH02498.1 BC041031 mRNA Translation: AAH41031.1 |
CCDSi | CCDS34409.2 [O43196-4] CCDS34410.1 [O43196-2] CCDS4720.1 [O43196-1] |
RefSeqi | NP_002432.1, NM_002441.4 [O43196-1] NP_079535.4, NM_025259.5 [O43196-4] NP_751897.1, NM_172165.3 [O43196-2] NP_751898.1, NM_172166.3 [O43196-1] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AF048986 mRNA Translation: AAC62533.1 AF048991 , AF048988, AF048989, AF048990 Genomic DNA Translation: AAC62534.1 AF034759 mRNA Translation: AAB87632.1 AF070071 mRNA Translation: AAC70066.1 AF070079 , AF070072, AF070073, AF070074, AF070075, AF070076, AF070077, AF070078 Genomic DNA Translation: AAC70067.1 BT007200 mRNA Translation: AAP35864.1 AY943816 Genomic DNA Translation: AAX20111.1 BA000025 Genomic DNA Translation: BAB63375.1 AF129756 Genomic DNA Translation: AAD18072.1 AF134726 Genomic DNA Translation: AAD21822.1 AL662834 Genomic DNA No translation available. AL662899 Genomic DNA No translation available. CR759787 Genomic DNA No translation available. CR925765 Genomic DNA No translation available. CR936239 Genomic DNA No translation available. CH471081 Genomic DNA Translation: EAX03512.1 CH471081 Genomic DNA Translation: EAX03514.1 BC001358 mRNA Translation: AAH01358.1 BC002498 mRNA Translation: AAH02498.1 BC041031 mRNA Translation: AAH41031.1 |
CCDSi | CCDS34409.2 [O43196-4] CCDS34410.1 [O43196-2] CCDS4720.1 [O43196-1] |
RefSeqi | NP_002432.1, NM_002441.4 [O43196-1] NP_079535.4, NM_025259.5 [O43196-4] NP_751897.1, NM_172165.3 [O43196-2] NP_751898.1, NM_172166.3 [O43196-1] |
3D structure databases
AlphaFoldDBi | O43196 |
SMRi | O43196 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 110576, 45 interactors |
CORUMi | O43196 |
IntActi | O43196, 18 interactors |
MINTi | O43196 |
STRINGi | 9606.ENSP00000364855 |
PTM databases
iPTMneti | O43196 |
PhosphoSitePlusi | O43196 |
Genetic variation databases
BioMutai | MSH5 |
Proteomic databases
EPDi | O43196 |
jPOSTi | O43196 |
MassIVEi | O43196 |
MaxQBi | O43196 |
PaxDbi | O43196 |
PeptideAtlasi | O43196 |
PRIDEi | O43196 |
ProteomicsDBi | 48810 [O43196-1] 48811 [O43196-2] 48812 [O43196-3] 48813 [O43196-4] |
Protocols and materials databases
Antibodypediai | 27625, 191 antibodies from 28 providers |
DNASUi | 4439 |
Genome annotation databases
Organism-specific databases
CTDi | 4439 |
DisGeNETi | 4439 |
GeneCardsi | MSH5 |
HGNCi | HGNC:7328, MSH5 |
HPAi | ENSG00000204410, Tissue enhanced (testis) |
MalaCardsi | MSH5 |
MIMi | 603382, gene 617442, phenotype |
neXtProti | NX_O43196 |
OpenTargetsi | ENSG00000204410 ENSG00000255152 |
Orphaneti | 619, NON RARE IN EUROPE: Primary ovarian failure |
PharmGKBi | PA31136 |
VEuPathDBi | HostDB:ENSG00000204410 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0221, Eukaryota |
GeneTreei | ENSGT00550000074977 |
HOGENOMi | CLU_002472_8_0_1 |
InParanoidi | O43196 |
OMAi | VIEYTAH |
PhylomeDBi | O43196 |
TreeFami | TF314549 |
Enzyme and pathway databases
PathwayCommonsi | O43196 |
Reactomei | R-HSA-912446, Meiotic recombination |
SignaLinki | O43196 |
Miscellaneous databases
BioGRID-ORCSi | 4439, 10 hits in 1075 CRISPR screens |
GeneWikii | MSH5 |
GenomeRNAii | 4439 |
Pharosi | O43196, Tbio |
PROi | PR:O43196 |
RNActi | O43196, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000204410, Expressed in right testis and 113 other tissues |
ExpressionAtlasi | O43196, baseline and differential |
Genevisiblei | O43196, HS |
Family and domain databases
Gene3Di | 3.40.50.300, 1 hit |
InterProi | View protein in InterPro IPR011184, DNA_mismatch_repair_Msh2 IPR000432, DNA_mismatch_repair_MutS_C IPR007861, DNA_mismatch_repair_MutS_clamp IPR007696, DNA_mismatch_repair_MutS_core IPR036187, DNA_mismatch_repair_MutS_sf IPR045076, MutS_family IPR027417, P-loop_NTPase |
PANTHERi | PTHR11361, PTHR11361, 1 hit |
Pfami | View protein in Pfam PF05192, MutS_III, 1 hit PF05190, MutS_IV, 1 hit PF00488, MutS_V, 1 hit |
PIRSFi | PIRSF005813, MSH2, 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 |
MobiDBi | Search... |
Entry informationi
Entry namei | MSH5_HUMAN | |
Accessioni | O43196Primary (citable) accession number: O43196 Secondary accession number(s): B0V033 Q9BQC7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 15, 1998 |
Last sequence update: | June 1, 1998 | |
Last modified: | May 25, 2022 | |
This is version 179 of the entry and version 1 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 6
Human chromosome 6: 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