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UniProtKB - O43196 (MSH5_HUMAN)

Protein

MutS protein homolog 5

Gene

MSH5

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

Functioni

Involved in DNA mismatch repair and meiotic recombination processes. Facilitates crossovers between homologs during meiosis (By similarity).By similarity

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi592 – 599ATPSequence analysis8

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDNA-binding
Biological processDNA damage, DNA repair, Meiosis
LigandATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiR-HSA-912446 Meiotic recombination

Names & Taxonomyi

Protein namesi
Recommended name:
MutS protein homolog 5
Short name:
hMSH5
Gene namesi
Name:MSH5
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000204410.14
HGNCiHGNC:7328 MSH5
MIMi603382 gene
neXtProtiNX_O43196

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

Involvement in diseasei

Premature ovarian failure 13 (POF13)1 Publication
The disease is caused by mutations 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.
See also OMIM:617442
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_078116353L → M in POF13; unknown pathological significance. 1 Publication1
Natural variantiVAR_078117487D → 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:rs1060505055Ensembl.1
Natural variantiVAR_078118703I → V in POF13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs752657544Ensembl.1

Keywords - Diseasei

Disease mutation, Premature ovarian failure

Organism-specific databases

DisGeNETi4439
MalaCardsiMSH5
MIMi617442 phenotype
OpenTargetsiENSG00000204410
ENSG00000255152
PharmGKBiPA31136

Polymorphism and mutation databases

BioMutaiMSH5

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001152021 – 834MutS protein homolog 5Add BLAST834

Proteomic databases

MaxQBiO43196
PaxDbiO43196
PeptideAtlasiO43196
PRIDEiO43196
ProteomicsDBi48810
48811 [O43196-2]
48812 [O43196-3]
48813 [O43196-4]

PTM databases

iPTMnetiO43196
PhosphoSitePlusiO43196

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

BgeeiENSG00000204410 Expressed in 87 organ(s), highest expression level in right testis
CleanExiHS_MSH5
ExpressionAtlasiO43196 baseline and differential
GenevisibleiO43196 HS

Organism-specific databases

HPAiHPA062688

Interactioni

Subunit structurei

Heterooligomer of MSH4 and MSH5. Interacts with HJURP.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi110576, 10 interactors
CORUMiO43196
IntActiO43196, 8 interactors
MINTiO43196
STRINGi9606.ENSP00000364855

Structurei

3D structure databases

ProteinModelPortaliO43196
SMRiO43196
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the DNA mismatch repair MutS family.Curated

Phylogenomic databases

eggNOGiKOG0221 Eukaryota
COG0249 LUCA
GeneTreeiENSGT00550000074977
HOVERGENiHBG001449
InParanoidiO43196
KOiK08741
OMAiNDLVFFY
PhylomeDBiO43196
TreeFamiTF314549

Family and domain databases

InterProiView 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
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF05192 MutS_III, 1 hit
PF05190 MutS_IV, 1 hit
PF00488 MutS_V, 1 hit
PIRSFiPIRSF005813 MSH2, 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

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 30 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 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:834
Mass (Da):92,875
Last modified:June 1, 1998 - v1
Checksum:i89E747F5361870E2
GO
Isoform 2 (identifier: O43196-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     654-654: Q → QQ

Show »
Length:835
Mass (Da):93,004
Checksum:i242182205EEF15D2
GO
Isoform 3 (identifier: O43196-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     179-179: T → TPPGDLRFTPIPLLIPSQ

Note: No experimental confirmation available.
Show »
Length:851
Mass (Da):94,719
Checksum:i5B1AEE179D863E41
GO
Isoform 4 (identifier: O43196-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     179-179: T → TPPGDLRFTPIPLLIPSQ
     654-654: Q → QQ
     745-774: Missing.

Note: No experimental confirmation available.
Show »
Length:822
Mass (Da):91,862
Checksum:i1D4A762D52173D03
GO

Computationally mapped potential isoform sequencesi

There are 30 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A024RCV8A0A024RCV8_HUMAN
DNA mismatch repair protein
MSH5-SAPCD1 MSH5, hCG_2001570
851Annotation score:
A2ABF0A2ABF0_HUMAN
cDNA FLJ39914 fis, clone SPLEN20187...
MSH5
508Annotation score:
A2ABE9A2ABE9_HUMAN
MutS protein homolog 5
MSH5
333Annotation score:
A0A140T9P6A0A140T9P6_HUMAN
MutS protein homolog 5
MSH5
401Annotation score:
A0A0G2JJ70A0A0G2JJ70_HUMAN
MSH5-SAPCD1 readthrough (NMD candid...
MSH5-SAPCD1 MSH5
496Annotation score:
H7C2J4H7C2J4_HUMAN
MutS protein homolog 5
MSH5
637Annotation score:
H0YDS7H0YDS7_HUMAN
MutS protein homolog 5
MSH5
166Annotation score:
H0YF11H0YF11_HUMAN
MSH5-SAPCD1 readthrough (NMD candid...
MSH5-SAPCD1
264Annotation score:
A2ABF1A2ABF1_HUMAN
MutS protein homolog 5
MSH5
156Annotation score:
A0A140T982A0A140T982_HUMAN
MutS protein homolog 5
MSH5
745Annotation score:
There are more potential isoformsShow all

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti764P → L in AAC62533 (PubMed:9740671).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02508229P → S1 PublicationCorresponds to variant dbSNP:rs2075789EnsemblClinVar.1
Natural variantiVAR_02508385L → F1 PublicationCorresponds to variant dbSNP:rs28381349Ensembl.1
Natural variantiVAR_025084202Y → C1 PublicationCorresponds to variant dbSNP:rs28381358Ensembl.1
Natural variantiVAR_025085206V → F1 PublicationCorresponds to variant dbSNP:rs28381359Ensembl.1
Natural variantiVAR_025086351R → G1 PublicationCorresponds to variant dbSNP:rs28399976Ensembl.1
Natural variantiVAR_078116353L → M in POF13; unknown pathological significance. 1 Publication1
Natural variantiVAR_025087377L → F1 PublicationCorresponds to variant dbSNP:rs28399977Ensembl.1
Natural variantiVAR_078117487D → 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:rs1060505055Ensembl.1
Natural variantiVAR_078118703I → V in POF13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs752657544Ensembl.1
Natural variantiVAR_025088786P → S1 PublicationCorresponds to variant dbSNP:rs1802127Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017113179T → TPPGDLRFTPIPLLIPSQ in isoform 3 and isoform 4. 1 Publication1
Alternative sequenceiVSP_017114654Q → QQ in isoform 2 and isoform 4. 2 Publications1
Alternative sequenceiVSP_017115745 – 774Missing in isoform 4. 1 PublicationAdd BLAST30

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
CCDSiCCDS34409.2 [O43196-4]
CCDS34410.1 [O43196-2]
CCDS4720.1 [O43196-1]
RefSeqiNP_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]
UniGeneiHs.647011

Genome annotation databases

EnsembliENST00000375703; ENSP00000364855; ENSG00000204410 [O43196-2]
ENST00000375740; ENSP00000364892; ENSG00000204410 [O43196-4]
ENST00000375750; ENSP00000364903; ENSG00000204410 [O43196-1]
ENST00000375755; ENSP00000364908; ENSG00000204410 [O43196-1]
ENST00000412070; ENSP00000404892; ENSG00000230961
ENST00000416549; ENSP00000399721; ENSG00000235222 [O43196-1]
ENST00000419269; ENSP00000394649; ENSG00000235222 [O43196-2]
ENST00000420731; ENSP00000400187; ENSG00000230961
ENST00000427735; ENSP00000388037; ENSG00000230293 [O43196-1]
ENST00000435700; ENSP00000407047; ENSG00000230293 [O43196-2]
ENST00000436091; ENSP00000396509; ENSG00000230961
ENST00000436192; ENSP00000406868; ENSG00000227314 [O43196-2]
ENST00000441395; ENSP00000402659; ENSG00000227314 [O43196-1]
ENST00000441401; ENSP00000406269; ENSG00000227314 [O43196-1]
ENST00000448617; ENSP00000387609; ENSG00000227314 [O43196-4]
ENST00000456839; ENSP00000394017; ENSG00000235222 [O43196-1]
ENST00000457742; ENSP00000409181; ENSG00000230293 [O43196-1]
GeneIDi4439
KEGGihsa:4439
UCSCiuc003nwu.3 human [O43196-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS34409.2 [O43196-4]
CCDS34410.1 [O43196-2]
CCDS4720.1 [O43196-1]
RefSeqiNP_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]
UniGeneiHs.647011

3D structure databases

ProteinModelPortaliO43196
SMRiO43196
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110576, 10 interactors
CORUMiO43196
IntActiO43196, 8 interactors
MINTiO43196
STRINGi9606.ENSP00000364855

PTM databases

iPTMnetiO43196
PhosphoSitePlusiO43196

Polymorphism and mutation databases

BioMutaiMSH5

Proteomic databases

MaxQBiO43196
PaxDbiO43196
PeptideAtlasiO43196
PRIDEiO43196
ProteomicsDBi48810
48811 [O43196-2]
48812 [O43196-3]
48813 [O43196-4]

Protocols and materials databases

DNASUi4439
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000375703; ENSP00000364855; ENSG00000204410 [O43196-2]
ENST00000375740; ENSP00000364892; ENSG00000204410 [O43196-4]
ENST00000375750; ENSP00000364903; ENSG00000204410 [O43196-1]
ENST00000375755; ENSP00000364908; ENSG00000204410 [O43196-1]
ENST00000412070; ENSP00000404892; ENSG00000230961
ENST00000416549; ENSP00000399721; ENSG00000235222 [O43196-1]
ENST00000419269; ENSP00000394649; ENSG00000235222 [O43196-2]
ENST00000420731; ENSP00000400187; ENSG00000230961
ENST00000427735; ENSP00000388037; ENSG00000230293 [O43196-1]
ENST00000435700; ENSP00000407047; ENSG00000230293 [O43196-2]
ENST00000436091; ENSP00000396509; ENSG00000230961
ENST00000436192; ENSP00000406868; ENSG00000227314 [O43196-2]
ENST00000441395; ENSP00000402659; ENSG00000227314 [O43196-1]
ENST00000441401; ENSP00000406269; ENSG00000227314 [O43196-1]
ENST00000448617; ENSP00000387609; ENSG00000227314 [O43196-4]
ENST00000456839; ENSP00000394017; ENSG00000235222 [O43196-1]
ENST00000457742; ENSP00000409181; ENSG00000230293 [O43196-1]
GeneIDi4439
KEGGihsa:4439
UCSCiuc003nwu.3 human [O43196-1]

Organism-specific databases

CTDi4439
DisGeNETi4439
EuPathDBiHostDB:ENSG00000204410.14
GeneCardsiMSH5
H-InvDBiHIX0165917
HIX0166738
HIX0167237
HIX0167372
HGNCiHGNC:7328 MSH5
HPAiHPA062688
MalaCardsiMSH5
MIMi603382 gene
617442 phenotype
neXtProtiNX_O43196
OpenTargetsiENSG00000204410
ENSG00000255152
PharmGKBiPA31136
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0221 Eukaryota
COG0249 LUCA
GeneTreeiENSGT00550000074977
HOVERGENiHBG001449
InParanoidiO43196
KOiK08741
OMAiNDLVFFY
PhylomeDBiO43196
TreeFamiTF314549

Enzyme and pathway databases

ReactomeiR-HSA-912446 Meiotic recombination

Miscellaneous databases

ChiTaRSiMSH5 human
GeneWikiiMSH5
GenomeRNAii4439
PROiPR:O43196
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000204410 Expressed in 87 organ(s), highest expression level in right testis
CleanExiHS_MSH5
ExpressionAtlasiO43196 baseline and differential
GenevisibleiO43196 HS

Family and domain databases

InterProiView 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
IPR027417 P-loop_NTPase
PfamiView protein in Pfam
PF05192 MutS_III, 1 hit
PF05190 MutS_IV, 1 hit
PF00488 MutS_V, 1 hit
PIRSFiPIRSF005813 MSH2, 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
ProtoNetiSearch...

Entry informationi

Entry nameiMSH5_HUMAN
AccessioniPrimary (citable) accession number: O43196
Secondary accession number(s): B0V033
, B0V034, O60586, Q5BLU9, Q5SSR1, Q8IW44, Q9BQC7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: June 1, 1998
Last modified: September 12, 2018
This is version 158 of the entry and version 1 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 6
    Human chromosome 6: 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. SIMILARITY comments
    Index of protein domains and families
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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