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O43196 (MSH5_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 116. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
MutS protein homolog 5

Short name=hMSH5
Gene names
Name:MSH5
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length834 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Involved in meiotic recombination. Facilitate crossovers between homologs during meiosis By similarity.

Subunit structure

Heterooligomer of MSH4 and MSH5. Interacts with HJURP. Ref.11

Tissue specificity

Ubiquitous, but highly expressed in testis, and thymus.

Sequence similarities

Belongs to the DNA mismatch repair MutS family.

Binary interactions

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O43196-1)

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.
Isoform 2 (identifier: O43196-2)

The sequence of this isoform differs from the canonical sequence as follows:
     654-654: Q → QQ
Isoform 3 (identifier: O43196-3)

The sequence of this isoform differs from the canonical sequence as follows:
     179-179: T → TPPGDLRFTPIPLLIPSQ
Note: No experimental confirmation available.
Isoform 4 (identifier: O43196-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 834834MutS protein homolog 5
PRO_0000115202

Regions

Nucleotide binding592 – 5998ATP Potential

Natural variations

Alternative sequence1791T → TPPGDLRFTPIPLLIPSQ in isoform 3 and isoform 4.
VSP_017113
Alternative sequence6541Q → QQ in isoform 2 and isoform 4.
VSP_017114
Alternative sequence745 – 77430Missing in isoform 4.
VSP_017115
Natural variant291P → S. Ref.5
Corresponds to variant rs2075789 [ dbSNP | Ensembl ].
VAR_025082
Natural variant851L → F. Ref.5
Corresponds to variant rs28381349 [ dbSNP | Ensembl ].
VAR_025083
Natural variant2021Y → C. Ref.5
Corresponds to variant rs28381358 [ dbSNP | Ensembl ].
VAR_025084
Natural variant2061V → F. Ref.5
Corresponds to variant rs28381359 [ dbSNP | Ensembl ].
VAR_025085
Natural variant3511R → G. Ref.5
Corresponds to variant rs28399976 [ dbSNP | Ensembl ].
VAR_025086
Natural variant3771L → F. Ref.5
Corresponds to variant rs28399977 [ dbSNP | Ensembl ].
VAR_025087
Natural variant7861P → S. Ref.5
Corresponds to variant rs1802127 [ dbSNP | Ensembl ].
VAR_025088

Experimental info

Sequence conflict7641P → L in AAC62533. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified June 1, 1998. Version 1.
Checksum: 89E747F5361870E2

FASTA83492,875
        10         20         30         40         50         60 
MASLGANPRR TPQGPRPGAA SSGFPSPAPV PGPREAEEEE VEEEEELAEI HLCVLWNSGY 

        70         80         90        100        110        120 
LGIAYYDTSD STIHFMPDAP DHESLKLLQR VLDEINPQSV VTSAKQDENM TRFLGKLASQ 

       130        140        150        160        170        180 
EHREPKRPEI IFLPSVDFGL EISKQRLLSG NYSFIPDAMT ATEKILFLSS IIPFDCLLTV 

       190        200        210        220        230        240 
RALGGLLKFL GRRRIGVELE DYNVSVPILG FKKFMLTHLV NIDQDTYSVL QIFKSESHPS 

       250        260        270        280        290        300 
VYKVASGLKE GLSLFGILNR CHCKWGEKLL RLWFTRPTHD LGELSSRLDV IQFFLLPQNL 

       310        320        330        340        350        360 
DMAQMLHRLL GHIKNVPLIL KRMKLSHTKV SDWQVLYKTV YSALGLRDAC RSLPQSIQLF 

       370        380        390        400        410        420 
RDIAQEFSDD LHHIASLIGK VVDFEGSLAE NRFTVLPNID PEIDEKKRRL MGLPSFLTEV 

       430        440        450        460        470        480 
ARKELENLDS RIPSCSVIYI PLIGFLLSIP RLPSMVEASD FEINGLDFMF LSEEKLHYRS 

       490        500        510        520        530        540 
ARTKELDALL GDLHCEIRDQ ETLLMYQLQC QVLARAAVLT RVLDLASRLD VLLALASAAR 

       550        560        570        580        590        600 
DYGYSRPRYS PQVLGVRIQN GRHPLMELCA RTFVPNSTEC GGDKGRVKVI TGPNSSGKSI 

       610        620        630        640        650        660 
YLKQVGLITF MALVGSFVPA EEAEIGAVDA IFTRIHSCES ISLGLSTFMI DLNQVAKAVN 

       670        680        690        700        710        720 
NATAQSLVLI DEFGKGTNTV DGLALLAAVL RHWLARGPTC PHIFVATNFL SLVQLQLLPQ 

       730        740        750        760        770        780 
GPLVQYLTME TCEDGNDLVF FYQVCEGVAK ASHASHTAAQ AGLPDKLVAR GKEVSDLIRS 

       790        800        810        820        830 
GKPIKPVKDL LKKNQMENCQ TLVDKFMKLD LEDPNLDLNV FMSQEVLPAA TSIL 

« Hide

Isoform 2 [UniParc].

Checksum: 242182205EEF15D2
Show »

FASTA83593,004
Isoform 3 [UniParc].

Checksum: 5B1AEE179D863E41
Show »

FASTA85194,719
Isoform 4 [UniParc].

Checksum: 1D4A762D52173D03
Show »

FASTA82291,862

References

« Hide 'large scale' references
[1]"Cloning, structural characterization, and chromosomal localization of the human orthologue of Saccharomyces cerevisiae MSH5 gene."
Her C., Doggett N.A.
Genomics 52:50-61(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
[2]"hMSH5: a human MutS homologue that forms a novel heterodimer with hMSH4 and is expressed during spermatogenesis."
Bocker T., Barusevicius A., Snowden T., Rasio D., Guerrette S., Robbins D., Schmidt C., Burczak J., Croce C.M., Copeland T., Kovatich A.J., Fishel R.
Cancer Res. 59:816-822(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[3]"Cloning and characterization of the human and Caenorhabditis elegans homologs of the Saccharomyces cerevisiae MSH5 gene."
Winand N.J., Panzer J.A., Kolodner R.D.
Genomics 53:69-80(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
[4]"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
[5]NIEHS SNPs program
Submitted (FEB-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-29; PHE-85; CYS-202; PHE-206; GLY-351; PHE-377 AND SER-786.
[6]"Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region."
Hirakawa M., Yamaguchi H., Imai K., Shimada J., Shiina S., Tamiya G., Oka A., Inoko H.
Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]"Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse."
Xie T., Rowen L., Aguado B., Ahearn M.E., Madan A., Qin S., Campbell R.D., Hood L.
Genome Res. 13:2621-2636(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]"The DNA sequence and analysis of human chromosome 6."
Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. expand/collapse author list , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4).
Tissue: Kidney and Skin.
[11]"Activation of Holliday junction recognizing protein involved in the chromosomal stability and immortality of cancer cells."
Kato T., Sato N., Hayama S., Yamabuki T., Ito T., Miyamoto M., Kondo S., Nakamura Y., Daigo Y.
Cancer Res. 67:8544-8553(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH HJURP.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF048986 mRNA. Translation: AAC62533.1.
AF048991 expand/collapse EMBL AC list , AF048988, AF048989, AF048990 Genomic DNA. Translation: AAC62534.1.
AF034759 mRNA. Translation: AAB87632.1.
AF070071 mRNA. Translation: AAC70066.1.
AF070079 expand/collapse EMBL AC list , 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. Translation: CAI17723.1.
AL662834 Genomic DNA. Translation: CAI17724.1.
AL662899 Genomic DNA. Translation: CAI18423.1.
AL662899 Genomic DNA. Translation: CAI18424.1.
CR936239, CR925765 Genomic DNA. Translation: CAQ08900.1.
CR936239, CR925765 Genomic DNA. Translation: CAQ08901.1.
CR759787 Genomic DNA. Translation: CAQ10116.1.
CR759787 Genomic DNA. Translation: CAQ10117.1.
CR925765, CR936239 Genomic DNA. Translation: CAQ10619.1.
CR925765, CR936239 Genomic DNA. Translation: CAQ10620.1.
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.
RefSeqNP_002432.1. NM_002441.4.
NP_079535.4. NM_025259.5.
NP_751897.1. NM_172165.3.
NP_751898.1. NM_172166.3.
UniGeneHs.647011.

3D structure databases

ProteinModelPortalO43196.
SMRO43196. Positions 2-802.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid110576. 4 interactions.
IntActO43196. 2 interactions.
MINTMINT-2999175.
STRING9606.ENSP00000364894.

PTM databases

PhosphoSiteO43196.

Proteomic databases

PaxDbO43196.
PRIDEO43196.

Protocols and materials databases

DNASU4439.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000375703; ENSP00000364855; ENSG00000204410. [O43196-2]
ENST00000375740; ENSP00000364892; ENSG00000204410. [O43196-4]
ENST00000375742; ENSP00000364894; ENSG00000204410. [O43196-3]
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]
ENST00000497157; ENSP00000464260; ENSG00000230293. [O43196-3]
ENST00000534153; ENSP00000431693; ENSG00000204410. [O43196-3]
ENST00000578225; ENSP00000463730; ENSG00000227314. [O43196-3]
GeneID4439.
KEGGhsa:4439.
UCSCuc003nwu.2. human. [O43196-2]
uc003nwv.2. human. [O43196-1]
uc003nwx.2. human. [O43196-4]

Organism-specific databases

CTD4439.
GeneCardsGC06P031707.
GC06Pj31696.
GC06Pk31690.
GC06Pm31785.
H-InvDBHIX0165917.
HIX0166738.
HIX0167237.
HIX0167372.
HGNCHGNC:7328. MSH5.
MIM603382. gene.
neXtProtNX_O43196.
PharmGKBPA31136.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG0249.
HOVERGENHBG001449.
KOK08741.
OMAATCPQIF.
PhylomeDBO43196.
TreeFamTF314549.

Enzyme and pathway databases

ReactomeREACT_111183. Meiosis.

Gene expression databases

BgeeO43196.
CleanExHS_MSH5.
GenevestigatorO43196.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR000432. DNA_mismatch_repair_MutS_C.
IPR007861. DNA_mismatch_repair_MutS_clamp.
IPR007696. DNA_mismatch_repair_MutS_core.
IPR027417. P-loop_NTPase.
[Graphical view]
PfamPF05192. MutS_III. 1 hit.
PF05190. MutS_IV. 1 hit.
PF00488. MutS_V. 1 hit.
[Graphical view]
SMARTSM00534. MUTSac. 1 hit.
SM00533. MUTSd. 1 hit.
[Graphical view]
SUPFAMSSF48334. SSF48334. 1 hit.
SSF52540. SSF52540. 1 hit.
PROSITEPS00486. DNA_MISMATCH_REPAIR_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSMSH5. human.
GeneWikiMSH5.
GenomeRNAi4439.
NextBio17301.
PROO43196.
SOURCESearch...

Entry information

Entry nameMSH5_HUMAN
AccessionPrimary (citable) accession number: O43196
Secondary accession number(s): B0V033 expand/collapse secondary AC list , B0V034, O60586, Q5BLU9, Q5SSR1, Q8IW44, Q9BQC7
Entry history
Integrated into UniProtKB/Swiss-Prot: December 15, 1998
Last sequence update: June 1, 1998
Last modified: April 16, 2014
This is version 116 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM