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Protein

PMS1 protein homolog 1

Gene

PMS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probably involved in the repair of mismatches in DNA.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi571 – 639HMG boxPROSITE-ProRule annotationAdd BLAST69

GO - Molecular functioni

  • ATPase activity Source: GO_Central
  • ATP binding Source: InterPro
  • DNA binding Source: ProtInc
  • mismatched DNA binding Source: InterPro
  • single-stranded DNA binding Source: GO_Central

GO - Biological processi

  • mismatch repair Source: ProtInc
  • response to drug Source: Ensembl
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:ENSG00000064933-MONOMER.
SIGNORiP54277.

Names & Taxonomyi

Protein namesi
Recommended name:
PMS1 protein homolog 1
Alternative name(s):
DNA mismatch repair protein PMS1
Gene namesi
Name:PMS1
Synonyms:PMSL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

HGNCiHGNC:9121. PMS1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

  • chiasma Source: GO_Central
  • MutLalpha complex Source: GO_Central
  • nucleus Source: ProtInc
  • synaptonemal complex Source: GO_Central
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Keywords - Diseasei

Hereditary nonpolyposis colorectal cancer, Tumor suppressor

Organism-specific databases

DisGeNETi5378.
MalaCardsiPMS1.
OpenTargetsiENSG00000064933.
Orphaneti144. Hereditary nonpolyposis colon cancer.
PharmGKBiPA33447.

Polymorphism and mutation databases

BioMutaiPMS1.
DMDMi1709683.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001780041 – 932PMS1 protein homolog 1Add BLAST932

Proteomic databases

EPDiP54277.
MaxQBiP54277.
PaxDbiP54277.
PeptideAtlasiP54277.
PRIDEiP54277.

PTM databases

iPTMnetiP54277.
PhosphoSitePlusiP54277.

Expressioni

Gene expression databases

BgeeiENSG00000064933.
CleanExiHS_PMS1.
ExpressionAtlasiP54277. baseline and differential.
GenevisibleiP54277. HS.

Organism-specific databases

HPAiCAB010233.

Interactioni

Subunit structurei

The MutL-beta complex is a heterodimer of PMS1 and MLH1.1 Publication

Protein-protein interaction databases

BioGridi111391. 63 interactors.
IntActiP54277. 7 interactors.
STRINGi9606.ENSP00000406490.

Structurei

Secondary structure

1932
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi577 – 592Combined sources16
Helixi598 – 610Combined sources13
Helixi614 – 625Combined sources12
Turni626 – 628Combined sources3
Helixi629 – 638Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CS1NMR-A571-649[»]
ProteinModelPortaliP54277.
SMRiP54277.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP54277.

Family & Domainsi

Sequence similaritiesi

Contains 1 HMG box DNA-binding domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG1978. Eukaryota.
COG0323. LUCA.
GeneTreeiENSGT00530000063289.
HOGENOMiHOG000039972.
HOVERGENiHBG031886.
InParanoidiP54277.
KOiK10864.
OMAiHKLPAEP.
OrthoDBiEOG091G01Z9.
PhylomeDBiP54277.
TreeFamiTF300711.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
3.30.230.10. 1 hit.
3.30.565.10. 1 hit.
InterProiIPR013507. DNA_mismatch_repair_C.
IPR014762. DNA_mismatch_repair_CS.
IPR002099. DNA_mismatch_repair_fam.
IPR003594. HATPase_C.
IPR009071. HMG_box_dom.
IPR020568. Ribosomal_S5_D2-typ_fold.
IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
[Graphical view]
PfamiPF01119. DNA_mis_repair. 1 hit.
PF00505. HMG_box. 1 hit.
[Graphical view]
SMARTiSM01340. DNA_mis_repair. 1 hit.
SM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
SSF54211. SSF54211. 1 hit.
SSF55874. SSF55874. 1 hit.
TIGRFAMsiTIGR00585. mutl. 1 hit.
PROSITEiPS00058. DNA_MISMATCH_REPAIR_1. 1 hit.
PS50118. HMG_BOX_2. 1 hit.
[Graphical view]

Sequences (4)i

Sequence statusi: Complete.

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

Isoform 1 (identifier: P54277-1) [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
MKQLPAATVR LLSSSQIITS VVSVVKELIE NSLDAGATSV DVKLENYGFD
60 70 80 90 100
KIEVRDNGEG IKAVDAPVMA MKYYTSKINS HEDLENLTTY GFRGEALGSI
110 120 130 140 150
CCIAEVLITT RTAADNFSTQ YVLDGSGHIL SQKPSHLGQG TTVTALRLFK
160 170 180 190 200
NLPVRKQFYS TAKKCKDEIK KIQDLLMSFG ILKPDLRIVF VHNKAVIWQK
210 220 230 240 250
SRVSDHKMAL MSVLGTAVMN NMESFQYHSE ESQIYLSGFL PKCDADHSFT
260 270 280 290 300
SLSTPERSFI FINSRPVHQK DILKLIRHHY NLKCLKESTR LYPVFFLKID
310 320 330 340 350
VPTADVDVNL TPDKSQVLLQ NKESVLIALE NLMTTCYGPL PSTNSYENNK
360 370 380 390 400
TDVSAADIVL SKTAETDVLF NKVESSGKNY SNVDTSVIPF QNDMHNDESG
410 420 430 440 450
KNTDDCLNHQ ISIGDFGYGH CSSEISNIDK NTKNAFQDIS MSNVSWENSQ
460 470 480 490 500
TEYSKTCFIS SVKHTQSENG NKDHIDESGE NEEEAGLENS SEISADEWSR
510 520 530 540 550
GNILKNSVGE NIEPVKILVP EKSLPCKVSN NNYPIPEQMN LNEDSCNKKS
560 570 580 590 600
NVIDNKSGKV TAYDLLSNRV IKKPMSASAL FVQDHRPQFL IENPKTSLED
610 620 630 640 650
ATLQIEELWK TLSEEEKLKY EEKATKDLER YNSQMKRAIE QESQMSLKDG
660 670 680 690 700
RKKIKPTSAW NLAQKHKLKT SLSNQPKLDE LLQSQIEKRR SQNIKMVQIP
710 720 730 740 750
FSMKNLKINF KKQNKVDLEE KDEPCLIHNL RFPDAWLMTS KTEVMLLNPY
760 770 780 790 800
RVEEALLFKR LLENHKLPAE PLEKPIMLTE SLFNGSHYLD VLYKMTADDQ
810 820 830 840 850
RYSGSTYLSD PRLTANGFKI KLIPGVSITE NYLEIEGMAN CLPFYGVADL
860 870 880 890 900
KEILNAILNR NAKEVYECRP RKVISYLEGE AVRLSRQLPM YLSKEDIQDI
910 920 930
IYRMKHQFGN EIKECVHGRP FFHHLTYLPE TT
Length:932
Mass (Da):105,830
Last modified:October 1, 1996 - v1
Checksum:iEC4F402937B616DF
GO
Isoform 2 (identifier: P54277-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     619-619: K → N
     620-781: Missing.

Note: No experimental confirmation available.
Show »
Length:770
Mass (Da):86,643
Checksum:i6C418989F9371A83
GO
Isoform 3 (identifier: P54277-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     195-233: Missing.

Show »
Length:893
Mass (Da):101,377
Checksum:iF017D1347739469E
GO
Isoform 4 (identifier: P54277-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-176: Missing.
     195-233: Missing.
     619-619: K → N
     620-781: Missing.

Show »
Length:555
Mass (Da):62,919
Checksum:i5FDD81AEB92618A6
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01916627E → Q.1 PublicationCorresponds to variant rs5742973dbSNPEnsembl.1
Natural variantiVAR_014877202R → K.1 PublicationCorresponds to variant rs2066459dbSNPEnsembl.1
Natural variantiVAR_012967394M → T.1 PublicationCorresponds to variant rs1145231dbSNPEnsembl.1
Natural variantiVAR_012968501G → R.2 PublicationsCorresponds to variant rs1145232dbSNPEnsembl.1
Natural variantiVAR_014878632N → S.1 PublicationCorresponds to variant rs2066456dbSNPEnsembl.1
Natural variantiVAR_014879720E → D.1 PublicationCorresponds to variant rs2066455dbSNPEnsembl.1
Natural variantiVAR_014880793Y → H.1 PublicationCorresponds to variant rs1145234dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0476921 – 176Missing in isoform 4. 1 PublicationAdd BLAST176
Alternative sequenceiVSP_043371195 – 233Missing in isoform 3 and isoform 4. 1 PublicationAdd BLAST39
Alternative sequenceiVSP_042676619K → N in isoform 2 and isoform 4. 1 Publication1
Alternative sequenceiVSP_042677620 – 781Missing in isoform 2 and isoform 4. 1 PublicationAdd BLAST162

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U13695 Genomic DNA. Translation: AAA63922.1.
AB102870 mRNA. Translation: BAD89399.1.
AB102872 mRNA. Translation: BAD89401.1.
AB102875 mRNA. Translation: BAD89404.1.
AY267352 Genomic DNA. Translation: AAO89079.1.
AC008122 Genomic DNA. No translation available.
AC013468 Genomic DNA. No translation available.
CH471058 Genomic DNA. Translation: EAX10883.1.
CH471058 Genomic DNA. Translation: EAX10885.1.
BC096330 mRNA. Translation: AAH96330.1.
BC096332 mRNA. Translation: AAH96332.1.
CCDSiCCDS2302.1. [P54277-1]
CCDS46473.1. [P54277-2]
CCDS46474.1. [P54277-3]
PIRiS47597.
RefSeqiNP_000525.1. NM_000534.4. [P54277-1]
NP_001121615.1. NM_001128143.1. [P54277-3]
NP_001121616.1. NM_001128144.1. [P54277-2]
NP_001276337.1. NM_001289408.1.
NP_001307974.1. NM_001321045.1. [P54277-1]
NP_001307975.1. NM_001321046.1.
NP_001307976.1. NM_001321047.1. [P54277-1]
NP_001307977.1. NM_001321048.1. [P54277-1]
XP_016859833.1. XM_017004344.1. [P54277-3]
XP_016859837.1. XM_017004348.1. [P54277-2]
UniGeneiHs.111749.

Genome annotation databases

EnsembliENST00000409593; ENSP00000387169; ENSG00000064933. [P54277-4]
ENST00000409823; ENSP00000387125; ENSG00000064933. [P54277-3]
ENST00000441310; ENSP00000406490; ENSG00000064933. [P54277-1]
ENST00000447232; ENSP00000401064; ENSG00000064933. [P54277-2]
GeneIDi5378.
KEGGihsa:5378.
UCSCiuc002urh.5. human. [P54277-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Hereditary non-polyposis colorectal cancer db
NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U13695 Genomic DNA. Translation: AAA63922.1.
AB102870 mRNA. Translation: BAD89399.1.
AB102872 mRNA. Translation: BAD89401.1.
AB102875 mRNA. Translation: BAD89404.1.
AY267352 Genomic DNA. Translation: AAO89079.1.
AC008122 Genomic DNA. No translation available.
AC013468 Genomic DNA. No translation available.
CH471058 Genomic DNA. Translation: EAX10883.1.
CH471058 Genomic DNA. Translation: EAX10885.1.
BC096330 mRNA. Translation: AAH96330.1.
BC096332 mRNA. Translation: AAH96332.1.
CCDSiCCDS2302.1. [P54277-1]
CCDS46473.1. [P54277-2]
CCDS46474.1. [P54277-3]
PIRiS47597.
RefSeqiNP_000525.1. NM_000534.4. [P54277-1]
NP_001121615.1. NM_001128143.1. [P54277-3]
NP_001121616.1. NM_001128144.1. [P54277-2]
NP_001276337.1. NM_001289408.1.
NP_001307974.1. NM_001321045.1. [P54277-1]
NP_001307975.1. NM_001321046.1.
NP_001307976.1. NM_001321047.1. [P54277-1]
NP_001307977.1. NM_001321048.1. [P54277-1]
XP_016859833.1. XM_017004344.1. [P54277-3]
XP_016859837.1. XM_017004348.1. [P54277-2]
UniGeneiHs.111749.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CS1NMR-A571-649[»]
ProteinModelPortaliP54277.
SMRiP54277.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111391. 63 interactors.
IntActiP54277. 7 interactors.
STRINGi9606.ENSP00000406490.

PTM databases

iPTMnetiP54277.
PhosphoSitePlusiP54277.

Polymorphism and mutation databases

BioMutaiPMS1.
DMDMi1709683.

Proteomic databases

EPDiP54277.
MaxQBiP54277.
PaxDbiP54277.
PeptideAtlasiP54277.
PRIDEiP54277.

Protocols and materials databases

DNASUi5378.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000409593; ENSP00000387169; ENSG00000064933. [P54277-4]
ENST00000409823; ENSP00000387125; ENSG00000064933. [P54277-3]
ENST00000441310; ENSP00000406490; ENSG00000064933. [P54277-1]
ENST00000447232; ENSP00000401064; ENSG00000064933. [P54277-2]
GeneIDi5378.
KEGGihsa:5378.
UCSCiuc002urh.5. human. [P54277-1]

Organism-specific databases

CTDi5378.
DisGeNETi5378.
GeneCardsiPMS1.
GeneReviewsiPMS1.
H-InvDBHIX0029784.
HGNCiHGNC:9121. PMS1.
HPAiCAB010233.
MalaCardsiPMS1.
MIMi600258. gene.
neXtProtiNX_P54277.
OpenTargetsiENSG00000064933.
Orphaneti144. Hereditary nonpolyposis colon cancer.
PharmGKBiPA33447.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1978. Eukaryota.
COG0323. LUCA.
GeneTreeiENSGT00530000063289.
HOGENOMiHOG000039972.
HOVERGENiHBG031886.
InParanoidiP54277.
KOiK10864.
OMAiHKLPAEP.
OrthoDBiEOG091G01Z9.
PhylomeDBiP54277.
TreeFamiTF300711.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000064933-MONOMER.
SIGNORiP54277.

Miscellaneous databases

ChiTaRSiPMS1. human.
EvolutionaryTraceiP54277.
GeneWikiiPMS1.
GenomeRNAii5378.
PROiP54277.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000064933.
CleanExiHS_PMS1.
ExpressionAtlasiP54277. baseline and differential.
GenevisibleiP54277. HS.

Family and domain databases

Gene3Di1.10.30.10. 1 hit.
3.30.230.10. 1 hit.
3.30.565.10. 1 hit.
InterProiIPR013507. DNA_mismatch_repair_C.
IPR014762. DNA_mismatch_repair_CS.
IPR002099. DNA_mismatch_repair_fam.
IPR003594. HATPase_C.
IPR009071. HMG_box_dom.
IPR020568. Ribosomal_S5_D2-typ_fold.
IPR014721. Ribosomal_S5_D2-typ_fold_subgr.
[Graphical view]
PfamiPF01119. DNA_mis_repair. 1 hit.
PF00505. HMG_box. 1 hit.
[Graphical view]
SMARTiSM01340. DNA_mis_repair. 1 hit.
SM00398. HMG. 1 hit.
[Graphical view]
SUPFAMiSSF47095. SSF47095. 1 hit.
SSF54211. SSF54211. 1 hit.
SSF55874. SSF55874. 1 hit.
TIGRFAMsiTIGR00585. mutl. 1 hit.
PROSITEiPS00058. DNA_MISMATCH_REPAIR_1. 1 hit.
PS50118. HMG_BOX_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiPMS1_HUMAN
AccessioniPrimary (citable) accession number: P54277
Secondary accession number(s): D3DPI1
, Q4VAL4, Q5FBZ3, Q5FBZ6, Q5FBZ8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: November 30, 2016
This is version 167 of the entry and version 1 of the sequence. [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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.