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Protein

PMS1 protein homolog 1

Gene

PMS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Molecular functionDNA-binding
Biological processDNA damage, DNA repair

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000064933.16
HGNCiHGNC:9121 PMS1
MIMi600258 gene
neXtProtiNX_P54277

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

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Keywords - Diseasei

Hereditary nonpolyposis colorectal cancer, Tumor suppressor

Organism-specific databases

DisGeNETi5378
GeneReviewsiPMS1
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
HPA031013

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi111391, 64 interactors
CORUMiP54277
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

Phylogenomic databases

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

Family and domain databases

CDDicd00075 HATPase_c, 1 hit
Gene3Di1.10.30.10, 1 hit
3.30.230.10, 1 hit
3.30.565.10, 1 hit
InterProiView protein in InterPro
IPR014762 DNA_mismatch_repair_CS
IPR002099 DNA_mismatch_repair_N
IPR013507 DNA_mismatch_S5_2-like
IPR003594 HATPase_C
IPR036890 HATPase_C_sf
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
IPR038973 MutL/Mlh/Pms
IPR031263 PMS1_hom
IPR020568 Ribosomal_S5_D2-typ_fold
IPR014721 Ribosomal_S5_D2-typ_fold_subgr
PANTHERiPTHR10073 PTHR10073, 1 hit
PTHR10073:SF43 PTHR10073:SF43, 1 hit
PfamiView protein in Pfam
PF01119 DNA_mis_repair, 1 hit
PF00505 HMG_box, 1 hit
SMARTiView protein in SMART
SM01340 DNA_mis_repair, 1 hit
SM00398 HMG, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
SSF54211 SSF54211, 1 hit
SSF55874 SSF55874, 1 hit
TIGRFAMsiTIGR00585 mutl, 1 hit
PROSITEiView protein in PROSITE
PS00058 DNA_MISMATCH_REPAIR_1, 1 hit
PS50118 HMG_BOX_2, 1 hit

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 → Q1 PublicationCorresponds to variant dbSNP:rs5742973Ensembl.1
Natural variantiVAR_014877202R → K1 PublicationCorresponds to variant dbSNP:rs2066459EnsemblClinVar.1
Natural variantiVAR_012967394M → T1 PublicationCorresponds to variant dbSNP:rs1145231EnsemblClinVar.1
Natural variantiVAR_012968501G → R2 PublicationsCorresponds to variant dbSNP:rs1145232EnsemblClinVar.1
Natural variantiVAR_014878632N → S1 PublicationCorresponds to variant dbSNP:rs2066456EnsemblClinVar.1
Natural variantiVAR_014879720E → D1 PublicationCorresponds to variant dbSNP:rs2066455Ensembl.1
Natural variantiVAR_014880793Y → H1 PublicationCorresponds to variant dbSNP:rs1145234EnsemblClinVar.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

Similar proteinsi

Entry informationi

Entry nameiPMS1_HUMAN
AccessioniPrimary (citable) accession number: P54277
Secondary accession number(s): D3DPI1
, Q4VAL4, Q5FBZ3, Q5FBZ6, Q5FBZ8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: May 23, 2018
This is version 173 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

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

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