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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position and type of each DNA-binding domain present within the protein.<p><a href='/help/dna_bind' target='_top'>More...</a></p>DNA bindingi571 – 639HMG boxPROSITE-ProRule annotationAdd BLAST69

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • ATPase activity Source: GO_Central
  • ATP binding Source: InterPro
  • DNA binding Source: ProtInc
  • enzyme binding Source: UniProtKB
  • mismatched DNA binding Source: InterPro

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionDNA-binding
Biological processDNA damage, DNA repair

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

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SIGNORi
P54277

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
PMS1 protein homolog 1
Alternative name(s):
DNA mismatch repair protein PMS1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PMS1
Synonyms:PMSL1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 2

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000064933.16

Human Gene Nomenclature Database

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HGNCi
HGNC:9121 PMS1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600258 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P54277

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Hereditary nonpolyposis colorectal cancer, Tumor suppressor

Organism-specific databases

DisGeNET

More...
DisGeNETi
5378

MalaCards human disease database

More...
MalaCardsi
PMS1

Open Targets

More...
OpenTargetsi
ENSG00000064933

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
144 Lynch syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA33447

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
PMS1

Domain mapping of disease mutations (DMDM)

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DMDMi
1709683

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001780041 – 932PMS1 protein homolog 1Add BLAST932

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P54277

MaxQB - The MaxQuant DataBase

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MaxQBi
P54277

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P54277

PeptideAtlas

More...
PeptideAtlasi
P54277

PRoteomics IDEntifications database

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PRIDEi
P54277

ProteomicsDB human proteome resource

More...
ProteomicsDBi
56666
56667 [P54277-2]
56668 [P54277-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P54277

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P54277

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000064933 Expressed in 226 organ(s), highest expression level in sperm

CleanEx database of gene expression profiles

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CleanExi
HS_PMS1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P54277 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P54277 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB010233
HPA031013

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the DNA mismatch repair (MMR) complex composed at least of MSH2, MSH3, MSH6, PMS1 and MLH1 (PubMed:26300262). The MutL-beta complex is a heterodimer of PMS1 and MLH1 (PubMed:10748105). Interacts with MCM9 (PubMed:26300262).2 Publications

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111391, 65 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P54277

Protein interaction database and analysis system

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IntActi
P54277, 7 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000406490

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1932
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P54277

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P54277

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

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EvolutionaryTracei
P54277

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG1978 Eukaryota
COG0323 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000157085

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000039972

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG031886

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P54277

KEGG Orthology (KO)

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KOi
K10864

Identification of Orthologs from Complete Genome Data

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OMAi
QLTAYDL

Database of Orthologous Groups

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OrthoDBi
EOG091G01Z9

Database for complete collections of gene phylogenies

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PhylomeDBi
P54277

TreeFam database of animal gene trees

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TreeFami
TF300711

Family and domain databases

Conserved Domains Database

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CDDi
cd00075 HATPase_c, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.30.10, 1 hit
3.30.230.10, 1 hit
3.30.565.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View 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

The PANTHER Classification System

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PANTHERi
PTHR10073 PTHR10073, 1 hit
PTHR10073:SF43 PTHR10073:SF43, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF01119 DNA_mis_repair, 1 hit
PF00505 HMG_box, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01340 DNA_mis_repair, 1 hit
SM00398 HMG, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF47095 SSF47095, 1 hit
SSF54211 SSF54211, 1 hit
SSF55874 SSF55874, 1 hit

TIGRFAMs; a protein family database

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TIGRFAMsi
TIGR00585 mutl, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00058 DNA_MISMATCH_REPAIR_1, 1 hit
PS50118 HMG_BOX_2, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 13 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 13 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q3BDU3Q3BDU3_HUMAN
PMS1 protein homolog 1
PMS1
659Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
B7ZAA0B7ZAA0_HUMAN
PMS1 protein homolog 1
PMS1
756Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5FBZ9Q5FBZ9_HUMAN
PMS1 nirs variant 1
PMS1
667Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PC65E9PC65_HUMAN
PMS1 protein homolog 1
PMS1
711Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PH88E9PH88_HUMAN
PMS1 protein homolog 1
PMS1
266Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PC40E9PC40_HUMAN
PMS1 protein homolog 1
PMS1
181Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5FBZ4Q5FBZ4_HUMAN
PMS1 nirs variant 6
PMS1
248Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5XG96Q5XG96_HUMAN
PMS1 protein
PMS1
165Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JF76C9JF76_HUMAN
PMS1 protein homolog 1
PMS1
194Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8W8L1F8W8L1_HUMAN
PMS1 protein homolog 1
PMS1
108Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

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CCDSi
CCDS2302.1 [P54277-1]
CCDS46473.1 [P54277-2]
CCDS46474.1 [P54277-3]

Protein sequence database of the Protein Information Resource

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PIRi
S47597

NCBI Reference Sequences

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RefSeqi
NP_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]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.111749

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000409593; ENSP00000387169; ENSG00000064933 [P54277-4]
ENST00000409823; ENSP00000387125; ENSG00000064933 [P54277-3]
ENST00000441310; ENSP00000406490; ENSG00000064933 [P54277-1]
ENST00000447232; ENSP00000401064; ENSG00000064933 [P54277-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
5378

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5378

UCSC genome browser

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UCSCi
uc002urh.5 human [P54277-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2CS1NMR-A571-649[»]
ProteinModelPortaliP54277
SMRiP54277
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111391, 65 interactors
CORUMiP54277
IntActiP54277, 7 interactors
STRINGi9606.ENSP00000406490

PTM databases

iPTMnetiP54277
PhosphoSitePlusiP54277

Polymorphism and mutation databases

BioMutaiPMS1
DMDMi1709683

Proteomic databases

EPDiP54277
MaxQBiP54277
PaxDbiP54277
PeptideAtlasiP54277
PRIDEiP54277
ProteomicsDBi56666
56667 [P54277-2]
56668 [P54277-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
5378
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

Comparative Toxicogenomics Database

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CTDi
5378
DisGeNETi5378
EuPathDBiHostDB:ENSG00000064933.16

GeneCards: human genes, protein and diseases

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GeneCardsi
PMS1

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0029784
HGNCiHGNC:9121 PMS1
HPAiCAB010233
HPA031013
MalaCardsiPMS1
MIMi600258 gene
neXtProtiNX_P54277
OpenTargetsiENSG00000064933
Orphaneti144 Lynch syndrome
PharmGKBiPA33447

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1978 Eukaryota
COG0323 LUCA
GeneTreeiENSGT00940000157085
HOGENOMiHOG000039972
HOVERGENiHBG031886
InParanoidiP54277
KOiK10864
OMAiQLTAYDL
OrthoDBiEOG091G01Z9
PhylomeDBiP54277
TreeFamiTF300711

Enzyme and pathway databases

SIGNORiP54277

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
PMS1 human
EvolutionaryTraceiP54277

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
PMS1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
5378

Protein Ontology

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PROi
PR:P54277

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000064933 Expressed in 226 organ(s), highest expression level in sperm
CleanExiHS_PMS1
ExpressionAtlasiP54277 baseline and differential
GenevisibleiP54277 HS

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

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPMS1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P54277
Secondary accession number(s): D3DPI1
, Q4VAL4, Q5FBZ3, Q5FBZ6, Q5FBZ8
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: October 1, 1996
Last modified: December 5, 2018
This is version 178 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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