PMS1 (PMS1 homolog 1, mismatch repair system component)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 5378
Gene name PMS1 homolog 1, mismatch repair system component
Gene symbol PMS1
Synonyms (NCBI Gene)
HNPCC3MLH2PMSL1hPMS1
Chromosome 2
Chromosome location 2q32.2
Summary This gene encodes a protein belonging to the DNA mismatch repair mutL/hexB family. This protein is thought to be involved in the repair of DNA mismatches, and it can form heterodimers with MLH1, a known DNA mismatch repair protein. Mutations in this gene
miRNA miRNA information provided by mirtarbase database.
2
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT000892 hsa-miR-15a-5p Microarray 18362358
MIRT000891 hsa-miR-16-5p Microarray 18362358
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (21)
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003677 Function DNA binding TAS 8072530
GO:0005515 Function Protein binding IPI 11292842, 25502805, 32296183, 33961781, 34591612
GO:0005524 Function ATP binding IEA
GO:0005634 Component Nucleus IDA 26300262
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
600258 9121 ENSG00000064933
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54277
Protein name PMS1 protein homolog 1 (DNA mismatch repair protein PMS1)
Protein function Probably involved in the repair of mismatches in DNA.
PDB 2CS1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02518 HATPase_c 17 → 151 Histidine kinase-, DNA gyrase B-, and HSP90-like ATPase Domain
PF01119 DNA_mis_repair 210 → 338 DNA mismatch repair protein, C-terminal domain Family
PF00505 HMG_box 571 → 638 HMG (high mobility group) box Domain
Sequence 
MKQLPAATVRLLSSSQIITSVVSVVKELIENSLDAGATSVDVKLENYGFDKIEVRDNGEG
IKAVDAPVMAMKYYTSKINSHEDLENLTTYGFRGEALGSICCIAEVLITTRTAADNFSTQ
YVLDGSGHILSQKPSHLGQGTTVTALRLFKNLPVRKQFYSTAKKCKDEIKKIQDLLMSFG
ILKPDLRIVFVHNKAVIWQKSRVSDHKMALMSVLGTAVMNNMESFQYHSEESQIYLSGFL
PKCDADHSFTSLSTPERSFIFINSRPVHQKDILKLIRHHYNLKCLKESTRLYPVFFLKID
VPTADVDVNLTPDKSQVLLQNKESVLIALENLMTTCYGPLPSTNSYENNKTDVSAADIVL
SKTAETDVLFNKVESSGKNYSNVDTSVIPFQNDMHNDESGKNTDDCLNHQISIGDFGYGH
CSSEISNIDKNTKNAFQDISMSNVSWENSQTEYSKTCFISSVKHTQSENGNKDHIDESGE
NEEEAGLENSSEISADEWSRGNILKNSVGENIEPVKILVPEKSLPCKVSNNNYPIPEQMN
LNEDSCNKKSNVIDNKSGKVTAYDLLSNRVIKKPMSASALFVQDHRPQFLIENPKTSLED
ATLQIEELWKTLSEEEKLKYEEKATKDLERYNSQMKRAIEQESQMSLKDGRKKIKPTSAW
NLAQKHKLKTSLSNQPKLDELLQSQIEKRRSQNIKMVQIPFSMKNLKINFKKQNKVDLEE
KDEPCLIHNLRFPDAWLMTSKTEVMLLNPYRVEEALLFKRLLENHKLPAEPLEKPIMLTE
SLFNGSHYLDVLYKMTADDQRYSGSTYLSDPRLTANGFKIKLIPGVSITENYLEIEGMAN
CLPFYGVADLKEILNAILNRNAKEVYECRPRKVISYLEGEAVRLSRQLPMYLSKEDIQDI
IYRMKHQFGNEIKECVHGRPFFHHLTYLPETT
Sequence length 932
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Colorectal cancer Pathogenic rs2057666079 RCV001293840
Ovarian cancer Likely pathogenic rs139414606, rs111254723 RCV003153397
RCV003154798
Show/Hide Unknown Diseases (15)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Uncertain significance rs200244068 RCV005911226
Colon adenocarcinoma - rs121434628 RCV006220034
Familial cancer of breast Benign; Likely benign rs143323454 RCV005896018
Hereditary breast ovarian cancer syndrome Likely benign; Uncertain significance rs2066459, rs151325573, rs1196147116 RCV000625760
RCV000625761
RCV001374540
Show/Hide Text Mining Associations (29)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 37658412
Adenoma Associate 16827152
Anemia Aplastic Associate 18537977
Breast Diseases Associate 34261476
Breast Neoplasms Associate 34261476, 37656691
Cap Myopathy Inhibit 23168703
Carcinoma Hepatocellular Associate 15918183
Colorectal Neoplasms Associate 10544224, 21034533, 31127692, 8805366
Colorectal Neoplasms Hereditary Nonpolyposis Associate 10712226, 15309712, 19164453, 26437257, 36833239, 7616541, 7726159, 8571956, 8613431, 8766523, 8880570, 8910404, 9234704, 9245993, 9311737
View all (1 more)
Dermatitis Associate 30590005