PMS1 (PMS1 homolog 1, mismatch repair system component)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5378
Gene name Gene Name - the full gene name approved by the HGNC.
PMS1 homolog 1, mismatch repair system component
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PMS1
Synonyms (NCBI Gene) Gene synonyms aliases
HNPCC3, MLH2, PMSL1, hPMS1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q32.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
600258 9121 ENSG00000064933
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
ovarian cancer Ovarian cancer rs139414606 N/A
Show/Hide Unknown Diseases (4)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hereditary nonpolyposis colorectal cancer hereditary nonpolyposis colorectal carcinoma N/A N/A ClinVar
Lynch syndrome Lynch syndrome 1 N/A N/A ClinVar
Lynch Syndrome Lynch syndrome, lynch syndrome N/A N/A GenCC, ClinVar
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (29)
Associations from Text Mining Disease 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