Aliases for PMS1 Gene
Aliases for PMS1 Gene
- PMS1 Homolog 1, Mismatch Repair System Component 2 3 5
- DNA Mismatch Repair Protein PMS1 3 4
- PMSL1 3 4
- PMS1 Postmeiotic Segregation Increased 1 (S. Cerevisiae) 2
- Postmeiotic Segregation Increased (S. Cerevisiae) 1 2
- PMS1 Postmeiotic Segregation Increased 1 3
- Rhabdomyosarcoma Antigen MU-RMS-40.10B 3
- Rhabdomyosarcoma Antigen MU-RMS-40.10E 3
External Ids for PMS1 Gene
- HGNC: 9121
- Entrez Gene: 5378
- Ensembl: ENSG00000064933
- OMIM: 600258
- UniProtKB: P54277
Previous HGNC Symbols for PMS1 Gene
- PMSL1
Previous GeneCards Identifiers for PMS1 Gene
- GC02P188823
- GC02P189331
- GC02P190612
- GC02P190851
- GC02P190474
- GC02P190357
- GC02P190648
- GC02P182508
Summaries for PMS1 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 cause hereditary nonpolyposis colorectal cancer type 3 (HNPCC3) either alone or in combination with mutations in other genes involved in the HNPCC phenotype, which is also known as Lynch syndrome. [provided by RefSeq, Jul 2008]
GeneCards Summary for PMS1 Gene
PMS1 (PMS1 Homolog 1, Mismatch Repair System Component) is a Protein Coding gene. Diseases associated with PMS1 include Lynch Syndrome I and Lynch Syndrome. Among its related pathways are Mismatch repair. Gene Ontology (GO) annotations related to this gene include ATPase activity and mismatched DNA binding. An important paralog of this gene is PMS2.
UniProtKB/Swiss-Prot for PMS1 Gene
-
Probably involved in the repair of mismatches in DNA.
Additional gene information for PMS1 Gene
- Monarch Initiative
- Search for PMS1 at DataMed
- Search for PMS1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PMS1 Gene
Genomics for PMS1 Gene
GeneHancer (GH) Regulatory Elements for PMS1 Gene
Promoters and enhancers for PMS1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around PMS1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the PMS1 gene promoter:
-
- Ik-1
- GATA-1
- GATA-2
- GATA-3
- STAT1
- STAT1alpha
- STAT1beta
- STAT2
- STAT6
- STAT5B
Regulatory Element Products
Genomic Locations for PMS1 Gene
Genomic Locations for PMS1 Gene
- chr2:189,784,085-189,877,629
- (GRCh38/hg38)
- Size:
- 93,545 bases
- Orientation:
- Plus strand
- chr2:190,648,811-190,742,355
- (GRCh37/hg19)
- Size:
- 93,545 bases
- Orientation:
- Plus strand
Genomic View for PMS1 Gene
Genes around PMS1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 2q32.2 by Entrez Gene
- 2q32.2 by HGNC
- 2q32.2 by Ensembl
PMS1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PMS1 Gene
Proteins for PMS1 Gene
-
Protein details for PMS1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P54277-PMS1_HUMAN
- Recommended name:
- PMS1 protein homolog 1
- Protein Accession:
- P54277
- D3DPI1
- Q4VAL4
- Q5FBZ3
- Q5FBZ6
- Q5FBZ8
Protein attributes for PMS1 Gene
- Size:
- 932 amino acids
- Molecular mass:
- 105830 Da
- Quaternary structure:
-
- The MutL-beta complex is a heterodimer of PMS1 and MLH1.
Protein Expression for PMS1 Gene
Post-translational modifications for PMS1 Gene
Other Protein References for PMS1 Gene
- ENSEMBL proteins:
-
- ENSP00000389938
- ENSP00000406490
- ENSP00000406225
- ENSP00000411151
- ENSP00000387125
- ENSP00000480632
- ENSP00000410082
- ENSP00000398378
- ENSP00000387169
- ENSP00000386623
- ENSP00000491236
- ENSP00000413837
- ENSP00000401064
- ENSP00000485312
- ENSP00000404492
- ENSP00000391136
- ENSP00000343888
- ENSP00000396232
- ENSP00000363959
- REFSEQ proteins:
-
- XP_016859835.1
- NP_001276338.1
- XP_016859836.1
- XP_024308737.1
- NP_001121615.1
- XP_024308734.1
- NP_001307980.1
- NP_001121616.1
- NP_001307977.1
- XP_016859837.1
- XP_016859838.1
- XP_024308736.1
- NP_001307978.1
- NP_000525.1
- NP_001307976.1
- XP_024308733.1
- XP_011509658.1
- NP_001276337.1
- NP_001307975.1
- XP_016859839.1
- NP_001307973.1
- XP_016859833.1
- XP_016859834.1
- XP_024308735.1
- NP_001307974.1
- XP_024308732.1
- XP_006712659.1
Antibody Products
- Novus Biologicals Antibodies for PMS1
-
Abcam antibodies for PMS1
- Invitrogen Antibodies for PMS1 (AFLGC-PMS1)
- GeneTex PMS1 Antibody for PMS1
-
Santa Cruz Biotechnology (SCBT) Antibodies for PMS1
Protein Products
-
OriGene Purified Proteins for PMS1
- Search Origene for MassSpec and Protein Over-expression Lysates for PMS1
- Origene Custom Protein Services for PMS1
- antibodies-online: Search results for 3 available PMS1 Proteins ranked by validation data
- Compare Top PMS1 Proteins
-
Quality Products:
- Search GeneTex for Proteins for PMS1
-
Abcam proteins for PMS1
Assay Products
- antibodies-online: Search results for available PMS1 related products ranked by validation data
No data available for DME Specific Peptides for PMS1 Gene
Domains & Families for PMS1 Gene
Gene Families for PMS1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Predicted intracellular proteins
Protein Domains for PMS1 Gene
Suggested Antigen Peptide Sequences for PMS1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P54277- Family:
-
- Belongs to the DNA mismatch repair MutL/HexB family.
Function for PMS1 Gene
Molecular function for PMS1 Gene
- UniProtKB/Swiss-Prot Function:
- Probably involved in the repair of mismatches in DNA.
- GENATLAS Biochemistry:
- postmeiotic segregation increased (S cerevisiae) 1, yeast mutator gene homolog (bacterial mutL) heterodimerizing with MLH1,involved in mismatch repair
Phenotypes From GWAS Catalog for PMS1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | TAS | 8072530 |
| GO:0003697 | single-stranded DNA binding | IBA | -- |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0016887 | ATPase activity | IBA | -- |
| GO:0030983 | mismatched DNA binding | IEA | -- |
Phenotypes for PMS1 Gene
- MGI mutant phenotypes for PMS1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PMS1:
Animal Models for PMS1 Gene
- MGI Knock Outs for PMS1:
-
- Pms1 Pms1<tm1Lisk>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for PMS1
-
CRISPR Products
-
OriGene CRISPR knockouts for PMS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PMS1
- genomics-online: gRNA clones - Search results for 115 available PMS1 gene related products
- Overview of 115 available PMS1 gene related products
- Applied Biological Materials CRISPR for PMS1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PMS1
- GenScript: Design CRISPR guide RNA sequences for PMS1
miRNA for PMS1 Gene
- miRTarBase miRNAs that target PMS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PMS1
- Browse OriGene Inhibitory RNA Products For PMS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMS1
- genomics-online: shRNA clones - Search results for 115 available PMS1 gene related products
- Overview of 115 available PMS1 gene related products
Clone Products
-
OriGene ORF clones in human for PMS1
- RC217412
- RC217412L1
- RC217412L2
- RC217412L3
- RC217412L4
- RC226158
- RC226158L1
- RC226158L2
- RC226158L3
- RC226158L4
- RC226240
- RC226240L1
- RC226240L2
- RC226240L3
- RC226240L4
- RC239489
- RC239490
- RC517412
- RG217412
- RG226158
- RG226240
- RC217412L1V
- RC217412L2V
- RC217412L3V
- RC217412L4V
- RC226158L1V
- RC226158L2V
- RC226158L3V
- RC226158L4V
- RC226240L1V
- RC226240L2V
- RC226240L3V
- RC226240L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for PMS1 in any vector
- NM_000534.4
- XM_011511356.2
- XM_017004344.1
- XM_017004349.1
- NM_001321047.1
- XM_006712596.1
- NM_001321046.1
- NM_001321045.1
- XM_017004346.1
- XM_017004348.1
- XM_017004351.1
- NM_001289408.1
- NM_001321049.1
- NM_001289409.1
- NM_001128144.1
- XM_017004345.1
- XM_017004350.1
- NM_001128143.1
- NM_001321044.1
- NM_001321048.1
- NM_001321051.1
- XM_017004347.1
- Sino Biological Human cDNA Clone for PMS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PMS1
- Applied Biological Materials Clones for PMS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for PMS1
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PMS1 Gene
Localization for PMS1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PMS1 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytoskeleton | 2 |
| mitochondrion | 1 |
- Nuclear bodies (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS,IEA | 8072530 |
| GO:0032300 | mismatch repair complex | IBA | -- |
| GO:0032389 | MutLalpha complex | IBA | -- |
Pathways & Interactions for PMS1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Mismatch repair | ||
Pathways by source for PMS1 Gene
1 Qiagen pathway for PMS1 Gene
Interacting Proteins for PMS1 Gene
GPS-Prot Interaction Network for PMS1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006281 | DNA repair | IEA | -- |
| GO:0006298 | mismatch repair | IEA,IBA | -- |
| GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
| GO:0042493 | response to drug | IEA | -- |
No data available for SIGNOR curated interactions for PMS1 Gene
Transcripts for PMS1 Gene
mRNA/cDNA for PMS1 Gene
- (27) REFSEQ mRNAs :
- (22) Additional mRNA sequences :
- (179) Selected AceView cDNA sequences:
- (22) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000441310 3225 bps (uc002urh.5)
- ENST00000409985 1882 bps (uc061qps.1)
- ENST00000446877 560 bps (uc061qpt.1)
- ENST00000342075 3012 bps (uc061qpu.1)
- ENST00000409823 2795 bps (uc002urk.5)
Unigene Clusters for PMS1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PMS1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PMS1
- genomics-online: gRNA clones - Search results for 115 available PMS1 gene related products
- Overview of 115 available PMS1 gene related products
- Applied Biological Materials CRISPR for PMS1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PMS1
- GenScript: Design CRISPR guide RNA sequences for PMS1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PMS1
- Browse OriGene Inhibitory RNA Products For PMS1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PMS1
- genomics-online: shRNA clones - Search results for 115 available PMS1 gene related products
- Overview of 115 available PMS1 gene related products
Clone Products
-
OriGene ORF clones in human for PMS1
- RC217412
- RC217412L1
- RC217412L2
- RC217412L3
- RC217412L4
- RC226158
- RC226158L1
- RC226158L2
- RC226158L3
- RC226158L4
- RC226240
- RC226240L1
- RC226240L2
- RC226240L3
- RC226240L4
- RC239489
- RC239490
- RC517412
- RG217412
- RG226158
- RG226240
- RC217412L1V
- RC217412L2V
- RC217412L3V
- RC217412L4V
- RC226158L1V
- RC226158L2V
- RC226158L3V
- RC226158L4V
- RC226240L1V
- RC226240L2V
- RC226240L3V
- RC226240L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
-
GenScript: Next-day shipping of latest version cDNA ORF clones for PMS1 in any vector
- NM_000534.4
- XM_011511356.2
- XM_017004344.1
- XM_017004349.1
- NM_001321047.1
- XM_006712596.1
- NM_001321046.1
- NM_001321045.1
- XM_017004346.1
- XM_017004348.1
- XM_017004351.1
- NM_001289408.1
- NM_001321049.1
- NM_001289409.1
- NM_001128144.1
- XM_017004345.1
- XM_017004350.1
- NM_001128143.1
- NM_001321044.1
- NM_001321048.1
- NM_001321051.1
- XM_017004347.1
- Sino Biological Human cDNA Clone for PMS1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PMS1
- Applied Biological Materials Clones for PMS1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10a | · | 10b | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14a | · | 14b | ^ | 15 | ^ | 16a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP19: | - | - |
| ExUns: | 16b | ^ | 17a | · | 17b | · | 17c | ^ | 18a | · | 18b | ^ | 19a | · | 19b | · | 19c | · | 19d | ^ | 20a | · | 20b | · | 20c | · | 20d |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | |||||||||||||||||||||||
| SP2: | - | - | |||||||||||||||||||||||||
| SP3: | - | - | - | - | - | ||||||||||||||||||||||
| SP4: | - | - | |||||||||||||||||||||||||
| SP5: | - | - | - | - | - | ||||||||||||||||||||||
| SP6: | - | - | - | ||||||||||||||||||||||||
| SP7: | - | - | - | - | - | ||||||||||||||||||||||
| SP8: | |||||||||||||||||||||||||||
| SP9: | |||||||||||||||||||||||||||
| SP10: | |||||||||||||||||||||||||||
| SP11: | |||||||||||||||||||||||||||
| SP12: | |||||||||||||||||||||||||||
| SP13: | - | ||||||||||||||||||||||||||
| SP14: | - | - | |||||||||||||||||||||||||
| SP15: | |||||||||||||||||||||||||||
| SP16: | - | ||||||||||||||||||||||||||
| SP17: | - | - | |||||||||||||||||||||||||
| SP18: | |||||||||||||||||||||||||||
| SP19: | - | - | - | - | - | - |
Expression for PMS1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Testis (Reproductive System)
- XY Germ Cells Testis Cord
-
Gonad
- XY Germ Cells Testis Cord
This gene is overexpressed in Testis (57.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PMS1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of PMS1 Gene:
PMS1SOURCE GeneReport for Unigene cluster for PMS1 Gene:
Hs.111749Evidence on tissue expression from TISSUES for PMS1 Gene
- Gall bladder(4.2)
- Nervous system(3.7)
- Intestine(2.9)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PMS1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- nervous
- reproductive
- urinary
Regions:
Abdomen:
- biliary tract
- gallbladder
- intestine
- kidney
- large intestine
- liver
- pancreas
- small intestine
- stomach
Pelvis:
- anus
- ovary
- rectum
- uterus
General:
- blood
- red blood cell
Primer Products
-
OriGene qPCR primer pairs for PMS1
- genomics-online: primer clones - Search results for 115 available PMS1 gene related products
- Overview of 115 available PMS1 gene related products
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PMS1 Gene
Orthologs for PMS1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PMS1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | PMS1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | PMS1 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Pms1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pms1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | PMS1 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | PMS1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | PMS1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | PMS1 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | pms1 33 |
|
||
| Str.3995 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC52779 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pms1 34 33 33 |
|
OneToOne | |
| worm (Caenorhabditis elegans) |
Secernentea | pms-2 34 |
|
OneToOne | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PMS1 34 |
|
OneToMany |
- Species where no ortholog for PMS1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- fruit fly (Drosophila melanogaster)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for PMS1 Gene
- ENSEMBL:
- Gene Tree for PMS1 (if available)
- TreeFam:
- Gene Tree for PMS1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PMS1: view image
Paralogs for PMS1 Gene
(12) SIMAP similar genes for PMS1 Gene using alignment to 19 proteins:
- PMS1_HUMAN
- B7ZAA0_HUMAN
- C9J4L1_HUMAN
- C9JF76_HUMAN
- C9JKP0_HUMAN
- E9PC40_HUMAN
- E9PC65_HUMAN
- E9PH88_HUMAN
- F8W8L1_HUMAN
- I6L9H5_HUMAN
- Q3BDU3_HUMAN
- Q3BDU4_HUMAN
- Q5FBZ1_HUMAN
- Q5FBZ2_HUMAN
- Q5FBZ4_HUMAN
- Q5FBZ5_HUMAN
- Q5FBZ7_HUMAN
- Q5FBZ9_HUMAN
- Q5XG96_HUMAN
Variants for PMS1 Gene
| SNP ID | Clin | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1145231 | not-provided, likely-benign, not specified, Lynch syndrome | 189,854,453(+) | T/C | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs1145232 | not-provided, likely-benign, not specified, Lynch syndrome | 189,854,773(+) | G/A | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs1145234 | not-provided, likely-benign, not specified, Lynch syndrome | 189,867,833(+) | T/C/G | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs143323454 | uncertain-significance, Lynch syndrome | 189,795,810(+) | G/T | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, intron_variant, non_coding_transcript_variant, synonymous_variant | |
| rs147002700 | uncertain-significance, Lynch syndrome | 189,784,458(+) | G/A | 5_prime_UTR_variant, genic_upstream_transcript_variant, non_coding_transcript_variant, upstream_transcript_variant |
Residual Variation Intolerance Score:
81.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.09;
60.98% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PMS1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PMS1 Gene
Disorders for PMS1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| lynch syndrome i |
|
|
| lynch syndrome |
|
|
| cervical adenoma malignum |
|
|
| cervical mucinous adenocarcinoma |
|
|
| cecal benign neoplasm |
|
|
Search PMS1 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PMS1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for PMS1 Gene
Publications for PMS1 Gene
- Common germline variation in mismatch repair genes and survival after a diagnosis of colorectal cancer. (PMID: 19115210) Koessler T … Pharoah PD (International journal of cancer 2009) 3 22 44 58
- Common variants in mismatch repair genes and risk of invasive ovarian cancer. (PMID: 16774946) Song H … Gayther SA (Carcinogenesis 2006) 3 22 44 58
- Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer. (PMID: 10480359) Wang Q … Puisieux A (Human genetics 1999) 3 4 22 58
- Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. (PMID: 8072530) Nicolaides NC … Fraser CM (Nature 1994) 2 3 4 58
- The mismatch repair gene hPMS1 (human postmeiotic segregation1) is down regulated in oral squamous cell carcinoma. (PMID: 23608172) Wang Y … Gao Z (Gene 2013) 2 3 58
Products for PMS1 Gene
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- NM_000534.4
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- antibodies-online: Search results for 92 available PMS1 Antibodies ranked by validation data
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- Quality Products:
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Sources for PMS1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
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- (14) ProtoNet
- (15) Blocks
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- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
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- (86) RefSeq
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- (91) Illumina
- (92) COMPARTMENTS
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- (97) antibodies-online
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- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
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