ENSG00000064933


Homo sapiens

Features
Gene ID: ENSG00000064933
  
Biological name :PMS1
  
Synonyms : P54277 / PMS1 / PMS1 homolog 1, mismatch repair system component
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q32.2
Gene start: 189784085
Gene end: 189877629
  
Corresponding Affymetrix probe sets: 1554742_at (Human Genome U133 Plus 2.0 Array)   1554743_x_at (Human Genome U133 Plus 2.0 Array)   213677_s_at (Human Genome U133 Plus 2.0 Array)   228803_at (Human Genome U133 Plus 2.0 Array)   236609_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000406225
Ensembl peptide - ENSP00000404492
Ensembl peptide - ENSP00000406490
Ensembl peptide - ENSP00000491236
Ensembl peptide - ENSP00000485312
Ensembl peptide - ENSP00000480632
Ensembl peptide - ENSP00000413837
Ensembl peptide - ENSP00000411151
Ensembl peptide - ENSP00000410082
Ensembl peptide - ENSP00000343888
Ensembl peptide - ENSP00000363959
Ensembl peptide - ENSP00000386623
Ensembl peptide - ENSP00000387125
Ensembl peptide - ENSP00000387169
Ensembl peptide - ENSP00000389938
Ensembl peptide - ENSP00000391136
Ensembl peptide - ENSP00000396232
Ensembl peptide - ENSP00000398378
Ensembl peptide - ENSP00000401064
NCBI entrez gene - 5378     See in Manteia.
OMIM - 600258
RefSeq - XM_017004351
RefSeq - NM_000534
RefSeq - NM_001128143
RefSeq - NM_001128144
RefSeq - NM_001289408
RefSeq - NM_001289409
RefSeq - NM_001321044
RefSeq - NM_001321045
RefSeq - NM_001321046
RefSeq - NM_001321047
RefSeq - NM_001321048
RefSeq - NM_001321049
RefSeq - NM_001321051
RefSeq - XM_006712596
RefSeq - XM_011511356
RefSeq - XM_017004344
RefSeq - XM_017004345
RefSeq - XM_017004346
RefSeq - XM_017004347
RefSeq - XM_017004348
RefSeq - XM_017004349
RefSeq - XM_017004350
RefSeq Peptide - NP_001121615
RefSeq Peptide - NP_001276337
RefSeq Peptide - NP_001276338
RefSeq Peptide - NP_001307973
RefSeq Peptide - NP_001307974
RefSeq Peptide - NP_001307975
RefSeq Peptide - NP_001307976
RefSeq Peptide - NP_001307977
RefSeq Peptide - NP_001307978
RefSeq Peptide - NP_001307980
RefSeq Peptide - NP_000525
RefSeq Peptide - NP_001121616
swissprot - Q5FBZ4
swissprot - Q5FBZ7
swissprot - Q5FBZ9
swissprot - Q5XG96
swissprot - B7ZAA0
swissprot - P54277
swissprot - Q3BDU3
swissprot - E9PH88
swissprot - E9PC65
swissprot - E9PC40
swissprot - C9JKP0
swissprot - C9JF76
swissprot - C9J4L1
swissprot - F8W8L1
Ensembl - ENSG00000064933
  
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 pms1ENSDARG00000000476Danio rerio
 PMS1ENSGALG00000034011Gallus gallus
 Pms1ENSMUSG00000026098Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
PMS2 / P54278 / PMS1 homolog 2, mismatch repair system componentENSG0000012251220


Protein motifs (from Interpro)
Interpro ID Name
 IPR002099  DNA mismatch repair protein family, N-terminal
 IPR003594  Histidine kinase/HSP90-like ATPase
 IPR009071  High mobility group box domain
 IPR013507  DNA mismatch repair protein, S5 domain 2-like
 IPR014721  Ribosomal protein S5 domain 2-type fold, subgroup
 IPR014762  DNA mismatch repair, conserved site
 IPR020568  Ribosomal protein S5 domain 2-type fold
 IPR031263  PMS1 protein homologue 1
 IPR036890  Histidine kinase/HSP90-like ATPase superfamily
 IPR036910  High mobility group box domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006298 mismatch repair IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0042493 response to drug IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0032389 MutLalpha complex IBA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003697 single-stranded DNA binding IBA
 molecular_functionGO:0005524 ATP binding IEA
 molecular_functionGO:0016887 ATPase activity IBA
 molecular_functionGO:0030983 mismatched DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000716 Depression "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators]
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 HP:0000737 Irritability 
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 HP:0000738 Hallucinations 
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 HP:0000739 Anxiety 
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 HP:0001123 Visual field defects 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001252 Muscular hypotonia "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators]
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 HP:0001260 Dysarthria "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators]
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 HP:0001276 Hypertonia 
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 HP:0001288 Gait disturbance "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators]
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 HP:0001371 Contractures 
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 HP:0001402 Hepatocellular carcinoma 
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 HP:0001522 Death in infancy 
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 HP:0001824 Weight loss 
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 HP:0002017 Nausea and vomiting 
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 HP:0002019 Constipation 
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 HP:0002024 Malabsorption 
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 HP:0002027 Abdominal pain 
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 HP:0002076 Migraine 
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 HP:0002239 Gastrointestinal hemorrhage 
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 HP:0002354 Memory impairment 
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 HP:0002376 Developmental regression 
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 HP:0002516 Increased intracranial pressure 
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 HP:0002671 Basal cell carcinoma 
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 HP:0002893 Pituitary adenoma 
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 HP:0003003 Colon cancer 
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 HP:0003006 Neuroblastoma "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum." [HPO:curators]
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 HP:0003401 Paresthesia "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators]
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 HP:0004374 Hemiplegia/hemiparesis "Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength." [HPO:curators]
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 HP:0006725 Pancreatic adenocarcinoma 
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 HP:0007018 Attention deficit hyperactivity disorder "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators]
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 HP:0007256 Mild pyramidal signs 
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 HP:0010524 Agnosia "Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions." [HPO:curators]
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 HP:0010526 Dysgraphia "A writing disability in the absence of motor or sensory deficits of the upper extremities, resulting in an impairment in the ability to write regardless of the ability to read and not due to intellectual impairment." [HPO:curators]
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 HP:0010622 Neoplasia of the skeletal system "`Neoplasia` (HP:0002664) affecting the `skeleton` (FMA:23875)." [HPO:probinson]
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 HP:0010786 Urinary tract neoplasia 
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 HP:0012113 Abnormality of creatine metabolism "An anomaly of the concentration or homeostasis of `creatine` (CHEBI:16919). Creatine is a derivative of glycine having methyl and amidino groups attached to the nitrogen. Creatine is naturally produced from amino acids, primarily in liver and kidney, and acts as an energy source for cells, primarly for muscle cells." [HPO:probinson]
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 HP:0012174 Glioblastoma multiforme "A tumor arising from glia in the central nervous system with macroscopic regions of necrosis and hemorrhage. Microscopically, glioblastoma multiforme is characterized by regions of pseudopalisading necrosis, pleomorphic nuclei and cells, and microvascular proliferation." [HPO:probinson, pmid:10841526]
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 HP:0012378 Fatigue "A subjective feeling of tiredness characterized by a lack of energy and motivation." [HPO:probinson]
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 HP:0100031 Neoplasm of the thyroid gland "The presence of a `neoplasm` (MPATH:218) of the `thyroid gland` (FMA:9603)." [HPO:probinson]
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 HP:0100571 Cardiac diverticulum "A cardiac diverticulum is a rare congential malformation which is either fibrous or muscular." [HPO:sdoelken]
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 HP:0100576 Amaurosis fugax "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken]
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 HP:0100613 Death in early adulthood 
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 HP:0100615 Ovarian neoplasm "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson]
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 HP:0100660 Dyskinesis "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements." [HPO:sdoelken]
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 HP:0100743 Neoplasm of the rectum 
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 HP:0100835 Benign neoplasm of the central nervous system 
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 HP:0200008 Multiple intestinal polyps 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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