ENSG00000132646


Homo sapiens

Features
Gene ID: ENSG00000132646
  
Biological name :PCNA
  
Synonyms : P12004 / PCNA / proliferating cell nuclear antigen
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: -1
Band: p12.3
Gene start: 5114953
Gene end: 5126626
  
Corresponding Affymetrix probe sets: 201202_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000368438
Ensembl peptide - ENSP00000368458
NCBI entrez gene - 5111     See in Manteia.
OMIM - 176740
RefSeq - NM_002592
RefSeq - NM_182649
RefSeq Peptide - NP_002583
RefSeq Peptide - NP_872590
swissprot - P12004
Ensembl - ENSG00000132646
  
Related genetic diseases (OMIM): 615919 - ?Ataxia-telangiectasia-like disorder 2, 615919
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
 pcnaENSDARG00000054155Danio rerio
 PCNAENSGALG00000029292Gallus gallus
 PcnaENSMUSG00000027342Mus musculus
 Pcna-ps2ENSMUSG00000067608Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR000730  Proliferating cell nuclear antigen, PCNA
 IPR022648  Proliferating cell nuclear antigen, PCNA, N-terminal
 IPR022649  Proliferating cell nuclear antigen, PCNA, C-terminal
 IPR022659  Proliferating cell nuclear antigen, PCNA, conserved site


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle TAS
 biological_processGO:0000723 telomere maintenance TAS
 biological_processGO:0006260 DNA replication IEA
 biological_processGO:0006266 DNA ligation TAS
 biological_processGO:0006272 leading strand elongation IBA
 biological_processGO:0006275 regulation of DNA replication IEA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006283 transcription-coupled nucleotide-excision repair TAS
 biological_processGO:0006296 nucleotide-excision repair, DNA incision, 5"-to lesion TAS
 biological_processGO:0006297 nucleotide-excision repair, DNA gap filling TAS
 biological_processGO:0006298 mismatch repair TAS
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest TAS
 biological_processGO:0006979 response to oxidative stress IEA
 biological_processGO:0007507 heart development IEA
 biological_processGO:0008283 cell proliferation TAS
 biological_processGO:0016567 protein ubiquitination TAS
 biological_processGO:0016925 protein sumoylation TAS
 biological_processGO:0019985 translesion synthesis IDA
 biological_processGO:0030855 epithelial cell differentiation IEP
 biological_processGO:0031297 replication fork processing ISS
 biological_processGO:0032077 positive regulation of deoxyribonuclease activity IDA
 biological_processGO:0032201 telomere maintenance via semi-conservative replication TAS
 biological_processGO:0032355 response to estradiol IEA
 biological_processGO:0033683 nucleotide-excision repair, DNA incision TAS
 biological_processGO:0033993 response to lipid IEA
 biological_processGO:0034644 cellular response to UV IEA
 biological_processGO:0042276 error-prone translesion synthesis TAS
 biological_processGO:0042769 DNA damage response, detection of DNA damage TAS
 biological_processGO:0044849 estrous cycle IEA
 biological_processGO:0045739 positive regulation of DNA repair IMP
 biological_processGO:0045740 positive regulation of DNA replication IMP
 biological_processGO:0046686 response to cadmium ion IEA
 biological_processGO:0070301 cellular response to hydrogen peroxide IEA
 biological_processGO:0070987 error-free translesion synthesis TAS
 biological_processGO:0071548 response to dexamethasone IEA
 biological_processGO:0097421 liver regeneration IEA
 biological_processGO:1902065 response to L-glutamate IEA
 biological_processGO:1902990 mitotic telomere maintenance via semi-conservative replication ISS
 cellular_componentGO:0000784 nuclear chromosome, telomeric region HDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005657 replication fork IDA
 cellular_componentGO:0005663 DNA replication factor C complex TAS
 cellular_componentGO:0005813 centrosome IDA
 cellular_componentGO:0016604 nuclear body IDA
 cellular_componentGO:0030894 replisome TAS
 cellular_componentGO:0043596 nuclear replication fork IDA
 cellular_componentGO:0043626 PCNA complex IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:0070557 PCNA-p21 complex IDA
 molecular_functionGO:0000701 purine-specific mismatch base pair DNA N-glycosylase activity IDA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003684 damaged DNA binding IDA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0019899 enzyme binding IPI
 molecular_functionGO:0030331 estrogen receptor binding IEA
 molecular_functionGO:0030337 DNA polymerase processivity factor activity IBA
 molecular_functionGO:0030971 receptor tyrosine kinase binding IPI
 molecular_functionGO:0032139 dinucleotide insertion or deletion binding IDA
 molecular_functionGO:0032405 MutLalpha complex binding IDA
 molecular_functionGO:0035035 histone acetyltransferase binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0070182 DNA polymerase binding IPI


Pathways (from Reactome)
Pathway description
Translesion synthesis by REV1
Recognition of DNA damage by PCNA-containing replication complex
Translesion Synthesis by POLH
Transcription of E2F targets under negative control by DREAM complex
Polymerase switching on the C-strand of the telomere
Processive synthesis on the C-strand of the telomere
Telomere C-strand (Lagging Strand) Synthesis
Removal of the Flap Intermediate from the C-strand
SUMOylation of DNA replication proteins
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
Activation of E2F1 target genes at G1/S
PCNA-Dependent Long Patch Base Excision Repair
Translesion synthesis by POLK
Translesion synthesis by POLI
Termination of translesion DNA synthesis
HDR through Homologous Recombination (HRR)
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest
Polymerase switching
Removal of the Flap Intermediate
Processive synthesis on the lagging strand
E3 ubiquitin ligases ubiquitinate target proteins


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000252 Microcephaly "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators]
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 HP:0000524 Conjunctival telangiectasia "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva." [HPO:curators]
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000992 Photosensitivity "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:curators]
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 HP:0001251 Ataxia "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [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:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001272 Cerebellar atrophy 
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 HP:0001371 Contractures 
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 HP:0001761 Pes cavus 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002180 Neurodegeneration 
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 HP:0002317 Unsteady gait 
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 HP:0003323 Muscle weakness, progressive 
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 HP:0003676 Progressive disorder 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000106399 RPA3 / P35244 / replication protein A3  / complex / reaction
 ENSG00000101751 POLI / Q9UNA4 / DNA polymerase iota  / complex / reaction
 ENSG00000106628 POLD2 / P49005 / DNA polymerase delta 2, accessory subunit  / reaction / complex
 ENSG00000100823 APEX1 / P27695 / apurinic/apyrimidinic endodeoxyribonuclease 1  / complex / reaction
 ENSG00000122008 POLK / Q9UBT6 / DNA polymerase kappa  / reaction / complex
 ENSG00000095002 MSH2 / P43246 / mutS homolog 2  / reaction / complex
 ENSG00000116062 MSH6 / P52701 / mutS homolog 6  / complex / reaction
 ENSG00000070010 UFD1 / Q92890 / ubiquitin recognition factor in ER associated degradation 1  / reaction / complex
 ENSG00000077514 POLD3 / Q15054 / DNA polymerase delta 3, accessory subunit  / reaction / complex
 ENSG00000005156 LIG3 / P49916 / DNA ligase 3  / reaction
 ENSG00000073050 XRCC1 / P18887 / X-ray repair cross complementing 1  / reaction
 ENSG00000135945 REV1 / Q9UBZ9 / REV1, DNA directed polymerase  / complex / reaction
 ENSG00000132383 RPA1 / P27694 / replication protein A1  / complex / reaction
 ENSG00000113318 MSH3 / P20585 / mutS homolog 3  / complex / reaction
 ENSG00000105486 LIG1 / P18858 / DNA ligase 1  / complex / reaction
 ENSG00000154914 USP43 / Q70EL4 / ubiquitin specific peptidase 43  / complex / reaction
 ENSG00000175482 POLD4 / Q9HCU8 / DNA polymerase delta 4, accessory subunit  / complex / reaction
 ENSG00000071794 HLTF / Q14527 / helicase like transcription factor  / complex / reaction
 ENSG00000114742 WDR48 / Q8TAF3 / WD repeat domain 48  / complex / reaction
 ENSG00000117748 RPA2 / P15927 / replication protein A2  / complex / reaction
 ENSG00000168496 FEN1 / P39748 / flap structure-specific endonuclease 1  / complex / reaction
 ENSG00000162607 USP1 / O94782 / ubiquitin specific peptidase 1  / complex / reaction
 ENSG00000182446 NPLOC4 / Q8TAT6 / NPL4 homolog, ubiquitin recognition factor  / reaction / complex
 ENSG00000177889 UBE2N / P61088 / ubiquitin conjugating enzyme E2 N  / complex / reaction
 ENSG00000138346 DNA2 / P51530 / DNA replication helicase/nuclease 2  / complex / reaction
 ENSG00000174371 EXO1 / Q9UQ84 / exonuclease 1  / reaction
 ENSG00000165280 VCP / P55072 / valosin containing protein  / complex / reaction
 ENSG00000170734 POLH / Q9Y253 / DNA polymerase eta  / complex / reaction
 ENSG00000116717 P24522 / GADD45A / growth arrest and DNA damage inducible alpha  / complex / reaction
 ENSG00000116030 SUMO1 / P63165 / small ubiquitin-like modifier 1  / complex / reaction
 ENSG00000100387 RBX1 / P62877 / ring-box 1  / complex / reaction
 ENSG00000076242 MLH1 / P40692 / mutL homolog 1  / complex / reaction
 ENSG00000062822 POLD1 / P28340 / DNA polymerase delta 1, catalytic subunit  / complex / reaction
 ENSG00000156587 O14933 / UBE2L6 / ubiquitin conjugating enzyme E2 L6  / complex / reaction
 ENSG00000116670 MAD2L2 / Q9UI95 / mitotic arrest deficient 2 like 2  / complex / reaction
 ENSG00000146414 SHPRH / Q149N8 / SNF2 histone linker PHD RING helicase  / complex / reaction
 ENSG00000103275 UBE2I / P63279 / ubiquitin conjugating enzyme E2 I  / reaction
 ENSG00000167986 DDB1 / Q16531 / damage specific DNA binding protein 1  / complex / reaction
 ENSG00000182179 UBA7 / P41226 / ubiquitin like modifier activating enzyme 7  / reaction
 ENSG00000101868 POLA1 / P09884 / DNA polymerase alpha 1, catalytic subunit  / complex / reaction
 ENSG00000014138 POLA2 / Q14181 / DNA polymerase alpha 2, accessory subunit  / reaction / complex
 ENSG00000122512 PMS2 / P54278 / PMS1 homolog 2, mismatch repair system component  / complex / reaction
 ENSG00000010072 SPRTN / Q9H040 / SprT-like N-terminal domain  / complex / reaction
 ENSG00000187608 ISG15 / P05161 / ISG15 ubiquitin-like modifier  / complex / reaction
 ENSG00000132646 PCNA / P12004 / proliferating cell nuclear antigen  / complex
 ENSG00000070950 RAD18 / Q9NS91 / RAD18, E3 ubiquitin protein ligase  / reaction / complex
 ENSG00000158290 CUL4B / Q13620 / cullin 4B  / complex / reaction
 ENSG00000070501 POLB / P06746 / DNA polymerase beta  / reaction
 ENSG00000198056 PRIM1 / P49642 / DNA primase subunit 1  / reaction / complex
 ENSG00000146143 PRIM2 / P49643 / DNA primase subunit 2  / reaction / complex
 ENSG00000009413 REV3L / O60673 / REV3 like, DNA directed polymerase zeta catalytic subunit  / complex / reaction
 ENSG00000139842 CUL4A / Q13619 / cullin 4A  / complex / reaction
 ENSG00000121060 Q14258 / TRIM25 / tripartite motif containing 25  / reaction / complex
 ENSG00000119048 UBE2B / P63146 / ubiquitin conjugating enzyme E2 B  / complex / reaction
 ENSG00000143476 DTL / Q9NZJ0 / denticleless E3 ubiquitin protein ligase homolog  / reaction / complex
 ENSG00000169139 Q15819 / UBE2V2 / ubiquitin conjugating enzyme E2 V2  / reaction / complex






 

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