ENSG00000062822


Homo sapiens

Features
Gene ID: ENSG00000062822
  
Biological name :POLD1
  
Synonyms : DNA polymerase delta 1, catalytic subunit / P28340 / POLD1
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: 1
Band: q13.33
Gene start: 50384204
Gene end: 50418016
  
Corresponding Affymetrix probe sets: 203422_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000495618
Ensembl peptide - ENSP00000481858
Ensembl peptide - ENSP00000496078
Ensembl peptide - ENSP00000406046
Ensembl peptide - ENSP00000469115
Ensembl peptide - ENSP00000469308
Ensembl peptide - ENSP00000470426
Ensembl peptide - ENSP00000470726
Ensembl peptide - ENSP00000472445
Ensembl peptide - ENSP00000472600
Ensembl peptide - ENSP00000472607
Ensembl peptide - ENSP00000473052
NCBI entrez gene - 5424     See in Manteia.
OMIM - 174761
RefSeq - XM_017026882
RefSeq - NM_001256849
RefSeq - NM_001308632
RefSeq - NM_002691
RefSeq - XM_005259008
RefSeq - XM_011527038
RefSeq - XM_017026881
RefSeq Peptide - NP_002682
RefSeq Peptide - NP_001243778
RefSeq Peptide - NP_001295561
swissprot - M0QXE6
swissprot - M0QXQ2
swissprot - M0QZB4
swissprot - M0QZR8
swissprot - M0R2B7
swissprot - M0R2J2
swissprot - M0R2I8
swissprot - P28340
swissprot - A0A024R4F4
Ensembl - ENSG00000062822
  
Related genetic diseases (OMIM): 612591 - {Colorectal cancer, susceptibility to, 10}, 612591
  615381 - Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381
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
 pold1ENSDARG00000027689Danio rerio
 Pold1ENSMUSG00000038644Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR006133  DNA-directed DNA polymerase, family B, exonuclease domain
 IPR006134  DNA-directed DNA polymerase, family B, multifunctional domain
 IPR006172  DNA-directed DNA polymerase, family B
 IPR012337  Ribonuclease H-like superfamily
 IPR017964  DNA-directed DNA polymerase, family B, conserved site
 IPR023211  DNA polymerase, palm domain superfamily
 IPR025687  C4-type zinc-finger of DNA polymerase delta
 IPR036397  Ribonuclease H superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000723 telomere maintenance TAS
 biological_processGO:0000731 DNA synthesis involved in DNA repair IMP
 biological_processGO:0006260 DNA replication TAS
 biological_processGO:0006266 DNA ligation TAS
 biological_processGO:0006281 DNA repair TAS
 biological_processGO:0006283 transcription-coupled nucleotide-excision repair TAS
 biological_processGO:0006287 base-excision repair, gap-filling IDA
 biological_processGO:0006296 nucleotide-excision repair, DNA incision, 5"-to lesion TAS
 biological_processGO:0006297 nucleotide-excision repair, DNA gap filling IMP
 biological_processGO:0006298 mismatch repair TAS
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0009411 response to UV TAS
 biological_processGO:0019985 translesion synthesis TAS
 biological_processGO:0032201 telomere maintenance via semi-conservative replication TAS
 biological_processGO:0033683 nucleotide-excision repair, DNA incision TAS
 biological_processGO:0034644 cellular response to UV IDA
 biological_processGO:0042769 DNA damage response, detection of DNA damage TAS
 biological_processGO:0045004 DNA replication proofreading IBA
 biological_processGO:0055089 fatty acid homeostasis IMP
 biological_processGO:0071897 DNA biosynthetic process IEA
 biological_processGO:0090305 nucleic acid phosphodiester bond hydrolysis IEA
 cellular_componentGO:0000109 nucleotide-excision repair complex IDA
 cellular_componentGO:0000784 nuclear chromosome, telomeric region IDA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0016020 membrane HDA
 cellular_componentGO:0016235 aggresome IDA
 cellular_componentGO:0043625 delta DNA polymerase complex IBA
 molecular_functionGO:0000166 nucleotide binding IEA
 molecular_functionGO:0003676 nucleic acid binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003684 damaged DNA binding IDA
 molecular_functionGO:0003887 DNA-directed DNA polymerase activity IEA
 molecular_functionGO:0004518 nuclease activity IEA
 molecular_functionGO:0004527 exonuclease activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008296 3"-5"-exodeoxyribonuclease activity IBA
 molecular_functionGO:0008408 3"-5" exonuclease activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016779 nucleotidyltransferase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0019899 enzyme binding IEA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0051536 iron-sulfur cluster binding IEA
 molecular_functionGO:0051539 4 iron, 4 sulfur cluster binding IEA


Pathways (from Reactome)
Pathway description
Recognition of DNA damage by PCNA-containing replication 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
Cytosolic iron-sulfur cluster assembly
Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha)
Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta)
PCNA-Dependent Long Patch Base Excision Repair
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
Polymerase switching
Removal of the Flap Intermediate
Processive synthesis on the lagging strand


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:0000028 Cryptorchidism "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators]
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 HP:0000135 Hypogonadism "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators]
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 HP:0000160 Microstomia "The presence of an abnormally small `mouth` (FMA:49184)." [HPO:curators]
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 HP:0000347 Mandibular hypoplasia "Underdevelopment of the mandible." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000444 Beaked nose 
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 HP:0000520 Proptosis 
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 HP:0000678 Dental overcrowding 
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 HP:0000819 Diabetes mellitus 
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 HP:0000855 Insulin resistance 
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 HP:0000939 Osteoporosis "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators]
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 HP:0001009 Telangiectasia "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter." [HPO:curators]
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 HP:0001371 Contractures 
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 HP:0001397 Hepatic steatosis 
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 HP:0001620 High pitched voice 
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 HP:0002155 Hypertriglyceridemia 
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0002808 Kyphosis 
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 HP:0002910 Elevated transaminases "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators]
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 HP:0004334 Dermal atrophy "Partial or complete wasting (atrophy) of the skin." [HPO:curators]
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 HP:0009125 Lipodystrophy "Degenerative changes of the fat tissue." [HPO:curators]
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 HP:0100679 Lack of skin elasticity 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000106399 RPA3 / P35244 / replication protein A3  / complex / reaction
 ENSG00000106628 POLD2 / P49005 / DNA polymerase delta 2, accessory subunit  / reaction / complex
 ENSG00000100823 APEX1 / P27695 / apurinic/apyrimidinic endodeoxyribonuclease 1  / complex / reaction
 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
 ENSG00000132383 RPA1 / P27694 / replication protein A1  / complex / reaction
 ENSG00000105486 LIG1 / P18858 / DNA ligase 1  / reaction / complex
 ENSG00000014138 POLA2 / Q14181 / DNA polymerase alpha 2, accessory subunit  / complex / reaction
 ENSG00000175482 POLD4 / Q9HCU8 / DNA polymerase delta 4, accessory subunit  / reaction / complex
 ENSG00000117748 RPA2 / P15927 / replication protein A2  / complex / reaction
 ENSG00000146143 PRIM2 / P49643 / DNA primase subunit 2  / complex / reaction
 ENSG00000168496 FEN1 / P39748 / flap structure-specific endonuclease 1  / reaction / complex
 ENSG00000198056 PRIM1 / P49642 / DNA primase subunit 1  / reaction / complex
 ENSG00000138346 DNA2 / P51530 / DNA replication helicase/nuclease 2  / complex / reaction
 ENSG00000101868 POLA1 / P09884 / DNA polymerase alpha 1, catalytic subunit  / complex / reaction
 ENSG00000132646 PCNA / P12004 / proliferating cell nuclear antigen  / complex / reaction
 ENSG00000070501 POLB / P06746 / DNA polymerase beta  / reaction
 ENSG00000158290 CUL4B / Q13620 / cullin 4B  / reaction / complex
 ENSG00000070950 RAD18 / Q9NS91 / RAD18, E3 ubiquitin protein ligase  / complex / reaction
 ENSG00000119048 UBE2B / P63146 / ubiquitin conjugating enzyme E2 B  / reaction / complex
 ENSG00000167986 DDB1 / Q16531 / damage specific DNA binding protein 1  / complex / reaction
 ENSG00000062822 POLD1 / P28340 / DNA polymerase delta 1, catalytic subunit  / reaction
 ENSG00000100387 RBX1 / P62877 / ring-box 1  / reaction / complex
 ENSG00000143476 DTL / Q9NZJ0 / denticleless E3 ubiquitin protein ligase homolog  / reaction / complex
 ENSG00000139842 CUL4A / Q13619 / cullin 4A  / complex / reaction






 

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