ENSG00000164306


Homo sapiens

Features
Gene ID: ENSG00000164306
  
Biological name :PRIMPOL
  
Synonyms : primase and DNA directed polymerase / PRIMPOL / Q96LW4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: 1
Band: q35.1
Gene start: 184649613
Gene end: 184694963
  
Corresponding Affymetrix probe sets: 227157_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000422199
Ensembl peptide - ENSP00000421913
Ensembl peptide - ENSP00000423353
Ensembl peptide - ENSP00000425316
Ensembl peptide - ENSP00000424639
Ensembl peptide - ENSP00000423409
Ensembl peptide - ENSP00000313816
Ensembl peptide - ENSP00000420860
NCBI entrez gene - 201973     See in Manteia.
OMIM - 615421
RefSeq - XM_017007875
RefSeq - XM_017007864
RefSeq - XM_017007865
RefSeq - XM_017007866
RefSeq - XM_017007867
RefSeq - XM_017007868
RefSeq - XM_017007869
RefSeq - XM_017007870
RefSeq - XM_017007871
RefSeq - XM_017007872
RefSeq - XM_017007873
RefSeq - XM_017007874
RefSeq - NM_001300767
RefSeq - NM_001300768
RefSeq - NM_001345895
RefSeq - NM_001345896
RefSeq - NM_152683
RefSeq - XM_011531719
RefSeq - XM_011531720
RefSeq - XM_011531721
RefSeq - XM_011531723
RefSeq - XM_011531724
RefSeq - XM_011531725
RefSeq - XM_011531726
RefSeq - XM_011531729
RefSeq - XM_011531730
RefSeq Peptide - NP_001287697
RefSeq Peptide - NP_001332824
RefSeq Peptide - NP_001332825
RefSeq Peptide - NP_689896
RefSeq Peptide - NP_001287696
swissprot - A0A0A0MTC0
swissprot - D6R971
swissprot - D6R908
swissprot - D3DP56
swissprot - H0Y9N8
swissprot - Q96LW4
Ensembl - ENSG00000164306
  
Related genetic diseases (OMIM): 615420 - Myopia 22, autosomal dominant, 615420
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
 Q32PL8ENSDARG00000033273Danio rerio
 PRIMPOLENSGALG00000010636Gallus gallus
 Q6P1E7ENSMUSG00000038225Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
No match


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006264 mitochondrial DNA replication IMP
 biological_processGO:0006269 DNA replication, synthesis of RNA primer IEA
 biological_processGO:0006281 DNA repair IEA
 biological_processGO:0006974 cellular response to DNA damage stimulus IEA
 biological_processGO:0009411 response to UV IDA
 biological_processGO:0019985 translesion synthesis IMP
 biological_processGO:0031297 replication fork processing IMP
 biological_processGO:0032774 RNA biosynthetic process IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005759 mitochondrial matrix IEA
 molecular_functionGO:0003682 chromatin binding IDA
 molecular_functionGO:0003887 DNA-directed DNA polymerase activity IEA
 molecular_functionGO:0003896 DNA primase activity IDA
 molecular_functionGO:0003899 DNA-directed 5"-3" RNA polymerase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016779 nucleotidyltransferase activity IEA
 molecular_functionGO:0030145 manganese ion binding TAS


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:0000545 Myopia 
Show

 HP:0007663 Decreased central vision 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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