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Protein

DNA-directed primase/polymerase protein

Gene

PRIMPOL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

DNA primase and DNA polymerase able to initiate de novo DNA synthesis using dNTPs. Shows a high capacity to tolerate DNA damage lesions such as 8oxoG and abasic sites in DNA. Involved in translesion synthesis via its primase activity by mediating uninterrupted fork progression after programmed or damage-induced fork arrest and by reinitiating DNA synthesis after dNTP depletion. Required for mitochondrial DNA (mtDNA) synthesis, suggesting it may be involved in DNA tolerance during the replication of mitochondrial DNA. Has non-overlapping function with POLH.4 Publications

Cofactori

Mn2+1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei114Sequence analysis1
Active sitei116Sequence analysis1

GO - Molecular functioni

  • chromatin binding Source: UniProtKB
  • DNA-directed DNA polymerase activity Source: UniProtKB
  • DNA primase activity Source: UniProtKB
  • manganese ion binding Source: UniProtKB

GO - Biological processi

  • mitochondrial DNA replication Source: UniProtKB
  • replication fork processing Source: UniProtKB
  • response to UV Source: UniProtKB
  • translesion synthesis Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

DNA-directed DNA polymerase, Nucleotidyltransferase, Transferase

Keywords - Biological processi

DNA damage, DNA repair, Transcription

Keywords - Ligandi

Manganese

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164306-MONOMER.

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-directed primase/polymerase protein (EC:2.7.7.-)
Short name:
hPrimpol1
Alternative name(s):
Coiled-coil domain-containing protein 111
Gene namesi
Name:PRIMPOL
Synonyms:CCDC111
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

HGNCiHGNC:26575. PRIMPOL.

Subcellular locationi

  • Nucleus
  • Mitochondrion matrix

  • Note: Present in the nucleus, but a larger fraction is localized inside mitochondria. Associates with nuclear chromatin during the G1 and S phases of unperturbed cell cycles.

GO - Cellular componenti

  • mitochondrial matrix Source: UniProtKB
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

DNA-directed RNA polymerase, Mitochondrion, Nucleus

Pathology & Biotechi

Involvement in diseasei

Myopia 22, autosomal dominant (MYP22)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far.
See also OMIM:615420
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07012089Y → D in MYP22. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi114 – 116DLE → ALA: Abolishes DNA primase and polymerase activities. 2 Publications3
Mutagenesisi114D → A: Abolishes DNA primase and polymerase activities. 1 Publication1
Mutagenesisi169H → N: Abolishes DNA primase and polymerase activities. 1 Publication1
Mutagenesisi419C → G in mutant CH; abolished DNA primase activity and impaired ability to restart stalled forks; when associated with Y-426. 1 Publication1
Mutagenesisi426H → D: Abolishes DNA primase activity, while it increases DNA polymerase activity. 2 Publications1
Mutagenesisi426H → Y in mutant CH; abolished DNA primase activity and impaired ability to restart stalled forks; when associated with G-419. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi201973.
MalaCardsiPRIMPOL.
MIMi615420. phenotype.
PharmGKBiPA145008751.

Polymorphism and mutation databases

BioMutaiCCDC111.
DMDMi296434425.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002793951 – 560DNA-directed primase/polymerase proteinAdd BLAST560

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei255PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ96LW4.
PaxDbiQ96LW4.
PeptideAtlasiQ96LW4.
PRIDEiQ96LW4.

PTM databases

iPTMnetiQ96LW4.
PhosphoSitePlusiQ96LW4.

Expressioni

Gene expression databases

BgeeiENSG00000164306.
CleanExiHS_CCDC111.
ExpressionAtlasiQ96LW4. baseline and differential.
GenevisibleiQ96LW4. HS.

Organism-specific databases

HPAiHPA054372.

Interactioni

Subunit structurei

Interacts with RPA1.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
RPA1P276947EBI-10044038,EBI-621389

Protein-protein interaction databases

BioGridi128410. 6 interactors.
IntActiQ96LW4. 9 interactors.
STRINGi9606.ENSP00000313816.

Structurei

3D structure databases

ProteinModelPortaliQ96LW4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni481 – 560Interaction with RPA11 PublicationAdd BLAST80

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili1 – 22Sequence analysisAdd BLAST22

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi419 – 452Zinc knuckle motifAdd BLAST34

Sequence similaritiesi

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IIJT. Eukaryota.
ENOG410XP31. LUCA.
HOGENOMiHOG000111379.
HOVERGENiHBG081027.
InParanoidiQ96LW4.
OrthoDBiEOG091G0C75.
PhylomeDBiQ96LW4.
TreeFamiTF328961.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96LW4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNRKWEAKLK QIEERASHYE RKPLSSVYRP RLSKPEEPPS IWRLFHRQAQ
60 70 80 90 100
AFNFVKSCKE DVHVFALECK VGDGQRIYLV TTYAEFWFYY KSRKNLLHCY
110 120 130 140 150
EVIPENAVCK LYFDLEFNKP ANPGADGKKM VALLIEYVCK ALQELYGVNC
160 170 180 190 200
SAEDVLNLDS STDEKFSQHL IFQLHDVAFK DNIHVGNFLR KILQPALDLL
210 220 230 240 250
GSEDDDSAPE TTGHGFPHFS EAPARQGFSF NKMFTEKATE ESWTSNSKKL
260 270 280 290 300
ERLGSAEQSS PDLSFLVVKN NMGEKHLFVD LGVYTRNRNF RLYKSSKIGK
310 320 330 340 350
RVALEVTEDN KFFPIQSKDV SDEYQYFLSS LVSNVRFSDT LRILTCEPSQ
360 370 380 390 400
NKQKGVGYFN SIGTSVETIE GFQCSPYPEV DHFVLSLVNK DGIKGGIRRW
410 420 430 440 450
NYFFPEELLV YDICKYRWCE NIGRAHKSNN IMILVDLKNE VWYQKCHDPV
460 470 480 490 500
CKAENFKSDC FPLPAEVCLL FLFKEEEEFT TDEADETRSN ETQNPHKPSP
510 520 530 540 550
SRLSTGASAD AVWDNGIDDA YFLEATEDAE LAEAAENSLL SYNSEVDEIP
560
DELIIEVLQE
Length:560
Mass (Da):64,383
Last modified:May 18, 2010 - v2
Checksum:iC7E75FC7EFAEEF13
GO
Isoform 2 (identifier: Q96LW4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     366-366: Missing.

Note: No experimental confirmation available.
Show »
Length:559
Mass (Da):64,284
Checksum:iDAD93AE1418958AB
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti322D → G in CAI46079 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07012089Y → D in MYP22. 1 Publication1
Natural variantiVAR_030878168Q → R.4 PublicationsCorresponds to variant rs2463447dbSNPEnsembl.1
Natural variantiVAR_030879505T → K.Corresponds to variant rs14969dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_053600366Missing in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057729 mRNA. Translation: BAB71553.1.
BX647575 mRNA. Translation: CAI46079.1.
AC079257 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX04669.1.
CH471056 Genomic DNA. Translation: EAX04670.1.
BC064600 mRNA. Translation: AAH64600.1.
CCDSiCCDS3837.1. [Q96LW4-1]
CCDS75211.1. [Q96LW4-2]
RefSeqiNP_001287696.1. NM_001300767.1.
NP_001287697.1. NM_001300768.1.
NP_689896.1. NM_152683.3.
UniGeneiHs.481307.

Genome annotation databases

EnsembliENST00000314970; ENSP00000313816; ENSG00000164306.
ENST00000503752; ENSP00000420860; ENSG00000164306.
GeneIDi201973.
KEGGihsa:201973.
UCSCiuc003iwk.3. human. [Q96LW4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057729 mRNA. Translation: BAB71553.1.
BX647575 mRNA. Translation: CAI46079.1.
AC079257 Genomic DNA. No translation available.
CH471056 Genomic DNA. Translation: EAX04669.1.
CH471056 Genomic DNA. Translation: EAX04670.1.
BC064600 mRNA. Translation: AAH64600.1.
CCDSiCCDS3837.1. [Q96LW4-1]
CCDS75211.1. [Q96LW4-2]
RefSeqiNP_001287696.1. NM_001300767.1.
NP_001287697.1. NM_001300768.1.
NP_689896.1. NM_152683.3.
UniGeneiHs.481307.

3D structure databases

ProteinModelPortaliQ96LW4.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi128410. 6 interactors.
IntActiQ96LW4. 9 interactors.
STRINGi9606.ENSP00000313816.

PTM databases

iPTMnetiQ96LW4.
PhosphoSitePlusiQ96LW4.

Polymorphism and mutation databases

BioMutaiCCDC111.
DMDMi296434425.

Proteomic databases

MaxQBiQ96LW4.
PaxDbiQ96LW4.
PeptideAtlasiQ96LW4.
PRIDEiQ96LW4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000314970; ENSP00000313816; ENSG00000164306.
ENST00000503752; ENSP00000420860; ENSG00000164306.
GeneIDi201973.
KEGGihsa:201973.
UCSCiuc003iwk.3. human. [Q96LW4-1]

Organism-specific databases

CTDi201973.
DisGeNETi201973.
GeneCardsiPRIMPOL.
HGNCiHGNC:26575. PRIMPOL.
HPAiHPA054372.
MalaCardsiPRIMPOL.
MIMi615420. phenotype.
615421. gene.
neXtProtiNX_Q96LW4.
PharmGKBiPA145008751.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IIJT. Eukaryota.
ENOG410XP31. LUCA.
HOGENOMiHOG000111379.
HOVERGENiHBG081027.
InParanoidiQ96LW4.
OrthoDBiEOG091G0C75.
PhylomeDBiQ96LW4.
TreeFamiTF328961.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000164306-MONOMER.

Miscellaneous databases

ChiTaRSiPRIMPOL. human.
GenomeRNAii201973.
PROiQ96LW4.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000164306.
CleanExiHS_CCDC111.
ExpressionAtlasiQ96LW4. baseline and differential.
GenevisibleiQ96LW4. HS.

Family and domain databases

ProtoNetiSearch...

Entry informationi

Entry nameiPRIPO_HUMAN
AccessioniPrimary (citable) accession number: Q96LW4
Secondary accession number(s): D3DP55, D6RDM1, Q5HYJ9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 6, 2007
Last sequence update: May 18, 2010
Last modified: November 30, 2016
This is version 108 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.