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UniProtKB - Q9NP87 (DPOLM_HUMAN)

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Protein

DNA-directed DNA/RNA polymerase mu

Gene

POLM

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

Functioni

Gap-filling polymerase involved in repair of DNA double-strand breaks by non-homologous end joining (NHEJ). Participates in immunoglobulin (Ig) light chain gene rearrangement in V(D)J recombination.4 Publications

Miscellaneous

DPOLM has a reduced ability to distinguish dNTP and rNTP as substrates, and elongates them on DNA primer strand with a similar efficiency. It is able to polymerize nucleotides on RNA primer strands.

Catalytic activityi

Deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1).

Cofactori

Mg2+By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi330MagnesiumBy similarity1
Metal bindingi332MagnesiumBy similarity1
Metal bindingi418MagnesiumBy similarity1
Sitei433Responsible for the low discrimination between dNTP and rNTP1

GO - Molecular functioni

Complete GO annotation...

GO - Biological processi

Complete GO annotation...

Keywordsi

Molecular functionDNA-directed DNA polymerase, Nucleotidyltransferase, Transferase
Biological processDNA damage, DNA recombination, DNA repair
LigandMagnesium, Metal-binding

Enzyme and pathway databases

ReactomeiR-HSA-5693571. Nonhomologous End-Joining (NHEJ).

Names & Taxonomyi

Protein namesi
Recommended name:
DNA-directed DNA/RNA polymerase mu (EC:2.7.7.7)
Short name:
Pol Mu
Alternative name(s):
Terminal transferase
Gene namesi
Name:POLM
Synonyms:polmu
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

HGNCiHGNC:9185. POLM.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi27434.
OpenTargetsiENSG00000122678.
PharmGKBiPA33505.

Chemistry databases

ChEMBLiCHEMBL1914260.

Polymorphism and mutation databases

DMDMi17366980.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002187871 – 494DNA-directed DNA/RNA polymerase muAdd BLAST494

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei12PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9NP87.
MaxQBiQ9NP87.
PaxDbiQ9NP87.
PeptideAtlasiQ9NP87.
PRIDEiQ9NP87.

PTM databases

iPTMnetiQ9NP87.
PhosphoSitePlusiQ9NP87.

Expressioni

Tissue specificityi

Expressed in a number of tissues. Abundant in thymus.

Gene expression databases

BgeeiENSG00000122678.
CleanExiHS_POLM.
ExpressionAtlasiQ9NP87. baseline and differential.
GenevisibleiQ9NP87. HS.

Organism-specific databases

HPAiHPA058900.
HPA066007.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
taxP140793EBI-9675790,EBI-9675698From Human T-cell leukemia virus 1 (isolate Caribbea HS-35 subtype A).

Protein-protein interaction databases

BioGridi118168. 14 interactors.
IntActiQ9NP87. 3 interactors.
STRINGi9606.ENSP00000242248.

Chemistry databases

BindingDBiQ9NP87.

Structurei

Secondary structure

1494
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi26 – 34Combined sources9
Helixi36 – 39Combined sources4
Helixi42 – 54Combined sources13
Beta strandi55 – 58Combined sources4
Beta strandi68 – 73Combined sources6
Helixi76 – 89Combined sources14
Beta strandi98 – 101Combined sources4
Helixi102 – 111Combined sources10
Turni119 – 121Combined sources3
Helixi142 – 144Combined sources3
Helixi154 – 169Combined sources16
Helixi173 – 188Combined sources16
Beta strandi189 – 191Combined sources3
Helixi196 – 199Combined sources4
Helixi207 – 219Combined sources13
Helixi223 – 230Combined sources8
Helixi232 – 241Combined sources10
Helixi248 – 256Combined sources9
Helixi262 – 266Combined sources5
Helixi269 – 271Combined sources3
Helixi274 – 281Combined sources8
Helixi283 – 286Combined sources4
Helixi292 – 309Combined sources18
Beta strandi314 – 317Combined sources4
Helixi319 – 322Combined sources4
Beta strandi326 – 329Combined sources4
Beta strandi331 – 336Combined sources6
Turni340 – 345Combined sources6
Helixi346 – 356Combined sources11
Beta strandi360 – 362Combined sources3
Beta strandi387 – 396Combined sources10
Beta strandi411 – 421Combined sources11
Helixi424 – 426Combined sources3
Helixi427 – 435Combined sources9
Helixi438 – 452Combined sources15
Beta strandi455 – 457Combined sources3
Beta strandi461 – 463Combined sources3
Turni464 – 467Combined sources4
Helixi475 – 481Combined sources7
Helixi489 – 491Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2DUNNMR-A24-143[»]
2HTFNMR-A21-124[»]
4LZDX-ray1.85A132-397[»]
A411-494[»]
4LZGX-ray1.60A132-397[»]
A411-494[»]
4M04X-ray1.90A132-397[»]
A411-494[»]
4M0AX-ray1.85A132-397[»]
A411-494[»]
4YCXX-ray2.10A134-494[»]
4YD1X-ray1.75A134-494[»]
4YD2X-ray2.47A134-397[»]
A411-494[»]
ProteinModelPortaliQ9NP87.
SMRiQ9NP87.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9NP87.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini22 – 122BRCTPROSITE-ProRule annotationAdd BLAST101

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni323 – 332Involved in ssDNA bindingBy similarity10

Sequence similaritiesi

Belongs to the DNA polymerase type-X family.Curated

Phylogenomic databases

eggNOGiKOG2534. Eukaryota.
COG1796. LUCA.
GeneTreeiENSGT00530000063002.
HOGENOMiHOG000263600.
HOVERGENiHBG003670.
InParanoidiQ9NP87.
KOiK03513.
OMAiPEQKTFF.
OrthoDBiEOG091G073W.
PhylomeDBiQ9NP87.
TreeFamiTF103012.

Family and domain databases

CDDicd00027. BRCT. 1 hit.
cd00141. NT_POLXc. 1 hit.
Gene3Di3.30.210.10. 1 hit.
3.40.50.10190. 1 hit.
InterProiView protein in InterPro
IPR001357. BRCT_dom.
IPR002054. DNA-dir_DNA_pol_X.
IPR027249. DNA/RNApol_mu.
IPR019843. DNA_pol-X_BS.
IPR010996. DNA_pol_b-like_N.
IPR028207. DNA_pol_B_palm_palm.
IPR018944. DNA_pol_lambd_fingers_domain.
IPR022312. DNA_pol_X.
IPR029398. PolB_thumb.
IPR001726. TdT/Mu.
PfamiView protein in Pfam
PF14792. DNA_pol_B_palm. 1 hit.
PF14791. DNA_pol_B_thumb. 1 hit.
PF10391. DNA_pol_lambd_f. 1 hit.
PF14716. HHH_8. 1 hit.
PIRSFiPIRSF000817. DNA_NT. 1 hit.
PIRSF501176. DNApol_mu. 1 hit.
PRINTSiPR00869. DNAPOLX.
PR00871. DNAPOLXTDT.
SMARTiView protein in SMART
SM00483. POLXc. 1 hit.
SUPFAMiSSF47802. SSF47802. 1 hit.
SSF52113. SSF52113. 1 hit.
PROSITEiView protein in PROSITE
PS50172. BRCT. 1 hit.
PS00522. DNA_POLYMERASE_X. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9NP87-1) [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
MLPKRRRARV GSPSGDAASS TPPSTRFPGV AIYLVEPRMG RSRRAFLTGL 
        60         70         80         90        100
ARSKGFRVLD ACSSEATHVV MEETSAEEAV SWQERRMAAA PPGCTPPALL 
       110        120        130        140        150
DISWLTESLG AGQPVPVECR HRLEVAGPRK GPLSPAWMPA YACQRPTPLT 
       160        170        180        190        200
HHNTGLSEAL EILAEAAGFE GSEGRLLTFC RAASVLKALP SPVTTLSQLQ 
       210        220        230        240        250
GLPHFGEHSS RVVQELLEHG VCEEVERVRR SERYQTMKLF TQIFGVGVKT 
       260        270        280        290        300
ADRWYREGLR TLDDLREQPQ KLTQQQKAGL QHHQDLSTPV LRSDVDALQQ 
       310        320        330        340        350
VVEEAVGQAL PGATVTLTGG FRRGKLQGHD VDFLITHPKE GQEAGLLPRV 
       360        370        380        390        400
MCRLQDQGLI LYHQHQHSCC ESPTRLAQQS HMDAFERSFC IFRLPQPPGA 
       410        420        430        440        450
AVGGSTRPCP SWKAVRVDLV VAPVSQFPFA LLGWTGSKLF QRELRRFSRK 
       460        470        480        490 
EKGLWLNSHG LFDPEQKTFF QAASEEDIFR HLGLEYLPPE QRNA
Length:494
Mass (Da):54,816
Last modified:October 1, 2000 - v1
Checksum:iB944059725F8B61F
GO
Isoform 2 (identifier: Q9NP87-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     279-356: GLQHHQDLST...LPRVMCRLQD → APPGPEHPSP...GHRHADRRLP

Note: No experimental confirmation available.
Show »
Length:457
Mass (Da):50,430
Checksum:iDE56D41438283CF3
GO
Isoform 3 (identifier: Q9NP87-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     234-276: YQTMKLFTQI...EQPQKLTQQQ → APAPPGPEHP...GHRHADRRLP
     277-356: Missing.
     467-494: KTFFQAASEEDIFRHLGLEYLPPEQRNA → GSSSGKTPRS...GALSASLITV

Note: No experimental confirmation available.
Show »
Length:508
Mass (Da):55,070
Checksum:i25EF59F10FC7D7FB
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022287107E → D1 PublicationCorresponds to variant dbSNP:rs28382635Ensembl.1
Natural variantiVAR_022288220G → A1 PublicationCorresponds to variant dbSNP:rs28382644Ensembl.1
Natural variantiVAR_022289246V → F1 PublicationCorresponds to variant dbSNP:rs28382653Ensembl.1
Natural variantiVAR_022290484L → F1 PublicationCorresponds to variant dbSNP:rs28382661Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_055288234 – 276YQTMK…LTQQQ → APAPPGPEHPSPAVRCRCPA AGGGGSCGAGPAWGHRHADR RLP in isoform 3. 1 PublicationAdd BLAST43
Alternative sequenceiVSP_055289277 – 356Missing in isoform 3. 1 PublicationAdd BLAST80
Alternative sequenceiVSP_055290279 – 356GLQHH…CRLQD → APPGPEHPSPAVRCRCPAAG GGGSCGAGPAWGHRHADRRL P in isoform 2. 1 PublicationAdd BLAST78
Alternative sequenceiVSP_055291467 – 494KTFFQ…EQRNA → GSSSGKTPRSRKSCFCCRRH FSKRLQRKTSSDTWALSTFL QSRETPEPACVPHFHSGNWA APNLATECLQADMLPPDPHL HPSPPRPGSSGGQLCLQDQL SPCWCAAGCDEVGALSASLI TV in isoform 3. 1 PublicationAdd BLAST28

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ131891 mRNA. Translation: CAB65075.2.
AF176097 mRNA. Translation: AAF26284.1.
AY899911 Genomic DNA. Translation: AAW65376.1.
AC017116 Genomic DNA. No translation available.
CH471128 Genomic DNA. Translation: EAW61122.1.
CH471128 Genomic DNA. Translation: EAW61123.1.
CH471128 Genomic DNA. Translation: EAW61124.1.
CH471128 Genomic DNA. Translation: EAW61126.1.
BC049202 mRNA. Translation: AAH49202.2.
BC062590 mRNA. Translation: AAH62590.1.
CCDSiCCDS34625.1. [Q9NP87-1]
CCDS64635.1. [Q9NP87-2]
CCDS64636.1. [Q9NP87-3]
RefSeqiNP_001271259.1. NM_001284330.1. [Q9NP87-3]
NP_001271260.1. NM_001284331.1. [Q9NP87-2]
NP_037416.1. NM_013284.3. [Q9NP87-1]
UniGeneiHs.596982.
Hs.598038.

Genome annotation databases

EnsembliENST00000242248; ENSP00000242248; ENSG00000122678. [Q9NP87-1]
ENST00000335195; ENSP00000335141; ENSG00000122678. [Q9NP87-2]
ENST00000395831; ENSP00000379174; ENSG00000122678. [Q9NP87-3]
GeneIDi27434.
KEGGihsa:27434.
UCSCiuc003tjt.5. human. [Q9NP87-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.

Entry informationi

Entry nameiDPOLM_HUMAN
AccessioniPrimary (citable) accession number: Q9NP87
Secondary accession number(s): D3DVK4, Q6P5X8, Q86WQ9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: October 1, 2000
Last modified: May 10, 2017
This is version 146 of the entry and version 1 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families