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Protein

DNA-directed DNA/RNA polymerase mu

Gene

POLM

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

GO - Biological processi

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000122678.14
HGNCiHGNC:9185 POLM
MIMi606344 gene
neXtProtiNX_Q9NP87

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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
ProteomicsDBi81932

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
ELMiQ9NP87
IntActiQ9NP87, 3 interactors
MINTiQ9NP87
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 – 336Combined sources11
Turni340 – 345Combined sources6
Helixi346 – 356Combined sources11
Beta strandi360 – 362Combined sources3
Beta strandi386 – 396Combined sources11
Beta strandi411 – 421Combined sources11
Helixi424 – 426Combined sources3
Helixi427 – 435Combined sources9
Helixi438 – 452Combined sources15
Beta strandi455 – 457Combined sources3
Beta strandi460 – 463Combined sources4
Turni464 – 467Combined sources4
Helixi475 – 481Combined sources7
Helixi489 – 491Combined sources3

3D structure databases

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
Gene3Di1.10.150.110, 1 hit
3.30.210.10, 1 hit
3.40.50.10190, 1 hit
InterProiView protein in InterPro
IPR001357 BRCT_dom
IPR036420 BRCT_dom_sf
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
IPR027421 DNA_pol_lamdba_lyase_dom_sf
IPR037160 DNA_Pol_thumb_sf
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

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: June 20, 2018
This is version 151 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

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