POLM DNA polymerase mu [Homo sapiens (human)] - Gene

Summary

Official Symbol: POLMprovided by HGNC
Official Full Name: DNA polymerase muprovided by HGNC
Primary source: HGNC:HGNC:9185
See related: Ensembl:ENSG00000122678 MIM:606344; AllianceGenome:HGNC:9185
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Tdt-N; Pol Mu
Summary: Predicted to enable DNA-directed DNA polymerase activity. Predicted to be involved in double-strand break repair via nonhomologous end joining. Predicted to act upstream of or within B cell differentiation and somatic hypermutation of immunoglobulin genes. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in spleen (RPKM 6.9), lymph node (RPKM 5.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p13

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (44072062..44082530, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (44230561..44241032, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (44111661..44122129, complement)

Chromosome 7 - NC_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

DNA Polymerase and dRP-lyase activities of polymorphic variants of human Pol iota.
Title: DNA Polymerase and dRP-lyase activities of polymorphic variants of human Pol ι.
Mechanism of genome instability mediated by human DNA polymerase mu misincorporation.
Title: Mechanism of genome instability mediated by human DNA polymerase mu misincorporation.
DNA polymerase mu: An inflexible scaffold for substrate flexibility.
Title: DNA polymerase mu: An inflexible scaffold for substrate flexibility.
pol mu-mediated deoxyguanosine triphosphate mismatch insertion opposite template base T coupled with ligation could be a feature of mutation prone nonhomologous end joining during double-strand break repair.
Title: Pol μ dGTP mismatch insertion opposite T coupled with ligation reveals promutagenic DNA repair intermediate.
Polmu point mutations affecting 2 conserved adjacent residues located in the 8 kDa domain, G174S and R175H, limit the efficiency of accurate NHEJ by Polmu in vitro and in vivo due to decreased template dependency during NHEJ, which renders the error-rate of the mutants higher due to the ability of Polmu to randomly incorporate nucleotides at DSBs.
Title: Polμ tumor variants decrease the efficiency and accuracy of NHEJ.
Structural accommodation of ribonucleotide incorporation by the DNA repair enzyme polymerase Mu has been described.
Title: Structural accommodation of ribonucleotide incorporation by the DNA repair enzyme polymerase Mu.
analysis of template-dependent synthesis by human polymerase mu
Title: Creative template-dependent synthesis by human polymerase mu.
A study of how Polmu fixes and/or orients the mobile Loop1 part of the protein in accordance with the substrate on which it is polymerizing.
Title: Decision-making during NHEJ: a network of interactions in human Polμ implicated in substrate recognition and end-bridging.
specific loop 1 residues contribute to Pol mu's unique ability to catalyze template-dependent NHEJ of DSBs with unpaired 3' ends
Title: Sustained active site rigidity during synthesis by human DNA polymerase μ.
evidence suggests that Polmu could be regulated in vivo by phosphorylation of the BRCT domain (Ser12/Thr21) and of Ser372, affecting the function of loop1; Polmu's most distinctive activities would be turned off at specific cell-cycle phases (S and G2), when these functions might be harmful to the cell
Title: The BRCT domain and the specific loop 1 of human Polμ are targets of Cdk2/cyclin A phosphorylation.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

POLM_3577 (e-PCR)
- UniSTS:462429

csnppolm-pcr1-1 (e-PCR)
- UniSTS:243084

csnppolm-pcr11-1 (e-PCR)
- UniSTS:243085

csnppolm-pcr2-1 (e-PCR)
- UniSTS:243086

csnppolm-pcr3-1 (e-PCR)
- UniSTS:243087

csnppolm-pcr4-1 (e-PCR)
- UniSTS:243088

csnppolm-pcr6-1 (e-PCR)
- UniSTS:243089

csnppolm-pcr7-1 (e-PCR)
- UniSTS:243090

csnppolm-pcr8-1 (e-PCR)
- UniSTS:243091

csnppolm-pcr9-1 (e-PCR)
- UniSTS:243092

GDB:4585669 (e-PCR)
- UniSTS:15095

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-directed DNA polymerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-directed DNA polymerase activity	TAS Traceable Author Statement more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in DNA recombination	IEA Inferred from Electronic Annotation more info
involved_in double-strand break repair via nonhomologous end joining	IBA Inferred from Biological aspect of Ancestor more info
involved_in double-strand break repair via nonhomologous end joining	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: DNA-directed DNA/RNA polymerase mu

Names: Pol iota; polymerase (DNA) mu; polymerase (DNA-directed), mu; terminal transferase

NP_001271259.1

EC 2.7.7.7

NP_001271260.1

EC 2.7.7.7

NP_001349612.1

EC 2.7.7.7

NP_037416.1

EC 2.7.7.7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001284330.2 → NP_001271259.1 DNA-directed DNA/RNA polymerase mu isoform 2

See identical proteins and their annotated locations for NP_001271259.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 1, one of which results in a translational frameshift, compared to variant 1. The resulting protein (isoform 2) has a distinct C-terminus and is longer than isoform 1.

Source sequence(s)

AA917987, AU309799, BC049202

Consensus CDS

CCDS64636.1

UniProtKB/Swiss-Prot

Q9NP87

Related

ENSP00000379174.3, ENST00000395831.7

Conserved Domains (3) summary

smart00483
Location:152 → 383

POLXc; DNA polymerase X family

cd00027
Location:29 → 109

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

cl11966
Location:156 → 387

NT_Pol-beta-like; Nucleotidyltransferase (NT) domain of DNA polymerase beta and similar proteins
NM_001284331.2 → NP_001271260.1 DNA-directed DNA/RNA polymerase mu isoform 3

See identical proteins and their annotated locations for NP_001271260.1

Status: VALIDATED

Description

Transcript Variant: This variant (3) has multiple differences in the coding region but maintains the reading frame, compared to variant 1. This results in a isoform (3) that is shorter, compared to isoform 1.

Source sequence(s)

AA917987, AU309799, BC062590

Consensus CDS

CCDS64635.1

UniProtKB/Swiss-Prot

Q9NP87

Related

ENSP00000335141.6, ENST00000335195.10

Conserved Domains (3) summary

cd00141
Location:156 → 455

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

smart00483
Location:152 → 456

POLXc; DNA polymerase X family

cd00027
Location:29 → 109

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
NM_001362683.2 → NP_001349612.1 DNA-directed DNA/RNA polymerase mu isoform 4

Status: VALIDATED

Source sequence(s)

AA917987, AF176097, AU309799, BM744180, BM756419

Conserved Domains (2) summary

cd00141
Location:156 → 467

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

cd00027
Location:29 → 109

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...
NM_013284.4 → NP_037416.1 DNA-directed DNA/RNA polymerase mu isoform 1

See identical proteins and their annotated locations for NP_037416.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AA917987, AF176097, AU309799

Consensus CDS

CCDS34625.1

UniProtKB/Swiss-Prot

D3DVK4, Q6P5X8, Q86WQ9, Q9NP87

Related

ENSP00000242248.5, ENST00000242248.10

Conserved Domains (3) summary

cd00141
Location:156 → 492

NT_POLXc; Nucleotidyltransferase (NT) domain of family X DNA Polymerases

smart00483
Location:152 → 493

POLXc; DNA polymerase X family

cd00027
Location:29 → 109

BRCT; Breast Cancer Suppressor Protein (BRCA1), carboxy-terminal domain. The BRCT domain is found within many DNA damage repair and cell cycle checkpoint proteins. The unique diversity of this domain superfamily allows BRCT modules to interact forming homo ...

RNA

NR_104299.2 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) uses two alternate splice sites, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AA917987, AC017116, AK023002, AU309799

Related

ENST00000430942.5
NR_156112.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AA917987, AC017116, AF176097, AU309799, BC049202, BX395027
NR_156113.2 RNA Sequence

Status: VALIDATED

Source sequence(s)

AA917987, AU309799, BC049202, BG386713, BX395027