MTPAP mitochondrial poly(A) polymerase [Homo sapiens (human)] - Gene

Summary

Official Symbol: MTPAPprovided by HGNC
Official Full Name: mitochondrial poly(A) polymeraseprovided by HGNC
Primary source: HGNC:HGNC:25532
See related: Ensembl:ENSG00000107951 MIM:613669; AllianceGenome:HGNC:25532
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PAPD1; SPAX4; TENT6
Summary: The protein encoded by this gene is a member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011]
Expression: Ubiquitous expression in bone marrow (RPKM 4.8), testis (RPKM 4.4) and 25 other tissues See more
Orthologs: mouse all
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 10p11.23

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (30309801..30349278, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (30340827..30380279, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (30598730..30638207, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

USP4 regulates TUT1 ubiquitination status in concert with SART3.
Title: USP4 regulates TUT1 ubiquitination status in concert with SART3.
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
Title: Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
These results indicate that NDP52 and MTPAP form an autophagy receptor complex, which enhances autophagic elimination of damaged mitochondria.
Title: NDP52 interacts with mitochondrial RNA poly(A) polymerase to promote mitophagy.
Mitochondrial poly(A) polymerase is able to add the discriminator adenosine to tRNATyr.
Title: Mitochondrial poly(A) polymerase is involved in tRNA repair.
The polymerase activity of mtPAP is modulated by LRPPRC/SLIRP; N478D mtPAP mutation decreases its activity and the alteration in poly(A) length causes dysregulation of post-transcriptional expression and lack of respiratory chain complexes.
Title: A human mitochondrial poly(A) polymerase mutation reveals the complexities of post-transcriptional mitochondrial gene expression.
Mutation of the MTPAP gene results in a cellular phenotype of increased DNA damage, reduced repair kinetics, increased cell death by apoptosis, and reduced clonogenic survival after exposure to ionizing radiation.
Title: Homozygous mutation of MTPAP causes cellular radiosensitivity and persistent DNA double-strand breaks.
show that dimerization is required for the catalytic activity of PAPD1
Title: Structural basis for dimerization and activity of human PAPD1, a noncanonical poly(A) polymerase.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Characterization of this marker shows that it is orthologous to the human gene KIAA1462 located on HSA10p11.23, where a major quantitative trait locus for morbid obesity has been reported.
Title: A novel nuclear-encoded mitochondrial poly(A) polymerase PAPD1 is a potential candidate gene for the extreme obesity related phenotypes in mammals.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spastic ataxia 4 MedGen: C3150925 OMIM: 613672 GeneReviews: Not available	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

Markers

STS-T71331 (e-PCR)
- UniSTS:39941

RH44699 (e-PCR)
- UniSTS:51719

D8S2278 (e-PCR)
- UniSTS:473906

RH93834 (e-PCR)
- UniSTS:84530

D8S2279 (e-PCR)
- UniSTS:473907

D10S16 (e-PCR)
- UniSTS:155756

D1S1425 (e-PCR)
- UniSTS:149621

D16S325 (e-PCR)
- UniSTS:147089

SHGC-56580 (e-PCR)
- UniSTS:50065

L17877 (e-PCR)
- UniSTS:61334

PAPD1__5824 (e-PCR)
- UniSTS:463772

STS-R05306 (e-PCR)
- UniSTS:27066

L17971 (e-PCR)
- UniSTS:43966

L29953 (e-PCR)
- UniSTS:52164

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA binding	HDA more info	PubMed
enables UTP binding	IDA Inferred from Direct Assay more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables magnesium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables manganese ion binding	IDA Inferred from Direct Assay more info	PubMed
enables poly(A) RNA polymerase activity	IBA Inferred from Biological aspect of Ancestor more info
enables poly(A) RNA polymerase activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in RNA 3'-end processing	IBA Inferred from Biological aspect of Ancestor more info
involved_in histone mRNA catabolic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial RNA 3'-end processing	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info

General protein information

Go to the top of the page Help

Preferred Names: poly(A) RNA polymerase, mitochondrial

Names: PAP-associated domain-containing protein 1; TUTase 1; polynucleotide adenylyltransferase; terminal uridylyltransferase 1

NP_060579.3

EC 2.7.7.19

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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.

Genomic

NG_028096.1 RefSeqGene

Range

5061..44538

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018109.4 → NP_060579.3 poly(A) RNA polymerase, mitochondrial precursor

See identical proteins and their annotated locations for NP_060579.3

Status: REVIEWED

Source sequence(s)

AL161651, AL353796

Consensus CDS

CCDS7165.1

UniProtKB/Swiss-Prot

D3DRX0, Q659E3, Q6P7E5, Q9HA74, Q9NVV4

Related

ENSP00000263063.3, ENST00000263063.9

Conserved Domains (2) summary

cd05402
Location:206 → 344

NT_PAP_TUTase; Nucleotidyltransferase (NT) domain of poly(A) polymerases and terminal uridylyl transferases

pfam03828
Location:440 → 483

PAP_assoc; Cid1 family poly A polymerase