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MTPAP - mitochondrial poly(A) polymerase Gene

Also Known as PAPD1; SPAX4; TENT6

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55149

About MTPAP

Cytogenetic location: 10p11.23 Genomic coordinates (GRCh38): 10:30,309,801-30,349,278 (from NCBI)

This gene has 5 transcripts (splice variants), 206 orthologues, 4 paralogues and is associated with 2 phenotypes. Ubiquitous expression in bone marrow (RPKM 4.8), testis (RPKM 4.4) and 25 other tissues.

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]

MTPAP Products (1)

mRNA	Protein	Name
NM_018109.4	NP_060579.3	poly(A) RNA polymerase, mitochondrial precursor

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	21292163	GOA
enables UTP binding	IDA IDA: Inferred from direct assay	21292163	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	21292163	GOA
enables magnesium ion binding	IDA IDA: Inferred from direct assay	21292163	GOA
enables manganese ion binding	IDA IDA: Inferred from direct assay	21292163	GOA
enables poly(A) RNA polymerase activity	IDA IDA: Inferred from direct assay	21292163	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21903422	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	21292163	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in histone mRNA catabolic process	IMP IMP: Inferred from mutant phenotype	18172165	GOA
involved in mitochondrial RNA 3'-end processing	IDA IDA: Inferred from direct assay	21292163	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MTPAP Protein Structure

PAP_assoc

0
100
200
300
400
500
582 a.a.

Protein Preferred Names	Protein Names
poly(A) RNA polymerase, mitochondrial	PAP-associated domain-containing protein 1

MTPAP Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	MTPAP	Q9NVV4	TBK1	Homo sapiens	Q9UHD2	Anti Tag CoIP	21903422
Intra	MTPAP	Q9NVV4	CALCOCO2	Homo sapiens	Q13137	Anti Tag CoIP	21903422
Intra	MTPAP	Q9NVV4	GTF2IRD1	Homo sapiens	Q9UHL9	Anti Tag CoIP	33961781
Cross	MTPAP	Q9NVV4	Azi2	Mus musculus	Q9QYP6	Anti Tag CoIP	21903422
Intra	MTPAP	Q9NVV4	MTPAP	Homo sapiens	Q9NVV4	X-Ray Diffraction	21292163
Intra	MTPAP	Q9NVV4	EPS15	Homo sapiens	P42566	Phage Display	39009827
Intra	MTPAP	Q9NVV4	MTPAP	Homo sapiens	Q9NVV4	Light Scattering	21292163
Intra	MTPAP	Q9NVV4	MTPAP	Homo sapiens	Q9NVV4	GMS	21292163

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spastic Ataxia 4, Autosomal Recessive	SPAX4 Autosomal Recessive Spastic Ataxia Type 4 Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome Autosomal Recessive Spastic Ataxia 4 Autosomal Recessive Spastic Ataxia - Optic Atrophy - Dysarthria Ataxia, Spastic, 4, Autosomal Recessive
Spastic Ataxia 4
Spastic Ataxia	Spax Ataxia, Spastic
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2	Spinal Muscular Atrophy, Jerash Type DSMA2 Neuropathy, Distal Hereditary Motor, Jerash Type Hmnj Autosomal Recessive Distal Spinal Muscular Atrophy 2 Neuronopathy, Distal Hereditary Motor, Jerash Type Distal Spinal Muscular Atrophy 2 Dhmnj Hereditary Motor Neuropathy, Jerash Type Motor Neuropathy, Distal, Jerash Type Distal Hereditary Motor Neuropathy, Jerash Type Distal Hereditary Motor Neuropathy Jerash Type Spinal Muscular Atrophy Jerash Type Mndj Autosomal Recessive Distal Spinal Muscular Atrophy Type 2 Distal Spinal Muscular Atrophy, Autosomal Recessive, 2 Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 2
Mitochondrial Dna Depletion Syndrome 13	MTDPS13 Fbxl4 Deficiency Fbxl4-Related Encephalomyopathic Mitochondrial Dna Depletion Syndrome Mitochondrial Dna Depletion Syndrome 13, Encephalomyopathic Type Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies Mtdna Depletion Syndrome, Encephalomyopathic Form With Variable Craniofacial Anomalies Fbxl4-Related Early-Onset Mitochondrial Encephalopathy Mitochondrial Dna Depletion Syndrome 13 , Encephalomyopathic Type Bxl4-Related Early-Onset Mitochondrial Encephalopathy Encephalomyopathic Mitochondrial Dna Depletion Syndrome-13 Fbxl4-Related Early Onset Mitochondrial Encephalopathy Mitochondrial Dna Depletion Syndrome, Type 13
Mitochondrial Dna Depletion Syndrome 3	Deoxyguanosine Kinase Deficiency Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form MTDPS3 Dguok Deficiency Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Dguok-Related Mitochondrial Dna Depletion Syndrome Hepatocerebral Mitochondrial Dna Depletion Syndrome Mtdna Depletion Syndrome, Hepatocerebral Form Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type Mitochondrial Dna Depletion Syndrome , Type 3
Spastic Paraparesis
Perlman Syndrome	Nephroblastomatosis, Fetal Ascites, Macrosomia And Wilms Tumor PRLMNS Renal Hamartomas, Nephroblastomatosis, And Fetal Gigantism Nephroblastomatosis Fetal Ascites Macrosomia And Wilms Tumor Nephroblastomatosis, Fetal Ascites, Macrosomia, And Wilms Tumor Nephroblastomatosis - Fetal Ascites - Macrosomia - Wilms Tumor Renal Hamartomas, Nephroblastomatosis And Fetal Gigantism Nephroblastomatosis-Fetal Ascites-Macrosomia-Wilms Tumor Syndrome Renal Hamartomas Nephroblastomatosis And Fetal Gigantism Nephroblastoma Fetal Macrosomia
Developmental And Epileptic Encephalopathy 2	Epileptic Encephalopathy, Early Infantile, 2 DEE2 Eiee2 Issx2 Developmental And Epileptic Encephalopathy, 2 Infantile Spasm Syndrome, X-Linked 2 Early Infantile Epileptic Encephalopathy 2 X-Linked Infantile Spasm Syndrome 2 Atypical Rett Syndrome Cdkl5-Related Atypical Rett Syndrome Hanefeld Variant Infantile Spasm Syndrome X-Linked 2 Rett Syndrome Early-Onset Seizure Variant Rett Syndrome Variant With Infantile Spasms Encephalopathy, Epileptic, Early Infantile, Type 2

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08813	MTPAP Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	MTPAP	RGD	RGD:1310900
Bos taurus	MTPAP	VGNC	VGNC:57009
Macaca mulatta	MTPAP	VGNC	VGNC:106077
Mus musculus	MTPAP	MGD	MGI:1914690
Canis familiaris	MTPAP	VGNC	VGNC:52146
Others	MTPAP	NCBI