2. Gene
  3. MTPAP - mitochondrial poly(A) polymerase Gene

MTPAP - mitochondrial poly(A) polymerase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as PAPD1; SPAX4; TENT6

Gene ID: 55149 | Gene type: protein coding

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

MTPAP Protein Structure

PAP_assoc

PAP_assoc: Cid1 family poly A polymerase (437 - 483)

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  • 582 a.a.
Protein Preferred Names Protein Names

poly(A) RNA polymerase, mitochondrial

PAP-associated domain-containing protein 1

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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS08813 MTPAP Human Pre-designed siRNA Set A / 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