MTPAP

Protein identityUniProt · HPA

UniProt accession

Q9NVV4

Gene

MTPAP

Ensembl

ENSG00000107951

Chromosome

10

Canonical length

582 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Vesicles,Mitochondria

Quaternary structure

Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

582 residues, UniProt reviewed canonical sequence.

>Q9NVV4|MTPAP
     1  MAVPGVGLLT RLNLCARRRT RVQRPIVRLL SCPGTVAKDL RRDEQPSGSV ETGFEDKIPK
    61  RRFSEMQNER REQAQRTVLI HCPEKISENK FLKYLSQFGP INNHFFYESF GLYAVVEFCQ
   121  KESIGSLQNG THTPSTAMET AIPFRSRFFN LKLKNQTSER SRVRSSNQLP RSNKQLFELL
   181  CYAESIDDQL NTLLKEFQLT EENTKLRYLT CSLIEDMAAA YFPDCIVRPF GSSVNTFGKL
   241  GCDLDMFLDL DETRNLSAHK ISGNFLMEFQ VKNVPSERIA TQKILSVLGE CLDHFGPGCV
   301  GVQKILNARC PLVRFSHQAS GFQCDLTTNN RIALTSSELL YIYGALDSRV RALVFSVRCW
   361  ARAHSLTSSI PGAWITNFSL TMMVIFFLQR RSPPILPTLD SLKTLADAED KCVIEGNNCT
   421  FVRDLSRIKP SQNTETLELL LKEFFEYFGN FAFDKNSINI RQGREQNKPD SSPLYIQNPF
   481  ETSLNISKNV SQSQLQKFVD LARESAWILQ QEDTDRPSIS SNRPWGLVSL LLPSAPNRKS
   541  FTKKKSNKFA IETVKNLLES LKGNRTENFT KTSGKRTIST QT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against MTPAP can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.34

Highest tissue expression

35 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about MTPAP.

Disease | AllUniProt

Conditions MTPAP is implicated in, by any mechanism.

• Spastic ataxia 4, autosomal recessive (SPAX4) MIM:613672

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 439 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Spastic ataxia 4
• Spastic ataxia

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.19

gnomAD pLI

1

gnomAD missense Z

0.95

DepMap mean gene effect

-0.57

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• histone mRNA catabolic process
• mitochondrial mRNA polyadenylation
• mitochondrial RNA 3'-end processing
• mRNA processing
• RNA 3'-end processing

Molecular functions

• ATP binding
• identical protein binding
• magnesium ion binding
• manganese ion binding
• poly(A) RNA polymerase activity
• protein homodimerization activity
• RNA binding
• UTP binding

Cellular components

• mitochondrial matrix
• mitochondrion
• nucleoplasm

Protein domainsUniProt · Pfam · InterPro

• PAP/25A-associated
• Nucleotidyltransferase superfamily
• Poly(A) RNA polymerase, mitochondrial-like, central palm domain
• Cid1 family poly A polymerase
• Poly(A) RNA polymerase, mitochondrial-like, central palm domain
• RL domain
• RL domain

KeywordsUniProt

• Acetylation
• ATP-binding
• Cytoplasm
• Magnesium
• Manganese
• Metal-binding
• Mitochondrion
• mRNA processing
• Neurodegeneration
• Nucleotide-binding
• Nucleotidyltransferase
• RNA-binding
• Transcription
• Transferase
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of MTPAP in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CALCOCO2
• DYNLL1
• DYNLL2
• TBK1