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UniProtKB - Q9NVV4 (PAPD1_HUMAN)

Entry version 167 (25 May 2022)
Sequence version 1 (01 Oct 2000)
Previous versions | rss
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Protein

Poly(A) RNA polymerase, mitochondrial

Gene

MTPAP

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Polymerase that creates the 3' poly(A) tail of mitochondrial transcripts. Can use all four nucleotides, but has higher activity with ATP and UTP (in vitro). Plays a role in replication-dependent histone mRNA degradation. May be involved in the terminal uridylation of mature histone mRNAs before their degradation is initiated. Might be responsible for the creation of some UAA stop codons which are not encoded in mtDNA.

5 Publications

<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the 'Function' section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Mg2+1 Publication, Mn2+1 Publication

<p>This subsection of the 'Function' section describes biophysical and chemical properties, such as maximal absorption, kinetic parameters, pH dependence, redox potentials and temperature dependence.<p><a href='/help/biophysicochemical_properties' target='_top'>More...</a></p>Kineticsi

  1. KM=0.1 mM for ATP1 Publication
  2. KM=0.7 mM for UTP1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the 'Description' field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi243Magnesium; catalyticBy similarity1
Metal bindingi245Magnesium; catalyticBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi107 – 109ATPSequence analysis3
Nucleotide bindingi241 – 242ATPSequence analysis2

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionNucleotidyltransferase, RNA-binding, Transferase
Biological processmRNA processing, Transcription
LigandATP-binding, Magnesium, Manganese, Metal-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDA Comprehensive Enzyme Information System

More...BRENDAi		2.7.7.19, 2681

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9NVV4

SABIO-RK: Biochemical Reaction Kinetics Database

More...SABIO-RKi		Q9NVV4

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		Q9NVV4

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Poly(A) RNA polymerase, mitochondrial (EC:2.7.7.192 Publications)
Short name:
PAP
Alternative name(s):
PAP-associated domain-containing protein 1
Polynucleotide adenylyltransferase
Terminal uridylyltransferase 1
Short name:
TUTase 1
mtPAP
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MTPAP
Synonyms:PAPD1
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 10

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:25532, MTPAP

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		613669, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NVV4

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000107951

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Keywords - Cellular componenti

Cytoplasm, Mitochondrion

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Spastic ataxia 4, autosomal recessive (SPAX4)1 Publication
The disease is caused by variants affecting the gene represented in this entry. MTPAP mutations result in a defect of mitochondrial mRNA maturation. Affected individuals exhibit a drastic decrease in poly(A) tail length of mitochondrial mRNA transcripts, including COX1 and RNA14 (PubMed:20970105).1 Publication
Disease descriptionA slowly progressive neurodegenerative disease characterized by cerebellar ataxia, spastic paraparesis, dysarthria, and optic atrophy.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_064907478N → D in SPAX4. 1 PublicationCorresponds to variant dbSNP:rs267606900EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi221 – 222YF → AA: Reduces dimerization. 1 Publication2
Mutagenesisi230F → A: Reduced enzyme activity. 1 Publication1
Mutagenesisi259 – 261HKI → AAA: No effect on dimerization. Loss of dimerization and of enzyme activity; when associated with 294-AAAA-297. 1 Publication3
Mutagenesisi294 – 297HFGP → AAGA: Reduced dimerization. Loss of dimerization and of enzyme activity; when associated with 259-AAA-261. 1 Publication4
Mutagenesisi312L → A: Reduced enzyme activity. 1 Publication1
Mutagenesisi325D → A: Loss of enzyme activity. 1 Publication1
Mutagenesisi378F → A: Reduced enzyme activity. 1 Publication1

Keywords - Diseasei

Disease variant, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		55149

MalaCards human disease database

More...MalaCardsi		MTPAP
MIMi613672, phenotype

Open Targets

More...OpenTargetsi		ENSG00000107951

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		254343, Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA164723192

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NVV4, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		MTPAP

Domain mapping of disease mutations (DMDM)

More...DMDMi		74753002

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a transit peptide.<p><a href='/help/transit' target='_top'>More...</a></p>Transit peptidei1 – 37MitochondrionSequence analysisAdd BLAST37
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000025068938 – 582Poly(A) RNA polymerase, mitochondrialAdd BLAST545

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei90N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NVV4

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NVV4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NVV4

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q9NVV4

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9NVV4

PeptideAtlas

More...PeptideAtlasi		Q9NVV4

PRoteomics IDEntifications database

More...PRIDEi		Q9NVV4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		82864 [Q9NVV4-1]
82865 [Q9NVV4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NVV4

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9NVV4

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9NVV4

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous, with stronger expression in tissues with high energy requirements: heart, brain, and skeletal muscle.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000107951, Expressed in oocyte and 237 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NVV4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NVV4, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000107951, Tissue enhanced (bone)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		120452, 169 interactors

Protein interaction database and analysis system

More...IntActi		Q9NVV4, 27 interactors

Molecular INTeraction database

More...MINTi		Q9NVV4

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000263063

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9NVV4, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1582
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

AlphaFold Protein Structure Database

More...AlphaFoldDBi		Q9NVV4

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9NVV4

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9NVV4

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini437 – 483PAP-associatedAdd BLAST47

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the DNA polymerase type-B-like family.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG2277, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158582

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_018757_3_1_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NVV4

Identification of Orthologs from Complete Genome Data

More...OMAi		RTVLIKC

Database of Orthologous Groups

More...OrthoDBi		1188122at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NVV4

TreeFam database of animal gene trees

More...TreeFami		TF354308

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.460.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR043519, NT_sf
IPR002058, PAP_assoc
IPR041252, RL
IPR045100, TUTase_dom

Pfam protein domain database

More...Pfami		View protein in Pfam
PF03828, PAP_assoc, 1 hit
PF17797, RL, 1 hit
PF19088, TUTase, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF81301, SSF81301, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9NVV4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <p><strong>What is the canonical sequence?</strong><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAVPGVGLLT RLNLCARRRT RVQRPIVRLL SCPGTVAKDL RRDEQPSGSV 
        60         70         80         90        100
ETGFEDKIPK RRFSEMQNER REQAQRTVLI HCPEKISENK FLKYLSQFGP 
       110        120        130        140        150
INNHFFYESF GLYAVVEFCQ KESIGSLQNG THTPSTAMET AIPFRSRFFN 
       160        170        180        190        200
LKLKNQTSER SRVRSSNQLP RSNKQLFELL CYAESIDDQL NTLLKEFQLT 
       210        220        230        240        250
EENTKLRYLT CSLIEDMAAA YFPDCIVRPF GSSVNTFGKL GCDLDMFLDL 
       260        270        280        290        300
DETRNLSAHK ISGNFLMEFQ VKNVPSERIA TQKILSVLGE CLDHFGPGCV 
       310        320        330        340        350
GVQKILNARC PLVRFSHQAS GFQCDLTTNN RIALTSSELL YIYGALDSRV 
       360        370        380        390        400
RALVFSVRCW ARAHSLTSSI PGAWITNFSL TMMVIFFLQR RSPPILPTLD 
       410        420        430        440        450
SLKTLADAED KCVIEGNNCT FVRDLSRIKP SQNTETLELL LKEFFEYFGN 
       460        470        480        490        500
FAFDKNSINI RQGREQNKPD SSPLYIQNPF ETSLNISKNV SQSQLQKFVD 
       510        520        530        540        550
LARESAWILQ QEDTDRPSIS SNRPWGLVSL LLPSAPNRKS FTKKKSNKFA 
       560        570        580 
IETVKNLLES LKGNRTENFT KTSGKRTIST QT
Length:582
Mass (Da):66,172
Last modified:October 1, 2000 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iEBA5BECEA39A5090
GO
Isoform 2 (identifier: Q9NVV4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-52: MAVPGVGLLT...DEQPSGSVET → MAWAKKVGGR...QELGAADKQG

Show »
Length:712
Mass (Da):78,833
Checksum:i90B570568F0B7A26
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T852Q5T852_HUMAN
Poly(A) RNA polymerase, mitochondri...
MTPAP
219Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
Q5T851Q5T851_HUMAN
Poly(A) RNA polymerase, mitochondri...
MTPAP
150Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti507W → L in BAB13981 (PubMed:14702039).Curated1
Sequence conflicti554V → A in BAB13981 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_027601162R → C. Corresponds to variant dbSNP:rs1047991EnsemblClinVar.1
Natural variantiVAR_027602221Y → H1 PublicationCorresponds to variant dbSNP:rs17855118Ensembl.1
Natural variantiVAR_027603419C → R1 PublicationCorresponds to variant dbSNP:rs17857517Ensembl.1
Natural variantiVAR_064907478N → D in SPAX4. 1 PublicationCorresponds to variant dbSNP:rs267606900EnsemblClinVar.1
Natural variantiVAR_027604546S → N1 PublicationCorresponds to variant dbSNP:rs17855116EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0207241 – 52MAVPG…GSVET → MAWAKKVGGRAGQGRSLSRC DPIILDPEWLYGPPEGEGGP EGVGGETRASIHPPLRTGRH HQKVNHNIRGPEGSAKDAAP GGGGHHQAGPGQRGDEDGAL QHLCGGGGGVGVSVGRGTGT SVAAEHPSLQVKLLELQELV LRLAGDHNEGHGKFLAAAQN PADDPAPGAPAPQELGAADK QG in isoform 2. 1 PublicationAdd BLAST52

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AB194709 mRNA Translation: BAD98252.1
AY364242 mRNA Translation: AAQ76801.1
AK001348 mRNA Translation: BAA91641.1
AK022188 mRNA Translation: BAB13981.1
AL122121 mRNA Translation: CAH56395.1
AL161651 Genomic DNA No translation available.
AL353796 Genomic DNA No translation available.
CH471072 Genomic DNA Translation: EAW86014.1
CH471072 Genomic DNA Translation: EAW86015.1
BC061703 mRNA Translation: AAH61703.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS7165.1 [Q9NVV4-1]

NCBI Reference Sequences

More...RefSeqi		NP_060579.3, NM_018109.3 [Q9NVV4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000263063.9; ENSP00000263063.3; ENSG00000107951.15

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55149

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55149

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000263063.9; ENSP00000263063.3; NM_018109.4; NP_060579.3

UCSC genome browser

More...UCSCi		uc001iva.5, human [Q9NVV4-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB194709 mRNA Translation: BAD98252.1
AY364242 mRNA Translation: AAQ76801.1
AK001348 mRNA Translation: BAA91641.1
AK022188 mRNA Translation: BAB13981.1
AL122121 mRNA Translation: CAH56395.1
AL161651 Genomic DNA No translation available.
AL353796 Genomic DNA No translation available.
CH471072 Genomic DNA Translation: EAW86014.1
CH471072 Genomic DNA Translation: EAW86015.1
BC061703 mRNA Translation: AAH61703.1
CCDSiCCDS7165.1 [Q9NVV4-1]
RefSeqiNP_060579.3, NM_018109.3 [Q9NVV4-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3PQ1X-ray3.10A/B44-134[»]
A/B172-452[»]
A/B490-538[»]
AlphaFoldDBiQ9NVV4
SMRiQ9NVV4
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi120452, 169 interactors
IntActiQ9NVV4, 27 interactors
MINTiQ9NVV4
STRINGi9606.ENSP00000263063

PTM databases

iPTMnetiQ9NVV4
PhosphoSitePlusiQ9NVV4
SwissPalmiQ9NVV4

Genetic variation databases

BioMutaiMTPAP
DMDMi74753002

Proteomic databases

EPDiQ9NVV4
jPOSTiQ9NVV4
MassIVEiQ9NVV4
MaxQBiQ9NVV4
PaxDbiQ9NVV4
PeptideAtlasiQ9NVV4
PRIDEiQ9NVV4
ProteomicsDBi82864 [Q9NVV4-1]
82865 [Q9NVV4-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		35309, 102 antibodies from 16 providers

The DNASU plasmid repository

More...DNASUi		55149

Genome annotation databases

EnsembliENST00000263063.9; ENSP00000263063.3; ENSG00000107951.15
GeneIDi55149
KEGGihsa:55149
MANE-SelectiENST00000263063.9; ENSP00000263063.3; NM_018109.4; NP_060579.3
UCSCiuc001iva.5, human [Q9NVV4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55149
DisGeNETi55149

GeneCards: human genes, protein and diseases

More...GeneCardsi		MTPAP
HGNCiHGNC:25532, MTPAP
HPAiENSG00000107951, Tissue enhanced (bone)
MalaCardsiMTPAP
MIMi613669, gene
613672, phenotype
neXtProtiNX_Q9NVV4
OpenTargetsiENSG00000107951
Orphaneti254343, Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
PharmGKBiPA164723192
VEuPathDBiHostDB:ENSG00000107951

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG2277, Eukaryota
GeneTreeiENSGT00940000158582
HOGENOMiCLU_018757_3_1_1
InParanoidiQ9NVV4
OMAiRTVLIKC
OrthoDBi1188122at2759
PhylomeDBiQ9NVV4
TreeFamiTF354308

Enzyme and pathway databases

BRENDAi2.7.7.19, 2681
PathwayCommonsiQ9NVV4
SABIO-RKiQ9NVV4
SignaLinkiQ9NVV4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		55149, 501 hits in 1093 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		MTPAP, human
EvolutionaryTraceiQ9NVV4

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		55149
PharosiQ9NVV4, Tbio

Protein Ontology

More...PROi		PR:Q9NVV4
RNActiQ9NVV4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000107951, Expressed in oocyte and 237 other tissues
ExpressionAtlasiQ9NVV4, baseline and differential
GenevisibleiQ9NVV4, HS

Family and domain databases

Gene3Di3.30.460.10, 1 hit
InterProiView protein in InterPro
IPR043519, NT_sf
IPR002058, PAP_assoc
IPR041252, RL
IPR045100, TUTase_dom
PfamiView protein in Pfam
PF03828, PAP_assoc, 1 hit
PF17797, RL, 1 hit
PF19088, TUTase, 1 hit
SUPFAMiSSF81301, SSF81301, 1 hit

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPAPD1_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9NVV4
Secondary accession number(s): D3DRX0
, Q659E3, Q6P7E5, Q9HA74
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 3, 2006
Last sequence update: October 1, 2000
Last modified: May 25, 2022
This is version 167 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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