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UniProtKB/Swiss-Prot entry Q9NVV4


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

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Entry information
Entry name PAPD1_HUMAN
Primary accession number Q9NVV4
Secondary accession numbers Q659E3 Q6P7E5 Q9HA74
Integrated into Swiss-Prot on October 3, 2006
Sequence was last modified on October 1, 2000 (Sequence version 1)
Annotations were last modified on    November 25, 2008 (Entry version 49)
Name and origin of the protein
Protein name Poly(A) RNA polymerase, mitochondrial [Precursor]
Synonyms PAP
EC 2.7.7.19
mtPAP
Polynucleotide adenylyltransferase
PAP-associated domain-containing protein 1
Gene name
Name: PAPD1
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 2: Evidence at transcript level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
TISSUE=Cervix carcinoma;
DOI=10.1093/nar/gkh923; PubMed=15547249 [NCBI, ExPASy, EBI, Israel, Japan]
Tomecki R., Dmochowska A., Gewartowski K., Dziembowski A., Stepien P.P.;
"Identification of a novel human nuclear-encoded mitochondrial poly(A) polymerase.";
Nucleic Acids Res. 32:6001-6014(2004).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, AND SUBCELLULAR LOCATION.
DOI=10.1074/jbc.M500804200; PubMed=15769737 [NCBI, ExPASy, EBI, Israel, Japan]
Nagaike T., Suzuki T., Katoh T., Ueda T.;
"Human mitochondrial mRNAs are stabilized with polyadenylation regulated by mitochondria-specific poly(A) polymerase and polynucleotide phosphorylase.";
J. Biol. Chem. 280:19721-19727(2005).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
DOI=10.1186/1471-2164-7-48; PubMed=16533400 [NCBI, ExPASy, EBI, Israel, Japan]
Kemmer D., Podowski R.M., Arenillas D., Lim J., Hodges E., Roth P., Sonnhammer E.L.L., Hoeoeg C., Wasserman W.W.;
"NovelFam3000 -- uncharacterized human protein domains conserved across model organisms.";
BMC Genomics 7:48-48(2006).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain, and Mammary gland;
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S., Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
TISSUE=Testis;
The German cDNA consortium;
Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02462; PubMed=15164054 [NCBI, ExPASy, EBI, Israel, Japan]
Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 10.";
Nature 429:375-381(2004).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS HIS-221; ARG-419 AND ASN-546.
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
Comments
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
AB194709; BAD98252.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AY364242; AAQ76801.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK001348; BAA91641.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AK022188; BAB13981.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL122121; CAH56395.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL353796; CAH72262.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL161651; CAH72262.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL161651; CAI14218.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL353796; CAI14218.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC061703; AAH61703.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
RefSeq NP_060579.3; -.
UniGene Hs.173946
3D structure databases
ModBase Q9NVV4.
PTM databases
PhosphoSite Q9NVV4; -.
Organism-specific databases
HGNC HGNC:25532; PAPD1.
GenAtlas PAPD1.
PharmGKB PA134889929; -.
GeneCards Q9NVV4.
Gene expression databases
ArrayExpress Q9NVV4; -.
CleanEx HS_PAPD1; -.
GermOnline ENSG00000107951; Homo sapiens.
Ontologies
GO
GO:0005739; Cellular component: mitochondrion (inferred from electronic annotation from UniProtKB-KW).
GO:0004652; Molecular function: polynucleotide adenylyltransferase activity (inferred from electronic annotation from EC).
GO:0003723; Molecular function: RNA binding (inferred from electronic annotation from UniProtKB-KW).
GO:0006397; Biological process: mRNA processing (inferred from electronic annotation from UniProtKB-KW).
GO:0006350; Biological process: transcription (inferred from electronic annotation from UniProtKB-KW).
QuickGo view.
Family and domain databases
InterPro IPR002058; PAP_assoc.
Graphical view of domain structure.
Pfam PF03828; PAP_assoc; 1.
Pfam graphical view of domain structure.
ProtoNet Q9NVV4.
Genome annotation databases
Ensembl ENSG00000107951; Homo sapiens. [Contig view]
GeneID 55149; -.
KEGG hsa:55149; -.
Phylogenomic databases
HOVERGEN Q9NVV4; -.
Other
NextBio 58876; -.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
Alternative splicing; Mitochondrion; mRNA processing; Polymorphism; RNA-binding; Transcription; Transferase; Transit peptide.
Features
SEVIEWER logo Feature table viewer
KeyFrom   To Length Description FTId
TRANSIT   1    37  37     Mitochondrion (Potential). 
CHAIN   38   582  545     Poly(A) RNA polymerase, mitochondrial. PRO_0000250689
ACT_SITE   245   245        By similarity. 
VAR_SEQ   1    52        MAVPGVGLLTRLNLCARRRTRVQRPIVRLLSCPGTVAKDL RRDEQPSGSVET -> MAWAKKVGGRAGQGRSLSRCDPIILDPEWLYGPPEGEGGP EGVGGETRASIHPPLRTGRHHQKVNHNIRGPEGSAKDAAP GGGGHHQAGPGQRGDEDGALQHLCGGGGGVGVSVGRGTGT SVAAEHPSLQVKLLELQELVLRLAGDHNEGHGKFLAAAQN PADDPAPGAPAPQELGAADKQG (in isoform 2). VSP_020724
VARIANT   162   162  1     R -> C (in dbSNP:rs1047991 [NCBI]). VAR_027601 
VARIANT   221   221  1     Y -> H (in dbSNP:rs17855118 [NCBI]). VAR_027602 
VARIANT   419   419  1     C -> R (in dbSNP:rs17857517 [NCBI]). VAR_027603 
VARIANT   546   546  1     S -> N (in dbSNP:rs17855116 [NCBI]). VAR_027604 
CONFLICT   507   507        W -> L (in Ref. 4; BAB13981). 
CONFLICT   554   554        V -> A (in Ref. 4; BAB13981). 
Sequence information
Length: 582 AA [This is the length of the unprocessed precursor] Molecular weight: 66172 Da [This is the MW of the unprocessed precursor] CRC64: EBA5BECEA39A5090 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MAVPGVGLLT RLNLCARRRT RVQRPIVRLL SCPGTVAKDL RRDEQPSGSV ETGFEDKIPK 

        70         80         90        100        110        120 
RRFSEMQNER REQAQRTVLI HCPEKISENK FLKYLSQFGP INNHFFYESF GLYAVVEFCQ 

       130        140        150        160        170        180 
KESIGSLQNG THTPSTAMET AIPFRSRFFN LKLKNQTSER SRVRSSNQLP RSNKQLFELL 

       190        200        210        220        230        240 
CYAESIDDQL NTLLKEFQLT EENTKLRYLT CSLIEDMAAA YFPDCIVRPF GSSVNTFGKL 

       250        260        270        280        290        300 
GCDLDMFLDL DETRNLSAHK ISGNFLMEFQ VKNVPSERIA TQKILSVLGE CLDHFGPGCV 

       310        320        330        340        350        360 
GVQKILNARC PLVRFSHQAS GFQCDLTTNN RIALTSSELL YIYGALDSRV RALVFSVRCW 

       370        380        390        400        410        420 
ARAHSLTSSI PGAWITNFSL TMMVIFFLQR RSPPILPTLD SLKTLADAED KCVIEGNNCT 

       430        440        450        460        470        480 
FVRDLSRIKP SQNTETLELL LKEFFEYFGN FAFDKNSINI RQGREQNKPD SSPLYIQNPF 

       490        500        510        520        530        540 
ETSLNISKNV SQSQLQKFVD LARESAWILQ QEDTDRPSIS SNRPWGLVSL LLPSAPNRKS 

       550        560        570        580 
FTKKKSNKFA IETVKNLLES LKGNRTENFT KTSGKRTIST QT 

Q9NVV4 in FASTA format

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