Reviewed, UniProtKB/Swiss-Prot Q9NVV4 (PAPD1_HUMAN)

Names and origin

Protein names

Recommended name:
    Poly(A) RNA polymerase, mitochondrial
      Short name=PAP
    EC=2.7.7.19
Alternative name(s):
    mtPAP
    Polynucleotide adenylyltransferase
    PAP-associated domain-containing protein 1

Gene names

Name:	MTPAP
Synonyms:	PAPD1

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	582 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Polymerase that creates the 3' poly(A) tail of mitochondrial transcripts. Might be responsible for the creation of some UAA stop codons which are not encoded in mtDNA. Ref.1 Ref.2
Catalytic activity	ATP + RNA(n) = diphosphate + RNA(n+1).
Subcellular location	Mitochondrion. Ref.1 Ref.2
Tissue specificity	Ubiquitous, with stronger expression in tissues with high energy requirements: heart, brain, and skeletal muscle. Ref.1
Sequence similarities	Belongs to the DNA polymerase type-B-like family.

Ontologies

Keywords
Biological process	Transcription mRNA processing
Cellular component	Mitochondrion
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Transit peptide
Ligand	ATP-binding Nucleotide-binding RNA-binding
Molecular function	Transferase
Technical term	Complete proteome
Gene Ontology (GO)
Biological process	mRNA processing Inferred from electronic annotation. Source: UniProtKB-KW transcription Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	mitochondrion Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW RNA binding Inferred from electronic annotation. Source: UniProtKB-KW polynucleotide adenylyltransferase activity Inferred from electronic annotation. Source: EC
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q9NVV4-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q9NVV4-2)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 37	37	Mitochondrion Potential
	Chain	38 – 582	545	Poly(A) RNA polymerase, mitochondrial		PRO_0000250689
Sites
	Active site	245	1	By similarity
Natural variations
	Alternative sequence	1 – 52	52	MAVPG…GSVET → MAWAKKVGGRAGQGRSLSRC DPIILDPEWLYGPPEGEGGP EGVGGETRASIHPPLRTGRH HQKVNHNIRGPEGSAKDAAP GGGGHHQAGPGQRGDEDGAL QHLCGGGGGVGVSVGRGTGT SVAAEHPSLQVKLLELQELV LRLAGDHNEGHGKFLAAAQN PADDPAPGAPAPQELGAADK QG in isoform 2.		VSP_020724
	Natural variant	162	1	R → C: dbSNP rs1047991.		VAR_027601
	Natural variant	221	1	Y → H: dbSNP rs17855118. Ref.7		VAR_027602
	Natural variant	419	1	C → R: dbSNP rs17857517. Ref.7		VAR_027603
	Natural variant	546	1	S → N: dbSNP rs17855116. Ref.7		VAR_027604
Experimental info
	Sequence conflict	507	1	W → L in BAB13981. Ref.4
	Sequence conflict	554	1	V → A in BAB13981. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 1, 2000. Version 1. Checksum: EBA5BECEA39A5090	FASTA	582	66,172
	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
	Isoform 2. Checksum: 90B570568F0B7A26	FASTA	712	78,833
	10 20 30 40 50 60 MAWAKKVGGR AGQGRSLSRC DPIILDPEWL YGPPEGEGGP EGVGGETRAS IHPPLRTGRH 70 80 90 100 110 120 HQKVNHNIRG PEGSAKDAAP GGGGHHQAGP GQRGDEDGAL QHLCGGGGGV GVSVGRGTGT 130 140 150 160 170 180 SVAAEHPSLQ VKLLELQELV LRLAGDHNEG HGKFLAAAQN PADDPAPGAP APQELGAADK 190 200 210 220 230 240 QGGFEDKIPK RRFSEMQNER REQAQRTVLI HCPEKISENK FLKYLSQFGP INNHFFYESF 250 260 270 280 290 300 GLYAVVEFCQ KESIGSLQNG THTPSTAMET AIPFRSRFFN LKLKNQTSER SRVRSSNQLP 310 320 330 340 350 360 RSNKQLFELL CYAESIDDQL NTLLKEFQLT EENTKLRYLT CSLIEDMAAA YFPDCIVRPF 370 380 390 400 410 420 GSSVNTFGKL GCDLDMFLDL DETRNLSAHK ISGNFLMEFQ VKNVPSERIA TQKILSVLGE 430 440 450 460 470 480 CLDHFGPGCV GVQKILNARC PLVRFSHQAS GFQCDLTTNN RIALTSSELL YIYGALDSRV 490 500 510 520 530 540 RALVFSVRCW ARAHSLTSSI PGAWITNFSL TMMVIFFLQR RSPPILPTLD SLKTLADAED 550 560 570 580 590 600 KCVIEGNNCT FVRDLSRIKP SQNTETLELL LKEFFEYFGN FAFDKNSINI RQGREQNKPD 610 620 630 640 650 660 SSPLYIQNPF ETSLNISKNV SQSQLQKFVD LARESAWILQ QEDTDRPSIS SNRPWGLVSL 670 680 690 700 710 LLPSAPNRKS FTKKKSNKFA IETVKNLLES LKGNRTENFT KTSGKRTIST QT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Identification of a novel human nuclear-encoded mitochondrial poly(A) polymerase." Tomecki R., Dmochowska A., Gewartowski K., Dziembowski A., Stepien P.P. Nucleic Acids Res. 32:6001-6014(2004) [PubMed: 15547249] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TISSUE SPECIFICITY. Tissue: Cervix carcinoma.
[2]	"Human mitochondrial mRNAs are stabilized with polyadenylation regulated by mitochondria-specific poly(A) polymerase and polynucleotide phosphorylase." Nagaike T., Suzuki T., Katoh T., Ueda T. J. Biol. Chem. 280:19721-19727(2005) [PubMed: 15769737] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION.
[3]	"NovelFam3000 -- uncharacterized human protein domains conserved across model organisms." Kemmer D., Podowski R.M., Arenillas D., Lim J., Hodges E., Roth P., Sonnhammer E.L.L., Hoeoeg C., Wasserman W.W. BMC Genomics 7:48-48(2006) [PubMed: 16533400] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." 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. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Brain and Mammary gland.
[5]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Testis.
[6]	"The DNA sequence and comparative analysis of human chromosome 10." 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. Nature 429:375-381(2004) [PubMed: 15164054] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS HIS-221; ARG-419 AND ASN-546.
[8]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBLGenBankDDBJ	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. AL353796, AL161651 Genomic DNA. Translation: CAH72262.1. AL161651, AL353796 Genomic DNA. Translation: CAI14218.1. BC061703 mRNA. Translation: AAH61703.1.
IPI	IPI00153051. IPI00470416.
RefSeq	NP_060579.3.
UniGene	Hs.173946
3D structure databases
ModBase	Search...
Proteomic databases
PRIDE	Q9NVV4.
Genome annotation databases
Ensembl	ENSG00000107951. Homo sapiens. [Contig view]
GeneID	55149.
KEGG	hsa:55149.
UCSC	uc001iva.2. human. uc001ivb.2. human.
Organism-specific databases
GeneCards	GC10M030642.
HGNC	HGNC:25532. MTPAP.
PharmGKB	PA134889929.
GenAtlas	Search...
Phylogenomic databases
HOVERGEN	Q9NVV4.
OMA	Q9NVV4. PGCVGVQ.
Enzyme and pathway databases
BRENDA	2.7.7.19. 247.
Gene expression databases
ArrayExpress	Q9NVV4.
Bgee	Q9NVV4.
GermOnline	ENSG00000107951. Homo sapiens.
Family and domain databases
InterPro	IPR002058. PAP_assoc. [Graphical view]
Pfam	PF03828. PAP_assoc. 1 hit. [Graphical view]
ProtoNet	Search...
Other Resources
NextBio	58876.

Entry information

Entry name

PAPD1_HUMAN

Accession

Primary (citable) accession number: Q9NVV4
Secondary accession number(s): Q659E3, Q6P7E5, Q9HA74

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 3, 2006
Last sequence update:	October 1, 2000
Last modified:	July 7, 2009
This is version 57 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)