Q69ZP3 (PNKD_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Probable hydrolase PNKD
EC=3.-.-.-

Alternative name(s):
Myofibrillogenesis regulator 1
Short name=MR-1
Paroxysmal nonkinesiogenic dyskinesia protein

Gene names

Name:	Pnkd
Synonyms:	Brp17, Kiaa1184, Mr1, Tahccp2
ORF Names:	Fksg19, MNCb-5687

Organism

Mus musculus (Mouse)

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	385 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Probable hydrolase that plays an aggravative role in the development of cardiac hypertrophy via activation of the NF-kappa-B signaling pathway. Ref.9
Subunit structure	Isoform 2 interacts with the sarcomeric proteins, MRLC2, MYOM1 and ENO3 By similarity.
Subcellular location	Isoform 1: Membrane; Peripheral membrane protein. Isoform 2: Cytoplasm. Nucleus. Isoform 4: Mitochondrion By similarity.
Tissue specificity	Expressed in many discrete areas of the brain. Ref.8
Induction	By Hepatitis C virus core protein. Ref.1
Post-translational modification	Isoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR By similarity.
Miscellaneous	Mice overexpressing Pnkd infused with angiotensin II develop greater cardiac hypertrophy as well as increased cardiac inflammation and fibrosis, compared with angiotensin II-infused normal mice. In these mice, Pnkd overexpression promote nuclear factor kappa B activation.
Sequence similarities	Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
Sequence caution	The sequence BAC30873.1 differs from that shown. Reason: Erroneous initiation. The sequence BAD32403.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Cellular component	Cytoplasm Membrane Mitochondrion Nucleus
Coding sequence diversity	Alternative splicing
Ligand	Metal-binding Zinc
Molecular function	Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular component	membrane Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrion Inferred from direct assay. Source: MGI nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	hydroxyacylglutathione hydrolase activity Inferred from electronic annotation. Source: InterPro zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q69ZP3-1)

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: Q69ZP3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     80-142: YSLYTRTWLG...YLIIDTQAGL → AIGFPCGILF...FPEVGSGAQT
     143-385: Missing.

Note: Contains a phosphoserine at position 121 (By similarity).

Isoform 3 (identifier: Q69ZP3-3)

The sequence of this isoform differs from the canonical sequence as follows:
     79-79: W → WAIGFPCGILFFVLTKQEVDKDRLKQMKARQNMRVSNTGE

Isoform 4 (identifier: Q69ZP3-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-79: MAAVVAATAL...NPMKAVGLAW → MAWQGWLAPW...RSQRLLFRIG

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 385	385	Probable hydrolase PNKD		PRO_0000299550
Regions
	Region	291 – 293	3	Substrate By similarity
	Region	376 – 379	4	Substrate By similarity
Sites
	Metal binding	172	1	Zinc 1 By similarity
	Metal binding	174	1	Zinc 1 By similarity
	Metal binding	176	1	Zinc 2 By similarity
	Metal binding	177	1	Zinc 2 By similarity
	Metal binding	229	1	Zinc 1 By similarity
	Metal binding	253	1	Zinc 1 By similarity
	Metal binding	253	1	Zinc 2 By similarity
	Metal binding	291	1	Zinc 2 By similarity
Natural variations
	Alternative sequence	1 – 79	79	MAAVV…VGLAW → MAWQGWLAPWLWVSGCWLLF FAFVLLLSPRSCQEQRGFRG LLMTRSQRLLFRIG in isoform 4.		VSP_027741
	Alternative sequence	79	1	W → WAIGFPCGILFFVLTKQEVD KDRLKQMKARQNMRVSNTGE in isoform 3.		VSP_027742
	Alternative sequence	80 – 142	63	YSLYT…TQAGL → AIGFPCGILFFVLTKQEVDK DRLKQMKARQNMRVSNTGEY ESQRYRASPQQAQFPEVGSG AQT in isoform 2.		VSP_027743
	Alternative sequence	143 – 385	243	Missing in isoform 2.		VSP_027744
Experimental info
	Sequence conflict	17	1	N → H in AAL25717. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 11, 2007. Version 2. Checksum: 2327D63BFDDA849A	FASTA	385	43,017
	10 20 30 40 50 60 MAAVVAATAL KGRGARNARV LRGILSGATA NKASQNRTRA LQSHSSPECK EEPEPLSPEL 70 80 90 100 110 120 EYIPRKRGKN PMKAVGLAWY SLYTRTWLGY LFYRQQLRRA RNRYPKGHSK TQPRLFNGVK 130 140 150 160 170 180 VLPIPVLSDN YSYLIIDTQA GLAVAVDPSD PRAVQASIEK ERVNLVAILC THKHWDHSGG 190 200 210 220 230 240 NRDLSRRHRD CRVYGSPQDG IPYLTHPLCH QDVVSVGRLQ IRALATPGHT QGHLVYLLDG 250 260 270 280 290 300 EPYKGPSCLF SGDLLFLSGC GRTFEGTAET MLSSLDTVLD LGDDTLLWPG HEYAEENLGF 310 320 330 340 350 360 AGVVEPENLA RERKMQWVQR QRMERKSTCP STLGEERAYN PFLRTHCLEL QEALGPGPGP 370 380 TSDDGCSRAQ LLEELRRLKD MHKSK
	Isoform 2 [UniParc]. Checksum: 5F4F298C8322D810	FASTA	142	15,586
	10 20 30 40 50 60 MAAVVAATAL KGRGARNARV LRGILSGATA NKASQNRTRA LQSHSSPECK EEPEPLSPEL 70 80 90 100 110 120 EYIPRKRGKN PMKAVGLAWA IGFPCGILFF VLTKQEVDKD RLKQMKARQN MRVSNTGEYE 130 140 SQRYRASPQQ AQFPEVGSGA QT
	Isoform 3 [UniParc]. Checksum: 0D67C6EB5DF5851B	FASTA	424	47,469
	10 20 30 40 50 60 MAAVVAATAL KGRGARNARV LRGILSGATA NKASQNRTRA LQSHSSPECK EEPEPLSPEL 70 80 90 100 110 120 EYIPRKRGKN PMKAVGLAWA IGFPCGILFF VLTKQEVDKD RLKQMKARQN MRVSNTGEYS 130 140 150 160 170 180 LYTRTWLGYL FYRQQLRRAR NRYPKGHSKT QPRLFNGVKV LPIPVLSDNY SYLIIDTQAG 190 200 210 220 230 240 LAVAVDPSDP RAVQASIEKE RVNLVAILCT HKHWDHSGGN RDLSRRHRDC RVYGSPQDGI 250 260 270 280 290 300 PYLTHPLCHQ DVVSVGRLQI RALATPGHTQ GHLVYLLDGE PYKGPSCLFS GDLLFLSGCG 310 320 330 340 350 360 RTFEGTAETM LSSLDTVLDL GDDTLLWPGH EYAEENLGFA GVVEPENLAR ERKMQWVQRQ 370 380 390 400 410 420 RMERKSTCPS TLGEERAYNP FLRTHCLELQ EALGPGPGPT SDDGCSRAQL LEELRRLKDM HKSK
	Isoform 4 [UniParc]. Checksum: 2850E188CA7AF41C	FASTA	360	40,982
	10 20 30 40 50 60 MAWQGWLAPW LWVSGCWLLF FAFVLLLSPR SCQEQRGFRG LLMTRSQRLL FRIGYSLYTR 70 80 90 100 110 120 TWLGYLFYRQ QLRRARNRYP KGHSKTQPRL FNGVKVLPIP VLSDNYSYLI IDTQAGLAVA 130 140 150 160 170 180 VDPSDPRAVQ ASIEKERVNL VAILCTHKHW DHSGGNRDLS RRHRDCRVYG SPQDGIPYLT 190 200 210 220 230 240 HPLCHQDVVS VGRLQIRALA TPGHTQGHLV YLLDGEPYKG PSCLFSGDLL FLSGCGRTFE 250 260 270 280 290 300 GTAETMLSSL DTVLDLGDDT LLWPGHEYAE ENLGFAGVVE PENLARERKM QWVQRQRMER 310 320 330 340 350 360 KSTCPSTLGE ERAYNPFLRT HCLELQEALG PGPGPTSDDG CSRAQLLEEL RRLKDMHKSK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Transactivating effect of hepatitis C virus core protein: a suppression subtractive hybridization study." Liu M., Liu Y., Cheng J., Zhang S.-L., Wang L., Shao Q., Zhang J., Yang Q. World J. Gastroenterol. 10:1746-1749(2004) [PubMed: 15188498] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), INDUCTION.
[2]	"Isolation of full-length cDNA clones from mouse brain cDNA library made by oligo-capping method." Osada N., Kusuda J., Tanuma R., Ito A., Hirata M., Sugano S., Hashimoto K. Submitted (APR-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4). Strain: C57BL/6. Tissue: Brain.
[3]	"Cloning of FKSG19, a novel gene expressed in ovarian tumour tissue." Wang Y.-G., Gong L. Submitted (OCT-2000) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
[4]	"Cloning and functional analysis of Mus musculus myofibrillogenesis regulator 1 (MR-1)." Hu Y., Li T., Wang Y. Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2). Strain: C57BL/6J. Tissue: Spleen.
[5]	"Prediction of the coding sequences of mouse homologues of KIAA gene: IV. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries." Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S., Saga Y., Seino S., Nishimura M., Kaisho T., Hoshino K., Kitamura H., Nagase T., Ohara O., Koga H. DNA Res. 11:205-218(2004) [PubMed: 15368895] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Pancreatic islet.
[6]	"The transcriptional landscape of the mammalian genome." Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y. Science 309:1559-1563(2005) [PubMed: 16141072] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (PARTIAL ISOFORM 4). Strain: C57BL/6J. Tissue: Aorta and Tongue.
[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] (ISOFORMS 2 AND 3). Strain: C57BL/6 and FVB/N. Tissue: Brain and Mammary tumor.
[8]	"The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway." Lee H.-Y., Xu Y., Huang Y., Ahn A.H., Auburger G.W., Pandolfo M., Kwiecinski H., Grimes D.A., Lang A.E., Nielsen J.E., Averyanov Y., Servidei S., Friedman A., Van Bogaert P., Abramowicz M.J., Bruno M.K., Sorensen B.F., Tang L., Fu Y.-H., Ptacek L.J. Hum. Mol. Genet. 13:3161-3170(2004) [PubMed: 15496428] [Abstract] Cited for: TISSUE SPECIFICITY.
[9]	"Overexpression of myofibrillogenesis regulator-1 aggravates cardiac hypertrophy induced by angiotensin II in mice." Li H.-L., She Z.-G., Li T.-B., Wang A.-B., Yang Q., Wei Y.-S., Wang Y.-G., Liu D.-P. Hypertension 49:1399-1408(2007) [PubMed: 17420335] [Abstract] Cited for: TRANSGENIC MICE, FUNCTION.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AY039041 mRNA. Translation: AAK83447.1. AY039042 Genomic DNA. Translation: AAK83448.1. AB041609 mRNA. Translation: BAA95092.1. AF318058 mRNA. Translation: AAL25717.1. AY299972 mRNA. Translation: AAP58373.1. AK173125 mRNA. Translation: BAD32403.1. Different initiation. AK009545 mRNA. Translation: BAB26351.1. AK012976 mRNA. Translation: BAB28577.2. AK041238 mRNA. Translation: BAC30873.1. Different initiation. AK166548 mRNA. Translation: BAE38846.1. BC008274 mRNA. Translation: AAH08274.1. BC058945 mRNA. Translation: AAH58945.1. BC116236 mRNA. Translation: AAI16237.1. BC116237 mRNA. Translation: AAI16238.1.
IPI	IPI00121559. IPI00187405. IPI00453946. IPI00464245.
RefSeq	NP_001034598.1. NM_001039509.1. NP_064383.1. NM_019999.2. NP_079856.2. NM_025580.2.
UniGene	Mm.384726.
3D structure databases
HSSP	HSSP built from PDB template 1QH5 based on UniProtKB Q16775.
ProteinModelPortal	Q69ZP3.
SMR	Q69ZP3. Positions 119-384.
ModBase	Search...
Protein-protein interaction databases
STRING	Q69ZP3.
Proteomic databases
PRIDE	Q69ZP3.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000027370; ENSMUSP00000027370; ENSMUSG00000026179. ENSMUST00000087225; ENSMUSP00000084477; ENSMUSG00000026179. ENSMUST00000087226; ENSMUSP00000084478; ENSMUSG00000026179. ENSMUST00000113805; ENSMUSP00000109436; ENSMUSG00000026179.
GeneID	56695.
KEGG	mmu:56695.
UCSC	uc007bls.1. mouse. uc007blt.1. mouse. uc007blu.1. mouse. uc007blw.1. mouse.
Organism-specific databases
CTD	25953.
MGI	MGI:1930773. Pnkd.
Rouge	Search...
Phylogenomic databases
eggNOG	maNOG16824.
GeneTree	ENSGT00530000063033.
HOVERGEN	HBG001152.
OMA	HQDCRVY.
OrthoDB	EOG412M5W.
Gene expression databases
ArrayExpress	Q69ZP3.
Bgee	Q69ZP3.
CleanEx	MM_MR1. MM_PNKD.
Genevestigator	Q69ZP3.
Family and domain databases
InterPro	IPR001279. Beta-lactamas-like. IPR017782. Hydroxyacylglutathione_Hdrlase. [Graphical view]
PANTHER	PTHR11935:SF7. PTHR11935:SF7. 1 hit.
Pfam	PF00753. Lactamase_B. 1 hit. [Graphical view]
SMART	SM00849. Lactamase_B. 1 hit. [Graphical view]
TIGRFAMs	TIGR03413. GSH_gloB. 1 hit.
ProtoNet	Search...
Other
NextBio	313119.
SOURCE	Search...

Entry information

Entry name

PNKD_MOUSE

Accession

Primary (citable) accession number: Q69ZP3
Secondary accession number(s): Q3TLE6 , Q6PD45, Q8BRV8, Q920D4, Q9CSF5, Q9D765, Q9JJA3

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	September 11, 2007
Last modified:	December 14, 2011
This is version 56 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program