Q8N490 (PNKD_HUMAN) 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
Trans-activated by hepatitis C virus core protein 2

Gene names

Name:	PNKD
Synonyms:	KIAA1184, MR1, TAHCCP2
ORF Names:	FKSG19, UNQ2491/PRO5778

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	385 AA.
Sequence status	Complete.
Protein existence	Evidence at protein 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 By similarity.
Subunit structure	Isoform 2 interacts with the sarcomeric proteins, MRLC2, MYOM1 and ENO3. Ref.1
Subcellular location	Isoform 1: Membrane; Peripheral membrane protein. Isoform 2: Cytoplasm. Nucleus. Isoform 3: Mitochondrion.
Tissue specificity	Isoform 1 is only expressed in the brain. Isoform 2 is ubiquitously detected with highest expression in skeletal muscle and detected in myocardial myofibrils. Variant Val-7 and Val-9 are detected in the brain only. Ref.1 Ref.15 Ref.16
Induction	By Hepatitis C virus core protein. Ref.2
Post-translational modification	Isoform 2 is phosphorylated at Ser-121 upon DNA damage, probably by ATM or ATR.
Involvement in disease	Dystonia 8 (DYT8) [MIM:118800]: A paroxysmal non-kinesigenic dystonia/dyskinesia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 8 is characterized by attacks of involuntary movements brought on by stress, alcohol, fatigue or caffeine. The attacks generally last between a few seconds and four hours or longer. The attacks may begin in one limb and spread throughout the body, including the face. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.11 Ref.15 Ref.17 Ref.18 Ref.19
Sequence similarities	Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.

Ontologies

Keywords
Cellular component	Cytoplasm Membrane Mitochondrion Nucleus
Coding sequence diversity	Alternative splicing
Disease	Disease mutation Dystonia
Ligand	Metal-binding Zinc
Molecular function	Hydrolase
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	glutathione biosynthetic process Inferred from electronic annotation. Source: InterPro
Cellular_component	membrane Inferred from electronic annotation. Source: UniProtKB-SubCell mitochondrion Inferred from direct assay. Source: HPA 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: Q8N490-1)

Also known as: MR-1L;

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: Q8N490-2)

Also known as: MR-1S;

The sequence of this isoform differs from the canonical sequence as follows:
     80-142: YSLYTRTWLG...YLIIDTQAQL → AIGFPCGILL...SPDVGSGVQT
     143-385: Missing.

Isoform 3 (identifier: Q8N490-3)

Also known as: MR-1M;

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

Isoform 4 (identifier: Q8N490-4)

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: Missing.
     61-78: EYIPRKRGKNPMKAVGLA → MPSSVHHTKRQMMSIYCY

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 385	385	Probable hydrolase PNKD		PRO_0000299549
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 → MAWQGWPAAWQWVAGCWLLL VLVLVLLVSPRGCRARRGLR GLLMAHSQRLLFRIG in isoform 3.		VSP_027736
	Alternative sequence	1 – 60	60	Missing in isoform 4.		VSP_027737
	Alternative sequence	61 – 78	18	EYIPR…AVGLA → MPSSVHHTKRQMMSIYCY in isoform 4.		VSP_027738
	Alternative sequence	80 – 142	63	YSLYT…TQAQL → AIGFPCGILLFILTKREVDK DRVKQMKARQNMRLSNTGEY ESQRFRASSQSAPSPDVGSG VQT in isoform 2.		VSP_027739
	Alternative sequence	143 – 385	243	Missing in isoform 2.		VSP_027740
	Natural variant	7	1	A → V in DYT8. Ref.15 Ref.17 Ref.19		VAR_034844
	Natural variant	9	1	A → V in DYT8. Ref.15 Ref.17 Ref.18		VAR_034845
Experimental info
	Sequence conflict	12	1	G → S in AAH36457. Ref.9
	Sequence conflict	33	1	A → V in AAH36457. Ref.9
	Sequence conflict	47	1	P → S in AAH36457. Ref.9
	Sequence conflict	377	1	R → L in CAB70870. Ref.7

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 (MR-1L) [UniParc]. Last modified September 11, 2007. Version 2. Checksum: A4D631D3A4319A2C	FASTA	385	42,876
	10 20 30 40 50 60 MAAVVAATAL KGRGARNARV LRGILAGATA NKASHNRTRA LQSHSSPEGK EEPEPLSPEL 70 80 90 100 110 120 EYIPRKRGKN PMKAVGLAWY SLYTRTWLGY LFYRQQLRRA RNRYPKGHSK TQPRLFNGVK 130 140 150 160 170 180 VLPIPVLSDN YSYLIIDTQA QLAVAVDPSD PRAVQASIEK EGVTLVAILC THKHWDHSGG 190 200 210 220 230 240 NRDLSRRHRD CRVYGSPQDG IPYLTHPLCH QDVVSVGRLQ IRALATPGHT QGHLVYLLDG 250 260 270 280 290 300 EPYKGPSCLF SGDLLFLSGC GRTFEGNAET MLSSLDTVLG LGDDTLLWPG HEYAEENLGF 310 320 330 340 350 360 AGVVEPENLA RERKMQWVQR QRLERKGTCP STLGEERSYN PFLRTHCLAL QEALGPGPGP 370 380 TGDDDYSRAQ LLEELRRLKD MHKSK
	Isoform 2 (MR-1S) [UniParc]. Checksum: 21108BA446DB0BE2	FASTA	142	15,397
	10 20 30 40 50 60 MAAVVAATAL KGRGARNARV LRGILAGATA NKASHNRTRA LQSHSSPEGK EEPEPLSPEL 70 80 90 100 110 120 EYIPRKRGKN PMKAVGLAWA IGFPCGILLF ILTKREVDKD RVKQMKARQN MRLSNTGEYE 130 140 SQRFRASSQS APSPDVGSGV QT
	Isoform 3 (MR-1M) [UniParc]. Checksum: C615B7DE31B9E4F6	FASTA	361	40,747
	10 20 30 40 50 60 MAWQGWPAAW QWVAGCWLLL VLVLVLLVSP RGCRARRGLR GLLMAHSQRL LFRIGYSLYT 70 80 90 100 110 120 RTWLGYLFYR QQLRRARNRY PKGHSKTQPR LFNGVKVLPI PVLSDNYSYL IIDTQAQLAV 130 140 150 160 170 180 AVDPSDPRAV QASIEKEGVT LVAILCTHKH WDHSGGNRDL SRRHRDCRVY GSPQDGIPYL 190 200 210 220 230 240 THPLCHQDVV SVGRLQIRAL ATPGHTQGHL VYLLDGEPYK GPSCLFSGDL LFLSGCGRTF 250 260 270 280 290 300 EGNAETMLSS LDTVLGLGDD TLLWPGHEYA EENLGFAGVV EPENLARERK MQWVQRQRLE 310 320 330 340 350 360 RKGTCPSTLG EERSYNPFLR THCLALQEAL GPGPGPTGDD DYSRAQLLEE LRRLKDMHKS K
	Isoform 4 [UniParc]. Checksum: 40A100CAB88A9067	FASTA	325	36,849
	10 20 30 40 50 60 MPSSVHHTKR QMMSIYCYWY SLYTRTWLGY LFYRQQLRRA RNRYPKGHSK TQPRLFNGVK 70 80 90 100 110 120 VLPIPVLSDN YSYLIIDTQA QLAVAVDPSD PRAVQASIEK EGVTLVAILC THKHWDHSGG 130 140 150 160 170 180 NRDLSRRHRD CRVYGSPQDG IPYLTHPLCH QDVVSVGRLQ IRALATPGHT QGHLVYLLDG 190 200 210 220 230 240 EPYKGPSCLF SGDLLFLSGC GRTFEGNAET MLSSLDTVLG LGDDTLLWPG HEYAEENLGF 250 260 270 280 290 300 AGVVEPENLA RERKMQWVQR QRLERKGTCP STLGEERSYN PFLRTHCLAL QEALGPGPGP 310 320 TGDDDYSRAQ LLEELRRLKD MHKSK

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle." Li T.-B., Liu X.-H., Feng S., Hu Y., Yang W.-X., Han Y., Wang Y.-G., Gong L.-M. Acta Biochim. Biophys. Sin. 36:412-418(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), TISSUE SPECIFICITY, INTERACTION WITH MRLC2; MYOM1 AND ENO3.
[2]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INDUCTION.
[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]	"Identification of human genomic DNA structure of the gene trans-activated by hepatitis C virus core protein 2." Liu Y., Cheng J., Wang G., Li K., Dong J., Li L., Chen J., Zhang L. Submitted (JUN-2001) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 2).
[5]	"The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment." Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E. , Heldens S., Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M. Genome Res. 13:2265-2270(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
[6]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Caudate nucleus.
[7]	"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., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 4). Tissue: Brain.
[8]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2 AND 3). Tissue: Brain.
[10]	"Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain." Hirosawa M., Nagase T., Ishikawa K., Kikuno R., Nomura N., Ohara O. DNA Res. 6:329-336(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 6-385 (ISOFORM 1). Tissue: Brain.
[11]	"Genetic heterogeneity in paroxysmal nonkinesigenic dyskinesia." Spacey S.D., Adams P.J., Lam P.C., Materek L.A., Stoessl A.J., Snutch T.P., Hsiung G.Y. Neurology 66:1588-1590(2006) [PubMed] [Europe PMC] [Abstract] Cited for: INVOLVEMENT IN DYT8.
[12]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Embryonic kidney.
[13]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Tissue: Cervix carcinoma.
[14]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[15]	"Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis." Rainier S., Thomas D., Tokarz D., Ming L., Bui M., Plein E., Zhao X., Lemons R., Albin R., Delaney C., Alvarado D., Fink J.K. Arch. Neurol. 61:1025-1029(2004) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DYT8 VAL-7 AND VAL-9, TISSUE SPECIFICITY.
[16]	"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] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, ALTERNATIVE SPLICING.
[17]	"Presence of alanine-to-valine substitutions in myofibrillogenesis regulator 1 in paroxysmal nonkinesigenic dyskinesia: confirmation in 2 kindreds." Chen D.-H., Matsushita M., Rainier S., Meaney B., Tisch L., Feleke A., Wolff J., Lipe H., Fink J., Bird T.D., Raskind W.H. Arch. Neurol. 62:597-600(2005) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS DYT8 VAL-7 AND VAL-9.
[18]	"Clinical characteristics of paroxysmal nonkinesigenic dyskinesia in Serbian family with Myofibrillogenesis regulator 1 gene mutation." Stefanova E., Djarmati A., Momcilovic D., Dragasevic N., Svetel M., Klein C., Kostic V.S. Mov. Disord. 21:2010-2015(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT DYT8 VAL-9.
[19]	"Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia." Hempelmann A., Kumar S., Muralitharan S., Sander T. Neurosci. Lett. 402:118-120(2006) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT DYT8 VAL-7.
+	Additional computationally mapped references.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF417001 mRNA. Translation: AAL08573.1. AY039043 mRNA. Translation: AAK83449.1. AF318057 mRNA. Translation: AAL25716.1. AF390031 Genomic DNA. Translation: AAM73649.1. AY358753 mRNA. Translation: AAQ89113.1. AK289867 mRNA. Translation: BAF82556.1. AL080092 mRNA. Translation: CAB45707.2. AL137675 mRNA. Translation: CAB70870.2. CH471063 Genomic DNA. Translation: EAW70602.1. CH471063 Genomic DNA. Translation: EAW70604.1. BC002937 mRNA. Translation: AAH02937.1. BC021118 mRNA. Translation: AAH21118.1. BC036457 mRNA. Translation: AAH36457.1. AB033010 mRNA. Translation: BAA86498.1.
IPI	IPI00001022. IPI00030458. IPI00328714. IPI00855925.
PIR	T46495.
RefSeq	NP_001070867.1. NM_001077399.2. NP_056303.3. NM_015488.4. NP_072094.1. NM_022572.4.
UniGene	Hs.98475.
3D structure databases
ProteinModelPortal	Q8N490.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N490. 3 interactions.
MINT	MINT-1453480.
STRING	9606.ENSP00000273077.
PTM databases
PhosphoSite	Q8N490.
Polymorphism databases
DMDM	158563846.
Proteomic databases
PaxDb	Q8N490.
PRIDE	Q8N490.
Protocols and materials databases
DNASU	25953.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000248451; ENSP00000248451; ENSG00000127838. ENST00000258362; ENSP00000258362; ENSG00000127838. ENST00000273077; ENSP00000273077; ENSG00000127838. ENST00000436005; ENSP00000414400; ENSG00000127838.
GeneID	25953.
KEGG	hsa:25953.
UCSC	uc002vhm.2. human. uc002vhn.3. human. uc002vhq.3. human.
Organism-specific databases
CTD	25953.
GeneCards	GC02P219135.
HGNC	HGNC:9153. PNKD.
HPA	HPA010134. HPA017068.
MIM	118800. phenotype. 609023. gene.
neXtProt	NX_Q8N490.
Orphanet	98810. Paroxysmal non-kinesigenic dyskinesia.
PharmGKB	PA33476.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG0491.
HOVERGEN	HBG001152.
InParanoid	Q8N490.
OMA	HTVGHMI.
OrthoDB	EOG412M5W.
PhylomeDB	Q8N490.
Gene expression databases
Bgee	Q8N490.
CleanEx	HS_MR1. HS_PNKD.
Genevestigator	Q8N490.
Family and domain databases
Gene3D	3.60.15.10. 1 hit.
InterPro	IPR001279. Beta-lactamas-like. IPR017782. Hydroxyacylglutathione_Hdrlase. [Graphical view]
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
ChiTaRS	PNKD. human.
GenomeRNAi	25953.
NextBio	47556.
SOURCE	Search...

Entry information

Entry name

PNKD_HUMAN

Accession

Primary (citable) accession number: Q8N490
Secondary accession number(s): A8K1F2 , Q96A48, Q9BU26, Q9NSX4, Q9ULN6, Q9Y4T1

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 11, 2007
Last sequence update:	September 11, 2007
Last modified:	May 29, 2013
This is version 84 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.