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Q8N3J5

- PPM1K_HUMAN

UniProt

Q8N3J5 - PPM1K_HUMAN

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Protein

Protein phosphatase 1K, mitochondrial

Gene

PPM1K

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Regulates the mitochondrial permeability transition pore and is essential for cellular survival and development.1 Publication

Catalytic activityi

[a protein]-serine/threonine phosphate + H2O = [a protein]-serine/threonine + phosphate.

Cofactori

Binds 1 magnesium or manganese ion per subunit.

Kineticsi

Half maximal activity toward p-nitrophenylphosphate achieved with 3.7 mM of manganese ions.

  1. KM=10.7 mM for p-nitrophenylphosphate1 Publication

Vmax=3.6 µmol/min/mg enzyme toward p-nitrophenylphosphate (at 30 degrees Celsius)1 Publication

Vmax=4 nmol/min/mg enzyme toward branched-chain alpha-ketoacid dehydrogenase complex (at 37 degrees Celsius)1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Metal bindingi127 – 1271Magnesium
Metal bindingi128 – 1281Magnesium; via carbonyl oxygen
Metal bindingi337 – 3371Magnesium

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. protein serine/threonine phosphatase activity Source: InterPro

GO - Biological processi

  1. protein dephosphorylation Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protein phosphatase

Keywords - Ligandi

Magnesium, Manganese, Metal-binding

Enzyme and pathway databases

BRENDAi3.1.3.16. 2681.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein phosphatase 1K, mitochondrial (EC:3.1.3.16)
Alternative name(s):
PP2C domain-containing protein phosphatase 1K
PP2C-like mitochondrial protein
PP2C-type mitochondrial phosphoprotein phosphatase
Short name:
PTMP
Protein phosphatase 2C isoform kappa
Short name:
PP2C-kappa
Gene namesi
Name:PPM1K
Synonyms:PP2CM
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:25415. PPM1K.

Subcellular locationi

Mitochondrion matrix 2 Publications

GO - Cellular componenti

  1. mitochondrion Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Involvement in diseasei

Maple syrup urine disease, mild variant (MSUDMV) [MIM:615135]: A mild form of maple syrup urine disease, a metabolic disorder due to an enzyme defect in the catabolic pathway of the branched-chain amino acids leucine, isoleucine, and valine. Accumulation of these 3 amino acids and their corresponding keto acids leads to encephalopathy and progressive neurodegeneration. Clinical features include mental and physical retardation, feeding problems, and a maple syrup odor to the urine. The keto acids of the branched-chain amino acids are present in the urine. If untreated, maple syrup urine disease can lead to seizures, coma, and death. The disease is often classified by its pattern of signs and symptoms. The most common and severe form of the disease is the classic type, which becomes apparent soon after birth. Variant forms of the disorder become apparent later in infancy or childhood and are typically milder, but they still involve developmental delay and other medical problems if not treated. MSUDMV is characterized by increased plasma levels of branched-chain amino acids (BCAA) apparent at birth. Treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes.1 Publication
Note: The gene represented in this entry is involved in disease pathogenesis.

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi298 – 2981D → A: Loss of activity. 1 Publication

Organism-specific databases

MIMi615135. phenotype.
Orphaneti268162. Intermediate maple syrup urine disease.
PharmGKBiPA134912083.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 2929Mitochondrion1 PublicationAdd
BLAST
Chaini30 – 372343Protein phosphatase 1K, mitochondrialPRO_0000278208Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei248 – 2481PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8N3J5.
PRIDEiQ8N3J5.

PTM databases

PhosphoSiteiQ8N3J5.

Expressioni

Gene expression databases

BgeeiQ8N3J5.
ExpressionAtlasiQ8N3J5. baseline and differential.
GenevestigatoriQ8N3J5.

Organism-specific databases

HPAiHPA020066.
HPA020862.
HPA023891.

Interactioni

Protein-protein interaction databases

BioGridi127472. 5 interactions.
IntActiQ8N3J5. 1 interaction.
MINTiMINT-4725175.

Structurei

Secondary structure

1
372
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi92 – 943
Beta strandi96 – 1005
Beta strandi103 – 1064
Beta strandi109 – 1157
Beta strandi117 – 13115
Helixi133 – 14917
Turni150 – 1523
Helixi156 – 17621
Helixi183 – 1853
Beta strandi190 – 1967
Turni197 – 1993
Beta strandi200 – 2089
Beta strandi210 – 2156
Beta strandi218 – 2214
Helixi231 – 2399
Beta strandi244 – 2463
Beta strandi252 – 2543
Turni255 – 2573
Helixi267 – 2693
Turni270 – 2734
Beta strandi279 – 2846
Turni287 – 2893
Beta strandi290 – 2967
Helixi298 – 3014
Helixi306 – 3149
Beta strandi316 – 3183
Helixi319 – 33214
Beta strandi339 – 3457

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
2IQ1X-ray2.25A89-351[»]
4DA1X-ray2.38A84-360[»]
ProteinModelPortaliQ8N3J5.
SMRiQ8N3J5. Positions 90-349.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8N3J5.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini93 – 346254PP2C-likeAdd
BLAST

Sequence similaritiesi

Belongs to the PP2C family.Curated
Contains 1 PP2C-like domain.Curated

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG0631.
GeneTreeiENSGT00740000114971.
HOVERGENiHBG096199.
InParanoidiQ8N3J5.
KOiK17505.
OMAiIVPFGAW.
OrthoDBiEOG7992QN.
PhylomeDBiQ8N3J5.
TreeFamiTF354344.

Family and domain databases

Gene3Di3.60.40.10. 1 hit.
InterProiIPR001932. PP2C-like_dom.
IPR000222. PP2C_Mn2_Asp60_BS.
IPR015655. Protein_Pase_2C.
[Graphical view]
PANTHERiPTHR13832. PTHR13832. 1 hit.
PfamiPF00481. PP2C. 1 hit.
[Graphical view]
SMARTiSM00331. PP2C_SIG. 1 hit.
SM00332. PP2Cc. 1 hit.
[Graphical view]
SUPFAMiSSF81606. SSF81606. 1 hit.
PROSITEiPS01032. PP2C. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8N3J5-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MSTAALITLV RSGGNQVRRR VLLSSRLLQD DRRVTPTCHS STSEPRCSRF
60 70 80 90 100
DPDGSGSPAT WDNFGIWDNR IDEPILLPPS IKYGKPIPKI SLENVGCASQ
110 120 130 140 150
IGKRKENEDR FDFAQLTDEV LYFAVYDGHG GPAAADFCHT HMEKCIMDLL
160 170 180 190 200
PKEKNLETLL TLAFLEIDKA FSSHARLSAD ATLLTSGTTA TVALLRDGIE
210 220 230 240 250
LVVASVGDSR AILCRKGKPM KLTIDHTPER KDEKERIKKC GGFVAWNSLG
260 270 280 290 300
QPHVNGRLAM TRSIGDLDLK TSGVIAEPET KRIKLHHADD SFLVLTTDGI
310 320 330 340 350
NFMVNSQEIC DFVNQCHDPN EAAHAVTEQA IQYGTEDNST AVVVPFGAWG
360 370
KYKNSEINFS FSRSFASSGR WA
Length:372
Mass (Da):40,997
Last modified:October 1, 2002 - v1
Checksum:i9DD37EEC0EAD3313
GO
Isoform 2 (identifier: Q8N3J5-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     181-233: ATLLTSGTTA...IDHTPERKDE → ENCAWSAALD...REGSHISLSH
     234-372: Missing.

Show »
Length:233
Mass (Da):25,692
Checksum:iEB90A7B3BC1BDD08
GO
Isoform 3 (identifier: Q8N3J5-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     148-150: DLL → YVQ
     151-372: Missing.

Show »
Length:150
Mass (Da):16,759
Checksum:i5433CAA1302FC04E
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti17 – 171V → A in AAX77016. (PubMed:17336929)Curated
Sequence conflicti194 – 1941L → I in AAX77016. (PubMed:17336929)Curated
Sequence conflicti211 – 2111A → V in AAH20850. (PubMed:15489334)Curated
Sequence conflicti264 – 2641I → V in BAB70790. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti26 – 261R → H.1 Publication
VAR_069736
Natural varianti94 – 941N → K.1 Publication
Corresponds to variant rs17853762 [ dbSNP | Ensembl ].
VAR_030691
Natural varianti321 – 3211E → K.
Corresponds to variant rs35523553 [ dbSNP | Ensembl ].
VAR_050621

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei148 – 1503DLL → YVQ in isoform 3. 1 PublicationVSP_023156
Alternative sequencei151 – 372222Missing in isoform 3. 1 PublicationVSP_023157Add
BLAST
Alternative sequencei181 – 23353ATLLT…ERKDE → ENCAWSAALDLEPVDTICGA SVEREICLILSQVKESSGSY PGLREGSHISLSH in isoform 2. 1 PublicationVSP_023158Add
BLAST
Alternative sequencei234 – 372139Missing in isoform 2. 1 PublicationVSP_023159Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY157615 mRNA. Translation: AAO17296.1.
AF351614 mRNA. Translation: AAN76514.1.
AY994097 mRNA. Translation: AAX77016.1.
AY435431 mRNA. Translation: AAR06213.1.
AK054678 mRNA. Translation: BAB70790.1.
AK314417 mRNA. Translation: BAG37038.1.
AL834167 mRNA. Translation: CAD38869.2.
AL834271 mRNA. Translation: CAD38946.1.
AC107067 Genomic DNA. Translation: AAY41021.1.
AC108213 Genomic DNA. No translation available.
CH471057 Genomic DNA. Translation: EAX06016.1.
BC020850 mRNA. Translation: AAH20850.1. Different termination.
BC037552 mRNA. Translation: AAH37552.1.
BC041350 mRNA. Translation: AAH41350.1.
CCDSiCCDS3629.1. [Q8N3J5-1]
RefSeqiNP_689755.3. NM_152542.4. [Q8N3J5-1]
XP_006714174.1. XM_006714111.1. [Q8N3J5-1]
UniGeneiHs.43744.

Genome annotation databases

EnsembliENST00000608933; ENSP00000477341; ENSG00000163644. [Q8N3J5-1]
GeneIDi152926.
KEGGihsa:152926.
UCSCiuc003hrm.5. human. [Q8N3J5-1]
uc003hrn.4. human. [Q8N3J5-2]

Polymorphism databases

DMDMi74750962.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AY157615 mRNA. Translation: AAO17296.1 .
AF351614 mRNA. Translation: AAN76514.1 .
AY994097 mRNA. Translation: AAX77016.1 .
AY435431 mRNA. Translation: AAR06213.1 .
AK054678 mRNA. Translation: BAB70790.1 .
AK314417 mRNA. Translation: BAG37038.1 .
AL834167 mRNA. Translation: CAD38869.2 .
AL834271 mRNA. Translation: CAD38946.1 .
AC107067 Genomic DNA. Translation: AAY41021.1 .
AC108213 Genomic DNA. No translation available.
CH471057 Genomic DNA. Translation: EAX06016.1 .
BC020850 mRNA. Translation: AAH20850.1 . Different termination.
BC037552 mRNA. Translation: AAH37552.1 .
BC041350 mRNA. Translation: AAH41350.1 .
CCDSi CCDS3629.1. [Q8N3J5-1 ]
RefSeqi NP_689755.3. NM_152542.4. [Q8N3J5-1 ]
XP_006714174.1. XM_006714111.1. [Q8N3J5-1 ]
UniGenei Hs.43744.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
2IQ1 X-ray 2.25 A 89-351 [» ]
4DA1 X-ray 2.38 A 84-360 [» ]
ProteinModelPortali Q8N3J5.
SMRi Q8N3J5. Positions 90-349.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127472. 5 interactions.
IntActi Q8N3J5. 1 interaction.
MINTi MINT-4725175.

PTM databases

PhosphoSitei Q8N3J5.

Polymorphism databases

DMDMi 74750962.

Proteomic databases

PaxDbi Q8N3J5.
PRIDEi Q8N3J5.

Protocols and materials databases

DNASUi 152926.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000608933 ; ENSP00000477341 ; ENSG00000163644 . [Q8N3J5-1 ]
GeneIDi 152926.
KEGGi hsa:152926.
UCSCi uc003hrm.5. human. [Q8N3J5-1 ]
uc003hrn.4. human. [Q8N3J5-2 ]

Organism-specific databases

CTDi 152926.
GeneCardsi GC04M089178.
HGNCi HGNC:25415. PPM1K.
HPAi HPA020066.
HPA020862.
HPA023891.
MIMi 611065. gene.
615135. phenotype.
neXtProti NX_Q8N3J5.
Orphaneti 268162. Intermediate maple syrup urine disease.
PharmGKBi PA134912083.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0631.
GeneTreei ENSGT00740000114971.
HOVERGENi HBG096199.
InParanoidi Q8N3J5.
KOi K17505.
OMAi IVPFGAW.
OrthoDBi EOG7992QN.
PhylomeDBi Q8N3J5.
TreeFami TF354344.

Enzyme and pathway databases

BRENDAi 3.1.3.16. 2681.

Miscellaneous databases

EvolutionaryTracei Q8N3J5.
GeneWikii PPM1K.
GenomeRNAii 152926.
NextBioi 87055.
PROi Q8N3J5.
SOURCEi Search...

Gene expression databases

Bgeei Q8N3J5.
ExpressionAtlasi Q8N3J5. baseline and differential.
Genevestigatori Q8N3J5.

Family and domain databases

Gene3Di 3.60.40.10. 1 hit.
InterProi IPR001932. PP2C-like_dom.
IPR000222. PP2C_Mn2_Asp60_BS.
IPR015655. Protein_Pase_2C.
[Graphical view ]
PANTHERi PTHR13832. PTHR13832. 1 hit.
Pfami PF00481. PP2C. 1 hit.
[Graphical view ]
SMARTi SM00331. PP2C_SIG. 1 hit.
SM00332. PP2Cc. 1 hit.
[Graphical view ]
SUPFAMi SSF81606. SSF81606. 1 hit.
PROSITEi PS01032. PP2C. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "A novel mitochondrial matrix serine/threonine protein phosphatase regulates the mitochondria permeability transition pore and is essential for cellular survival and development."
    Lu G., Ren S., Korge P., Choi J., Dong Y., Weiss J., Koehler C., Chen J.-N., Wang Y.
    Genes Dev. 21:784-796(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, SUBCELLULAR LOCATION, TRANSIT PEPTIDE CLEAVAGE SITE, MUTAGENESIS OF ASP-298.
  2. "Cloning and characterization of a novel human PP2C gene from fetal brain."
    Mao Y., Xie Y., Dai J.
    Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
  3. "Identification of a novel PP2C-type mitochondrial phosphatase."
    Joshi M.A., Jeoung N.H., Popov K.M., Harris R.A.
    Biochem. Biophys. Res. Commun. 356:38-44(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), SUBCELLULAR LOCATION, BIOPHYSICOCHEMICAL PROPERTIES.
  4. "Protein phosphatase 2C kappa is upregulated in heart failure and attenuates agonist-induced cardiomyocyte hypertrophy."
    Xu J., Stagliano N., Deponte J. III, Rodrigue-Way A., Golden S., Katz S., Jeyaseelan R., Donoghue M., Meyers R., Gottfried S., Wysong D., McGovern K., Pollman M., Breitbart R.E., Acton S.
    Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  5. "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: Cerebellum and Testis.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Amygdala and Lymph node.
  7. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. 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 AND 3), VARIANT LYS-94.
    Tissue: Pancreas and Testis.
  10. "A novel regulatory defect in the branched-chain alpha-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease."
    Oyarzabal A., Martinez-Pardo M., Merinero B., Navarrete R., Desviat L.R., Ugarte M., Rodriguez-Pombo P.
    Hum. Mutat. 34:355-362(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MSUDMV.
  11. Cited for: X-RAY CRYSTALLOGRAPHY (2.25 ANGSTROMS) OF 89-351, MAGNESIUM-BINDING.
  12. Cited for: VARIANT HIS-26.

Entry informationi

Entry nameiPPM1K_HUMAN
AccessioniPrimary (citable) accession number: Q8N3J5
Secondary accession number(s): B2RAZ1
, Q05CT5, Q49AB5, Q4W5E6, Q56AN8, Q8IUZ7, Q8IXG7, Q8ND70, Q96NT4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: October 1, 2002
Last modified: October 29, 2014
This is version 103 of the entry and version 1 of the sequence. [Complete history]
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.

Miscellaneousi

Caution

PubMed:18058037 has crystallized PPM1K in the presence of magnesium ions. However, PubMed:17336929 reported that no activity toward p-nitrophenylphosphate was seen in the absence of manganese ions and magnesium could not substitute for manganese.Curated

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  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

External Data

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