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Q8N3J5

- PPM1K_HUMAN

UniProt

Q8N3J5 - PPM1K_HUMAN

Protein

Protein phosphatase 1K, mitochondrial

Gene

PPM1K

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 1 (01 Oct 2002)
      Previous versions | rss
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    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

    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. mitochondrial matrix Source: UniProtKB-SubCell
    2. mitochondrion Source: HPA

    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.
    GenevestigatoriQ8N3J5.

    Organism-specific databases

    HPAiHPA020066.
    HPA020862.
    HPA023891.

    Interactioni

    Protein-protein interaction databases

    BioGridi127472. 2 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.
    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

    MSTAALITLV RSGGNQVRRR VLLSSRLLQD DRRVTPTCHS STSEPRCSRF    50
    DPDGSGSPAT WDNFGIWDNR IDEPILLPPS IKYGKPIPKI SLENVGCASQ 100
    IGKRKENEDR FDFAQLTDEV LYFAVYDGHG GPAAADFCHT HMEKCIMDLL 150
    PKEKNLETLL TLAFLEIDKA FSSHARLSAD ATLLTSGTTA TVALLRDGIE 200
    LVVASVGDSR AILCRKGKPM KLTIDHTPER KDEKERIKKC GGFVAWNSLG 250
    QPHVNGRLAM TRSIGDLDLK TSGVIAEPET KRIKLHHADD SFLVLTTDGI 300
    NFMVNSQEIC DFVNQCHDPN EAAHAVTEQA IQYGTEDNST AVVVPFGAWG 350
    KYKNSEINFS FSRSFASSGR WA 372
    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. 2 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.
    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.
    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

    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 1, 2014
    This is version 102 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

    Dasty 3