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This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012] See more...
Aliases for PPM1K Gene
Aliases for PPM1K Gene
- Protein Phosphatase, Mg2+/Mn2+ Dependent 1K 2 3 5
- PP2C-Type Mitochondrial Phosphoprotein Phosphatase 2 3 4
- PP2C Domain-Containing Protein Phosphatase 1K 3 4
- Protein Phosphatase 1K, Mitochondrial 3 4
- Protein Phosphatase 2C Kappa 2 3
- EC 3.1.3.16 4 51
- PP2C-Kappa 3 4
- PP2Ckappa 2 3
- PP2Cm 2 3
- PTMP 3 4
- BDP 2 3
- Branched-Chain Alpha-Ketoacid Dehydrogenase Phosphatase 3
- Branched-Chain I+/--Ketoacid Dehydrogenase Phosphatase 3
- Branched-Chain Α-Ketoacid Dehydrogenase Phosphatase 2
- Protein Phosphatase 1K (PP2C Domain Containing) 2
- Protein Phosphatase, Mg2+/Mn2+ Dependent, 1K 2
- Protein Phosphatase 2C Isoform Kappa 4
- PP2C-Like Mitochondrial Protein 4
- DKFZp761G058 2
- UG0882E07 3
- MSUDMV 3
- PPM1K 5
- HPTMP 2
- PP2CM 4
External Ids for PPM1K Gene
- HGNC: 25415
- NCBI Entrez Gene: 152926
- Ensembl: ENSG00000163644
- OMIM®: 611065
- UniProtKB/Swiss-Prot: Q8N3J5
Previous GeneCards Identifiers for PPM1K Gene
- GC04M089541
- GC04M089402
- GC04M089178
- GC04M084932
Summaries for PPM1K Gene
-
This gene encodes a member of the PPM family of Mn2+/Mg2+-dependent protein phosphatases. The encoded protein, essential for cell survival and development, is targeted to the mitochondria where it plays a key role in regulation of the mitochondrial permeability transition pore. [provided by RefSeq, Sep 2012]
GeneCards Summary for PPM1K Gene
PPM1K (Protein Phosphatase, Mg2+/Mn2+ Dependent 1K) is a Protein Coding gene. Diseases associated with PPM1K include Maple Syrup Urine Disease, Mild Variant and Maple Syrup Urine Disease. Among its related pathways are Viral mRNA Translation and Valine, leucine and isoleucine degradation. Gene Ontology (GO) annotations related to this gene include protein serine/threonine phosphatase activity. An important paralog of this gene is PPM1L.
UniProtKB/Swiss-Prot Summary for PPM1K Gene
-
Regulates the mitochondrial permeability transition pore and is essential for cellular survival and development.
Additional gene information for PPM1K Gene
- HGNC (25415)
- NCBI Entrez Gene (152926)
- Ensembl (ENSG00000163644)
- OMIM® (611065)
- UniProtKB/Swiss-Prot (Q8N3J5)
- Open Targets Platform(ENSG00000163644)
- Monarch Initiative
- Search for PPM1K at DataMed
- Search for PPM1K at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPM1K Gene
Genomics for PPM1K Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for PPM1K Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around PPM1K on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPM1K
- Top Transcription factor binding sites by QIAGEN in the PPM1K gene promoter:
-
- CUTL1
- LUN-1
- NCX
- STAT1
- STAT1alpha
- STAT1beta
- STAT3
- TBP
- TFIID
Genomic Locations for PPM1K Gene
Latest Assembly
- chr4:88,257,617-88,284,769
- (GRCh38/hg38)
- Size:
- 27,153 bases
- Orientation:
- Minus strand
Previous Assembly
- chr4:89,178,772-89,205,713
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 26,942 bases
- Orientation:
- Minus strand
- chr4:89,178,772-89,205,921
- (GRCh37/hg19 by Ensembl)
- Size:
- 27,150 bases
- Orientation:
- Minus strand
Genomic View for PPM1K Gene
Genes around PPM1K on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 4q22.1 by HGNC
- 4q22.1 by Entrez Gene
- 4q22.1 by Ensembl
PPM1K Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PPM1K Gene
Proteins for PPM1K Gene
-
Protein details for PPM1K Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8N3J5-PPM1K_HUMAN
- Recommended name:
- Protein phosphatase 1K, mitochondrial
- Protein Accession:
- Q8N3J5
- B2RAZ1
- Q05CT5
- Q49AB5
- Q4W5E6
- Q56AN8
- Q8IUZ7
- Q8IXG7
- Q8ND70
- Q96NT4
Protein attributes for PPM1K Gene
- Size:
- 372 amino acids
- Molecular mass:
- 40997 Da
- Cofactor:
- Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
- Cofactor:
- Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
- Quaternary structure:
- No Data Available
Protein Expression for PPM1K Gene
Selected DME Specific Peptides for PPM1K Gene
- Q8N3J5:
-
- VNGRLAMTRSIGDLDLK
- SRFDPDGSG
- GDSRAILCR
- VYDGHGG
- PATWDNFGIWDNR
- LLTSGTTATVALLRDG
- DHTPERKDEKERIKK
- FLVLTTDGINF
- LPPSIKYGK
- LCRKGKPMKLT
- FGIWDNRIDEPI
- WNSLGQP
- VNSQEICD
- FASSGRW
- GKRKENEDRF
Post-translational modifications for PPM1K Gene
Other Protein References for PPM1K Gene
Antibodies for research
- G Biosciences Immunotag™ PPM1K Antibody
- Novus Biologicals Antibodies for PPM1K
-
Abcam antibodies for PPM1K
- Invitrogen Antibodies for PPM1K (AFLGC-PPM1K)
-
Custom Antibody ServicesProSci Antibodies for PPM1K
-
Santa Cruz Biotechnology (SCBT) Antibodies for PPM1K
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for PPM1K
- Origene Custom Protein Services for PPM1K
- antibodies-online: Show 6 available PPM1K Proteins ranked by validation data
- Compare Top PPM1K Proteins
-
Quality Products:
-
Abcam proteins for PPM1K
Assay products for research
Domains & Families for PPM1K Gene
Gene Families for PPM1K Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted intracellular proteins
Protein Domains for PPM1K Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for PPM1K Gene
- GenScript: Design optimal peptide antigens:
-
- Protein phosphatase 2C isoform kappa (PPM1K_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8N3J5- Family:
-
- Belongs to the PP2C family.
Function for PPM1K Gene
Molecular function for PPM1K Gene
- UniProtKB/Swiss-Prot Function:
- Regulates the mitochondrial permeability transition pore and is essential for cellular survival and development.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + O-phospho-L-seryl-[protein] = L-seryl-[protein] + phosphate; Xref=Rhea:RHEA:20629, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15377, ChEBI:CHEBI:29999, ChEBI:CHEBI:43474, ChEBI:CHEBI:83421; EC=3.1.3.16;.
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=H2O + O-phospho-L-threonyl-[protein] = L-threonyl-[protein] + phosphate; Xref=Rhea:RHEA:47004, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15377, ChEBI:CHEBI:30013, ChEBI:CHEBI:43474, ChEBI:CHEBI:61977; EC=3.1.3.16;.
- UniProtKB/Swiss-Prot BiophysicochemicalProperties:
- Kinetic parameters: KM=10.7 mM for p-nitrophenylphosphate {ECO:0000269|PubMed:17336929}; Vmax=3.6 umol/min/mg enzyme toward p-nitrophenylphosphate (at 30 degrees Celsius) {ECO:0000269|PubMed:17336929}; Vmax=4 nmol/min/mg enzyme toward branched-chain alpha-ketoacid dehydrogenase complex (at 37 degrees Celsius) {ECO:0000269|PubMed:17336929}; Note=Half maximal activity toward p-nitrophenylphosphate achieved with 3.7 mM of manganese ions.;
Enzyme Numbers (IUBMB) for PPM1K Gene
Phenotypes From GWAS Catalog for PPM1K Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003824 | catalytic activity | IEA | -- |
| GO:0004721 | phosphoprotein phosphatase activity | IEA | -- |
| GO:0004722 | protein serine/threonine phosphatase activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 25416956 |
| GO:0016787 | hydrolase activity | IEA | -- |
Phenotypes for PPM1K Gene
- MGI mutant phenotypes for PPM1K:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for PPM1K:
Animal Models for PPM1K Gene
- MGI Knock Outs for PPM1K:
-
- Ppm1k Ppm1k<tm1Yiwa>
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PPM1K - Starting at $85 >
- * PPM1K CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PPM1K
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPM1K
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPM1K
miRNA for PPM1K Gene
- miRTarBase miRNAs that target PPM1K
-
- mmu-miR-340-5p (MIRT010573)
- mmu-miR-24-3p (MIRT013934)
- mmu-miR-684 (MIRT581690)
- mmu-miR-1192 (MIRT581691)
- mmu-miR-495-3p (MIRT581692)
- mmu-miR-467f (MIRT581693)
- mmu-miR-466f-3p (MIRT581694)
- mmu-miR-669m-3p (MIRT581695)
- mmu-miR-466n-3p (MIRT581696)
- mmu-miR-467g (MIRT581697)
- mmu-miR-466d-3p (MIRT581698)
- mmu-miR-297b-3p (MIRT581699)
- mmu-miR-466a-3p (MIRT581700)
- mmu-miR-466e-3p (MIRT581701)
- mmu-miR-669f-3p (MIRT581702)
- mmu-miR-544-5p (MIRT589225)
- mmu-miR-706 (MIRT591756)
- mmu-miR-10b-5p (MIRT591757)
- mmu-miR-10a-5p (MIRT591758)
- mmu-miR-339-5p (MIRT591759)
- mmu-miR-431-5p (MIRT591760)
- mmu-miR-669e-5p (MIRT591761)
- mmu-miR-694 (MIRT591762)
- mmu-miR-743a-3p (MIRT595254)
- mmu-miR-743b-3p (MIRT595255)
- mmu-miR-335-3p (MIRT595256)
- mmu-miR-3097-3p (MIRT597703)
- mmu-miR-717 (MIRT597704)
- mmu-miR-329-3p (MIRT597705)
- mmu-miR-362-3p (MIRT597706)
- mmu-miR-1935 (MIRT601829)
- mmu-miR-298-5p (MIRT601830)
- mmu-miR-709 (MIRT601831)
- mmu-miR-1199-5p (MIRT601832)
- mmu-miR-1195 (MIRT601833)
- mmu-miR-5135 (MIRT601834)
- mmu-miR-3089-5p (MIRT601835)
- mmu-miR-3098-5p (MIRT603574)
- mmu-miR-3473d (MIRT603575)
- mmu-miR-674-5p (MIRT603576)
- mmu-miR-3072-3p (MIRT603578)
- mmu-miR-325-3p (MIRT603579)
- hsa-miR-8061 (MIRT622622)
- hsa-miR-4668-5p (MIRT622623)
- hsa-miR-4760-5p (MIRT622624)
- hsa-miR-376a-5p (MIRT622625)
- hsa-miR-4695-3p (MIRT654846)
- hsa-miR-1976 (MIRT654847)
- hsa-miR-3653-5p (MIRT654848)
- hsa-miR-6787-3p (MIRT654849)
- hsa-miR-1304-3p (MIRT654850)
- hsa-miR-6736-3p (MIRT654851)
- hsa-miR-6890-3p (MIRT654852)
- hsa-miR-2681-5p (MIRT715654)
- hsa-miR-668-3p (MIRT715655)
- hsa-miR-5571-5p (MIRT715656)
- hsa-miR-22-3p (MIRT735244)
- hsa-miR-204-3p (MIRT735245)
- hsa-miR-211-3p (MIRT735246)
- mmu-miR-211-5p (MIRT735247)
- mmu-miR-204-5p (MIRT735248)
- hsa-miR-1227-3p (MIRT761404)
- hsa-miR-1262 (MIRT761710)
- hsa-miR-1273g-3p (MIRT761973)
- hsa-miR-1281 (MIRT762148)
- hsa-miR-1282 (MIRT762161)
- hsa-miR-1292-3p (MIRT762312)
- hsa-miR-1827 (MIRT763091)
- hsa-miR-1910-3p (MIRT763324)
- hsa-miR-1915-3p (MIRT763430)
- hsa-miR-2467-3p (MIRT764119)
- hsa-miR-298 (MIRT764366)
- hsa-miR-3197 (MIRT765494)
- hsa-miR-3612 (MIRT765936)
- hsa-miR-3667-3p (MIRT766559)
- hsa-miR-377-5p (MIRT767450)
- hsa-miR-4252 (MIRT768028)
- hsa-miR-4257 (MIRT768156)
- hsa-miR-4279 (MIRT768332)
- hsa-miR-4327 (MIRT768683)
- hsa-miR-4459 (MIRT769319)
- hsa-miR-4485-5p (MIRT769617)
- hsa-miR-455-3p (MIRT770396)
- hsa-miR-4695-5p (MIRT771216)
- hsa-miR-4701-3p (MIRT771320)
- hsa-miR-4726-3p (MIRT771662)
- hsa-miR-4793-3p (MIRT772419)
- hsa-miR-498 (MIRT772856)
- hsa-miR-508-5p (MIRT773181)
- hsa-miR-542-3p (MIRT773970)
- hsa-miR-5707 (MIRT775250)
- hsa-miR-6086 (MIRT775581)
- hsa-miR-6499-3p (MIRT776338)
- hsa-miR-650 (MIRT776694)
- hsa-miR-6511a-5p (MIRT776823)
- hsa-miR-6512-3p (MIRT776931)
- hsa-miR-6516-5p (MIRT777190)
- hsa-miR-661 (MIRT777452)
- hsa-miR-665 (MIRT777594)
- hsa-miR-670-3p (MIRT777665)
- hsa-miR-6720-5p (MIRT777777)
- hsa-miR-6734-3p (MIRT778017)
- hsa-miR-6736-5p (MIRT778071)
- hsa-miR-6742-3p (MIRT778147)
- hsa-miR-6764-5p (MIRT778519)
- hsa-miR-6771-3p (MIRT778643)
- hsa-miR-6776-5p (MIRT778758)
- hsa-miR-6778-3p (MIRT778822)
- hsa-miR-6807-5p (MIRT779599)
- hsa-miR-6840-3p (MIRT780163)
- hsa-miR-766-3p (MIRT781888)
- hsa-miR-7703 (MIRT782042)
- hsa-miR-129-5p (MIRT783572)
- hsa-miR-3167 (MIRT784724)
- hsa-miR-7850-5p (MIRT789574)
- hsa-miR-876-5p (MIRT789887)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PPM1K
- Browse OriGene Inhibitory RNA Products For PPM1K
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPM1K
Clone products for research
- Applied Biological Materials (abm): Clones for PPM1K - Starting at $45 >
- * PPM1K as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PPM1K
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPM1K
Cell Lines for research
-
Horizon Cell Lines for PPM1K
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PPM1K Gene
Localization for PPM1K Gene
Subcellular locations from UniProtKB/Swiss-Prot for PPM1K Gene
- Mitochondrion matrix.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005739 | mitochondrion | IDA | -- |
| GO:0005759 | mitochondrial matrix | TAS | -- |
Pathways & Interactions for PPM1K Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Valine, leucine and isoleucine degradation | ||
| 2 | Metabolism |
.40
|
|
| 3 | Viral mRNA Translation | ||
Pathways by source for PPM1K Gene
3 Reactome pathways for PPM1K Gene
Interacting Proteins for PPM1K Gene
Selected Interacting proteins:
Q8N3J5-PPM1K_HUMAN
ENSP00000477341
for PPM1K Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for PPM1K
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006470 | protein dephosphorylation | IEA | -- |
| GO:0009083 | branched-chain amino acid catabolic process | TAS | -- |
| GO:0016311 | dephosphorylation | IEA | -- |
Transcripts for PPM1K Gene
mRNA/cDNA for PPM1K Gene
- 1 REFSEQ mRNAs :
- 15 NCBI additional mRNA sequence :
- 10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000295908 1940 nts (view in UCSC)
- ENST00000505022 566 nts (view in UCSC)
- ENST00000506423 1091 nts (view in UCSC)
- ENST00000508256 923 nts (view in UCSC)
- ENST00000509340 563 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for PPM1K - Starting at $85 >
- * PPM1K CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for PPM1K
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPM1K
-
Santa Cruz Biotechnology (SCBT) CRISPR for PPM1K
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for PPM1K
- Browse OriGene Inhibitory RNA Products For PPM1K
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPM1K
Clone products for research
- Applied Biological Materials (abm): Clones for PPM1K - Starting at $45 >
- * PPM1K as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for PPM1K
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPM1K
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b | · | 9c | ^ | 10 | ^ | 11a | · | 11b | · | 11c | ^ | 12a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - |
| ExUns: | 12b |
|---|---|
| SP1: | |
| SP2: | |
| SP3: | |
| SP4: | |
| SP5: | |
| SP6: | |
| SP7: | |
| SP8: | |
| SP9: | |
| SP10: | |
| SP11: | |
| SP12: |
Relevant External Links for PPM1K Gene
- GeneLoc Exon Structure for
- PPM1K
Expression for PPM1K Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Mature B-Cells Peripheral Blood
-
Testis (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for PPM1K Gene
This gene is overexpressed in Heart - Left Ventricle (x6.5).
This gene is overexpressed in Heart (34.4), Pancreas (15.7), and Skin (9.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PPM1K Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPM1K
SOURCE GeneReport for Unigene cluster for PPM1K Gene:
Hs.43744Evidence on tissue expression from TISSUES for PPM1K Gene
- Nervous system(4.6)
- Pancreas(4.3)
- Lymph node(4.2)
- Heart(3)
- Muscle(2.7)
Phenotype-based relationships between genes and organs from Gene ORGANizer for PPM1K Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- nervous
- respiratory
- skeletal muscle
Regions:
Head and neck:
- brain
- ear
- head
Thorax:
- diaphragm
- esophagus
- heart
- lung
Abdomen:
- adrenal gland
- pancreas
- stomach
General:
- blood
- peripheral nerve
- peripheral nervous system
- skin
- sweat gland
- white blood cell
Primer products for research
-
OriGene qPCR primer pairs for PPM1K
-
OriGene qPCR primer pairs and template standards for PPM1K
Gene Expression Assays for research
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PPM1K Gene
Orthologs for PPM1K Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | PPM1K 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | PPM1K 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | PPM1K 30 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | PPM1K 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Ppm1k 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Ppm1k 30 |
|
||
| Chicken (Gallus gallus) |
Aves | PPM1K 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | PPM1K 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100487567 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | ppm1k 31 |
|
OneToMany | |
| PPM1K (2 of 2) 31 |
|
OneToMany | |||
| si:ch211-149b19.3 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10186 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PTC1 31 |
|
OneToMany | |
| PTC6 33 |
|
|
|||
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G78200 30 |
|
- Species where no ortholog for PPM1K was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Platypus (Ornithorhynchus anatinus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Squirt (Ciona savignyi)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for PPM1K Gene
- ENSEMBL:
- Gene Tree for PPM1K (if available)
- TreeFam:
- Gene Tree for PPM1K (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for PPM1K: view image
Paralogs for PPM1K Gene
Variants for PPM1K Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPM1K Gene
| SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 835720 | Uncertain Significance: Maple syrup urine disease, mild variant | 88,278,273(-) |
C/T NM_152542.5(PPM1K):c.311G>A (p.Arg104Gln) |
MISSENSE | |
| 857355 | Uncertain Significance: Maple syrup urine disease, mild variant | 88,265,017(-) |
T/C NM_152542.5(PPM1K):c.971A>G (p.His324Arg) |
MISSENSE | |
| 860430 | Uncertain Significance: Maple syrup urine disease, mild variant | 88,277,209(-) |
G/C NM_152542.5(PPM1K):c.475C>G (p.Leu159Val) |
MISSENSE | |
| 939984 | Uncertain Significance: Maple syrup urine disease, mild variant | 88,277,158(-) |
G/A NM_152542.5(PPM1K):c.526C>T (p.Arg176Cys) |
MISSENSE | |
| 949421 | Uncertain Significance: Maple syrup urine disease, mild variant | 88,278,196(-) |
C/T NM_152542.5(PPM1K):c.388G>A (p.Gly130Ser) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2759266 | CNV | gain | 17122850 |
| esv3575758 | CNV | gain | 25503493 |
| nsv474553 | CNV | novel sequence insertion | 20440878 |
Residual Variation Intolerance Score:
38% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.75;
46.91% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PPM1K Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPM1K Gene
Disorders for PPM1K Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| maple syrup urine disease, mild variant |
|
|
| maple syrup urine disease |
|
|
| intermediate maple syrup urine disease |
|
|
| branched-chain keto acid dehydrogenase kinase deficiency |
|
|
| inflammatory bowel disease 7 |
|
|
Search PPM1K in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
PPM1K_HUMAN- 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. {ECO:0000269 PubMed:23086801}. Note=The gene represented in this entry is involved in disease pathogenesis.
Additional Disease Information for PPM1K
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for PPM1K Gene
Publications for PPM1K Gene
- A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM1K gene causes a mild variant phenotype of maple syrup urine disease. (PMID: 23086801) Oyarzabal A … Rodríguez-Pombo P (Human mutation 2013) 4 74
- Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PMID: 22286219) Kettunen J … Ripatti S (Nature genetics 2012) 3 41
- Structural and biochemical characterization of human mitochondrial branched-chain α-ketoacid dehydrogenase phosphatase. (PMID: 22291014) Wynn RM … Chuang DT (The Journal of biological chemistry 2012) 2 3
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
- Screening for replication of genome-wide SNP associations in sporadic ALS. (PMID: 18987618) Cronin S … Hardiman O (European journal of human genetics : EJHG 2009) 3 41
ExternalLinks
Products for PPM1K Gene
- Custom Antibody Services
- Browse OriGene ELISA Kits
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
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- Novus Biologicals proteins and lysates for PPM1K
- Browse Antibodies
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- VectorBuilder Custom and pre-made DNA vectors for PPM1K (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for PPM1K (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for PPM1K (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for PPM1K CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for PPM1K
- antibodies-online: Show 9 available PPM1K Antibodies ranked by validation data
- Compare Top PPM1K Antibodies
- antibodies-online: Search results for available PPM1K related products ranked by validation data
- antibodies-online: Show 6 available PPM1K Proteins ranked by validation data
- Compare Top PPM1K Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for PPM1K
- Search Santa Cruz Biotechnology (SCBT) for PPM1K siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for PPM1K
- Custom Antibody ServicesProSci Antibodies for PPM1K
- Search for PPM1K Proteins at ProSci
- Horizon Cell Lines for PPM1K
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for PPM1K
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for PPM1K
- Search GeneCopoeia for miRNA 3'UTR Target clone products for PPM1K
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPM1K
Sources for PPM1K Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB