• Gene id: 55229

Gene Summary

• Gene Symbol: PANK4   Gene   UCSC   Ensembl
• Gene name: pantothenate kinase 4 (inactive)
• Alternate names: 4'-phosphopantetheine phosphatase, inactive pantothenic acid kinase 4, pantothenic acid kinase 4,
• Gene location: 1p36.32 (2526621: 2508536)     Exons: 20     NC_000001.11
• Gene summary(Entrez): This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynt
• OMIM: 606596

Protein Summary

• Protein general information: Q9NVE7  
  • Name: 4' phosphopantetheine phosphatase (EC 3.1.3. ) (Inactive pantothenic acid kinase 4) (hPanK4)
  • Length: 773  
  • Mass: 85991
  • Tissue specificity: Ubiquitously expressed with higher expression in the muscle. {ECO
• Sequence:

  MAECGASGSGSSGDSLDKSITLPPDEIFRNLENAKRFAIDIGGSLTKLAYYSTVQHKVAKVRSFDHSGKDTEREH
  EPPYEISVQEEITARLHFIKFENTYIEACLDFIKDHLVNTETKVIQATGGGAYKFKDLIEEKLRLKVDKEDVMTC
  LIKGCNFVLKNIPHEAFVYQKDSDPEFRFQTNHPHIFPYLLVNIGSGVSIVKVETEDRFEWVGGSSIGGGTFWGL
  GALLTKTKKFDELLHLASRGQHSNVDMLVRDVYGGAHQTLGLSGNLIASSFGKSATADQEFSKEDMAKSLLHMIS
  NDIGQLACLHARLHSLDRVYFGGFFIRGHPVTMRTITYSINFFSKGEVQALFLRHEGYLGAIGAFLKGAEQDNPN
  QYSWGENYAGSSGLMSASPELGPAQRARSGTFDLLEMDRLERPLVDLPLLLDPPSYVPDTVDLTDDALARKYWLT
  CFEEALDGVVKRAVASQPDSVDAAERAEKFRQKYWNKLQTLRQQPFAYGTLTVRSLLDTREHCLNEFNFPDPYSK
  VKQRENGVALRCFPGVVRSLDALGWEERQLALVKGLLAGNVFDWGAKAVSAVLESDPYFGFEEAKRKLQERPWLV
  DSYSEWLQRLKGPPHKCALIFADNSGIDIILGVFPFVRELLLRGTEVILACNSGPALNDVTHSESLIVAERIAGM
  DPVVHSALQEERLLLVQTGSSSPCLDLSRLDKGLAALVRERGADLVVIEGMGRAVHTNYHAALRCESLKLAVIKN
  AWLAERLGGRLFSVIFKYEVPAE

• Structural information:
  • Interpro: IPR036075  IPR035073  IPR002791  IPR015844  IPR004567  
  • STRING: ENSP00000367727
• Other Databases: GeneCards:  PANK4  Malacards:  PANK4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0015937	coenzyme A biosynthetic process	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0015937	coenzyme A biosynthetic process	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0015937	coenzyme A biosynthetic process	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0004594	pantothenate kinase activity	IMP	NOT|molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00770	Pantothenate and CoA biosynthesis

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq