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Aliases for PANK3 Gene

Aliases for PANK3 Gene

  • Pantothenate Kinase 3 2 3 5
  • Pantothenic Acid Kinase 3 3 4
  • EC 2.7.1.33 4 56
  • HPanK3 3 4

External Ids for PANK3 Gene

Previous GeneCards Identifiers for PANK3 Gene

  • GC05M168623
  • GC05M167918
  • GC05M167963
  • GC05M167915
  • GC05M163081
  • GC05M167975

Summaries for PANK3 Gene

Entrez Gene Summary for PANK3 Gene

  • 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 biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is expressed most abundantly in the liver. [provided by RefSeq, Jul 2008]

GeneCards Summary for PANK3 Gene

PANK3 (Pantothenate Kinase 3) is a Protein Coding gene. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Metabolism. Gene Ontology (GO) annotations related to this gene include pantothenate kinase activity. An important paralog of this gene is PANK2.

UniProtKB/Swiss-Prot for PANK3 Gene

  • Plays a role in the physiological regulation of the intracellular CoA concentration.

Additional gene information for PANK3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PANK3 Gene

Genomics for PANK3 Gene

GeneHancer (GH) Regulatory Elements for PANK3 Gene

Promoters and enhancers for PANK3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I168577 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 557.2 +0.4 437 4 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A ZNF2 ZBTB7B IRF4 PANK3 FBLL1 GC05M168564
GH05I168581 Enhancer 0.7 ENCODE 550.8 -1.7 -1658 0.1 PKNOX1 ATF1 ZNF766 VEZF1 ZNF639 STAT1 RFX1 ZNF740 E2F5 SIX5 PANK3 RPL10P9
GH05I168793 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 14.8 -214.6 -214597 1.6 ATF1 GLI4 GLIS2 ATF7 KLF13 SP3 REST TSHZ1 ZNF518A NFIL3 ENSG00000254192 RARS PANK3 MIR218-2 ENSG00000202345 LOC105377713 SLIT3
GH05I168485 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.6 +92.7 92675 2.2 PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 RARS FBLL1 ENSG00000254192 PANK3
GH05I168624 Enhancer 1.1 FANTOM5 ENCODE 10.8 -45.4 -45439 1.5 FOXA2 MLX ARID4B ZNF48 YY1 ATF7 RXRA MIER2 REST KAT8 SLIT3 ENSG00000254192 PANK3 LOC101927969 FBLL1 RPL10P9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PANK3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PANK3 gene promoter:

Genomic Locations for PANK3 Gene

Genomic Locations for PANK3 Gene
chr5:168,548,495-168,579,609
(GRCh38/hg38)
Size:
31,115 bases
Orientation:
Minus strand
chr5:167,975,500-168,006,614
(GRCh37/hg19)

Genomic View for PANK3 Gene

Genes around PANK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PANK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PANK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PANK3 Gene

Proteins for PANK3 Gene

  • Protein details for PANK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H999-PANK3_HUMAN
    Recommended name:
    Pantothenate kinase 3
    Protein Accession:
    Q9H999
    Secondary Accessions:
    • D3DQL1
    • Q53FJ9
    • Q7RTX4

    Protein attributes for PANK3 Gene

    Size:
    370 amino acids
    Molecular mass:
    41094 Da
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for PANK3 Gene

neXtProt entry for PANK3 Gene

Selected DME Specific Peptides for PANK3 Gene

Q9H999:
  • FIQMGRDKNFS
  • TGIRDVHLELK
  • FPWFGMDIGGTLVKL
  • DIYGGDYERFGL
  • SMKLLAYA
  • LLAYALDYWSKGQLKALF
  • LKSIRKYLTSN
  • FEEALEMA

Post-translational modifications for PANK3 Gene

Other Protein References for PANK3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PANK3 Gene

Gene Families for PANK3 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PANK3 Gene

Suggested Antigen Peptide Sequences for PANK3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H999

UniProtKB/Swiss-Prot:

PANK3_HUMAN :
  • Belongs to the type II pantothenate kinase family.
Family:
  • Belongs to the type II pantothenate kinase family.
genes like me logo Genes that share domains with PANK3: view

Function for PANK3 Gene

Molecular function for PANK3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + (R)-pantothenate = ADP + (R)-4-phosphopantothenate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by feedback inhibition by CoA and its thioesters.
UniProtKB/Swiss-Prot Function:
Plays a role in the physiological regulation of the intracellular CoA concentration.

Enzyme Numbers (IUBMB) for PANK3 Gene

Gene Ontology (GO) - Molecular Function for PANK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004594 pantothenate kinase activity IEA --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PANK3: view
genes like me logo Genes that share phenotypes with PANK3: view

Animal Models for PANK3 Gene

MGI Knock Outs for PANK3:

miRNA for PANK3 Gene

miRTarBase miRNAs that target PANK3

Clone Products

  • Addgene plasmids for PANK3

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PANK3 Gene

Localization for PANK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PANK3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PANK3 gene
Compartment Confidence
cytosol 3
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PANK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PANK3: view

Pathways & Interactions for PANK3 Gene

genes like me logo Genes that share pathways with PANK3: view

UniProtKB/Swiss-Prot Q9H999-PANK3_HUMAN

  • Pathway: Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 1/5.

Gene Ontology (GO) - Biological Process for PANK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015937 coenzyme A biosynthetic process IEA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with PANK3: view

No data available for SIGNOR curated interactions for PANK3 Gene

Drugs & Compounds for PANK3 Gene

(2) Drugs for PANK3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pantothenic acid Approved, Vet_approved Nutra 26
ATP Investigational Nutra Agonist 0

(6) Additional Compounds for PANK3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4-Phosphopantothenoylcysteine
  • (R)-4'-phospho-N-pantothenoyl-L-cysteine
  • (R)-N-[N-[2-hydroxy-3,3-dimethyl-1-oxo-4-(phosphonooxy)butyl]-b-alanyl]-L-Cysteine
  • (R)-N-[N-[2-hydroxy-3,3-dimethyl-1-oxo-4-(phosphonooxy)butyl]-beta-alanyl]-L-Cysteine
  • 4'-P-N-Pantothenoylcysteine
  • 4'-Phospho-N-pantothenoylcysteine
7196-09-0
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
D-4'-Phosphopantothenate
  • (R)-4'-phosphopantothenate
  • 4'-P-Pantothenate
  • 4'-Phosphopantothenate
  • D-4'-Phosphopantothenate
  • D-4'-Phosphopantothenic acid
D-Pantothenoyl-L-cysteine
  • N-((R)-Pantothenoyl)-L-cysteine
  • N-Pantothenoylcystein
pantetheine
  • (R)-Pantetheine
  • D-Pantetheine
  • Lactobacillus bulgaricus factor
  • LBF
  • Pantotheine
496-65-1
genes like me logo Genes that share compounds with PANK3: view

Transcripts for PANK3 Gene

mRNA/cDNA for PANK3 Gene

Unigene Clusters for PANK3 Gene

Pantothenate kinase 3:
Representative Sequences:

Clone Products

  • Addgene plasmids for PANK3

Alternative Splicing Database (ASD) splice patterns (SP) for PANK3 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8
SP1: -
SP2:

Relevant External Links for PANK3 Gene

GeneLoc Exon Structure for
PANK3
ECgene alternative splicing isoforms for
PANK3

Expression for PANK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PANK3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PANK3 Gene

This gene is overexpressed in Bone (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PANK3 Gene



Protein tissue co-expression partners for PANK3 Gene

NURSA nuclear receptor signaling pathways regulating expression of PANK3 Gene:

PANK3

SOURCE GeneReport for Unigene cluster for PANK3 Gene:

Hs.388400

mRNA Expression by UniProt/SwissProt for PANK3 Gene:

Q9H999-PANK3_HUMAN
Tissue specificity: Highly expressed in the liver.

Evidence on tissue expression from TISSUES for PANK3 Gene

  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with PANK3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PANK3 Gene

Orthologs for PANK3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PANK3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PANK3 33 34
  • 99.91 (n)
oppossum
(Monodelphis domestica)
Mammalia PANK3 34
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PANK3 34
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PANK3 33 34
  • 95.68 (n)
cow
(Bos Taurus)
Mammalia PANK3 33 34
  • 94.23 (n)
mouse
(Mus musculus)
Mammalia Pank3 33 16 34
  • 93.33 (n)
rat
(Rattus norvegicus)
Mammalia Pank3 33
  • 93.06 (n)
chicken
(Gallus gallus)
Aves PANK3 33 34
  • 85.59 (n)
lizard
(Anolis carolinensis)
Reptilia PANK3 34
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pank3 33
  • 79.64 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6777 33
zebrafish
(Danio rerio)
Actinopterygii pank2 34
  • 67 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta fbl 34
  • 44 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pnk-4 34
  • 12 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAB1 34
  • 31 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.8793 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToMany
Species where no ortholog for PANK3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PANK3 Gene

ENSEMBL:
Gene Tree for PANK3 (if available)
TreeFam:
Gene Tree for PANK3 (if available)

Paralogs for PANK3 Gene

Paralogs for PANK3 Gene

(3) SIMAP similar genes for PANK3 Gene using alignment to 2 proteins:

Pseudogenes.org Pseudogenes for PANK3 Gene

genes like me logo Genes that share paralogs with PANK3: view

Variants for PANK3 Gene

Sequence variations from dbSNP and Humsavar for PANK3 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000036735 -- 168,558,903(-) G/A intron_variant
rs1000169789 -- 168,579,573(-) G/A 5_prime_UTR_variant
rs1000254883 -- 168,566,508(-) G/A/C intron_variant
rs1000402195 -- 168,579,534(-) C/A/G 5_prime_UTR_variant
rs1000672967 -- 168,571,507(-) A/G intron_variant

Variation tolerance for PANK3 Gene

Residual Variation Intolerance Score: 41% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.30; 76.58% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PANK3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PANK3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for PANK3 Gene

Disorders for PANK3 Gene

Additional Disease Information for PANK3

No disorders were found for PANK3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PANK3 Gene

Publications for PANK3 Gene

  1. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. (PMID: 11479594) Zhou B … Hayflick SJ (Nature genetics 2001) 2 3 4 58
  2. Crystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorder. (PMID: 17631502) Hong BS … Park HW (The Journal of biological chemistry 2007) 3 4 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Allosteric Regulation of Mammalian Pantothenate Kinase. (PMID: 27555321) Subramanian C … Rock CO (The Journal of biological chemistry 2016) 3 58

Products for PANK3 Gene

Sources for PANK3 Gene

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