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 ex... See more...

Aliases for PANK3 Gene

Aliases for PANK3 Gene

  • Pantothenate Kinase 3 2 3 4 5
  • Pantothenic Acid Kinase 3 3 4
  • EC 2.7.1.33 4 51
  • HPanK3 3 4
  • FLJ12899 2
  • PANK3 5

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. Diseases associated with PANK3 include Neurodegeneration With Brain Iron Accumulation 1 and Neurodegeneration With Brain Iron Accumulation. Among its related pathways are Pantothenate and CoA biosynthesis and Metabolism of water-soluble vitamins and cofactors. Gene Ontology (GO) annotations related to this gene include pantothenate kinase activity. An important paralog of this gene is PANK2.

UniProtKB/Swiss-Prot Summary for PANK3 Gene

  • Plays a role in the physiological regulation of coenzyme A (CoA) levels.

Additional gene information for PANK3 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PANK3 Gene

Genomics for PANK3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PANK3 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 PANK3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PANK3

Top Transcription factor binding sites by QIAGEN in the PANK3 gene promoter:
  • Elk-1
  • ITF-2
  • NF-1
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c
  • Tal-1beta
  • TGIF
  • XBP-1

Genomic Locations for PANK3 Gene

Genomic Locations for PANK3 Gene
chr5:168,548,495-168,579,368
(GRCh38/hg38)
Size:
30,874 bases
Orientation:
Minus strand
chr5:167,975,500-168,006,614
(GRCh37/hg19)
Size:
31,115 bases
Orientation:
Minus strand

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

  • Ubiquitination at Lys71
  • Modification sites at PhosphoSitePlus

Other Protein References for PANK3 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PANK3 Gene

Gene Families for PANK3 Gene

Protein Domains for PANK3 Gene

InterPro:
Blocks:
  • Eukaryotic pantothenate kinase
  • Fumble
ProtoNet:

Suggested Antigen Peptide Sequences for PANK3 Gene

GenScript: Design optimal peptide antigens:
  • Pantothenic acid kinase 3 (PANK3_HUMAN)

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 Function:
Plays a role in the physiological regulation of coenzyme A (CoA) levels.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(R)-pantothenate + ATP = (R)-4'-phosphopantothenate + ADP + H(+); Xref=Rhea:RHEA:16373, ChEBI:CHEBI:10986, ChEBI:CHEBI:15378, ChEBI:CHEBI:29032, ChEBI:CHEBI:30616, ChEBI:CHEBI:456216; EC=2.7.1.33; Evidence={ECO:0000269|PubMed:30927326};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=175 uM for ATP {ECO:0000269|PubMed:30927326}; KM=17 uM for pantothenate {ECO:0000269|PubMed:30927326};
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by feedback inhibition by CoA and its thioesters.

Enzyme Numbers (IUBMB) for PANK3 Gene

Phenotypes From GWAS Catalog for PANK3 Gene

Gene Ontology (GO) - Molecular Function for PANK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0004594 pantothenate kinase activity IEA,IMP 17631502
GO:0005524 ATP binding IEA,IDA 20797618
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:
  • Pank3 Pank3<tm1b(KOMP)Mbp>
  • Pank3 Pank3<tm1.1Suja>

Animal Model Products

  • Taconic Biosciences Mouse Models for PANK3

CRISPR Products

miRNA for PANK3 Gene

miRTarBase miRNAs that target PANK3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PANK3

No data available for 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 5
nucleus 4
mitochondrion 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 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:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IBA,IDA 23152917
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.

Interacting Proteins for PANK3 Gene

Gene Ontology (GO) - Biological Process for PANK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015937 coenzyme A biosynthetic process IEA,IMP 20797618
GO:0016310 phosphorylation IEA,IMP 17631502
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

(3) Drugs for PANK3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pantothenic acid Approved, Vet_approved Nutra 26
Pantetheine 4'-phosphate Experimental Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
4'-Phosphopantothenoylcysteine
  • (R)-4'-Phosphopantothenoyl-L-cysteine
  • N-((R)-4'-Phosphopantothenoyl)-L-cysteine
  • N-[(R)-4'-Phosphopantothenoyl]-L-cysteine
  • (R)-4'-phospho-N-Pantothenoyl-L-cysteine
  • (R)-N-[N-[2-Hydroxy-3,3-dimethyl-1-oxo-4-(phosphonooxy)butyl]-b-alanyl]-L-cysteine
7196-09-0
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
D-4'-Phosphopantothenate
  • (R)-4'-Phosphopantothenate
  • 4'-P-Pantothenate
  • 4'-Phosphopantothenate
  • D-4'-Phosphopantothenic acid
  • 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

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for PANK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for PANK3 Gene



Protein tissue co-expression partners for PANK3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(3.8)
  • Liver(2.7)
  • Kidney(2.3)
  • Heart(2.2)
  • Muscle(2)
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 30 31
  • 99.91 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PANK3 31
  • 97 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PANK3 31
  • 97 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia PANK3 30 31
  • 95.68 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PANK3 30 31
  • 94.23 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pank3 30 17 31
  • 93.33 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pank3 30
  • 93.06 (n)
Chicken
(Gallus gallus)
Aves PANK3 30 31
  • 85.59 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PANK3 31
  • 96 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pank3 30
  • 79.64 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6777 30
Zebrafish
(Danio rerio)
Actinopterygii pank2 31
  • 67 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta fbl 31
  • 44 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea pnk-4 31
  • 12 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAB1 31
  • 31 (a)
OneToMany
Rice
(Oryza sativa)
Liliopsida Os.8793 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Species where no ortholog for PANK3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PANK3: view image

Paralogs for PANK3 Gene

Paralogs for PANK3 Gene

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

  • PANK3_HUMAN
  • E5RHA5_HUMAN

Pseudogenes.org Pseudogenes for PANK3 Gene

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

Variants for PANK3 Gene

Additional dbSNP identifiers (rs#s) for PANK3 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for PANK3 Gene

Disorders for PANK3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PANK3 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search PANK3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PANK3

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

No data available for 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
  2. Human pantothenate kinase 4 is a pseudo-pantothenate kinase. (PMID: 30927326) Yao J … Jackowski S (Protein science : a publication of the Protein Society 2019) 3 4
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. 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

Products for PANK3 Gene

Sources for PANK3 Gene