This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been ... See more...

Aliases for PANK1 Gene

Aliases for PANK1 Gene

  • Pantothenate Kinase 1 2 3 4 5
  • Pantothenic Acid Kinase 1 3 4
  • EC 2.7.1.33 4 52
  • PANK 3 4
  • Pantothenate Kinase 2
  • HPanK1 4
  • HPanK 4

External Ids for PANK1 Gene

Previous HGNC Symbols for PANK1 Gene

  • PANK

Previous GeneCards Identifiers for PANK1 Gene

  • GC10M090564
  • GC10M091473
  • GC10M091007
  • GC10M091005
  • GC10M091332
  • GC10M084976

Summaries for PANK1 Gene

Entrez Gene Summary for PANK1 Gene

  • This gene encodes a member of the pantothenate kinase family. Pantothenate kinases are key regulatory enzymes in the biosynthesis of coenzyme A (CoA). The encoded protein catalyzes the first and rate-limiting enzymatic reaction in CoA biosynthesis and is regulated by CoA through feedback inhibition. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. This gene and an intronic miRNA on the same strand are co-regulated by the tumor suppressor p53 (see PMID 20833636). [provided by RefSeq, Apr 2011]

GeneCards Summary for PANK1 Gene

PANK1 (Pantothenate Kinase 1) is a Protein Coding gene. Diseases associated with PANK1 include Neurodegeneration With Brain Iron Accumulation 1 and Choreoacanthocytosis. 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 Summary for PANK1 Gene

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

Gene Wiki entry for PANK1 Gene

Additional gene information for PANK1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PANK1 Gene

Genomics for PANK1 Gene

GeneHancer (GH) Regulatory Elements for PANK1 Gene

Promoters and enhancers for PANK1 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
GH10J089641 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 506.7 +0.9 850 5.7 EP300 FOXK2 ZSCAN5C SIN3A TCF12 NRF1 POLR2G USF1 SP1 NCOR1 PANK1 ENSG00000232936 ENSG00000249962 LOC105378421 lnc-SLC16A12-1 KIF20B ENSG00000235100 LINC00865 ENSG00000240996 ACTA2-AS1
GH10J089700 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 5.5 -56.6 -56629 3.6 FOXK2 ZBTB40 ZNF217 EP300 CTCF ZSCAN5C SIN3A NRF1 TCF12 POLR2G ENSG00000235100 KIF20B LINC00865 ENSG00000240996 PANK1 NONHSAG006490.2
GH10J089667 Enhancer 0.6 Ensembl ENCODE 15.2 -23.1 -23122 1.7 SKI FOXA2 TEAD3 HLF LINC00865 PANK1 ENSG00000235100 ENSG00000225836 piR-30282
GH10J089684 Enhancer 0.6 Ensembl ENCODE 14.9 -39.1 -39129 1.4 FOS CEBPB STAT3 LINC00865 PANK1 piR-30282 ENSG00000235100 ENSG00000225836
GH10J089655 Enhancer 0.8 Ensembl ENCODE 8.2 -10.1 -10133 1.2 NCOR1 TEAD1 ZBTB33 JUND RAD21 RXRA MAX HMG20A HNF4A REST LINC00865 PANK1 ENSG00000225836 piR-30282
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PANK1 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PANK1

Top Transcription factor binding sites by QIAGEN in the PANK1 gene promoter:
  • AhR
  • Egr-4
  • Evi-1
  • FOXO4
  • NF-1
  • NF-1/L

Genomic Locations for PANK1 Gene

Genomic Locations for PANK1 Gene
chr10:89,579,497-89,645,572
(GRCh38/hg38)
Size:
66,076 bases
Orientation:
Minus strand
chr10:91,339,254-91,405,329
(GRCh37/hg19)
Size:
66,076 bases
Orientation:
Minus strand

Genomic View for PANK1 Gene

Genes around PANK1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PANK1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PANK1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PANK1 Gene

Proteins for PANK1 Gene

  • Protein details for PANK1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TE04-PANK1_HUMAN
    Recommended name:
    Pantothenate kinase 1
    Protein Accession:
    Q8TE04
    Secondary Accessions:
    • A6NIP0
    • Q7RTX6
    • Q7Z495
    • Q8TBQ8

    Protein attributes for PANK1 Gene

    Size:
    598 amino acids
    Molecular mass:
    64339 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAH26296.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PANK1 Gene

    Alternative splice isoforms for PANK1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PANK1 Gene

Selected DME Specific Peptides for PANK1 Gene

Q8TE04:
  • TGIRDVHLELK
  • FPWFGMDIGGTLVKL
  • DIYGGDYERFGL
  • SMKLLAYA
  • LKSIRKYLTSN
  • FEEALEMA

Post-translational modifications for PANK1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PANK1 Gene

Gene Families for PANK1 Gene

Protein Domains for PANK1 Gene

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

Suggested Antigen Peptide Sequences for PANK1 Gene

GenScript: Design optimal peptide antigens:
  • Pantothenic acid kinase 1 (PANK1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8TE04

UniProtKB/Swiss-Prot:

PANK1_HUMAN :
  • The N-terminal extension, present in isoform 1 may be the regulatory domain.
  • Belongs to the type II pantothenate kinase family.
Domain:
  • The N-terminal extension, present in isoform 1 may be the regulatory domain.
Family:
  • Belongs to the type II pantothenate kinase family.
genes like me logo Genes that share domains with PANK1: view

Function for PANK1 Gene

Molecular function for PANK1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the physiological regulation of the intracellular CoA concentration.
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;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by feedback inhibition by CoA and its thioesters. Strongly inhibited by acetyl-CoA and by manyl-CoA and also inhibited by high concentration of non-esterified CoA (CoASH) (By similarity).
UniProtKB/Swiss-Prot Induction:
Isoform 1 is induced by bezafibrate, a hypolipidemic drug which acts as an agonist of peroxisome proliferator activator receptor alpha (PPARA), while isoform 2 levels decrease slightly.

Enzyme Numbers (IUBMB) for PANK1 Gene

Phenotypes From GWAS Catalog for PANK1 Gene

Gene Ontology (GO) - Molecular Function for PANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004594 pantothenate kinase activity IBA 21873635
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
GO:0042803 protein homodimerization activity IDA 17631502
genes like me logo Genes that share ontologies with PANK1: view
genes like me logo Genes that share phenotypes with PANK1: view

Animal Models for PANK1 Gene

MGI Knock Outs for PANK1:

Animal Model Products

  • Taconic Biosciences Mouse Models for PANK1

CRISPR Products

miRNA for PANK1 Gene

miRTarBase miRNAs that target PANK1

Clone Products

  • Addgene plasmids for PANK1

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PANK1 Gene

Localization for PANK1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PANK1 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 PANK1 gene
Compartment Confidence
nucleus 5
cytosol 5
endosome 4
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0071944 cell periphery IEA --
genes like me logo Genes that share ontologies with PANK1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PANK1 Gene

Pathways & Interactions for PANK1 Gene

genes like me logo Genes that share pathways with PANK1: view

Pathways by source for PANK1 Gene

UniProtKB/Swiss-Prot Q8TE04-PANK1_HUMAN

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

Gene Ontology (GO) - Biological Process for PANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009108 coenzyme biosynthetic process TAS --
GO:0015937 coenzyme A biosynthetic process IEA,IBA --
GO:0016310 phosphorylation IEA --
genes like me logo Genes that share ontologies with PANK1: view

No data available for SIGNOR curated interactions for PANK1 Gene

Drugs & Compounds for PANK1 Gene

(2) Drugs for PANK1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pantothenic acid Approved, Vet_approved Nutra 35
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(7) Additional Compounds for PANK1 Gene - From: HMDB and Novoseek

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
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 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 PANK1: view

Transcripts for PANK1 Gene

mRNA/cDNA for PANK1 Gene

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

CRISPR Products

Clone Products

  • Addgene plasmids for PANK1

Alternative Splicing Database (ASD) splice patterns (SP) for PANK1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
SP1:
SP2: - -
SP3: -
SP4: -

Relevant External Links for PANK1 Gene

GeneLoc Exon Structure for
PANK1

Expression for PANK1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PANK1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PANK1 Gene

This gene is overexpressed in Liver (x8.9).

Protein differential expression in normal tissues from HIPED for PANK1 Gene

This gene is overexpressed in Pancreatic juice (50.4) and Liver (13.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PANK1 Gene



Protein tissue co-expression partners for PANK1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PANK1

SOURCE GeneReport for Unigene cluster for PANK1 Gene:

Hs.163555

mRNA Expression by UniProt/SwissProt for PANK1 Gene:

Q8TE04-PANK1_HUMAN
Tissue specificity: Isoform 1 is expressed at high levels in brain, heart, kidney, liver, skeletal muscle and testis. Isoform 2 is detected at much lower levels in kidney, liver, brain and testis and is not detected in heart or skeletal muscle.

Evidence on tissue expression from TISSUES for PANK1 Gene

  • Nervous system(4.5)
  • Muscle(4.3)
  • Liver(2.4)
genes like me logo Genes that share expression patterns with PANK1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for PANK1 Gene

Orthologs for PANK1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PANK1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PANK1 31 30
  • 99.16 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PANK1 31
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 31
  • 91 (a)
OneToMany
-- 31
  • 89 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pank1 30
  • 90.77 (n)
cow
(Bos Taurus)
Mammalia PANK1 31 30
  • 90.75 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PANK1 31
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pank1 17 31 30
  • 85.9 (n)
chicken
(Gallus gallus)
Aves PANK1 31
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PANK1 31
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pank1 30
  • 80.44 (n)
zebrafish
(Danio rerio)
Actinopterygii pank1a 31
  • 79 (a)
OneToMany
pank1b 31 30
  • 76.33 (n)
OneToMany
Dr.11467 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011715 30
  • 62.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta fbl 31 30
  • 61.93 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pnk-4 31
  • 12 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAB1 31
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Cin.14853 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14853 30
Species where no ortholog for PANK1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 (Oryza sativa)
  • 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 PANK1 Gene

ENSEMBL:
Gene Tree for PANK1 (if available)
TreeFam:
Gene Tree for PANK1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PANK1: view image

Paralogs for PANK1 Gene

Paralogs for PANK1 Gene

(2) SIMAP similar genes for PANK1 Gene using alignment to 1 proteins:

  • PANK1_HUMAN
genes like me logo Genes that share paralogs with PANK1: view

Variants for PANK1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PANK1 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
768376 Benign: not provided 89,644,972(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PANK1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PANK1 Gene

Variant ID Type Subtype PubMed ID
esv3624165 CNV loss 21293372
nsv527532 CNV loss 19592680

Variation tolerance for PANK1 Gene

Residual Variation Intolerance Score: 32% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.93; 74.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PANK1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PANK1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PANK1 Gene

Disorders for PANK1 Gene

MalaCards: The human disease database

(14) MalaCards diseases for PANK1 Gene - From: DISEASES

Additional Disease Information for PANK1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PANK1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PANK1 Gene

Publications for PANK1 Gene

  1. Cloning and characterization of a novel human pantothenate kinase gene. (PMID: 11809413) Ni X … Mao Y (The international journal of biochemistry & cell biology 2002) 2 3 4 23 54
  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 23 54
  3. PPARalpha controls the intracellular coenzyme A concentration via regulation of PANK1alpha gene expression. (PMID: 14523052) Ramaswamy G … Jackowski S (Journal of lipid research 2004) 3 4 23 54
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  5. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. (PMID: 19060910) Sabatti C … Peltonen L (Nature genetics 2009) 3 41 54

Products for PANK1 Gene

Sources for PANK1 Gene