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Aliases for PANK1 Gene

Aliases for PANK1 Gene

  • Pantothenate Kinase 1 2 3 5
  • Pantothenic Acid Kinase 1 3 4
  • EC 2.7.1.33 4 61
  • 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. Among its related pathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. GO annotations related to this gene include pantothenate kinase activity. An important paralog of this gene is PANK2.

UniProtKB/Swiss-Prot for PANK1 Gene

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

Gene Wiki entry for PANK1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PANK1 Gene

Genomics for PANK1 Gene

Regulatory Elements for PANK1 Gene

Enhancers for PANK1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10F089667 0.2 ENCODE 15.2 -23.1 -23123 1.7 HLF HMG20A TEAD3 LINC00865 PANK1 ENSG00000235100 GC10M089668 LOC105378420
GH10F089684 0.5 Ensembl 14.9 -38.5 -38529 0.2 PANK1 GC10M089668 GC10M089697 PIR31281
GH10F089655 1 ENCODE 8.2 -10.1 -10134 1.2 INSM2 FEZF1 RAD21 YY1 GLIS2 ZNF391 EGR2 ZNF362 PPARG ZNF843 LINC00865 PANK1 LOC105378420 GC10M089668
GH10F089641 0.2 ENCODE 6.8 +0.9 851 5.7 HDGF MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ENSG00000235100 ENSG00000240996 LINC00865 KIF20B PANK1 ENSG00000249962 GC10M089597
GH10F089658 1.1 ENCODE 5.6 -13.8 -13832 1.1 JUND MTA2 IKZF1 EBF1 TBX21 MAFK LINC00865 ENSG00000240996 KIF20B SLC16A12-AS1 PANK1 ENSG00000235100 LOC105378420 GC10M089668
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PANK1 on UCSC Golden Path with GeneCards custom track

Promoters for PANK1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001425824 1172 2801 HDGF ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 ZNF263 SP3

Genomic Location for PANK1 Gene

Chromosome:
10
Start:
89,579,497 bp from pter
End:
89,645,572 bp from pter
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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PANK1 (PANK1)

Domains & Families for PANK1 Gene

Protein Domains for PANK1 Gene

Suggested Antigen Peptide Sequences for PANK1 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for PANK1 Gene

Function for PANK1 Gene

Molecular function for PANK1 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. 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 Function:
Plays a role in the physiological regulation of the intracellular CoA concentration.
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

Gene Ontology (GO) - Molecular Function for PANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004594 pantothenate kinase activity TAS --
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
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

miRNA for PANK1 Gene

miRTarBase miRNAs that target PANK1

Flow Cytometry Products

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
Jensen Localization Image for PANK1 Gene COMPARTMENTS Subcellular localization image for PANK1 gene
Compartment Confidence
cytosol 5
nucleus 3
endosome 2
mitochondrion 2
cytoskeleton 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for PANK1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0030118 clathrin coat IEA --
GO:0055037 recycling endosome IEA --
genes like me logo Genes that share ontologies with PANK1: view

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 --
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
Adenosine triphosphate Approved Nutra 0
Pantothenic acid Vet_approved Nutra 25

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

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 PANK1: view

Transcripts for PANK1 Gene

Unigene Clusters for PANK1 Gene

Pantothenate kinase 1:
Representative Sequences:

Flow Cytometry Products

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
ECgene alternative splicing isoforms 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, PaxDb, MaxQB, and MOPED for PANK1 Gene



Protein tissue co-expression partners for PANK1 Gene

NURSA nuclear receptor signaling pathways regulating expression of PANK1 Gene:

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.
genes like me logo Genes that share expression patterns with PANK1: view

Primer Products

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 34 35
  • 99.16 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PANK1 35
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 35
  • 91 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Pank1 34
  • 90.77 (n)
cow
(Bos Taurus)
Mammalia PANK1 34 35
  • 90.75 (n)
oppossum
(Monodelphis domestica)
Mammalia PANK1 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pank1 34 16 35
  • 85.9 (n)
chicken
(Gallus gallus)
Aves PANK1 35
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PANK1 35
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pank1 34
  • 80.44 (n)
zebrafish
(Danio rerio)
Actinopterygii pank1a 35
  • 79 (a)
OneToMany
pank1b 34 35
  • 76.33 (n)
Dr.11467 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011715 34
  • 62.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta fbl 34 35
  • 61.93 (n)
worm
(Caenorhabditis elegans)
Secernentea pnk-4 35
  • 12 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAB1 35
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.14853 34
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)

Paralogs for PANK1 Gene

Paralogs for PANK1 Gene

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

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

Variants for PANK1 Gene

Sequence variations from dbSNP and Humsavar for PANK1 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs10047318 -- 89,634,352(+) AGAAG(A/T)TCATA intron-variant, utr-variant-5-prime
rs10159610 -- 89,628,842(+) AATGA(C/G)AATCA intron-variant
rs10160034 -- 89,593,093(+) GGAAG(A/C)TTTCC intron-variant, upstream-variant-2KB
rs10509577 -- 89,592,910(+) TGGAC(A/G)CATGG intron-variant, upstream-variant-2KB
rs10509578 -- 89,643,059(+) TCCTA(A/G)AGGGT intron-variant

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)

Relevant External Links for PANK1 Gene

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

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

Disorders for PANK1 Gene

Relevant External Links for PANK1

Genetic Association Database (GAD)
PANK1
Human Genome Epidemiology (HuGE) Navigator
PANK1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PANK1

No disorders were found for PANK1 Gene.

No data available for MalaCards , 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. (Int. J. Biochem. Cell Biol. 2002) 2 3 4 22 64
  2. Crystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorder. (PMID: 17631502) Hong B.S. … Park H.W. (J. Biol. Chem. 2007) 3 4 22 64
  3. PPARalpha controls the intracellular coenzyme A concentration via regulation of PANK1alpha gene expression. (PMID: 14523052) Ramaswamy G. … Jackowski S. (J. Lipid Res. 2004) 3 4 22 64
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  5. Genome-wide association analysis of metabolic traits in a birth cohort from a founder population. (PMID: 19060910) Sabatti C. … Peltonen L. (Nat. Genet. 2009) 3 46 64

Products for PANK1 Gene

Sources for PANK1 Gene

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