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Aliases for PANK4 Gene

Aliases for PANK4 Gene

  • Pantothenate Kinase 4 2 3 5
  • Pantothenic Acid Kinase 4 3 4
  • EC 2.7.1.33 4 61
  • HPanK4 3 4

External Ids for PANK4 Gene

Previous GeneCards Identifiers for PANK4 Gene

  • GC01M002452
  • GC01M002100
  • GC01M002309
  • GC01M002472
  • GC01M002429
  • GC01M001719

Summaries for PANK4 Gene

Entrez Gene Summary for PANK4 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 most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]

GeneCards Summary for PANK4 Gene

PANK4 (Pantothenate Kinase 4) is a Protein Coding gene. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Neuroscience. GO annotations related to this gene include pantothenate kinase activity. An important paralog of this gene is PANK2.

UniProtKB/Swiss-Prot for PANK4 Gene

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

Gene Wiki entry for PANK4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PANK4 Gene

Genomics for PANK4 Gene

Regulatory Elements for PANK4 Gene

Enhancers for PANK4 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
GH01G002495 0.8 ENCODE 12.6 +30.3 30295 1.0 HDGF SAP130 DMAP1 EBF1 GLIS2 ZFHX2 HSF1 ZNF600 PCBP1 RELB ENSG00000224387 PANK4 MMEL1 MORN1 ENSG00000229393 GC01P002503
GH01G002499 0.7 ENCODE 12.6 +26.6 26567 1.1 ZSCAN4 NR2F1 SP2 MNT BCL11B HIC1 ZFHX2 BCL11A GLIS1 PATZ1 ENSG00000224387 PANK4 MORN1 GC01P002503 ENSG00000229393
GH01G002522 1.3 ENCODE dbSUPER 5.7 +0.1 123 7.3 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF766 ENSG00000224387 MORN1 LOC100129534 SLC35E2 MIB2 SLC35E2B LOC100129381 MMEL1 ENSG00000272449 PANK4
GH01G003154 0.8 dbSUPER 5.2 -628.3 -628302 2.1 RING1 TFAP4 SAP130 SUZ12 ZNF48 RARA GLIS2 NR2F6 EZH2 ZNF263 MORN1 TP73-AS1 LOC100129534 PANK4 GC01P003150 LOC105378606
GH01G003153 0.7 dbSUPER 5.2 -627.8 -627818 0.9 RING1 SAP130 SUZ12 ZNF48 RARA NR2F6 EZH2 ZNF263 RNF2 NR2F1 MORN1 TP73-AS1 LOC100129534 PANK4 GC01P003150 LOC105378606
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PANK4 on UCSC Golden Path with GeneCards custom track

Promoters for PANK4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000000360 328 1401 HDGF PKNOX1 CREB3L1 AGO1 ARID4B SIN3A FEZF1 YY1 ZNF766 ZNF207

Genomic Location for PANK4 Gene

Chromosome:
1
Start:
2,508,531 bp from pter
End:
2,526,628 bp from pter
Size:
18,098 bases
Orientation:
Minus strand

Genomic View for PANK4 Gene

Genes around PANK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PANK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PANK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PANK4 Gene

Proteins for PANK4 Gene

  • Protein details for PANK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NVE7-PANK4_HUMAN
    Recommended name:
    Pantothenate kinase 4
    Protein Accession:
    Q9NVE7
    Secondary Accessions:
    • B9DI84
    • Q53EU3
    • Q5TA84
    • Q7RTX3
    • Q9H3X5

    Protein attributes for PANK4 Gene

    Size:
    773 amino acids
    Molecular mass:
    85991 Da
    Quaternary structure:
    • Homodimer. Interacts with PKM (By similarity).

neXtProt entry for PANK4 Gene

Selected DME Specific Peptides for PANK4 Gene

Q9NVE7:
  • LGWEERQLALVKGLLAGNVFDWGAKAVS
  • FGFEEAKRKLQERPWLVDSY
  • YWLTCFEEALDGVVKRAVASQP
  • WLQRLKGPPHKCALIFADNSGIDIILGVFPFVRELL
  • GDSLDKSITLPPDEIFRNLENAKRFAIDIGGSLTKLAYY
  • QPFAYGTLTVRSLLDTREHCLNEFNFPDPYSKVKQ
  • LVRERGADLVVIEGMGRA
  • FGGFFIRG
  • SYVPDTVDLTDDALAR
  • KNAWLAERLGG
  • GGSSIGGGTFWGLGALLTKTKKFDELL
  • EVILACNSGPALNDVT
  • YGGAHQTLGLSGNLIASSFGKSATAD
  • EACLDFI
  • DHLVNTETKVIQATGGGAYKFKDLIEEKLRLKVDKEDVM
  • ERAEKFRQKYW
  • EFSKEDMAKSLLHMISNDIGQLACL
  • LFSVIFKYEVP
  • YQKDSDPEFRFQTNHP
  • SRLDKGLA

Post-translational modifications for PANK4 Gene

  • Ubiquitination at Lys137, Lys234, and Lys487
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for PANK4 (PANK4)
  • Abcam antibodies for PANK4
  • Cloud-Clone Corp. Antibodies for PANK4

Domains & Families for PANK4 Gene

Suggested Antigen Peptide Sequences for PANK4 Gene

Graphical View of Domain Structure for InterPro Entry

Q9NVE7

UniProtKB/Swiss-Prot:

PANK4_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 PANK4: view

No data available for Gene Families for PANK4 Gene

Function for PANK4 Gene

Molecular function for PANK4 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 PANK4 Gene

Gene Ontology (GO) - Molecular Function for PANK4 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 PANK4: view
genes like me logo Genes that share phenotypes with PANK4: view

Animal Model Products

CRISPR Products

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PANK4 Gene

Localization for PANK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PANK4 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 PANK4 gene
Compartment Confidence
cytosol 3
nucleus 2
extracellular 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PANK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with PANK4: view

Pathways & Interactions for PANK4 Gene

genes like me logo Genes that share pathways with PANK4: view

UniProtKB/Swiss-Prot Q9NVE7-PANK4_HUMAN

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

Gene Ontology (GO) - Biological Process for PANK4 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 PANK4: view

No data available for SIGNOR curated interactions for PANK4 Gene

Drugs & Compounds for PANK4 Gene

(2) Drugs for PANK4 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Pantothenic acid Vet_approved Nutra 26

(6) Additional Compounds for PANK4 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 PANK4: view

Transcripts for PANK4 Gene

Unigene Clusters for PANK4 Gene

Pantothenate kinase 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PANK4 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c · 3d ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^
SP1: - - - - -
SP2:
SP3: - - - -
SP4: - - - - -
SP5: - - - - - - - - -
SP6:
SP7:
SP8: - - -
SP9:
SP10: - -
SP11: -

ExUns: 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b ^ 21
SP1: - - -
SP2: - - -
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:
SP9:
SP10:
SP11:

Relevant External Links for PANK4 Gene

GeneLoc Exon Structure for
PANK4
ECgene alternative splicing isoforms for
PANK4

Expression for PANK4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PANK4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PANK4 Gene

This gene is overexpressed in Lymph node (7.9) and Brain (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PANK4 Gene



Protein tissue co-expression partners for PANK4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PANK4 Gene:

PANK4

SOURCE GeneReport for Unigene cluster for PANK4 Gene:

Hs.26156

mRNA Expression by UniProt/SwissProt for PANK4 Gene:

Q9NVE7-PANK4_HUMAN
Tissue specificity: Ubiquitously expressed with higher expression in the muscle.

Evidence on tissue expression from TISSUES for PANK4 Gene

  • Nervous system(4.7)
  • Kidney(4.2)
  • Heart(2)
genes like me logo Genes that share expression patterns with PANK4: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PANK4 Gene

Orthologs for PANK4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PANK4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PANK4 34 35
  • 99.35 (n)
oppossum
(Monodelphis domestica)
Mammalia PANK4 35
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PANK4 34 35
  • 87.54 (n)
dog
(Canis familiaris)
Mammalia PANK4 34 35
  • 87.15 (n)
rat
(Rattus norvegicus)
Mammalia Pank4 34
  • 86.03 (n)
mouse
(Mus musculus)
Mammalia Pank4 34 16 35
  • 85.36 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PANK4 35
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves PANK4 34 35
  • 76.37 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 81 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia pank4 34
  • 72 (n)
Str.20093 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.2107 34
zebrafish
(Danio rerio)
Actinopterygii pank4 34 35
  • 74.5 (n)
zgc66285 34
fruit fly
(Drosophila melanogaster)
Insecta CG5828 34 35
  • 51.95 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010073 34
  • 49.12 (n)
worm
(Caenorhabditis elegans)
Secernentea pnk-4 34
  • 46.52 (n)
pnk-1 35
  • 33 (a)
ManyToMany
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR729C 34
  • 57.51 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C00869g 34
  • 52.45 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CAB1 34 35 37
  • 50.16 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons PANK2 34
  • 50.7 (n)
rice
(Oryza sativa)
Liliopsida Os09g0533100 34
  • 50.86 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU03154 34
  • 58.47 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPBC4B4.01c 34
  • 50.15 (n)
Species where no ortholog for PANK4 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PANK4 Gene

ENSEMBL:
Gene Tree for PANK4 (if available)
TreeFam:
Gene Tree for PANK4 (if available)

Paralogs for PANK4 Gene

Paralogs for PANK4 Gene

(2) SIMAP similar genes for PANK4 Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with PANK4: view

Variants for PANK4 Gene

Sequence variations from dbSNP and Humsavar for PANK4 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_035470 A colorectal cancer sample
rs1000059023 -- 2,517,627(+) CAGAC(A/G)TGGGG intron-variant, utr-variant-3-prime
rs1000135094 -- 2,517,927(+) ACTCC(A/G)TAATT intron-variant
rs1000462164 -- 2,526,013(+) CCGCC(G/T)AGCTC intron-variant, utr-variant-5-prime
rs1000515170 -- 2,517,825(+) GTTTC(A/G)ACTCC intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PANK4 Gene

Variant ID Type Subtype PubMed ID
dgv15n106 CNV tandem duplication 24896259
dgv1n27 CNV loss 19166990
dgv50n54 CNV loss 21841781
esv1165961 CNV insertion 17803354
esv2583485 CNV insertion 19546169
esv3402792 CNV duplication 20981092
nsv1 OTHER inversion 15895083
nsv1116581 CNV tandem duplication 24896259
nsv1119397 CNV insertion 24896259
nsv1122281 CNV deletion 24896259
nsv1126965 CNV deletion 24896259
nsv1145307 CNV deletion 24896259
nsv470684 CNV loss 18288195
nsv470685 CNV gain 18288195
nsv545076 CNV gain 21841781
nsv545077 CNV gain 21841781
nsv545079 CNV loss 21841781
nsv545080 CNV loss 21841781
nsv545081 CNV loss 21841781
nsv7171 OTHER inversion 18451855
nsv818222 CNV loss 17921354
nsv823920 CNV gain 20364138
nsv824031 CNV gain 20364138
nsv951557 CNV deletion 24416366
nsv998482 CNV loss 25217958

Variation tolerance for PANK4 Gene

Residual Variation Intolerance Score: 4.54% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.77; 91.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PANK4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PANK4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PANK4 Gene

Disorders for PANK4 Gene

Relevant External Links for PANK4

Genetic Association Database (GAD)
PANK4
Human Genome Epidemiology (HuGE) Navigator
PANK4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PANK4

No disorders were found for PANK4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PANK4 Gene

Publications for PANK4 Gene

  1. A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome. (PMID: 11479594) Zhou B. … Hayflick S.J. (Nat. Genet. 2001) 2 3 4 64
  2. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  3. [Screening susceptibility genes of type 2 diabetes in Chinese population by single nucleotide polymorphism analysis]. (PMID: 16038259) Li Y. … Fang F.D. (Zhongguo Yi Xue Ke Xue Yuan Xue Bao 2005) 3 46 64
  4. High glucose upregulates pantothenate kinase 4 (PanK4) and thus affects M2-type pyruvate kinase (Pkm2). (PMID: 16132722) Li Y. … Fang F. (Mol. Cell. Biochem. 2005) 3 22 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for PANK4 Gene

Sources for PANK4 Gene

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