PANK1 (pantothenate kinase 1)

2014-11-01 Affiliation

Identity

HGNC

PANK1

LOCATION

10q23.31

LOCUSID

53354

ALIAS

PANK

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 53354
MIM: 606160
HGNC: 8598
Ensembl: ENSG00000152782

Variants:

dbSNP: 53354
ClinVar: 53354
TCGA: ENSG00000152782
COSMIC: PANK1

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000152782	ENST00000307534	Q8TE04
ENSG00000152782	ENST00000322191	Q8TE04
ENSG00000152782	ENST00000342512	Q8TE04

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Pantothenate and CoA biosynthesis	KEGG	ko00770
Pantothenate and CoA biosynthesis	KEGG	hsa00770
Metabolic pathways	KEGG	hsa01100
Coenzyme A biosynthesis, pantothenate => CoA	KEGG	hsa_M00120
Coenzyme A biosynthesis, pantothenate => CoA	KEGG	M00120
Metabolism	REACTOME	R-HSA-1430728
Metabolism of vitamins and cofactors	REACTOME	R-HSA-196854
Metabolism of water-soluble vitamins and cofactors	REACTOME	R-HSA-196849
Vitamin B5 (pantothenate) metabolism	REACTOME	R-HSA-199220
Coenzyme A biosynthesis	REACTOME	R-HSA-196783

References

Pubmed ID	Year	Title	Citations
19060910	2009	Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.	337
16385451	2006	A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.	69
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
17631502	2007	Crystal structures of human pantothenate kinases. Insights into allosteric regulation and mutations linked to a neurodegeneration disorder.	23
23343762	2013	p53-Dependent regulation of metabolic function through transcriptional activation of pantothenate kinase-1 gene.	22
14523052	2004	PPARalpha controls the intracellular coenzyme A concentration via regulation of PANK1alpha gene expression.	21
22912811	2012	Cofilin/Twinstar phosphorylation levels increase in response to impaired coenzyme a metabolism.	4
11809413	2002	Cloning and characterization of a novel human pantothenate kinase gene.	2
12379284	2002	In reference to the Short Communication published by Ni et al.	0

Citation

Dessen P

PANK1 (pantothenate kinase 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71647/pank1-(pantothenate-kinase-1)