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PANK3 - pantothenate kinase 3 Gene

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79646

About PANK3

Cytogenetic location: 5q34 Genomic coordinates (GRCh38): 5:168,548,495-168,579,368 (from NCBI)

This gene has 3 transcripts (splice variants), 145 orthologues and 3 paralogues. Ubiquitous expression in duodenum (RPKM 27.0), colon (RPKM 21.4) and 25 other tissues.

Summary

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]

PANK3 Products (1)

mRNA	Protein	Name
NM_024594.4	NP_078870.1	pantothenate kinase 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP binding	IDA IDA: Inferred from direct assay	20797618	GOA
enables acetyl-CoA binding	IDA IDA: Inferred from direct assay	17631502	GOA
enables pantothenate kinase activity	IDA IDA: Inferred from direct assay	20797618	GOA
enables pantothenate kinase activity	IMP IMP: Inferred from mutant phenotype	17631502	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	17631502	GOA
enables vitamin binding	IDA IDA: Inferred from direct assay	27555321	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in coenzyme A biosynthetic process	IDA IDA: Inferred from direct assay	30927326	GOA
involved in coenzyme A biosynthetic process	IMP IMP: Inferred from mutant phenotype	20797618	GOA
involved in phosphorylation	IDA IDA: Inferred from direct assay	20797618	GOA
involved in phosphorylation	IMP IMP: Inferred from mutant phenotype	17631502	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytosol	IDA IDA: Inferred from direct assay	23152917	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

PANK3 Protein Structure

Fumble

0
100
200
300
370 a.a.

Protein Preferred Names	Protein Names
pantothenate kinase 3	hPanK3

Related Diseases

Diseases	Alias
Neurodegeneration With Brain Iron Accumulation 1	Pantothenate Kinase-Associated Neurodegeneration Pkan NBIA1 Hallervorden-Spatz Disease Hallervorden-Spatz Syndrome Pigmentary Pallidal Degeneration Neuroaxonal Dystrophy, Late Infantile Neurodegeneration With Brain Iron Accumulation Type 1 Classic Pantothenate Kinase-Associated Neurodegeneration Pkan Neuroaxonal Dystrophy, Juvenile-Onset Brain Iron Accumulation Type I Syndrome Nbia Neurodegeneration With Brain Iron Accumulation Nbia1, Classic Form Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form Pkan, Classic Form Atypical Pantothenate Kinase-Associated Neurodegeneration Nbia1, Atypical Form Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form Pkan, Atypical Form Hss Pkan Neuroaxonal Dystrophy Juvenile-Onset Neurodegeneration, With Brain Iron Accumulation, Type 1
Woodhouse-Sakati Syndrome	Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome Woodhouse Sakati Syndrome Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome WDSKS Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome Neuroectodermal Endocrine Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities Wss
Neurodegeneration With Brain Iron Accumulation 2b	NBIA2B Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related Neuroaxonal Dystrophy, Atypical Karak Syndrome Atypical Neuroaxonal Dystrophy Neurodegeneration With Brain Iron Accumulation Pla2g6-Related Neurodegeneration, With Brain Iron Accumulation, Type 2b Neurodegeneration With Brain Iron Accumulation 2
Neurodegeneration With Brain Iron Accumulation	Nbia Neurodegeneration With Brain Iron Accumulation Disorders Neurodegeneration, With Brain Iron Accumulation
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-44170	Pantothenate kinase-IN-2	Inhibitor	98.18%	Unkown
HY-159509	Claziprotamidum	Modulator	98.33%	Unkown
HY-181917	Pantothenate kinase-IN-3	Activator	/	Unkown
HY-181256	PANK1/3 activator 1	Activator	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	PANK3	VGNC	VGNC:64031
Bos taurus	PANK3	VGNC	VGNC:32565
Rattus norvegicus	PANK3	RGD	RGD:1310531
Canis familiaris	PANK3	VGNC	VGNC:44252
Mus musculus	PANK3	MGD	MGI:2387464
Macaca mulatta	PANK3	VGNC	VGNC:75651
Others	PANK3	NCBI