PANK3 - pantothenate kinase 3 Gene

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子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 参考文献 由来
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 参考文献 由来
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 参考文献 由来
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

Fumble: Fumble (13 - 365)

  • 0
  • 100
  • 200
  • 300
  • 370 a.a.
Protein Preferred Names Protein Names

pantothenate kinase 3

  • hPanK3

関連疾患

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)
製品番号 製品名
製品効果
純度
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

生物種 Symbol 由来 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