PANK1 - pantothenate kinase 1 Gene

Homo sapiens

Also known as PANK

Gene ID: 53354 | Gene type: protein coding

About PANK1

Cytogenetic location: 10q23.31 Genomic coordinates (GRCh38): 10:89,579,495-89,645,242 (from NCBI)

This gene has 5 transcripts (splice variants), 233 orthologues and 3 paralogues. Broad expression in liver (RPKM 8.6), kidney (RPKM 7.3) and 16 other tissues.

Summary

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]

PANK1 Products(3)

mRNA	Protein	Name
NM_138316.4	NP_612189.2	pantothenate kinase 1 isoform gamma
NM_148977.3	NP_683878.2	pantothenate kinase 1 isoform alpha
NM_148978.3	NP_683879.1	pantothenate kinase 1 isoform beta

PANK1 Protein Structure

Fumble

0
100
200
300
400
500
598 a.a.

Protein Preferred Names

Protein Names

pantothenate kinase 1

pantothenic acid kinase 1

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

Neurodegeneration With Brain Iron Accumulation 6

NBIA6	Copan
Neurodegeneration With Brain Iron Accumulation Due To Coasy Mutation	Coasy Protein-Associated Neurodegeneration
Neurodegeneration, With Brain Iron Accumulation, Type 6

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 3

Neuroferritinopathy	NBIA3
Ferritin-Related Neurodegeneration	Hereditary Ferritinopathy
Basal Ganglia Disease, Adult-Onset	Adult Basal Ganglia Disease
Neuroferritinopathy	Basal Ganglia Disease, Adult-Onset
Basal Ganglia Disease Adult-Onset	Adult-Onset Basal Ganglia Disease
Neurodegeneration, With Brain Iron Accumulation, Type 3

Neuroaxonal Dystrophy

Neuroaxonal Dystrophies

Neuroacanthocytosis

Neuroacanthocytosis Syndrome

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

Spastic Ataxia 5

Neurodegeneration With Brain Iron Accumulation 2a

Infantile Neuroaxonal Dystrophy	Plan
Seitelberger Disease	Inad
Infantile Neuroaxonal Dystrophy 1	Inad1
Pla2g6-Associated Neurodegeneration	NBIA2A
Neuroaxonal Dystrophy, Infantile	Neurodegeneration, Pla2g6-Associated
Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related	Phospholipase A2-Associated Neurodegeneration
Nbia2	Pla2g6-Related Disorders
Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy	Karak Syndrome, Included
Nbia2b	Neuroaxonal Dystrophy, Atypical
Neurodegeneration With Brain Iron Accumulation 2b	Nbia, Pla2g6-Related
Seitelberger'S Disease	Neurodegeneration Pla2g6-Associated
Dystrophy, Neuroaxonal, Infantile	Neurodegeneration, With Brain Iron Accumulation, Type 2a
Neuroaxonal Dystrophies	Neurodegeneration With Brain Iron Accumulation 2

Choreoacanthocytosis

Chorea-Acanthocytosis	CHAC
Acanthocytosis With Neurologic Disorder	Levine-Critchley Syndrome
Choreaacanthocytosis	Chorea Acanthocytosis
Neuroacanthocytosis	Levine-Critchley Syndrome, Formerly
Neuroacanthocytosis, Formerly	Choreo-Acanthocytosis
Acanthocytosis Chorea	Chorea Acanthocytosis Syndrome

Oromandibular Dystonia

Neurodegeneration With Brain Iron Accumulation 5

NBIA5	Beta-Propeller Protein-Associated Neurodegeneration
Bpan	Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
Senda	Neurodegeneration With Brain Iron Accumulation Type 5
Neurodegeneration With Brain Iron Accululation 5	Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood
Neurodegeneration, With Brain Iron Accululation, Type 5

Neurodegeneration With Brain Iron Accumulation

Nbia	Neurodegeneration With Brain Iron Accumulation Disorders
Neurodegeneration, With Brain Iron Accumulation

Kufor-Rakeb Syndrome

Park9	Krppd
KRS	Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia
Autosomal Recessive Parkinson Disease 9	Parkinson Disease 9
Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset	Autosomal Recessive Juvenile Onset Parkinson Disease 9
Parkinson Disease Type 9	Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia
Park 9	Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Cln12 Disease	Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis
Parkinson Disease Autosomal Recessive 9

Hemochromatosis, Type 1

Hemochromatosis	Hemochromatosis Type 1
Hereditary Hemochromatosis	Hh
HFE1	Hfe Hemochromatosis, Modifier Of
Symptomatic Form Of Classic Hemochromatosis	Symptomatic Form Of Hemochromatosis Type 1
Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis	Haemochromatosis
Iron Storage Disorder	Bronze Diabetes
Hereditary Haemochromatosis	Hlah
Hfe	Hemochromatosis, Hereditary
Diabetes Bronze	Classic Hemochromatosis
Hfe-Associated Hereditary Hemochromatosis	Hemochromatosis Classic
Bronzed Cirrhosis	Familial Hemochromatosis
Genetic Hemochromatosis	Hc
Pigmentary Cirrhosis	Primary Hemochromatosis
Troisier-Hanot-Chauffard Syndrome	Von Recklenhausen-Applebaum Disease
Hemochromatosis 1	Primary Hereditary Hemochromatosis
Bronze Cirrhosis

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

Movement Disease

Movement Disorders

Movement Disorder

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia	Hereditary Spastic Paraparesis
Strumpell-Lorrain Disease	Familial Spastic Paraparesis
Hsp	Spg
Strümpell-Lorrain Disease	Spastic Paraplegia, Hereditary
French Settlement Disease	Strumpell-Lorrain Syndrome
Fsp	Spastic Paraplegia, Familial
Spastic Paraplegia Hereditary	Spastic Paraplegia 3, Autosomal Dominant
Spastic Paraparesis	Hereditary Spastic Paralysis
Familial Spastic Paralysis	Hereditary Spastic Ataxia

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-124634	PZ-2891	Modulator	99.38%	Unkown
HY-44170	Pantothenate kinase-IN-2	Inhibitor	≥98.0%	Unkown
HY-RS10016	PANK1 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	PANK1	MGD	MGI:1922985
Rattus norvegicus	PANK1	RGD	RGD:1304677
Macaca mulatta	PANK1	VGNC	VGNC:75753
Felis catus	PANK1	VGNC	VGNC:107065
Bos taurus	PANK1	VGNC	VGNC:32563

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