1. Gene
  2. PANK4 - pantothenate kinase 4 (inactive) Gene

PANK4 - pantothenate kinase 4 (inactive) Gene

Homo sapiens

Also known as CTRCT49

Gene ID: 55229 | Gene type: protein coding

About PANK4

Cytogenetic location: 1p36.32 Genomic coordinates (GRCh38): 1:2,508,537-2,526,596 (from NCBI)

This gene has 12 transcripts (splice variants), 1 gene allele, 201 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in spleen (RPKM 4.0), heart (RPKM 3.4) 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 most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]

PANK4 Products(1)

mRNA Protein Name
NM_018216.4 NP_060686.3 4'-phosphopantetheine phosphatase

PANK4 Protein Structure

Fumble

Fumble: Fumble (36 - 368)

DUF89

DUF89: Protein of unknown function DUF89 (451 - 759)

  • 0
  • 200
  • 400
  • 600
  • 773 a.a.
Protein Preferred Names Protein Names

4'-phosphopantetheine phosphatase

inactive pantothenic acid kinase 4

Related Diseases

Diseases Alias
Cataract 49

CTRCT49

Cararact 49, Posterior

Cataract 49, Posterior

Early-Onset Posterior Polar Cataract
Neurodegeneration With Brain Iron Accumulation

Nbia

Neurodegeneration With Brain Iron Accumulation Disorders

Neurodegeneration, With Brain Iron Accumulation

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

Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome

Deletion 1p36

Monosomy 1p36

Subtelomeric 1p36 Deletion

Monosomy 1p36 Syndrome

Distal Monosomy 1p36

Del(1)(P36)

Deletion 1pter

Monosomy 1pter

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

Orthologs Information

Species Symbol Source ID
Felis catus PANK4 VGNC VGNC:64032
Mus musculus PANK4 MGD MGI:2387466
Bos taurus PANK4 VGNC VGNC:32566
Rattus norvegicus PANK4 RGD RGD:628857
Macaca mulatta PANK4 VGNC VGNC:75652
Canis familiaris PANK4 VGNC VGNC:44253