PANK4 - pantothenate kinase 4 (inactive) Gene

Also Known as CTRCT49

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 55229

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
Others PANK4 NCBI