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

PANK4 - pantothenate kinase 4 (inactive) Gene

中文名称:泛酸激酶 4 (无活性)

种属: Homo sapiens

同用名: CTRCT49

基因 ID: 55229 | 基因类型: protein coding

关于 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.

功能概要

该基因编码一种属于泛酸激酶家族的蛋白质。泛酸激酶是细菌和哺乳动物细胞中辅酶 A (CoA) 生物合成的关键调节酶。它催化导致 CoA 的通用生物合成途径中的第一个关键步骤,并且其本身通过 CoA 的反馈抑制受到调节。这个家族成员的肌肉含量最多,但在所有组织中都有表达。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

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

PANK4 蛋白结构

Fumble

Fumble: Fumble (36 - 368)

DUF89

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

  • 0
  • 200
  • 400
  • 600
  • 773 a.a.
蛋白主名 其他名称

4'-phosphopantetheine phosphatase

inactive pantothenic acid kinase 4

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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