Pdxk MGI Mouse Gene Detail - MGI:1351869 - pyridoxal (pyridoxine, vitamin B6) kinase

Symbol

Pdxk
Name

pyridoxal (pyridoxine, vitamin B6) kinase
Synonyms

2310036D04Rik

Feature Type

protein coding gene
IDs

MGI:1351869
NCBI Gene: 216134
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr10:78272581-78300782 bp, - strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 10, 39.72 cM
Mapping Data

3 experiments

SNPs within 2kb

861 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1351869	protein coding gene	Chr10:78272578-78300809 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0017423	protein coding gene	Chr10:78891372-78920219 (-)
A/J	MGP_AJ_G0017401	protein coding gene	Chr10:76140366-76171515 (-)
AKR/J	MGP_AKRJ_G0017364	protein coding gene	Chr10:78175069-78202997 (-)
BALB/cJ	MGP_BALBcJ_G0017363	protein coding gene	Chr10:76304734-76333728 (-)
C3H/HeJ	MGP_C3HHeJ_G0017186	protein coding gene	Chr10:78289627-78318405 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0017819	protein coding gene	Chr10:81668293-81697910 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0015510	protein coding gene	Chr10:72487952-72517180 (-)
CAST/EiJ	MGP_CASTEiJ_G0016756	protein coding gene	Chr10:78591794-78619903 (-)
CBA/J	MGP_CBAJ_G0017158	protein coding gene	Chr10:84792581-84822973 (-)
DBA/2J	MGP_DBA2J_G0017266	protein coding gene	Chr10:75380637-75410691 (-)
FVB/NJ	MGP_FVBNJ_G0017258	protein coding gene	Chr10:74565974-74590642 (-)
LP/J	MGP_LPJ_G0017337	protein coding gene	Chr10:79334015-79362031 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0017285	protein coding gene	Chr10:86759454-86787519 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0017861	protein coding gene	Chr10:78226433-78258548 (-)
PWK/PhJ	MGP_PWKPhJ_G0016538	protein coding gene	Chr10:75263416-75292226 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0016323	protein coding gene	Chr10:77430187-77459077 (-)
WSB/EiJ	MGP_WSBEiJ_G0016816	protein coding gene	Chr10:78217833-78245896 (-)

Human Ortholog

PDXK, pyridoxal kinase

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

PDXK, pyridoxal kinase
Synonyms

C21orf124, C21orf97, HEL-S-1a, HMSN6C, PKH, PNK, PRED79
Links

HGNC:8819

NCBI Gene ID: 8566

neXtProt AC: NX_O00764

UniProt: O00764
Chr Location

21q22.3; chr21:43719094-43762307 (+) GRCh38

MGI Vertebrate Homology

Pdxk stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: PDXK
Gene Tree

Pdxk

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References

2 with disease annotations

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Phenotype Summary

1 phenotype from 1 allele in 1 genetic background
40 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

12
Chemically induced (other)

1
Endonuclease-mediated

4
Gene trapped

1
Targeted

6
Genomic Mutations

3 involving Pdxk
Find Mice (IMSR)

31 strains or lines available

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All GO Annotations

42
GO References

8

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

1094
Tissues

185
cDNA Data

19
Literature Summary

6

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase pdxk

ZFIN pdxka

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All Sequences

52
RefSeq

2
UniProt

1
CCDS

CCDS23965.1

Ensembl

ENSMUSG00000032788 (Evidence)
NCBI Gene

216134

			Length	Strain/Species	Flank
genomic	216134	NCBI Gene Model \| MGI Sequence Detail	28202	C57BL/6J	± kb
transcript	NM_172134	RefSeq \| MGI Sequence Detail	5110	FVB/N
polypeptide	Q8K183	UniProt \| EBI \| MGI Sequence Detail	312	Not Applicable

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UniProt

1 Sequence
Protein Ontology

PR:000012524 pyridoxal kinase

(term hierarchy)
PDB

6YJZ, 6YK0, 6YK1
EC

2.7.1.35
InterPro Domains

IPR013749 Pyridoxamine kinase/Phosphomethylpyrimidine kinase

IPR004625 Pyridoxine kinase

IPR029056 Ribokinase-like
GlyGen

Q8K183 1 site, 1 O-linked glycan (1 site)

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All nucleic 33

Genomic 11

cDNA 20

Primer pair 1

Other 1

Microarray probesets 6

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MGI:1916848, MGI:2143917, MGI:3034915

Summaries

All 78

Developmental Gene Expression 6

Diseases 2

Gene Ontology 8

Phenotypes 40
Earliest

J:336443 Hamfelt A, Pyridoxal kinase activity in blood cells. Clin Chim Acta. 1967 Apr;16(1):7-18
Latest

J:357279 Donovan MG, et al., Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome. Cell Rep. 2024 Aug 27;43(8):114599

TSS for Pdxk:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr98311	Chr10:78300803-78300821 (-)	-30 bp
Tssr98310	Chr10:78300779-78300799 (-)	-7 bp
Tssr98309	Chr10:78300721-78300778 (-)	32 bp
Tssr98308	Chr10:78276613-78276638 (-)	24,156 bp
Tssr98307	Chr10:78275530-78275545 (-)	25,244 bp
Tssr98306	Chr10:78275038-78275060 (-)	25,733 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24