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PDXK (pyridoxal kinase)

Identity

Alias_namesC21orf97
C21orf124
chromosome 21 open reading frame 97
chromosome 21 open reading frame 124
Alias_symbol (synonym)PNK
PKH
FLJ21324
PRED79
FLJ31940
MGC15873
Other aliasHEL-S-1a
HGNC (Hugo) PDXK
LocusID (NCBI) 8566
Atlas_Id 56353
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 43741384 and ends at 43762307 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AGPAT3 (21q22.3) / PDXK (21q22.3)C21orf2 (21q22.3) / PDXK (21q22.3)LOC100507412 (-) / PDXK (21q22.3)
PDXK (21q22.3) / LCA5L (21q22.2)PDXK (21q22.3) / RAD9A (11q13.2)PDXK (21q22.3) / SYNJ1 (21q22.11)
SYNJ1 (21q22.11) / PDXK (21q22.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PDXK   8819
Cards
Entrez_Gene (NCBI)PDXK  8566  pyridoxal kinase
AliasesC21orf124; C21orf97; HEL-S-1a; PKH; 
PNK; PRED79
GeneCards (Weizmann)PDXK
Ensembl hg19 (Hinxton)ENSG00000160209 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000160209 [Gene_View]  chr21:43741384-43762307 [Contig_View]  PDXK [Vega]
ICGC DataPortalENSG00000160209
TCGA cBioPortalPDXK
AceView (NCBI)PDXK
Genatlas (Paris)PDXK
WikiGenes8566
SOURCE (Princeton)PDXK
Genetics Home Reference (NIH)PDXK
Genomic and cartography
GoldenPath hg38 (UCSC)PDXK  -     chr21:43741384-43762307 +  21q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PDXK  -     21q22.3   [Description]    (hg19-Feb_2009)
EnsemblPDXK - 21q22.3 [CytoView hg19]  PDXK - 21q22.3 [CytoView hg38]
Mapping of homologs : NCBIPDXK [Mapview hg19]  PDXK [Mapview hg38]
OMIM179020   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001331030 NM_003681 NM_021941
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PDXK
Cluster EST : UnigeneHs.284491 [ NCBI ]
CGAP (NCI)Hs.284491
Alternative Splicing GalleryENSG00000160209
Gene ExpressionPDXK [ NCBI-GEO ]   PDXK [ EBI - ARRAY_EXPRESS ]   PDXK [ SEEK ]   PDXK [ MEM ]
Gene Expression Viewer (FireBrowse)PDXK [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8566
GTEX Portal (Tissue expression)PDXK
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00764   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00764  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00764
Splice isoforms : SwissVarO00764
Catalytic activity : Enzyme2.7.1.35 [ Enzyme-Expasy ]   2.7.1.352.7.1.35 [ IntEnz-EBI ]   2.7.1.35 [ BRENDA ]   2.7.1.35 [ KEGG ]   
PhosPhoSitePlusO00764
Domains : Interpro (EBI)PM/HMP-P_kinase-1    PyrdxlKinase    Ribokinase-like   
Domain families : Pfam (Sanger)Phos_pyr_kin (PF08543)   
Domain families : Pfam (NCBI)pfam08543   
Conserved Domain (NCBI)PDXK
DMDM Disease mutations8566
Blocks (Seattle)PDXK
PDB (SRS)2AJP    2F7K    2YXT    2YXU    3FHX    3FHY    3KEU    4EN4    4EOH   
PDB (PDBSum)2AJP    2F7K    2YXT    2YXU    3FHX    3FHY    3KEU    4EN4    4EOH   
PDB (IMB)2AJP    2F7K    2YXT    2YXU    3FHX    3FHY    3KEU    4EN4    4EOH   
PDB (RSDB)2AJP    2F7K    2YXT    2YXU    3FHX    3FHY    3KEU    4EN4    4EOH   
Structural Biology KnowledgeBase2AJP    2F7K    2YXT    2YXU    3FHX    3FHY    3KEU    4EN4    4EOH   
SCOP (Structural Classification of Proteins)2AJP    2F7K    2YXT    2YXU    3FHX    3FHY    3KEU    4EN4    4EOH   
CATH (Classification of proteins structures)2AJP    2F7K    2YXT    2YXU    3FHX    3FHY    3KEU    4EN4    4EOH   
SuperfamilyO00764
Human Protein AtlasENSG00000160209
Peptide AtlasO00764
HPRD01526
IPIIPI00013004   IPI00216320   IPI00980183   IPI00791490   IPI00418202   IPI00792777   IPI00793433   
Protein Interaction databases
DIP (DOE-UCLA)O00764
IntAct (EBI)O00764
FunCoupENSG00000160209
BioGRIDPDXK
STRING (EMBL)PDXK
ZODIACPDXK
Ontologies - Pathways
QuickGOO00764
Ontology : AmiGOmagnesium ion binding  ATP binding  extracellular region  nucleus  cytosol  cytosol  zinc ion binding  cell proliferation  pyridoxal kinase activity  pyridoxal kinase activity  pyridoxal 5'-phosphate salvage  phosphorylation  pyridoxal phosphate binding  potassium ion binding  sodium ion binding  lithium ion binding  secretory granule lumen  specific granule lumen  protein homodimerization activity  vitamin B6 metabolic process  vitamin B6 metabolic process  vitamin B6 metabolic process  pyridoxal phosphate biosynthetic process  neutrophil degranulation  extracellular exosome  
Ontology : EGO-EBImagnesium ion binding  ATP binding  extracellular region  nucleus  cytosol  cytosol  zinc ion binding  cell proliferation  pyridoxal kinase activity  pyridoxal kinase activity  pyridoxal 5'-phosphate salvage  phosphorylation  pyridoxal phosphate binding  potassium ion binding  sodium ion binding  lithium ion binding  secretory granule lumen  specific granule lumen  protein homodimerization activity  vitamin B6 metabolic process  vitamin B6 metabolic process  vitamin B6 metabolic process  pyridoxal phosphate biosynthetic process  neutrophil degranulation  extracellular exosome  
Pathways : KEGGVitamin B6 metabolism   
NDEx NetworkPDXK
Atlas of Cancer Signalling NetworkPDXK
Wikipedia pathwaysPDXK
Orthology - Evolution
OrthoDB8566
GeneTree (enSembl)ENSG00000160209
Phylogenetic Trees/Animal Genes : TreeFamPDXK
HOVERGENO00764
HOGENOMO00764
Homologs : HomoloGenePDXK
Homology/Alignments : Family Browser (UCSC)PDXK
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPDXK [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PDXK
dbVarPDXK
ClinVarPDXK
1000_GenomesPDXK 
Exome Variant ServerPDXK
ExAC (Exome Aggregation Consortium)PDXK (select the gene name)
Genetic variants : HAPMAP8566
Genomic Variants (DGV)PDXK [DGVbeta]
DECIPHERPDXK [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPDXK 
Mutations
ICGC Data PortalPDXK 
TCGA Data PortalPDXK 
Broad Tumor PortalPDXK
OASIS PortalPDXK [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPDXK  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPDXK
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PDXK
DgiDB (Drug Gene Interaction Database)PDXK
DoCM (Curated mutations)PDXK (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PDXK (select a term)
intoGenPDXK
Cancer3DPDXK(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM179020   
Orphanet
MedgenPDXK
Genetic Testing Registry PDXK
NextProtO00764 [Medical]
TSGene8566
GENETestsPDXK
Target ValidationPDXK
Huge Navigator PDXK [HugePedia]
snp3D : Map Gene to Disease8566
BioCentury BCIQPDXK
ClinGenPDXK
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8566
Chemical/Pharm GKB GenePA33162
Clinical trialPDXK
Miscellaneous
canSAR (ICR)PDXK (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePDXK
EVEXPDXK
GoPubMedPDXK
iHOPPDXK
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:24:20 CEST 2017

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