|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
8566
|
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Pyridoxal kinase |
|
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
PDXK |
|
Synonyms (NCBI Gene)
Gene synonyms aliases
|
C21orf124, C21orf97, HEL-S-1a, HMSN6C, PKH, PNK, PRED79 |
|
Chromosome
Chromosome number
|
21 |
|
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
21q22.3 |
|
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene phosphorylates vitamin B6, a step required for the conversion of vitamin B6 to pyridoxal-5-phosphate, an important cofactor in intermediary metabolism. The encoded protein is cytoplasmic and probably acts as a homodimer. A |
| UniProt ID |
O00764
|
| Protein name |
Pyridoxal kinase (EC 2.7.1.35) (Pyridoxine kinase) |
| Protein function |
Catalyzes the phosphorylation of the dietary vitamin B6 vitamers pyridoxal (PL), pyridoxine (PN) and pyridoxamine (PM) to form pyridoxal 5'-phosphate (PLP), pyridoxine 5'-phosphate (PNP) and pyridoxamine 5'-phosphate (PMP), respectively (Probabl |
| PDB |
2AJP
,
2F7K
,
2YXT
,
2YXU
,
3FHX
,
3FHY
,
3KEU
,
4EN4
,
4EOH
,
8WR2
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
|
PF08543
|
Phos_pyr_kin |
70 → 284 |
Phosphomethylpyrimidine kinase |
Family |
|
| Tissue specificity |
TISSUE SPECIFICITY: Ubiquitous (PubMed:31187503, PubMed:9099727). Highly expressed in testis (PubMed:9099727). {ECO:0000269|PubMed:31187503, ECO:0000269|PubMed:9099727}.; TISSUE SPECIFICITY: [Isoform 3]: In adult testis and spermatozoa. {ECO:0000269|PubMe |
| Sequence |
|
| Sequence length |
312 |
| Interactions |
View interactions
|
|
Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
|
| Disease merge term |
Disease name |
dbSNP ID |
References |
| Hereditary sensory and autonomic neuropathy |
Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy |
rs757480516, rs759333796, rs1601814238 |
N/A |
|
|
Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
|
| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Breast Cancer |
Breast cancer |
N/A |
N/A |
GWAS |
| Coronary artery disease |
Coronary artery disease |
N/A |
N/A |
GWAS |
| Hypertension |
Hypertension (PheCode 401), Essential hypertension (PheCode 401.1) |
N/A |
N/A |
GWAS |
|
|
Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Blindness |
Associate
|
31187503 |
| Carcinoma Hepatocellular |
Associate
|
36750831 |
| Carcinoma Non Small Cell Lung |
Associate
|
23343765, 26387143 |
| Glomerulonephritis IGA |
Associate
|
35769467 |
| Glucocorticoid Receptor Deficiency |
Inhibit
|
17696614 |
| Inflammatory Bowel Diseases |
Associate
|
35769467 |
| Optic Atrophy |
Associate
|
31187503 |
| Ovarian Neoplasms |
Associate
|
31973910 |
| Parkinson Disease |
Associate
|
20035503 |
| Peripheral Nervous System Diseases |
Associate
|
31187503 |
| Polyneuropathies |
Associate
|
31187503 |
| Stomach Neoplasms |
Associate
|
39244216 |
|