| Type | Description |
|---|---|
| Definition | NAD kinase 2, mitochondrial |
| Date | Results | Publications |
|---|---|---|
| 2019-03-02 10:31:00 | Our findings also clarify the mechanism underlying NADK2 deficiency and suggest that this disease should be ruled out in cases of hyperlysinemia, especially those with visual loss, and neurological phenotypes. | 29388319 |
| 2017-06-24 11:27:00 | The use of whole exome sequencing has allowed us to identify a new homozygous mutation in NADK2, leading to a premature stop codon and absence of protein. To our knowledge this is the second reported individual with mutations in NADK2. | 27940755 |
| 2014-05-29 12:27:00 | An autosomal recessive defect in NADK2 causes mitochondrial NADPH deficiency with secondary deficiencies in several mitochondrial processes including polyunsaturated fatty acid oxidation and lysine degradation. | 24847004 |
| 2013-06-15 11:33:00 | exhibits NAD kinase activity, utilizing ATP or inorganic polyphosphate, and is localized in mitochondria of HEK293A cells | 23212377 |
| 2013-05-01 12:57:00 | MNADK is localized to mitochondria in Hep G2 cells, and a recombinant MNADK showed NAD kinase activity. MNADK is abundant in mitochondrion-rich tissues, such as liver. MNADK expression was suppressed in human liver tumors. Identification of MNADK immediately suggests a model in which NADK and MNADK are responsible for de novo synthesis of NADP(+) in cytosol and mitochondria, respectively. | 23616928 |
| Type | IDs |
|---|---|
| Synonymous | C5orf33, DECRD, MNADK, NADKD1 |
| Gene |
UniProtKB-ID:
NAKD2_HUMAN,
A0A024R048_HUMAN,
B7Z8V7_HUMAN
UniprotKB:
Q4G0N4,
A0A024R048,
B7Z8V7
UniParc:
UPI000150640C,
UPI0001588796,
UPI00000700E8,
UPI0001915202
EMBL:
AY360463,
BC045565,
BC062567,
AK055158,
AC008807,
AC008942,
CH471119,
AK304009
Ensembl:
ENSG00000152620
KO:
hsa:133686
|
| Nucleutide sequences |
EMBL-CDS:
AAH62567.1,
AAQ62967.1,
BAB70864.1,
EAW55941.1,
EAW55940.1,
EAW55939.1,
BAH14093.1
Gene_ORFName:
hCG_37582
Ensembl_TRS:
ENST00000381937,
ENST00000397338,
ENST00000514504,
ENST00000282512,
ENST00000506945
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000371362,
ENSP00000380499,
ENSP00000282512,
ENSP00000421029,
ENSP00000422250
RefSeq:
NP_001078880.1,
XP_005248298.1,
NP_001274270.1,
NP_694558.1,
XP_024310128.1,
NP_001274269.1
|
| Others |
UniRef100:
UniRef100_B7Z8V7,
UniRef100_Q4G0N4
UniRef90:
UniRef90_Q4G0N4,
UniRef90_A0A287BBX3
UniRef50:
UniRef50_Q4G0N4
UniGene:
Hs.81907
CCDS:
CCDS47197.1,
CCDS3917.1
|
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|---|---|---|---|---|---|---|---|---|
| Refseq |
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