| Type | Description |
|---|---|
| Definition | nucleotide binding protein like |
| Date | Results | Publications |
|---|---|---|
| 2020-11-21 13:13:00 | Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement. | 31787496 |
| 2020-09-19 16:28:00 | Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy. | 30897263 |
| 2019-04-27 11:52:00 | 5 missense variants in NUBPL gene were compared. The resulting NUBPL/Ind1 protein variants were tested in Yarrowia lipolytica for protein stability and complex I levels, oxidoreductase activity and assembly intermediates. 4 missense mutations are pathogenic, and mutants are sensitive to low temperature. | 29982452 |
| 2018-01-27 10:37:00 | huInd1 binds to the untranslated region of the TEM-1 mRNA at 3' site and thereby reducing the possibility of its endonucleolytic cleavage, resulting in over-expression of TEM-1. | 25240856 |
| 2017-09-16 12:23:00 | Inhibition of ERK suppressed the NUBPL-induced changes in EMT and cell motility. | 28346728 |
| Type | IDs |
|---|---|
| Synonymous | C14orf127, IND1, MC1DN21, huInd1 |
| Gene |
UniProtKB-ID:
NUBPL_HUMAN,
B3KSK2_HUMAN,
X5D2R5_HUMAN,
B4DWB0_HUMAN
UniprotKB:
Q8TB37,
B3KSK2,
X5D2R5,
B4DWB0
UniParc:
UPI00003669AB,
UPI00017A8283,
UPI000178DFAD,
UPI0000246CA5
EMBL:
AK022722,
AK093789,
CH471078,
KJ534909,
AK316445,
BC024919,
AK301447,
AK295326,
BX248028
Ensembl:
ENSG00000151413
KO:
hsa:80224
|
| Nucleutide sequences |
EMBL-CDS:
BAH14816.1,
CAD62349.1,
EAW65942.1,
AAH24919.1,
BAB14203.1,
BAG58303.1,
BAG52764.1,
AHW56549.1,
BAG62972.1
Ensembl_TRS:
ENST00000281081,
ENST00000547839
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000449918,
ENSP00000281081
RefSeq:
XP_016877156.1,
XP_016877155.1,
XP_011535486.1,
NP_079428.2,
XP_016877153.1,
XP_011535485.1,
XP_016877154.1,
NP_001188503.1,
XP_011535484.1,
NP_001188502.1,
XP_011535483.1
|
| Others |
UniRef100:
UniRef100_B4DWB0,
UniRef100_Q8TB37
UniRef90:
UniRef90_Q8TB37,
UniRef90_B4DWB0
UniRef50:
UniRef50_Q8TB37,
UniRef50_U3JTL8
UniGene:
Hs.288981
CCDS:
CCDS41940.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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