| Type | Description |
|---|---|
| Definition | bolA family member 3 |
| Date | Results | Publications |
|---|---|---|
| 2020-07-18 12:32:00 | BOLA3 can form a functional homodimer capable of engaging in Fe-S cluster transfer | 31486956 |
| 2020-04-11 11:48:00 | this study shows that BOLA3 deficiency controls endothelial metabolism and glycine homeostasis in pulmonary hypertension | 30759996 |
| 2014-04-12 11:27:00 | Clinical features of BOLA3-associated variant nonketotic hyperglycemia include severe neurodegeneration after a period of normal development. | 24334290 |
| 2013-09-28 12:01:00 | BOLA3 plays a crucial role in the biogenesis of iron-sulfur clusters. | 22562699 |
| 2011-12-17 11:40:00 | Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes [case report] | 21944046 |
| Type | IDs |
|---|---|
| Synonymous | MMDS2 |
| Gene |
UniProtKB-ID:
BOLA3_HUMAN,
Q8N338_HUMAN
UniprotKB:
Q53S33,
Q8N338
UniParc:
UPI0000160B51,
UPI000007183D,
UPI00001D7CD7
EMBL:
BC028282,
AA316348,
AC073263,
DQ225187,
CH471053
Ensembl:
ENSG00000163170
KO:
hsa:388962
|
| Nucleutide sequences |
EMBL-CDS:
EAW99700.1,
ABB04094.1,
AAX93059.1,
AAH28282.1
Ensembl_TRS:
ENST00000327428,
ENST00000295326
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000331369,
ENSP00000295326
RefSeq:
NP_001030582.1,
NP_997717.2
|
| Others |
UniRef100:
UniRef100_Q53S33,
UniRef100_Q8N338
UniRef90:
UniRef90_G3RV90,
UniRef90_Q53S33
UniRef50:
UniRef50_Q53S33,
UniRef50_A0A2Y9HZU1
UniGene:
Hs.61472
CCDS:
CCDS33224.1,
CCDS33225.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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