| Type | Description |
|---|---|
| Definition | iron-sulfur cluster assembly enzyme |
| Date | Results | Publications |
|---|---|---|
| 2019-06-08 12:54:00 | Study reports 3.2 A resolution cryo-electron microscopy structure of the FXN-bound active human iron-sulfur clusters biosynthesis complex. FXN binds at the interface of two NFS1 and one ISCU subunits, modifying the local environment of a bound zinc ion that would otherwise inhibit NFS1 activity in complexes without FXN. | 31101807 |
| 2018-12-01 11:52:00 | identifies an important regulatory role for zinc-bound ISCU in modulation of the human Fe-S assembly system in vitro and reports no 'FXN bypass' effect on mutations at position Met140 in human ISCU | 30031876 |
| 2018-07-07 11:09:00 | we report the first heterozygous dominant mutation in ISCU; notably, this alteration resulted in a similar phenotype as the recessive ISCU disease previously described. | 29079705 |
| 2018-05-12 10:30:00 | When ISCU was replaced by the fully structured variant ISCU(M108I), the addition of rdFDX2 to the [NIA-ISCU(M108I)-FXN]2 complex led to the release of FXN. Thus, the displacement of FXN by rdFDX2 explains the failure of FXN to stimulate Fe-S cluster assembly on ISCU(M108I). | 29406711 |
| 2017-07-29 12:41:00 | We have shown that ASO treatment diminished aberrant splicing and increased ISCU protein levels in both patient fibroblasts and patient myotubes in a concentration dependent fashion. Upon ASO treatment, levels of SDHB in patient myotubular cell lines increased to levels observed in control myotubular cell lines | 28007899 |
| Type | IDs |
|---|---|
| Synonymous | 2310020H20Rik, HML, ISU2, NIFU, NIFUN, hnifU |
| Gene |
UniProtKB-ID:
ISCU_HUMAN,
B3KQ30_HUMAN,
A0A024RBI3_HUMAN,
B4DNC9_HUMAN,
B1P7G3_HUMAN
UniprotKB:
Q9H1K1,
B3KQ30,
A0A024RBI3,
B4DNC9,
B1P7G3
UniParc:
UPI000021CA9A,
UPI000007018B,
UPI00001A83FB,
UPI00017A77CF,
UPI00001FB49E
EMBL:
EU329002,
AC008119,
BC061903,
CH471054,
AY009128,
FJ695196,
U47101,
EU334585,
AY009127,
BC011906,
AK297862,
AK057251
Ensembl:
ENSG00000136003
KO:
hsa:23479
|
| Nucleutide sequences |
EMBL-CDS:
AAC50885.1,
AAH61903.1,
AAG37427.1,
AAG37428.1,
AAH11906.1,
BAG51892.1,
EAW97820.1,
EAW97822.1,
BAG60191.1,
ACA34743.1,
ACA52543.1
Gene_ORFName:
hCG_15702
Ensembl_TRS:
ENST00000392807,
ENST00000311893,
ENST00000431221,
ENST00000547005,
ENST00000535729
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000376554,
ENSP00000310623,
ENSP00000411108,
ENSP00000445598,
ENSP00000446606
RefSeq:
XP_011536402.1,
XP_011536403.1,
NP_998760.1,
NP_001288070.1,
NP_001306971.1,
NP_055116.1,
NP_001288069.1
|
| Others |
UniRef100:
UniRef100_B1P7G3,
UniRef100_Q9H1K1,
UniRef100_B4DNC9,
UniRef100_B3KQ30,
UniRef100_A0A024RBI3
UniRef90:
UniRef90_Q9H1K1,
UniRef90_B1P7G3,
UniRef90_A0A2I3MQ36,
UniRef90_A0A671G0H5,
UniRef90_A0A0D9S2S6
UniRef50:
UniRef50_Q9MAB6,
UniRef50_Q944M9,
UniRef50_A0A1E3P8L8,
UniRef50_Q9H1K1
UniGene:
Hs.615131
CCDS:
CCDS9118.1,
CCDS44966.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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