| Type | Description |
|---|---|
| Definition | iron-sulfur cluster assembly 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-08-31 13:28:00 | hHmozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome | 28615675 |
| 2018-03-31 11:46:00 | the phenotype observed in all affected subjects with the ISCA1 pathogenic variant is similar to that previously described in all four types of multiple mitochondrial dysfunctions syndromes. | 28356563 |
| 2014-06-28 13:02:00 | The structural plasticity of the dimeric state of the [2Fe-2S] bound form of human GRX5 is the crucial factor that allows an efficient cluster transfer to the partner proteins human ISCA1 and ISCA2 by a specific protein-protein recognition mechanism. | 24733926 |
| 2014-02-22 10:53:00 | The data presented here show that the Isu1 suppressor mimics the frataxin effects on Nfs1, explaining the bypassing activity. | 24217246 |
| 2012-09-15 10:47:00 | ISCA1, ISCA2, and IBA57 were depleted by RNA interference. Depleted cells contained massively swollen and enlarged mitochondria that were virtually devoid of cristae membranes, demonstrating the importance of these proteins for mitochondrial biogenesis. | 22323289 |
| Type | IDs |
|---|---|
| Synonymous | HBLD2, ISA1, MMDS5, hIscA |
| Gene |
UniProtKB-ID:
ISCA1_HUMAN
UniprotKB:
Q9BUE6
UniParc:
UPI000007259F,
UPI0000EE553F
EMBL:
AK296093,
BC071621,
AK055643,
BC002675,
CH471089,
AF284752,
AL834356,
AL137849,
AY015642
Ensembl:
ENSG00000135070
KO:
hsa:81689
|
| Nucleutide sequences |
EMBL-CDS:
AAH71621.1,
EAW62713.1,
AAG59854.1,
BAG51546.1,
AAH02675.1,
BAG58847.1,
CAD39021.1,
AAG40950.1
Gene_ORFName:
GK004
Ensembl_TRS:
ENST00000375991
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000365159
RefSeq:
NP_112202.2
|
| Others |
UniRef100:
UniRef100_Q9BUE6
UniRef90:
UniRef90_Q9BUE6
UniRef50:
UniRef50_Q9BUE6
UniGene:
Hs.449291
CCDS:
CCDS35056.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
{{protein.nucleotideVersion}}
Ensembl: {{protein.nucleotideEnsembl}} |
{{protein.proteinVersion}}
Ensembl: {{protein.proteinEnsembl}} |
{{uniprot}} , |
Definition: {{{protein.definition}}}Transcript Veriant:{{protein.transcriptVeriant}} Status: {{protein.status}} |
||||
| 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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
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}} - |
{{conservedDomain.comments == '' || conservedDomain.comments == null ? "-" : conservedDomain.comments }} |
||||
暂无数据
| 排名 | 科研单位 | 文献 |
|---|---|---|
| {{affIndex+1}} |
{{aff.value}} |
{{aff.size}} |
目前还没有研究热点单位
| 排名 | 研究人员 | 文献 |
|---|---|---|
| {{authorIndex+1}} |
{{author.value}} |
{{author.size}} |
目前还没有研究热点人员