| Type | Description |
|---|---|
| Definition | StAR related lipid transfer domain containing 3 |
| Date | Results | Publications |
|---|---|---|
| 2018-03-24 12:00:00 | Findings suggest that MLN64 overexpression induces an increase in mitochondrial cholesterol content and consequently a decrease in mitochondrial GSH content leading to mitochondrial dysfunction. In addition, MLN64 expression is increased in Niemann-Pick C1 deficient cells and plays a key role in cholesterol transport into the mitochondria. | 28282615 |
| 2017-11-26 01:38:00 | Study present a rare case of a 46,XY patient with CHD associated with ambiguous genitalia consisting of a clitoris-like phallus and a bifid scrotum. Exome sequencing revealed novel homozygous mutations in the FGFR1 and STARD3 genes that may be associated with the phenotype. | 27055092 |
| 2017-11-25 14:07:00 | Structure of the lutein-binding domain of human StARD3 at 1.74 A resolution and model of a complex with lutein has been presented. | 27487925 |
| 2017-07-15 12:05:00 | Thus, STARD3 is a cholesterol transporter scaffolding endoplasmic reticulum-endosome contacts and modulating cellular cholesterol repartition by delivering cholesterol to endosomes. | 28377464 |
| 2016-12-31 10:04:00 | STARD3 or STARD3NL-mediated ER-endosome contacts, which affect endosome dynamics, are believed to be involved in cholesterol transport | 27068960 |
| Type | IDs |
|---|---|
| Synonymous | CAB1, MLN64, es64 |
| Gene |
UniProtKB-ID:
STAR3_HUMAN
UniprotKB:
Q14849
UniParc:
UPI000013CE10,
UPI0001B95A67,
UPI0000D4D5E4
EMBL:
X80198,
AK300176,
AK300842,
BC025679,
D38255,
BC008356,
AC087491,
BC008747,
BT006964
Ensembl:
ENSG00000131748
KO:
hsa:10948
|
| Nucleutide sequences |
EMBL-CDS:
BAG62493.1,
AAH08356.1,
AAH25679.1,
AAH08747.1,
BAA22525.1,
CAA56489.1,
BAG61955.1,
AAP35610.1
Ensembl_TRS:
ENST00000336308,
ENST00000544210,
ENST00000394250
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000377794,
ENSP00000439869,
ENSP00000337446
RefSeq:
NP_001159410.1,
XP_016879530.1,
XP_024306317.1,
NP_001159409.1,
NP_006795.3
|
| Others |
UniRef100:
UniRef100_Q14849
UniRef90:
UniRef90_Q14849
UniRef50:
UniRef50_Q14849
UniGene:
Hs.728838
CCDS:
CCDS11341.1,
CCDS54117.1,
CCDS54118.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| 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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