STAR - steroidogenic acute regulatory protein Gene
Also Known as STARD1
Species: Homo sapiens
About STAR
This gene has 4 transcripts (splice variants), 216 orthologues, 5 paralogues and is associated with 5 phenotypes. Biased expression in adrenal (RPKM 722.2), ovary (RPKM 68.2) and 1 other tissue.
Summary
The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of Cholesterol into pregnenolone. This protein permits the cleavage of Cholesterol into pregnenolone by mediating the transport of Cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008]
STAR Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_000349.3 | NP_000340.2 | steroidogenic acute regulatory protein, mitochondrial |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables cholesterol binding |
IDA
IDA: Inferred from direct assay
|
18403318 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
25416956 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in positive regulation of bile acid biosynthetic process |
IDA
IDA: Inferred from direct assay
|
18403318 | GOA |
STAR Protein Structure
START: START domain (78 - 280)
- 0
- 100
- 200
- 285 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
steroidogenic acute regulatory protein, mitochondrial |
|
STAR Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
STAR | P49675 | MAGEA11 | Homo sapiens | P43364-2 | 25416956 | |
|
Intra
|
STAR | P49675 | AGTRAP | Homo sapiens | Q6RW13-2 | 32296183 | |
|
Intra
|
STAR | P49675 | AGTRAP | Homo sapiens | Q6RW13-2 | 32296183 | |
|
Intra
|
STAR | P49675 | AGTRAP | Homo sapiens | Q6RW13-2 | 32296183 | |
|
Intra
|
STAR | P49675 | MAGEA11 | Homo sapiens | G5E962 | 25910212 | |
|
Intra
|
STAR | P49675 | MAGEA11 | Homo sapiens | G5E962 | 25910212 | |
|
Intra
|
STAR | P49675 | MAGEA11 | Homo sapiens | G5E962 | 25910212 | |
|
Intra
|
STAR | P49675 | SMPD2 | Homo sapiens | O60906 | 32296183 | |
|
Intra
|
STAR | P49675 | SMPD2 | Homo sapiens | O60906 | 32296183 | |
|
Intra
|
STAR | P49675 | DGAT2L6 | Homo sapiens | Q6ZPD8 | 32296183 | |
|
Intra
|
STAR | P49675 | DGAT2L6 | Homo sapiens | Q6ZPD8 | 32296183 | |
|
Intra
|
STAR | P49675 | DGAT2L6 | Homo sapiens | Q6ZPD8 | 32296183 | |
|
Intra
|
STAR | P49675 | CMTM4 | Homo sapiens | Q8IZR5-2 | 32296183 | |
|
Intra
|
STAR | P49675 | CMTM4 | Homo sapiens | Q8IZR5-2 | 32296183 | |
|
Intra
|
STAR | P49675 | CMTM4 | Homo sapiens | Q8IZR5-2 | 32296183 | |
|
Intra
|
STAR | P49675 | RABEP1 | Homo sapiens | Q15276 | 32296183 | |
|
Intra
|
STAR | P49675 | RABEP1 | Homo sapiens | Q15276 | 32296183 | |
|
Intra
|
STAR | P49675 | RABEP1 | Homo sapiens | Q15276 | 32296183 | |
|
Intra
|
STAR | P49675 | STX8 | Homo sapiens | Q9UNK0 | 32296183 | |
|
Intra
|
STAR | P49675 | MAGEA11 | Homo sapiens | P43364 | 26871637 | |
|
Intra
|
STAR | P49675 | MAGEA11 | Homo sapiens | P43364 | 26871637 | |
|
Intra
|
STAR | P49675 | MAGEA11 | Homo sapiens | P43364 | 32296183 | |
|
Intra
|
STAR | P49675 | MAGEA11 | Homo sapiens | P43364 | 32296183 | |
|
Intra
|
STAR | P49675 | MAGEA11 | Homo sapiens | P43364 | 26871637 |
STAR Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81192 | StAR Antibody (YA3542) | WB | Human, Mouse |
| HY-P81192A | StAR Antibody (YA3542)(PBS only) | WB | Human, Mouse |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Lipoid Congenital Adrenal Hyperplasia |
|
|
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
|
| Classic Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
|
| Non-Classic Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
|
| Familial Glucocorticoid Deficiency |
|
|
| Adrenal Hypoplasia, Congenital |
|
|
| Leydig Cell Tumor |
|
|
| Polycystic Ovary Syndrome |
|
|
| Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
|
| Steroid Inherited Metabolic Disorder |
|
|
| 46,Xy Sex Reversal 2 |
|
|
| Hypoadrenocorticism, Familial |
|
|
| Pseudohermaphroditism |
|
|
| Smith-Lemli-Opitz Syndrome |
|
|
| Adrenal Cortical Carcinoma |
|
|
| Endometriosis |
|
|
| Adrenal Carcinoma |
|
|
| Leydig Cell Hypoplasia |
|
|
| 46,Xy Sex Reversal |
|
|
| Schizophrenia 14 |
|
|
| Luteoma |
|
|
| Corticosterone Methyloxidase Type I Deficiency |
|
|
| Conn'S Syndrome |
|
|
| Premature Ovarian Failure 1 |
|
|
| Adrenal Cortical Hypofunction |
|
|
| Malignant Secondary Hypertension |
|
|
| Disorder Of Sexual Development |
|
|
| Adrenal Gland Disease |
|
|
| Adrenal Cortex Disease |
|
|
| Premature Menopause |
|
|
| Cryptorchidism, Unilateral Or Bilateral |
|
|
| Lipid Metabolism Disorder |
|
|
| Amelogenesis Imperfecta |
|
|
| Body Mass Index Quantitative Trait Locus 11 |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | STAR | VGNC | VGNC:103871 |
| Mus musculus | STAR | MGD | MGI:102760 |
| Bos taurus | STAR | VGNC | VGNC:35360 |
| Rattus norvegicus | STAR | RGD | RGD:3770 |
| Canis familiaris | STAR | VGNC | VGNC:46880 |
| Felis catus | STAR | VGNC | VGNC:65750 |
| Others | STAR | NCBI |