STAR steroidogenic acute regulatory protein [Homo sapiens (human)] - Gene

Summary

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Official Symbol: STARprovided by HGNC
Official Full Name: steroidogenic acute regulatory proteinprovided by HGNC
Primary source: HGNC:HGNC:11359
See related: Ensembl:ENSG00000147465 MIM:600617; AllianceGenome:HGNC:11359
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: STARD1
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]
Expression: Biased expression in adrenal (RPKM 722.2), ovary (RPKM 68.2) and 1 other tissue See more
Orthologs: mouse all
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Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (38142700..38150952, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (38419706..38427956, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (38000218..38008470, complement)

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Acetylation of Steroidogenic Acute Regulatory Protein Sensitizes 17beta-Estradiol Regulation in Hormone-Sensitive Breast Cancer Cells.
Title: Acetylation of Steroidogenic Acute Regulatory Protein Sensitizes 17β-Estradiol Regulation in Hormone-Sensitive Breast Cancer Cells.
Clinical spectrum of human STAR variants and their genotype-phenotype correlation.
Title: Clinical spectrum of human STAR variants and their genotype-phenotype correlation.
Differential regulation of STARD1, STARD4 and STARD6 in the human ovary.
Title: Differential regulation of STARD1, STARD4 and STARD6 in the human ovary.
Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.
Title: Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.
Bone morphogenetic protein-9 downregulates StAR expression by inducing snail expression via SMAD1/5/8 signaling in human granulosa-lutein cells.
Title: Bone morphogenetic protein-9 downregulates StAR expression by inducing snail expression via SMAD1/5/8 signaling in human granulosa-lutein cells.
Impose of KNDy/GnRH neural circuit in PCOS, ageing, cancer and Alzheimer's disease: StAR actions in prevention of neuroendocrine dysfunction.
Title: Impose of KNDy/GnRH neural circuit in PCOS, ageing, cancer and Alzheimer's disease: StAR actions in prevention of neuroendocrine dysfunction.
Downregulation of StAR driven neurosteroid biosynthesis as a distinctive feature in the brains of Alzheimer's disease patients.
Title: Downregulation of StAR driven neurosteroid biosynthesis as a distinctive feature in the brains of Alzheimer's disease patients.
New molecular insights into the A218V variant impact on the steroidogenic acute regulatory protein (STAR) associated with 46, XY disorders of sexual development.
Title: New molecular insights into the A218V variant impact on the steroidogenic acute regulatory protein (STAR) associated with 46, XY disorders of sexual development.
Expression and Function of StAR in Cancerous and Non-Cancerous Human and Mouse Breast Tissues: New Insights into Diagnosis and Treatment of Hormone-Sensitive Breast Cancer.
Title: Expression and Function of StAR in Cancerous and Non-Cancerous Human and Mouse Breast Tissues: New Insights into Diagnosis and Treatment of Hormone-Sensitive Breast Cancer.
Growth differentiation factor-11 downregulates steroidogenic acute regulatory protein expression through ALK5-mediated SMAD3 signaling pathway in human granulosa-lutein cells.
Title: Growth differentiation factor-11 downregulates steroidogenic acute regulatory protein expression through ALK5-mediated SMAD3 signaling pathway in human granulosa-lutein cells.

Submit: New GeneRIF Correction See all GeneRIFs (109)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital lipoid adrenal hyperplasia due to STAR deficency MedGen: C0342474 OMIM: 201710 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study of orthostatic hypotension and supine-standing blood pressure changes in two korean populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

SGC31588 (e-PCR)
- UniSTS:39495

D8S2291 (e-PCR)
- UniSTS:474243

D11S3114 (e-PCR)
- UniSTS:152207

STAR_2298 (e-PCR)
- UniSTS:281033

G15988 (e-PCR)
- UniSTS:7935

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cholesterol binding	IBA Inferred from Biological aspect of Ancestor more info
enables cholesterol binding	IDA Inferred from Direct Assay more info	PubMed
enables cholesterol transfer activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in glucocorticoid metabolic process	IEA Inferred from Electronic Annotation more info
involved_in intracellular cholesterol transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of bile acid biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of steroid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in steroid biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in mitochondrial intermembrane space	TAS Traceable Author Statement more info
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed

General protein information

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Preferred Names: steroidogenic acute regulatory protein, mitochondrial

Names: START domain containing 1; START domain-containing protein 1; StAR related lipid transfer (START) domain containing 1; cholesterol trafficker; mitochondrial steroid acute regulatory protein; steroid acute regulatory protein; steroidogenic acute regulator; testis secretory sperm-binding protein Li 241mP

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011827.1 RefSeqGene

Range

5131..13383

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000349.3 → NP_000340.2 steroidogenic acute regulatory protein, mitochondrial

See identical proteins and their annotated locations for NP_000340.2

Status: REVIEWED

Source sequence(s)

AC084024, AL526126, AV706111, AV706872, AV707696, BC010550, U17280

Consensus CDS

CCDS6102.1

UniProtKB/Swiss-Prot

P49675, Q16396

UniProtKB/TrEMBL

Q6IBK0

Related

ENSP00000276449.3, ENST00000276449.9

Conserved Domains (1) summary

cd08905
Location:70 → 278

START_STARD1-like; Cholesterol-binding START domain of mammalian STARD1 and related proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

38142700..38150952 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060932.1 Alternate T2T-CHM13v2.0

Range

38419706..38427956 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001007243.1: Suppressed sequence

Description

NM_001007243.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript, which aligns to the reference genome with poorly supported non-consensus splice sites.