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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

STAR Gene

protein-coding GIFtS: 64
GCID: GC08M038018

steroidogenic acute regulatory protein

(Previous name: steroidogenic acute regulator )

Explore 46 diseases affiliated with
STAR via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Steroidogenic Acute Regulatory Protein¹ ²		Mitochondrial Steroid Acute Regulatory Protein²
STARD1¹ ² ³		StAR-Related Lipid Transfer (START) Domain Containing 1²
Steroidogenic Acute Regulator¹ ²		START Domain Containing 1²
StAR¹ ³		Steroid Acute Regulatory Protein²
START Domain-Containing Protein 1² ³		Steroidogenic Acute Regulatory Protein, Mitochondrial²
Cholesterol Trafficker²		StARD1³

External Ids:	HGNC: 11359¹	Entrez Gene: 6770²	Ensembl: ENSG00000147465⁷	OMIM: 600617⁵	UniProtKB: P49675³

Export aliases for STAR gene to outside databases

Previous GC identifers: GC08P037424 GC08M038129 GC08M037742 GC08M038120 GC08M036535

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for STAR:

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)

UniProtKB/Swiss-Prot: STAR_HUMAN, P49675

Function: Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone.

Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where

it is cleaved to pregnenolone

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_167187.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the STAR gene promoter:
AP-1 ATF-2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: STAR promoter sequence

Search SABiosciences Chromatin IP Primers for STAR

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat STAR

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p11.2 Ensembl cytogenetic band: 8p11.23 HGNC cytogenetic band: 8p11.2

STAR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M038018: view genomic region (about GC identifiers)

Start:	38,000,218 bp from pter	End:	38,008,783 bp from pter
Size:	8,566 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: STAR_HUMAN, P49675 (See protein sequence)

Recommended Name: Steroidogenic acute regulatory protein, mitochondrial precursor

Size: 285 amino acids; 31914 Da

Subunit: May interact with TSPO (By similarity)

Subcellular location: Mitochondrion

3 PDB 3D structures from and Proteopedia for STAR:

1IMG (3D)

2I93 (3D)

3P0L (3D)

Secondary accessions: Q16396

Explore the universe of human proteins at neXtProt for STAR: NX_P49675

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P49675

STAR Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000340.2

ENSEMBL proteins:

ENSP00000276449 ENSP00000431082 ENSP00000429009 ENSP00000430030

Reactome Protein details: P49675
Human Recombinant Protein Products:

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	GenScript Custom Purified and Recombinant Proteins Services for STAR
	Novus Biologicals STAR Proteins Novus Biologicals STAR Lysate
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for STAR
	Uscn Proteins for STAR

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	--	--
GO:0005758	mitochondrial intermembrane space	TAS	--
GO:0005829	cytosol	IEA	--
GO:0030061	mitochondrial crista	IEA	--
GO:0043005	neuron projection	IEA	--

STAR for ontologies About GeneDecksing

STAR Antibody Products:

	Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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	Cell Signaling Technology (CST) Antibodies for STAR
	OriGene Antibodies (see all 2): STAR OriGene Custom Antibody Services for STAR
	GenScript Superior Antibodies for STAR
	Novus Biologicals STAR Antibodies
	Abcam antibodies for STAR
	Uscn Antibodies for STAR
	ThermoFisher Antibodies for STAR

Assay Products for STAR:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
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	GenScript Custom Assay Services for STAR
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for STAR

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

STAR for domains About GeneDecksing

3 InterPro domains/families:

IPR000799 StAR

IPR023393 START-like_dom

IPR002913 START_lipid-bd_dom

Graphical View of Domain Structure for InterPro Entry P49675

ProtoNet protein and cluster: P49675

2 Blocks protein families:

IPB000799 Steroidogenic acute regulatory protein signature

IPB002913 Lipid-binding START

UniProtKB/Swiss-Prot: STAR_HUMAN, P49675

Similarity: Contains 1 START domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: STAR_HUMAN, P49675

Function: Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone.

Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where

it is cleaved to pregnenolone

Genatlas biochemistry entry for STAR:

steroidogenic acute regulatory protein,mediating rapid increase in pregnenolone synthesis by tropic hormones,also

involved in the activity of the mitochondrial cholesterol metabolizing enzymes,acting on the outside of mitochondria

to stimulate the steroidogenesis regulated by CEBPB and repressed by DAX1

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat STAR
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate STAR:
		hsa-miR-1179 hsa-miR-4301
		SwitchGear 3'UTR luciferase reporter plasmid: STAR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STAR (see all 7) OriGene shRNA RFP: STAR OriGene siRNA: STAR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STAR

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for STAR

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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		GenScript: all cDNA clones in your preferred vector: STAR (NM_000349)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STAR

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for STAR
		Search LifeMap BioReagents cell lines for STAR

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STAR

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0015485	cholesterol binding	IEA	--
GO:0017127	cholesterol transporter activity	IEA	--

STAR for ontologies About GeneDecksing

3 GenomeRNAi human phenotypes for STAR:

Increased number of cells in m

Synthetic lethal with Ras

Upregulation of Wnt/beta-caten

Animal Models:
Mouse knock-out Star^tm1Klp for STAR
5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Star):

endocrine/exocrine gland

growth/size

homeostasis/metabolism

mortality/aging

reproductive system

STAR for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Metabolism

Metabolism

1.00

Metabolism of lipids and lipoproteins

0.34

PKA activation in glucagon signalling

Development_Role of Activin A in cell differentiation and proliferation

0.33

Development Role of Activin A in cell differentiation and proliferation

0.33

Vitamin D (calciferol) metabolism

Metabolism of steroid hormones and vitamin D

0.27

Steroid hormones

0.27

Glucose / Energy Metabolism

Glucose / Energy Metabolism

1.00

Pregnenolone biosynthesis

Pregnenolone biosynthesis

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for STAR

Development Role of Activin A in cell differentiation and proliferation

1 Cell Signaling Technology (CST) Pathway for STAR

Glucose / Energy Metabolism

1 GeneGo (Thomson Reuters) Pathway for STAR

Development Role of Activin A in cell differentiation and proliferation

5 Reactome Pathways for STAR

	Metabolism of steroid hormones and vitamin D
	Metabolism
	Pregnenolone biosynthesis
	Steroid hormones
	Metabolism of lipids and lipoproteins

UniProtKB/Swiss-Prot: STAR_HUMAN, P49675

Pathway: Steroid metabolism; cholesterol metabolism

STAR for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for STAR

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5 Interacting proteins for STAR (P49675^{2, 3} ENSP00000276449⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
FEZ1	Q99689²^,³	MINT-63784 I2D: score=5
CCHCR1	Q8TD31³, ENSP00000379566⁴	I2D: score=2 STRING: ENSP00000379566
LIPE	Q05469³, ENSP00000244289⁴	I2D: score=2 STRING: ENSP00000244289
NUCB2	P80303³, ENSP00000320168⁴	I2D: score=1 STRING: ENSP00000320168
PDZD3	ENSP00000327107⁴	STRING: ENSP00000327107

About this table

Gene Ontology (GO): 5/54 biological process terms (GO ID links to tree view) (see all 54): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006694	steroid biosynthetic process	TAS	7761400
GO:0006699	bile acid biosynthetic process	IEA	--
GO:0006700	C21-steroid hormone biosynthetic process	TAS	--
GO:0006701	progesterone biosynthetic process	IEA	--
GO:0006703	estrogen biosynthetic process	IEA	--

STAR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

STAR for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for STAR
10/71 Novoseek chemical compound relationships for STAR gene (see all 71) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
3beta-hydroxysteroid	88.5	32	15819722 (2), 9888537 (1), 10221587 (1), 12519894 (1) (see all 30)
22r-hydroxycholesterol	83.7	7	16413094 (2), 14711788 (1), 17329077 (1)
steroid	82.1	175	11410589 (4), 10777507 (3), 11181954 (3), 17400803 (3) (see all 99)
cholesterol	79.9	376	18341481 (9), 17301050 (8), 11196443 (6), 12459035 (6) (see all 99)
progesterone	78.4	145	10098511 (6), 12297550 (5), 16469751 (5), 16690799 (4) (see all 70)
testosterone	69.1	46	16930210 (3), 9863627 (2), 20337700 (2), 20083153 (2) (see all 36)
forskolin	63.7	26	11410589 (3), 8961254 (2), 10221587 (2), 10999829 (2) (see all 13)
17beta-hydroxysteroid	58.6	7	17447562 (1), 16700073 (1), 18559981 (1), 11479137 (1) (see all 6)
8-bromo-cyclic amp	58.1	3	16690799 (1), 7761400 (1), 10473624 (1)
epoxomicin	58	3	12530639 (1), 17579211 (1), 17218054 (1)

Search CenterWatch for drugs/clinical trials and news about STAR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for STAR gene (2 alternative transcripts):

NM_000349.2 NM_001007243.1

Unigene Cluster for STAR:

Steroidogenic acute regulatory protein

Hs.521535 [show with all ESTs]

Unigene Representative Sequence: NM_000349

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000276449(uc003xkv.1) ENST00000520114 ENST00000522753 ENST00000522050

ENST00000521236

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat STAR
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate STAR:
		hsa-miR-1179 hsa-miR-4301
		SwitchGear 3'UTR luciferase reporter plasmid: STAR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for STAR (see all 7) OriGene shRNA RFP: STAR OriGene siRNA: STAR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat STAR

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for STAR (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for STAR (see all 4) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: STAR (NM_000349)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for STAR
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat STAR

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat STAR
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STAR

Additional cDNA sequence:

AF035277.1 AK315122.1 AY532319.1 BC010550.1 CR456803.1 CR541850.1 S79669.1 U17280.1

24/28 DOTS entries (see all 28):

DT.100884134 DT.95277192 DT.217188 DT.92462007 DT.95277227 DT.95277223 DT.120637260 DT.120637321

DT.120637337 DT.120637191 DT.95277195 DT.95277186 DT.92461997 DT.95277213 DT.95277216 DT.95277220

DT.97857453 DT.120637221 DT.120637289 DT.120637336 DT.92462005 DT.95277188 DT.95277190 DT.95277202

24/357 AceView cDNA sequences (see all 357):

AA452609 AI971455 AV705375 AV711049 AV707111 AA329875 AW236551 AA349000

AA564860 AA340843 AA349178 AA424420 AV709194 AI333821 AV708514 AV707500

AA604770 AI200533 CR616953 AY532319 BC010550 CR591216 AI192614 BM554124

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for STAR (see all 7) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4a	·	4b	·	4c	^	5	^	6a	·	6b	^	7	^	8a	·	8b	^	9a	·	9b	^	10a	·	10b
SP1:			-						-																				-
SP2:			-						-														-
SP3:			-						-
SP4:			-				-		-		-
SP5:			-

ECgene alternative splicing isoforms for STAR

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

STAR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTTCCCTATT

About this image

STAR expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Ovary

Ovary

Ovary

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See STAR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for STAR

SOURCE GeneReport for Unigene cluster: Hs.521535

UniProtKB/Swiss-Prot: STAR_HUMAN, P49675

Tissue specificity: Expressed in gonads, adrenal cortex and kidney

SABiosciences Custom PCR Arrays for STAR

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for STAR Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat STAR

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for STAR

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for STAR gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	STAR¹	steroidogenic acute regulatory protein	74.79(n) 72.36(a)		395421 NM_204686.1 NP_990017.1
lizard (Anolis carolinensis)	Reptilia	STAR⁶	--	83(a)	1 ↔ 1	GL343406.1(675643-677069)
African clawed frog (Xenopus laevis)	Amphibia	star-A²	steroidogenic acute regulatory protein	73.19(n)		AF220437.1
zebrafish (Danio rerio)	Actinopterygii	star²	steroidogenic acute regulatory protein	73.04(n)		63999 AF220435.1
fruit fly (Drosophila melanogaster)	Insecta	Start1⁶	Start1	10(a)	1 → many	2R(20462079-20465199)
worm (Caenorhabditis elegans)	Secernentea	tag-340⁶	Temporarily Assigned Gene name family member (tag-...	10(a)	1 → many	III(4900037-4903143)

ENSEMBL Gene Tree for STAR (if available)
TreeFam Gene Tree for STAR (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for STAR gene

STARD3NL² STARD3²

2 SIMAP similar genes for STAR using alignment to 9 protein entries: STAR_HUMAN (see all proteins):

STARD3 DKFZp451B0517

STAR for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for STAR
PGOHUM00000256723 PGOHUM00000256724

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs104894085^1,2	C	pathogenic	38001877(-)	`TCAACC/TAGGTC`	2	Q *	stg¹		0	--	--	--	--
rs104894087^1,2	C	pathogenic	38001900(-)	`GGGGTA/GGCTGC`	2	* W	stg¹		0	--	--	--	--
rs104894090^1,2	C	pathogenic	38003569(-)	`GCGTGC/TGCTGT`	2	R C	mis¹		0	--	--	--	--
rs104894089^1,2	C	pathogenic	38003572(-)	`TGAGCA/GTGCGC`	2	M V	mis¹		0	--	--	--	--
rs77439914^1,2		--	37999930(+)	`TCATCA/GATGCT`	1	--	ds500¹		0	--	--	--	--
rs141671040^1,2		--	37999961(+)	`GCTTCA/GGGTGG`	1	--	ds500¹		0	--	--	--	--
rs11337578^1,2	C,	--	37999993(+)	`CCCTA-/CCCCCC`	1	--	ds500¹		2		NA CSA	4
rs63215562^1,2	C	--	37999998(+)	`CCCCCT/CTCCCA`	1	--	ds500¹		1		NA	2
rs181773691^1,2		--	38000132(+)	`ACCTCC/GGCCTC`	1	--	ds500¹		0	--	--	--	--
rs3990403^1,2	C,F,	--	38000267(+)	`TCTCCC/TGCCCT`	1	--	ut3¹ ese³		14		MN NA WA EA	742

HapMap Linkage Disequilibrium report for STAR (38000218 - 38008783 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for STAR: --
Human Gene Mutation Database (HGMD): STAR

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

STAR for disorders           About GeneDecksing

OMIM gene information: 600617
OMIM disorders: 201710
UniProtKB/Swiss-Prot: STAR_HUMAN, P49675

Defects in STAR are the cause of adrenal hyperplasia type 1 (AH1) [MIM:201710]. The most severe form of

adrenal hyperplasia. It is a condition characterized by onset of profound adrenocortical insufficiency shortly after

birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a

consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular

testosterone synthesis. Affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in

infancy if mineralocorticoid and glucocorticoid replacement are not instituted

20/46 diseases for STAR (see all 46): About MalaCards

lipoid adrenal hyperplasia adrenal hyperplasia cholesterol smith-lemli-opitz syndrome

dosage-sensitive sex reversal lipoid congenital adrenal hyperplasia sex reversal xy sex reversal

adrenal hypoplasia polycystic ovary syndrome congenital adrenal insufficiency leydig cell tumor

glucocorticoid deficiency familial glucocorticoid deficiency adrenocortical insufficiency addison's disease

pseudohermaphroditism bladder carcinoma hyperlipidemia hypogonadotropism

4 diseases from the University of Copenhagen DISEASES database for STAR:

Congenital adrenal insufficiency Ovarian disease Infertility Polycystic ovary syndrome

10/32 Novoseek disease relationships for STAR gene (see all 32) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lipoid congenital adrenal hyperplasia	98.1	59	11502818 (3), 9097960 (2), 9657690 (2), 11509019 (2) (see all 41)
leydig cell tumor	86.7	23	10098511 (2), 15814901 (2), 9348220 (2), 8961254 (1) (see all 17)
carcinoma adrenocortical	68.2	4	9918804 (1), 11595506 (1), 8824897 (1), 8708561 (1)
addisons disease	63.9	4	12727988 (1), 18202527 (1), 16901926 (1), 17400803 (1)
adrenal hypoplasia, congenital	54.8	1	15181096 (1)
adrenal tumor	51	6	9832418 (1), 10403575 (1), 11595506 (1), 11774288 (1)
granulosa cell tumor	50.2	1	15181096 (1)
adrenal hyperplasia	45.8	2	15289763 (1), 8708561 (1)
adrenal hyperplasia congenital	45.7	1	9888583 (1)
polycystic ovaries	43.5	2	11744913 (1), 19698287 (1)

Genatlas disease: STAR

congenital lipoid adrenal hyperplasia,with neonatal onset of severe adrenal insufficiency and male

pseudohermaphroditism

Human Genome Epidemiology (HuGE) Navigator: STAR (18 documents)

Export disorders for STAR gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for STAR gene, integrated from 9 sources (see all 450):
(articles sorted by number of sources associating them with STAR)

Utopia: connect your pdf to the dynamic
world of online information

Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13. (PubMed id 7761400)^{1, 2, 3, 9} Sugawara T....Stocco D.M. (1995)
The steroidogenic acute regulatory protein (StAR): a window into the complexities of intracellular cholesterol trafficking. (PubMed id 10548884)^{1, 2, 9} Strauss J.F. III... Sugawara T. (1999)
Structure of the human steroidogenic acute regulatory protein (StAR) gene: StAR stimulates mitochondrial cholesterol 27-hydroxylase activity. (PubMed id 7547998)^{1, 2, 9} Sugawara T....Strauss J.F. III (1995)
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. (PubMed id 9097960)^{1, 2, 9} Nakae J.... Fujieda K. (1997)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia. (PubMed id 10566637)^{1, 2} Katsumata N....Tanaka T. (1999)
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. (PubMed id 8948562)^{1, 2} Bose H.S.... Miller W.L. (1996)
The human steroidogenic acute regulatory (StAR) gene is expressed in the urogenital system and encodes a mitochondrial polypeptide. (PubMed id 7548191)^{1, 2} Gradi A....Pelletier J. (1995)
Localization of the steroidogenic acute regulatory protein in human tissues. (PubMed id 9398748)^{1, 9} Pollack S.E....Strauss J.F. (1997)
Expression of steroidogenic factor 1 (SF-1) and stero idogenic acute regulatory protein (StAR) in endometriosis is associated with en dometriosis severity. (PubMed id 19930843)^{1, 9} Tian Y....Kan Y. (2009)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6770	HGNC: 11359	AceView: STAR	Ensembl:ENSG00000147465	euGenes: HUgn6770
ECgene: STAR	H-InvDB: STAR

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for STAR	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for STAR	Genetics and Cytogenetics in Oncology and Haematology
Wikipedia	http://en.wikipedia.org/wiki/Steroidogenic_acute_regulatory_protein
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/STAR

Intellectual Property for STAR gene
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Patent Information for STAR gene:
Search GeneIP for patents involving STAR

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Adenoma Adrenocortical
BREAST CARCINOMA
Hyperplasia
Endometriosis
Carcinoma
Hyperlipidemia
Addisons Disease
Alzheimers Disease
Ovarian Failure Premature
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Leydig Cell Tumor
rare disease
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OVARIAN CARCINOMA
Inflammation
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STAR Gene

steroidogenic acute regulatory protein

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