U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 6770, updated on 17-Jun-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STAR in Genome Data Viewer
    Location:
    8p11.23
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (38142700..38150952, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (38419706..38427956, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (38000218..38008470, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 54 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:37892967-37893468 Neighboring gene eukaryotic translation initiation factor 4E binding protein 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:37911667-37911880 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:37927359-37928086 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:37929540-37930265 Neighboring gene Sharpr-MPRA regulatory region 11218 Neighboring gene CRISPRi-validated cis-regulatory element chr8.1253 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:37960345-37960633 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19115 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19116 Neighboring gene ASH2 like, histone lysine methyltransferase complex subunit Neighboring gene RNA, U6 small nuclear 988, pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:37990733-37991476 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr8:37991477-37992222 Neighboring gene Sharpr-MPRA regulatory region 4493 Neighboring gene STAR 5' regulatory region Neighboring gene uncharacterized LOC105379382 Neighboring gene RNA, U6 small nuclear 323, pseudogene Neighboring gene LSM1 homolog, mRNA degradation associated

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 cellular lipid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    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
     

    General protein information

    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)

    NEW Try the new Transcript table

    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

    1. NG_011827.1 RefSeqGene

      Range
      5131..13383
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000349.3NP_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:70278
      START_STARD1-like; Cholesterol-binding START domain of mammalian STARD1 and related proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      38142700..38150952 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      38419706..38427956 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. 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.