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STARD6 StAR related lipid transfer domain containing 6 [ Homo sapiens (human) ]

Gene ID: 147323, updated on 5-Mar-2024

Summary

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Official Symbol
STARD6provided by HGNC
Official Full Name
StAR related lipid transfer domain containing 6provided by HGNC
Primary source
HGNC:HGNC:18066
See related
Ensembl:ENSG00000174448 MIM:607051; AllianceGenome:HGNC:18066
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
Cholesterol homeostasis is regulated, at least in part, by sterol regulatory element (SRE)-binding proteins (e.g., SREBP1; MIM 184756) and by liver X receptors (e.g., LXRA; MIM 602423). Upon sterol depletion, LXRs are inactive and SREBPs are cleaved, after which they bind promoter SREs and activate genes involved in cholesterol biosynthesis and uptake. Sterol transport is mediated by vesicles or by soluble protein carriers, such as steroidogenic acute regulatory protein (STAR; MIM 600617). STAR is homologous to a family of proteins containing a 200- to 210-amino acid STAR-related lipid transfer (START) domain, including STARD6 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]
Expression
Restricted expression toward testis (RPKM 7.1) See more
Orthologs
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Genomic context

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See STARD6 in Genome Data Viewer
Location:
18q21.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (54324492..54357858, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (54527570..54560938, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (51850862..51884228, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:51772851-51773736 Neighboring gene uncharacterized LOC124904306 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:51773737-51774623 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9471 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:51779086-51779588 Neighboring gene uncharacterized LOC124904307 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13343 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13344 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13345 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13346 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9472 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13347 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13348 Neighboring gene DNA polymerase iota Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:51835674-51836224 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:51884780-51885291 Neighboring gene chromosome 18 open reading frame 54 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:51912942-51913627 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13350 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. STARD6 on steroids: solution structure, multiple timescale backbone dynamics and ligand binding mechanism. Létourneau D, et al. Sci Rep, 2016 Jun 24. PMID 27340016, Free PMC Article
  2. Genetic association of STARD6 polymorphisms with Alzheimer's disease in a Korean population. Kim YJ, et al. J Neurol Sci, 2016 Jul 15. PMID 27288785
  3. The StarD4 subfamily of steroidogenic acute regulatory-related lipid transfer (START) domain proteins: new players in cholesterol metabolism. Calderon-Dominguez M, et al. Int J Biochem Cell Biol, 2014 Apr. PMID 24440759, Free PMC Article
  4. The cholesterol-regulated StarD4 gene encodes a StAR-related lipid transfer protein with two closely related homologues, StarD5 and StarD6. Soccio RE, et al. Proc Natl Acad Sci U S A, 2002 May 14. PMID 12011452, Free PMC Article
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. STARD6 binds specifically testosterone.
    Title: STARD6 on steroids: solution structure, multiple timescale backbone dynamics and ligand binding mechanism.
  2. Genetic association study results suggest that STARD6 is involved in the pathogenesis of Alzheimer's disease
    Title: Genetic association of STARD6 polymorphisms with Alzheimer's disease in a Korean population.
  3. Studies show the 3 steroidogenic acute regulatory-related lipid transfer (START) domain proteins StarD4, StarD5 and StarD6 have a similar lipid binding pocket specific for sterols (cholesterol in particular), but differing regulation and localization.
    Title: The StarD4 subfamily of steroidogenic acute regulatory-related lipid transfer (START) domain proteins: new players in cholesterol metabolism.
  4. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  5. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables lipid binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in lipid transport IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
stAR-related lipid transfer protein 6
Names
START domain containing 6
START domain-containing protein 6
StAR-related lipid transfer (START) domain containing 6

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.

mRNA and Protein(s)

  1. NM_001371101.1 → NP_001358030.1  stAR-related lipid transfer protein 6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC093462, AF480305, HY005546
    Conserved Domains (1) summary
    cl14643
    Location:1 → 145
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily

  2. NM_001371102.1 → NP_001358031.1  stAR-related lipid transfer protein 6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC093462, AF480305, HY005546
    Conserved Domains (1) summary
    cl14643
    Location:1 → 145
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily

  3. NM_001394379.1 → NP_001381308.1  stAR-related lipid transfer protein 6 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC093462
    Consensus CDS
    CCDS92463.1
    UniProtKB/TrEMBL
    A0A8I5QL07
    Related
    ENSP00000510350.1, ENST00000686109.1
    Conserved Domains (1) summary
    cd08904
    Location:1 → 215
    START_STARD6-like; Lipid-binding START domain of mammalian STARD6 and related proteins

  4. NM_139171.2 → NP_631910.1  stAR-related lipid transfer protein 6 isoform 1

    See identical proteins and their annotated locations for NP_631910.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer, protein-coding transcript.
    Source sequence(s)
    AC093462, AF480305, HY005546
    Consensus CDS
    CCDS11955.1
    UniProtKB/Swiss-Prot
    P59095
    Related
    ENSP00000310814.3, ENST00000307844.4
    Conserved Domains (1) summary
    cd08904
    Location:1 → 204
    START_STARD6-like; Lipid-binding START domain of mammalian STARD6 and related proteins

RNA

  1. NR_138549.2 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC093462
    Related
    ENST00000689888.1

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_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    54324492..54357858 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047437300.1 → XP_047293256.1  stAR-related lipid transfer protein 6 isoform X1

    UniProtKB/TrEMBL
    A0A8I5QL07

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    54527570..54560938 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054318203.1 → XP_054174178.1  stAR-related lipid transfer protein 6 isoform X1

    UniProtKB/TrEMBL
    A0A8I5QL07
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P59095.1 GenPept UniProtKB/Swiss-Prot:P59095

Gene LinkOut

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