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STARD5 StAR related lipid transfer domain containing 5 [ Homo sapiens (human) ]

Gene ID: 80765, updated on 27-Nov-2024

Summary

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Official Symbol
STARD5provided by HGNC
Official Full Name
StAR related lipid transfer domain containing 5provided by HGNC
Primary source
HGNC:HGNC:18065
See related
Ensembl:ENSG00000172345 MIM:607050; AllianceGenome:HGNC:18065
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
Proteins containing a steroidogenic acute regulatory-related lipid transfer (START) domain are often involved in the trafficking of lipids and cholesterol between diverse intracellular membranes. This gene is a member of the StarD subfamily that encodes START-related lipid transfer proteins. The protein encoded by this gene is a cholesterol transporter and is also able to bind and transport other sterol-derived molecules related to the cholesterol/bile acid biosynthetic pathways such as 25-hydroxycholesterol. Its expression is upregulated during endoplasmic reticulum (ER) stress. The protein is thought to act as a cytosolic sterol transporter that moves cholesterol between intracellular membranes such as from the cytoplasm to the ER and from the ER to the Golgi apparatus. Alternative splicing of this gene produces multiple transcript variants. [provided by RefSeq, Jan 2016]
Expression
Ubiquitous expression in skin (RPKM 22.1), spleen (RPKM 14.8) and 23 other tissues See more
Orthologs
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Genomic context

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See STARD5 in Genome Data Viewer
Location:
15q25.1
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (81309053..81324141, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (79173123..79188213, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (81601394..81616482, complement)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903540 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9948 Neighboring gene cilia and flagella associated protein 161 Neighboring gene acidic nuclear phosphoprotein 32 family member B pseudogene 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:81481874-81483073 Neighboring gene interleukin 16 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9949 Neighboring gene Sharpr-MPRA regulatory regions 3481 and 15421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9951 Neighboring gene NANOG hESC enhancer GRCh37_chr15:81585795-81586313 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81588972-81589538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81589539-81590103 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9954 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9955 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9956 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:81595578-81596777 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:81600895-81601072 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:81605226-81606425 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6742 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6743 Neighboring gene TMC3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81648807-81649306 Neighboring gene transmembrane channel like 3 Neighboring gene NANOG hESC enhancer GRCh37_chr15:81841057-81841558 Neighboring gene uncharacterized LOC102723985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81943819-81944319 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:81944380-81944880

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. Genetically regulated expression underlies cellular sensitivity to chemotherapy in diverse populations. Mulford AJ, et al. Hum Mol Genet, 2021 Apr 26. PMID 33575800, Free PMC Article
  2. Thermodynamic and solution state NMR characterization of the binding of secondary and conjugated bile acids to STARD5. Létourneau D, et al. Biochim Biophys Acta, 2013 Nov. PMID 23872533
  3. START domain proteins and the intracellular trafficking of cholesterol in steroidogenic cells. Strauss JF 3rd, et al. Mol Cell Endocrinol, 2003 Apr 28. PMID 12770731
  4. Localization of StarD5 cholesterol binding protein. Rodriguez-Agudo D, et al. J Lipid Res, 2006 Jun. PMID 16534142
  5. Human StarD5, a cytosolic StAR-related lipid binding protein. Rodriguez-Agudo D, et al. J Lipid Res, 2005 Aug. PMID 15897605

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genetically regulated expression underlies cellular sensitivity to chemotherapy in diverse populations.
    Title: Genetically regulated expression underlies cellular sensitivity to chemotherapy in diverse populations.
  2. 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.
  3. 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.
  4. Observational study of gene-disease association. (HuGE Navigator)
    Title: New genetic associations detected in a host response study to hepatitis B vaccine.
  5. Data support STARD5 functioning in kidney, specifically within proximal tubule cells, and suggest a role in ER-associated cholesterol transport.
    Title: Steroidogenic acute regulatory-related lipid transfer domain protein 5 localization and regulation in renal tubules.
  6. The presence of StarD5 different human liver cells that are related to inflammatory processes provides new clues to its role of in free sterol transport in the cells and in lipid-mediated atherogenesis.
    Title: Localization of StarD5 cholesterol binding protein.
  7. demonstrated StarD5 protein in liver cytosolic fractions only, suggesting StarD5 as a directional cytosolic sterol carrier
    Title: Human StarD5, a cytosolic StAR-related lipid binding protein.
  8. StarD4 is regulated by sterols via SREBP-2, and StarD5 is activated by ER stress cholesterol metabolism; they serve different functions
    Title: Differential gene regulation of StarD4 and StarD5 cholesterol transfer proteins. Activation of StarD4 by sterol regulatory element-binding protein-2 and StarD5 by endoplasmic reticulum stress.
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)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC10327

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 IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cholesterol transfer activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in cholesterol import IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cholesterol import IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
stAR-related lipid transfer protein 5
Names
START domain containing 5
START domain-containing protein 5
StAR-related lipid transfer (START) domain containing 5

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_181900.3 → NP_871629.1  stAR-related lipid transfer protein 5

    See identical proteins and their annotated locations for NP_871629.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript.
    Source sequence(s)
    AC103858, AK026352, AK097024, AL137657, BC004365
    Consensus CDS
    CCDS10318.1
    UniProtKB/Swiss-Prot
    P59094, Q9NSY2
    Related
    ENSP00000304032.6, ENST00000302824.7
    Conserved Domains (1) summary
    cd08903
    Location:6 → 211
    START_STARD5-like; Lipid-binding START domain of mammalian STARD5 and related proteins

RNA

  1. NR_135013.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC103858, AK026352, AK097024

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

  1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    81309053..81324141 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    79173123..79188213 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_030574.2: Suppressed sequence

    Description
    NM_030574.2: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NSY2.2 GenPept UniProtKB/Swiss-Prot:Q9NSY2

Gene LinkOut

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