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

Gene ID: 147323, updated on 1-Aug-2020

Summary

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
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

Genomic context

See STARD6 in Genome Data Viewer
Location:
18q21.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 18 NC_000018.10 (54324492..54357858, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (51851062..51880943, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene methyl-CpG binding domain protein 2 Neighboring gene small nucleolar RNA, H/ACA box 37 Neighboring gene DNA polymerase iota Neighboring gene chromosome 18 open reading frame 54 Neighboring gene small nuclear ribonucleoprotein polypeptide G pseudogene 2

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?

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

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)

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_001371101.1NP_001358030.1  stAR-related lipid transfer protein 6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC093462, AF480305, HY005546
  2. NM_001371102.1NP_001358031.1  stAR-related lipid transfer protein 6 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC093462, AF480305, HY005546
  3. NM_139171.2NP_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
    ENSP00000462349.1, ENST00000581310.5
    Conserved Domains (1) summary
    cd08904
    Location:1204
    START_STARD6-like; Lipid-binding START domain of mammalian STARD6 and related proteins

RNA

  1. NR_138549.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction and lacks an alternate exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC093462

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p13 Primary Assembly

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