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STARD4 StAR related lipid transfer domain containing 4 [ Homo sapiens (human) ]

Gene ID: 134429, updated on 24-Nov-2020

Summary

Official Symbol
STARD4provided by HGNC
Official Full Name
StAR related lipid transfer domain containing 4provided by HGNC
Primary source
HGNC:HGNC:18058
See related
Ensembl:ENSG00000164211 MIM:607049
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 STARD4 (Soccio et al., 2002 [PubMed 12011452]).[supplied by OMIM, Mar 2008]
Expression
Ubiquitous expression in duodenum (RPKM 9.8), small intestine (RPKM 9.3) and 22 other tissues See more
Orthologs

Genomic context

See STARD4 in Genome Data Viewer
Location:
5q22.1
Exon count:
8
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (111491422..111512567, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (110831731..110848234, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene proline rich nuclear receptor coactivator 2 pseudogene Neighboring gene RPS3A pseudogene 21 Neighboring gene calcium/calmodulin dependent protein kinase IV Neighboring gene uncharacterized LOC105369177 Neighboring gene STARD4 antisense RNA 1 Neighboring gene high mobility group nucleosome binding domain 1 pseudogene 13

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
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol transfer activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol transfer activity IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cholesterol import IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol import IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol transport involved in cholesterol storage IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholesterol transport involved in cholesterol storage IDA
Inferred from Direct Assay
more info
PubMed 
intermembrane lipid transfer IEA
Inferred from Electronic Annotation
more info
 
intracellular cholesterol transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of bile acid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cholesterol esterification IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
stAR-related lipid transfer protein 4
Names
START domain containing 4, sterol regulated
START domain-containing protein 4
StAR-related lipid transfer (START) domain containing 4

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_001308056.2NP_001294985.1  stAR-related lipid transfer protein 4 isoform a

    See identical proteins and their annotated locations for NP_001294985.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode isoform a.
    Source sequence(s)
    AK026207, AK054566, AK125317, AL710253, BI091150, BU607573, DB475661
    Consensus CDS
    CCDS4104.1
    UniProtKB/Swiss-Prot
    Q96DR4
    Related
    ENSP00000427478.2, ENST00000505803.5
    Conserved Domains (1) summary
    cl14643
    Location:5205
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
  2. NM_001308057.2NP_001294986.1  stAR-related lipid transfer protein 4 isoform b

    See identical proteins and their annotated locations for NP_001294986.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains alternate 3' exon structure, resulting in an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a. Both variants 3 and 4 encode isoform b.
    Source sequence(s)
    AK308851, BC042956
    Consensus CDS
    CCDS78046.1
    UniProtKB/Swiss-Prot
    Q96DR4
    Related
    ENSP00000427639.1, ENST00000502322.5
    Conserved Domains (1) summary
    cl14643
    Location:5137
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
  3. NM_001308058.2NP_001294987.1  stAR-related lipid transfer protein 4 isoform b

    See identical proteins and their annotated locations for NP_001294987.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR and contains alternate 3' exon structure, resulting in an alternate 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (b) has a distinct C-terminus and is shorter than isoform a. Both variants 3 and 4 encode isoform b.
    Source sequence(s)
    AK308851, BC042956, DB475661, DT220890
    Consensus CDS
    CCDS78046.1
    UniProtKB/Swiss-Prot
    Q96DR4
    Conserved Domains (1) summary
    cl14643
    Location:5137
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
  4. NM_001308059.2NP_001294988.1  stAR-related lipid transfer protein 4 isoform c

    See identical proteins and their annotated locations for NP_001294988.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an additional exon, resulting in differences in the 5' UTR and translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 5 and 6 encode isoform c.
    Source sequence(s)
    AK026207, AK054566, AK125317, BI091150, BP234859, BU607573, DB475661
    UniProtKB/Swiss-Prot
    Q96DR4
    Conserved Domains (1) summary
    cl14643
    Location:1123
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
  5. NM_001308060.2NP_001294989.1  stAR-related lipid transfer protein 4 isoform d

    See identical proteins and their annotated locations for NP_001294989.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) lacks two internal exons, resulting in differences in the 5' UTR and translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (d) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AK026207, AK054566, AK125317, AK315863, BI091150, BU607573, DB475661
    UniProtKB/Swiss-Prot
    Q96DR4
    UniProtKB/TrEMBL
    B0AZS2
    Conserved Domains (1) summary
    cl14643
    Location:1107
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
  6. NM_001308061.2NP_001294990.1  stAR-related lipid transfer protein 4 isoform c

    See identical proteins and their annotated locations for NP_001294990.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) lacks an internal exon, resulting in differences in the 5' UTR and translation initiation at a downstream in-frame start codon, compared to variant 1. The encoded isoform (c) is shorter at the N-terminus, compared to isoform a. Both variants 5 and 6 encode isoform c.
    Source sequence(s)
    AK026207, AK054566, AK125317, BI091150, BP247836, BU607573, DB475661
    UniProtKB/Swiss-Prot
    Q96DR4
    Conserved Domains (1) summary
    cl14643
    Location:1123
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
  7. NM_139164.3NP_631903.1  stAR-related lipid transfer protein 4 isoform a

    See identical proteins and their annotated locations for NP_631903.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Both variants 1 and 2 encode isoform a.
    Source sequence(s)
    AK026207, AK054566, AK125317, BI091150, BU607573, DB475661
    Consensus CDS
    CCDS4104.1
    UniProtKB/Swiss-Prot
    Q96DR4
    Related
    ENSP00000296632.3, ENST00000296632.8
    Conserved Domains (1) summary
    cl14643
    Location:5205
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily

RNA

  1. NR_131752.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (8) lacks an alternate internal exon and contains alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AK308851, BC042956, DB475661
  2. NR_131753.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (9) contains alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    BC019632, BC042956, DB475661
    Related
    ENST00000509887.5
  3. NR_131754.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10) uses an alternate splice site in the 5' terminal exon and also in an internal exon, compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AK026207, AK054566, AK125317, BI091150, BU607573

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    111491422..111512567 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017009043.2XP_016864532.1  stAR-related lipid transfer protein 4 isoform X2

    UniProtKB/TrEMBL
    B0AZS2
    Conserved Domains (1) summary
    cl14643
    Location:1107
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
  2. XM_017009042.2XP_016864531.1  stAR-related lipid transfer protein 4 isoform X2

    UniProtKB/TrEMBL
    B0AZS2
    Conserved Domains (1) summary
    cl14643
    Location:1107
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
  3. XM_017009041.2XP_016864530.1  stAR-related lipid transfer protein 4 isoform X2

    UniProtKB/TrEMBL
    B0AZS2
    Conserved Domains (1) summary
    cl14643
    Location:1107
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
  4. XM_017009044.2XP_016864533.1  stAR-related lipid transfer protein 4 isoform X3

    Conserved Domains (1) summary
    cl14643
    Location:1123
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
  5. XM_024454364.1XP_024310132.1  stAR-related lipid transfer protein 4 isoform X1

    Conserved Domains (1) summary
    cl14643
    Location:5132
    SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily

RNA

  1. XR_001742000.2 RNA Sequence

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