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

    Gene ID: 134429, updated on 3-Dec-2024

    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; AllianceGenome:HGNC:18058
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STARD4 in Genome Data Viewer
    Location:
    5q22.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (111496033..111512535, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (112006333..112022835, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (110831731..110848233, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RPS3A pseudogene 21 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22890 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16229 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22891 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16230 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16231 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16232 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22894 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22897 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22896 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22895 Neighboring gene calcium/calmodulin dependent protein kinase IV Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:110644539-110645132 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:110783389-110783979 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:110838395-110838556 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22898 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16233 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22900 Neighboring gene uncharacterized LOC105369177 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22901 Neighboring gene STARD4 antisense RNA 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:110865742-110866941 Neighboring gene uncharacterized LOC124901042

    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

    Related articles in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
    EBI GWAS Catalog

    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 IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables cholesterol transfer activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    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)

    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.

    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
      Q86TN9, Q96DR4
      UniProtKB/TrEMBL
      A8K2P7
      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/TrEMBL
      B0AZS2, Q86T95
      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
      Q86TN9, Q96DR4
      UniProtKB/TrEMBL
      A8K2P7
      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: 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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      111496033..111512535 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009043.3XP_016864532.1  stAR-related lipid transfer protein 4 isoform X3

      UniProtKB/TrEMBL
      B0AZS2, Q86T95
      Conserved Domains (1) summary
      cl14643
      Location:1107
      SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
    2. XM_017009044.3XP_016864533.1  stAR-related lipid transfer protein 4 isoform X2

      Conserved Domains (1) summary
      cl14643
      Location:1123
      SRPBCC; START/RHO_alpha_C/PITP/Bet_v1/CoxG/CalC (SRPBCC) ligand-binding domain superfamily
    3. XM_047416728.1XP_047272684.1  stAR-related lipid transfer protein 4 isoform X3

      UniProtKB/TrEMBL
      B0AZS2, Q86T95
    4. XM_024454364.2XP_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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      112006333..112022835 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351637.1XP_054207612.1  stAR-related lipid transfer protein 4 isoform X3

      UniProtKB/TrEMBL
      B0AZS2, Q86T95
    2. XM_054351635.1XP_054207610.1  stAR-related lipid transfer protein 4 isoform X2

    3. XM_054351636.1XP_054207611.1  stAR-related lipid transfer protein 4 isoform X3

      UniProtKB/TrEMBL
      B0AZS2, Q86T95
    4. XM_054351634.1XP_054207609.1  stAR-related lipid transfer protein 4 isoform X1