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    STARD3 StAR related lipid transfer domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 10948, updated on 17-Jun-2024

    Summary

    Official Symbol
    STARD3provided by HGNC
    Official Full Name
    StAR related lipid transfer domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:17579
    See related
    Ensembl:ENSG00000131748 MIM:607048; AllianceGenome:HGNC:17579
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAB1; es64; MLN64
    Summary
    This gene encodes a member of a subfamily of lipid trafficking proteins that are characterized by a C-terminal steroidogenic acute regulatory domain and an N-terminal metastatic lymph node 64 domain. The encoded protein localizes to the membranes of late endosomes and may be involved in exporting cholesterol. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]
    Expression
    Ubiquitous expression in testis (RPKM 14.1), spleen (RPKM 13.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See STARD3 in Genome Data Viewer
    Location:
    17q12
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (39637144..39664201)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (40500714..40527766)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37793397..37820454)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903997 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12099 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 1B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37787615-37788534 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37788535-37789454 Neighboring gene uncharacterized LOC124903998 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37791542-37792165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8460 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12100 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37810255-37810816 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37814469-37815344 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:37822021-37822758 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:37822759-37823496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12101 Neighboring gene titin-cap Neighboring gene phenylethanolamine N-methyltransferase

    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

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ41370

    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 IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cholesterol metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in cholesterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cholesterol transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lipid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in mitochondrial transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in progesterone biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in steroid metabolic process TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in vesicle tethering to endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in vesicle tethering to endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    colocalizes_with endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    colocalizes_with endoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in endoplasmic reticulum-endosome membrane contact site IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum-endosome membrane contact site IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    is_active_in late endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in late endosome membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in lysosomal membrane HDA PubMed 
    located_in mitochondrion IEA
    Inferred from Electronic Annotation
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in organelle membrane contact site IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    stAR-related lipid transfer protein 3
    Names
    MLN 64
    START domain-containing protein 3
    StAR-related lipid transfer (START) domain containing 3
    metastatic lymph node gene 64 protein
    metastatic lymph node protein 64
    steroidogenic acute regulatory protein related

    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_001165937.2NP_001159409.1  stAR-related lipid transfer protein 3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the coding region, which result in a restricted frameshift, compared to variant 1. The encoded isoform (2) is the same length as isoform 1.
      Source sequence(s)
      AC087491, AK300842, BC019286, DC367486
      Consensus CDS
      CCDS54117.1
      UniProtKB/Swiss-Prot
      Q14849
      Related
      ENSP00000439869.2, ENST00000544210.6
      Conserved Domains (2) summary
      cd08906
      Location:233441
      START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins
      pfam10457
      Location:47212
      MENTAL; Cholesterol-capturing domain
    2. NM_001165938.2NP_001159410.1  stAR-related lipid transfer protein 3 isoform 3

      See identical proteins and their annotated locations for NP_001159410.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the coding region, compared to variant 1. The encoded isoform (3) is shorter, compared to isoform 1.
      Source sequence(s)
      AC087491, AK300176, BC019286
      Consensus CDS
      CCDS54118.1
      UniProtKB/Swiss-Prot
      Q14849
      Related
      ENSP00000377794.4, ENST00000394250.8
      Conserved Domains (2) summary
      cd08906
      Location:215423
      START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins
      pfam10457
      Location:47194
      MENTAL; Cholesterol-capturing domain
    3. NM_006804.4NP_006795.3  stAR-related lipid transfer protein 3 isoform 1

      See identical proteins and their annotated locations for NP_006795.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the predominant isoform (1).
      Source sequence(s)
      AC087491, BC008356
      Consensus CDS
      CCDS11341.1
      UniProtKB/Swiss-Prot
      A8MXA4, B4DUY1, F5H0G2, Q14849, Q53Y53, Q96HM9
      UniProtKB/TrEMBL
      J3QLM1
      Related
      ENSP00000337446.5, ENST00000336308.10
      Conserved Domains (2) summary
      cd08906
      Location:233441
      START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins
      pfam10457
      Location:47212
      MENTAL; Cholesterol-capturing domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      39637144..39664201
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047435162.1XP_047291118.1  stAR-related lipid transfer protein 3 isoform X1

      UniProtKB/TrEMBL
      J3QLM1
    2. XM_047435165.1XP_047291121.1  stAR-related lipid transfer protein 3 isoform X3

      UniProtKB/Swiss-Prot
      A8MXA4, B4DUY1, F5H0G2, Q14849, Q53Y53, Q96HM9
      UniProtKB/TrEMBL
      J3QLM1
    3. XM_047435159.1XP_047291115.1  stAR-related lipid transfer protein 3 isoform X1

      UniProtKB/TrEMBL
      J3QLM1
      Related
      ENSP00000463613.1, ENST00000580611.5
    4. XM_047435164.1XP_047291120.1  stAR-related lipid transfer protein 3 isoform X2

      UniProtKB/TrEMBL
      J3QLM1
    5. XM_047435166.1XP_047291122.1  stAR-related lipid transfer protein 3 isoform X4

    6. XM_047435168.1XP_047291124.1  stAR-related lipid transfer protein 3 isoform X5

      UniProtKB/TrEMBL
      J3QS10
    7. XM_047435170.1XP_047291126.1  stAR-related lipid transfer protein 3 isoform X7

      UniProtKB/TrEMBL
      J3QS10
      Related
      ENSP00000464472.1, ENST00000578577.5
    8. XM_047435171.1XP_047291127.1  stAR-related lipid transfer protein 3 isoform X8

      UniProtKB/TrEMBL
      J3QS10
    9. XM_047435169.1XP_047291125.1  stAR-related lipid transfer protein 3 isoform X6

    10. XM_047435163.1XP_047291119.1  stAR-related lipid transfer protein 3 isoform X1

      UniProtKB/TrEMBL
      J3QLM1
    11. XM_047435160.1XP_047291116.1  stAR-related lipid transfer protein 3 isoform X1

      UniProtKB/TrEMBL
      J3QLM1
    12. XM_017024041.3XP_016879530.1  stAR-related lipid transfer protein 3 isoform X3

      UniProtKB/Swiss-Prot
      A8MXA4, B4DUY1, F5H0G2, Q14849, Q53Y53, Q96HM9
      UniProtKB/TrEMBL
      J3QLM1
      Conserved Domains (2) summary
      cd08906
      Location:233441
      START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins
      pfam10457
      Location:47212
      MENTAL; Cholesterol-capturing domain
    13. XM_047435167.1XP_047291123.1  stAR-related lipid transfer protein 3 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      40500714..40527766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314759.1XP_054170734.1  stAR-related lipid transfer protein 3 isoform X1

      UniProtKB/TrEMBL
      J3QLM1
    2. XM_054314763.1XP_054170738.1  stAR-related lipid transfer protein 3 isoform X2

      UniProtKB/TrEMBL
      J3QLM1
    3. XM_054314766.1XP_054170741.1  stAR-related lipid transfer protein 3 isoform X4

    4. XM_054314768.1XP_054170743.1  stAR-related lipid transfer protein 3 isoform X5

      UniProtKB/TrEMBL
      B4DZV8
    5. XM_054314770.1XP_054170745.1  stAR-related lipid transfer protein 3 isoform X7

      UniProtKB/TrEMBL
      B4DZV8
    6. XM_054314771.1XP_054170746.1  stAR-related lipid transfer protein 3 isoform X8

      UniProtKB/TrEMBL
      B4DZV8
    7. XM_054314769.1XP_054170744.1  stAR-related lipid transfer protein 3 isoform X6

    8. XM_054314765.1XP_054170740.1  stAR-related lipid transfer protein 3 isoform X3

      UniProtKB/TrEMBL
      J3QLM1
    9. XM_054314761.1XP_054170736.1  stAR-related lipid transfer protein 3 isoform X1

      UniProtKB/TrEMBL
      J3QLM1
    10. XM_054314762.1XP_054170737.1  stAR-related lipid transfer protein 3 isoform X1

      UniProtKB/TrEMBL
      J3QLM1
    11. XM_054314764.1XP_054170739.1  stAR-related lipid transfer protein 3 isoform X3

      UniProtKB/TrEMBL
      J3QLM1
    12. XM_054314760.1XP_054170735.1  stAR-related lipid transfer protein 3 isoform X1

      UniProtKB/TrEMBL
      J3QLM1
    13. XM_054314767.1XP_054170742.1  stAR-related lipid transfer protein 3 isoform X4