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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
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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