Format

Send to:

Choose Destination

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

Gene ID: 10948, updated on 7-Dec-2018

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
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

Genomic context

See STARD3 in Genome Data Viewer
Location:
17q12
Exon count:
16
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (39637080..39664201)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (37793333..37820454)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene VISTA enhancer hs627 Neighboring gene protein phosphatase 1 regulatory inhibitor subunit 1B 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Metabolism, organism-specific biosystem (from REACTOME)
    Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
  • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
    Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
  • Metabolism of steroid hormones, organism-specific biosystem (from REACTOME)
    Metabolism of steroid hormones, organism-specific biosystemSteroid hormones are synthesized primarily in the adrenal gland and gonads. They regulate energy metabolism and stress responses (glucocorticoids), salt balance (mineralocorticoids), and sexual devel...
  • Pregnenolone biosynthesis, organism-specific biosystem (from REACTOME)
    Pregnenolone biosynthesis, organism-specific biosystemThe first process in the synthesis of all steroid hormones is the synthesis of pregnenolone from cholesterol. In this process, cholesterol mobilized from cytosolic lipid droplets or from lysosomes is...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ41370

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
cholesterol transporter activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
C21-steroid hormone biosynthetic process TAS
Traceable Author Statement
more info
 
cholesterol metabolic process TAS
Traceable Author Statement
more info
PubMed 
cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
lipid metabolic process TAS
Traceable Author Statement
more info
PubMed 
mitochondrial transport TAS
Traceable Author Statement
more info
PubMed 
progesterone biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
steroid metabolic process TAS
Traceable Author Statement
more info
PubMed 
vesicle tethering to endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasm TAS
Traceable Author Statement
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
colocalizes_with endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane HDA PubMed 
mitochondrion IEA
Inferred from Electronic Annotation
more info
 
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)

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_001165937.1NP_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_001165938.1NP_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, DC367486
    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
    Q14849
    Related
    ENSP00000337446.5, ENST00000336308.9
    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: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    39637080..39664201
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024041.2XP_016879530.1  stAR-related lipid transfer protein 3 isoform X1

    UniProtKB/Swiss-Prot
    Q14849
    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. XM_024450549.1XP_024306317.1  stAR-related lipid transfer protein 3 isoform X2

    Conserved Domains (2) summary
    cd08906
    Location:99307
    START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins
    pfam10457
    Location:1278
    MENTAL; Cholesterol-capturing domain
Support Center