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

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: mouse all
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Genomic context

Location:: 17q12

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (39637144..39664201)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (40500714..40527766)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (37793397..37820454)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Metastatic Lymph Node 64 (MLN64) Expression in Gastric Cancer: The Clinical and Molecular Implications in Drug Resistance.
Title: Metastatic Lymph Node 64 (MLN64) Expression in Gastric Cancer: The Clinical and Molecular Implications in Drug Resistance.
Methionine sulfoxide reductases and cholesterol transporter STARD3 constitute an efficient system for detoxification of cholesterol hydroperoxides.
Title: Methionine sulfoxide reductases and cholesterol transporter STARD3 constitute an efficient system for detoxification of cholesterol hydroperoxides.
The ultrastructural function of MLN64 in the late endosome-mitochondria membrane contact sites in placental cells.
Title: The ultrastructural function of MLN64 in the late endosome-mitochondria membrane contact sites in placental cells.
Annexin A6 and NPC1 regulate LDL-inducible cell migration and distribution of focal adhesions.
Title: Annexin A6 and NPC1 regulate LDL-inducible cell migration and distribution of focal adhesions.
Findings suggest that MLN64 overexpression induces an increase in mitochondrial cholesterol content and consequently a decrease in mitochondrial GSH content leading to mitochondrial dysfunction. In addition, MLN64 expression is increased in Niemann-Pick C1 deficient cells and plays a key role in cholesterol transport into the mitochondria.
Title: MLN64 induces mitochondrial dysfunction associated with increased mitochondrial cholesterol content.
Study present a rare case of a 46,XY patient with CHD associated with ambiguous genitalia consisting of a clitoris-like phallus and a bifid scrotum. Exome sequencing revealed novel homozygous mutations in the FGFR1 and STARD3 genes that may be associated with the phenotype.
Title: Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.
Structure of the lutein-binding domain of human StARD3 at 1.74 A resolution and model of a complex with lutein has been presented.
Title: Structure of the lutein-binding domain of human StARD3 at 1.74 Å resolution and model of a complex with lutein.
Thus, STARD3 is a cholesterol transporter scaffolding endoplasmic reticulum-endosome contacts and modulating cellular cholesterol repartition by delivering cholesterol to endosomes.
Title: STARD3 mediates endoplasmic reticulum-to-endosome cholesterol transport at membrane contact sites.
STARD3 or STARD3NL-mediated ER-endosome contacts, which affect endosome dynamics, are believed to be involved in cholesterol transport
Title: Touché! STARD3 and STARD3NL tether the ER to endosomes.
Elevated StARD3 expression may contribute to breast cancer aggressiveness by increasing membrane cholesterol and enhancing oncogenic signaling.
Title: Elevated levels of StAR-related lipid transfer protein 3 alter cholesterol balance and adhesiveness of breast cancer cells: potential mechanisms contributing to progression of HER2-positive breast cancers.

Submit: New GeneRIF Correction See all GeneRIFs (29)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH66410 (e-PCR)
- UniSTS:83733

SHGC-31632 (e-PCR)
- UniSTS:29983

RH91094 (e-PCR)
- UniSTS:88309

WI-19537 (e-PCR)
- UniSTS:81402

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 more info	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

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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)

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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)

NM_001165937.2 → NP_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:233 → 441

START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins

pfam10457
Location:47 → 212

MENTAL; Cholesterol-capturing domain
NM_001165938.2 → NP_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:215 → 423

START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins

pfam10457
Location:47 → 194

MENTAL; Cholesterol-capturing domain
NM_006804.4 → NP_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:233 → 441

START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins

pfam10457
Location:47 → 212

MENTAL; Cholesterol-capturing domain

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

NC_000017.11 Reference GRCh38.p14 Primary Assembly

Range

39637144..39664201

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047435162.1 → XP_047291118.1 stAR-related lipid transfer protein 3 isoform X1
XM_047435165.1 → XP_047291121.1 stAR-related lipid transfer protein 3 isoform X3

UniProtKB/Swiss-Prot

A8MXA4, B4DUY1, F5H0G2, Q14849, Q53Y53, Q96HM9
XM_047435159.1 → XP_047291115.1 stAR-related lipid transfer protein 3 isoform X1

Related

ENSP00000463613.1, ENST00000580611.5
XM_047435164.1 → XP_047291120.1 stAR-related lipid transfer protein 3 isoform X2
XM_047435166.1 → XP_047291122.1 stAR-related lipid transfer protein 3 isoform X4
XM_047435168.1 → XP_047291124.1 stAR-related lipid transfer protein 3 isoform X5
XM_047435170.1 → XP_047291126.1 stAR-related lipid transfer protein 3 isoform X7

Related

ENSP00000464472.1, ENST00000578577.5
XM_047435171.1 → XP_047291127.1 stAR-related lipid transfer protein 3 isoform X8
XM_047435169.1 → XP_047291125.1 stAR-related lipid transfer protein 3 isoform X6
XM_047435163.1 → XP_047291119.1 stAR-related lipid transfer protein 3 isoform X1
XM_047435160.1 → XP_047291116.1 stAR-related lipid transfer protein 3 isoform X1
XM_017024041.3 → XP_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:233 → 441

START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins

pfam10457
Location:47 → 212

MENTAL; Cholesterol-capturing domain
XM_047435167.1 → XP_047291123.1 stAR-related lipid transfer protein 3 isoform X4

Alternate T2T-CHM13v2.0

Genomic

NC_060941.1 Alternate T2T-CHM13v2.0

Range

40500714..40527766

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054314759.1 → XP_054170734.1 stAR-related lipid transfer protein 3 isoform X1
XM_054314763.1 → XP_054170738.1 stAR-related lipid transfer protein 3 isoform X2
XM_054314766.1 → XP_054170741.1 stAR-related lipid transfer protein 3 isoform X4
XM_054314768.1 → XP_054170743.1 stAR-related lipid transfer protein 3 isoform X5
XM_054314770.1 → XP_054170745.1 stAR-related lipid transfer protein 3 isoform X7
XM_054314771.1 → XP_054170746.1 stAR-related lipid transfer protein 3 isoform X8
XM_054314769.1 → XP_054170744.1 stAR-related lipid transfer protein 3 isoform X6
XM_054314765.1 → XP_054170740.1 stAR-related lipid transfer protein 3 isoform X3
XM_054314761.1 → XP_054170736.1 stAR-related lipid transfer protein 3 isoform X1
XM_054314762.1 → XP_054170737.1 stAR-related lipid transfer protein 3 isoform X1
XM_054314764.1 → XP_054170739.1 stAR-related lipid transfer protein 3 isoform X3
XM_054314760.1 → XP_054170735.1 stAR-related lipid transfer protein 3 isoform X1
XM_054314767.1 → XP_054170742.1 stAR-related lipid transfer protein 3 isoform X4