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

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Summary

Official Symbol: STARD3provided by HGNC
Official Full Name: StAR-related lipid transfer (START) domain containing 3provided by HGNC
Primary source: HGNC:17579
See related: Ensembl:ENSG00000131748; HPRD:06132; MIM:607048; Vega:OTTHUMG00000133213
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]

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Genomic context

Location :: 17q11-q12

Sequence :: Chromosome: 17; NC_000017.10 (37793333..37820454)

See STARD3 in Epigenomics, MapViewer

Chromosome 17 - NC_000017.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

With saturating MLN64, steroidogenesis by placental mitochondria proceeds at near-maximal rate.
Title: Molten globule structure and steroidogenic activity of N-218 MLN64 in human placental mitochondria.
data indicate that StARD3 is the primary lutein-binding protein in macula lutea; recombinant StARD3 selectively binds lutein with high affinity
Title: Identification of StARD3 as a lutein-binding protein in the macula of the primate retina.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
a transport pathway for endosomal cholesterol to mitochondria that requires MLN64, but not NPC1
Title: MLN64 mediates egress of cholesterol from endosomes to mitochondria in the absence of functional Niemann-Pick Type C1 protein.
FAK contributed to the increased adhesion in MDA-MB-231DeltaMLN64 cells.
Title: Expression of MLN64 influences cellular matrix adhesion of breast cancer cells, the role for focal adhesion kinase.
Differential regulation of STARD1 and D3 reflects their distinct roles in macrophage cholesterol metabolism, and may inform anti-atherogenic strategies.
Title: Differential regulation of the STARD1 subfamily of START lipid trafficking proteins in human macrophages.
provide evidence for differential cholesterol binding of the two most closely related START domain proteins STARD1 and STARD3
Title: Cholesterol interaction with the related steroidogenic acute regulatory lipid-transfer (START) domains of StAR (STARD1) and MLN64 (STARD3).
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
local sterol enrichment by MLN64 in the late endosomal membranes facilitates their association with actin, thereby governing actin-dependent fusion and degradative activity of late endocytic organelles
Title: MLN64 is involved in actin-mediated dynamics of late endocytic organelles.
In this review, MLN64 defines discrete cholesterol-containing subdomains within the membrane of late endosomes where they may function in cholesterol transport.
Title: MLN64 and MENTHO, two mediators of endosomal cholesterol transport.

Submit: New GeneRIF Correction See all (15)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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Function	Evidence Code	Pubs
cholesterol binding	IDA Inferred from Direct Assay more info	PubMed
cholesterol transporter activity	IEA Inferred from Electronic Annotation more info
lipid binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
cholesterol metabolic process	TAS Traceable Author Statement more info	PubMed
lipid metabolic process	TAS Traceable Author Statement more info	PubMed
lipid transport	IEA Inferred from Electronic Annotation more info
mitochondrial transport	TAS Traceable Author Statement more info	PubMed
steroid biosynthetic process	IEA Inferred from Electronic Annotation more info
steroid metabolic process	TAS Traceable Author Statement more info	PubMed
transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
cytoplasm	TAS Traceable Author Statement more info	PubMed
endosome	IEA Inferred from Electronic Annotation more info
integral to membrane	IEA Inferred from Electronic Annotation more info
late endosome membrane	IEA Inferred from Electronic Annotation more info
membrane	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: stAR-related lipid transfer protein 3

Names: stAR-related lipid transfer protein 3; MLN 64; metastatic lymph node protein 64; START domain-containing protein 3; metastatic lymph node gene 64 protein; steroidogenic acute regulatory protein related

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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)

NM_001165937.1 → 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/TrEMBL

B4DUY1

UniProtKB/TrEMBL

F5H0G2

Related

ENSP00000439869, ENST00000544210

Conserved Domains (2) summary

pfam10457
Location:47 – 215
Blast Score: 368

MENTAL; Cholesterol-capturing domain

cd08906
Location:233 – 441
Blast Score: 995

START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins
NM_001165938.1 → NP_001159410.1 stAR-related lipid transfer protein 3 isoform 3

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/TrEMBL

A8MXA4

Related

ENSP00000377794, OTTHUMP00000164281, ENST00000394250, OTTHUMT00000256940

Conserved Domains (2) summary

pfam10457
Location:47 – 197
Blast Score: 631

MENTAL; Cholesterol-capturing domain

cd08906
Location:215 – 423
Blast Score: 992

START_STARD3-like; Cholesterol-binding START domain of mammalian STARD3 and related proteins
NM_006804.3 → NP_006795.3 stAR-related lipid transfer protein 3 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the predominant isoform (1).

Source sequence(s)

AC087491, BC008356, DC367486

Consensus CDS

CCDS11341.1

UniProtKB/Swiss-Prot

Q14849

Related

ENSP00000337446, OTTHUMP00000164279, ENST00000336308, OTTHUMT00000256933

Conserved Domains (2) summary

pfam10457
Location:47 – 215
Blast Score: 717

MENTAL; Cholesterol-capturing domain

cd08906
Location:233 – 441
Blast Score: 991

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

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000017.10 Reference GRCh37.p5 Primary Assembly

Range

37793333..37820454

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000149.1 Alternate HuRef

Range

33587056..33614385

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC087491.5 (67756..94799)	None
genomic	CH471152.1	EAW60584.1
		EAW60585.1
mRNA	AB209772.1	BAD93009.1
mRNA	AK123364.1	BAG53896.1
mRNA	AK225069.1	None
mRNA	AK300176.1	BAG61955.1
mRNA	AK300842.1	BAG62493.1
mRNA	AK301524.1	BAG63027.1
mRNA	AK303114.1	BAG64220.1
mRNA	AL831952.1	None
mRNA	BC008356.1	AAH08356.1
mRNA	BC008747.2	AAH08747.1
mRNA	BC019286.1	None
mRNA	BC025679.1	AAH25679.1
mRNA	BC047766.1	None
mRNA	BT006964.1	AAP35610.1
mRNA	D38255.1	BAA22525.1
mRNA	DC367486.1	None
mRNA	X80198.1	CAA56489.1
other-genetic	DQ890575.2	ABM92192.1
other-genetic	DQ893735.2	ABM84661.1
other-genetic	EU831622.1	ACE87222.1
other-genetic	EU831707.1	ACE86541.1