STARD3NL STARD3 N-terminal like [Homo sapiens (human)] - Gene

Summary

Official Symbol: STARD3NLprovided by HGNC
Official Full Name: STARD3 N-terminal likeprovided by HGNC
Primary source: HGNC:HGNC:19169
See related: Ensembl:ENSG00000010270 MIM:611759; AllianceGenome:HGNC:19169
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: MENTHO
Summary: This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011]
Expression: Ubiquitous expression in prostate (RPKM 17.0), placenta (RPKM 15.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 7p14.1

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (38178245..38230669)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (38319177..38371581)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (38217847..38270270)

Chromosome 7 - NC_000007.14 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

STARD3NL inhibits the osteogenic differentiation by inactivating the Wnt/beta-catenin pathway via binding to Annexin A2 in osteoporosis.
Title: STARD3NL inhibits the osteogenic differentiation by inactivating the Wnt/β-catenin pathway via binding to Annexin A2 in osteoporosis.
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.
STARD3 or STARD3NL and VAP form a novel molecular tether between late endosomes and the endoplasmic reticulum.
Title: STARD3 or STARD3NL and VAP form a novel molecular tether between late endosomes and the ER.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
In this review, MENTHO 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.
The MENTAL (MLN64 amino-terminal shared with MENTHO) domain might serve to maintain cholesterol at the membrane of late endosomes prior to its shuttle to cytoplasmic acceptor(s).
Title: Functional characterization of the MENTAL domain.
overexpression does not rescue the Niemann-Pick type C lipid storage phenotype; overexpression alters severely the endocytic compartment by leading at steady state to the accumulation of enlarged endosomes
Title: MENTHO, a MLN64 homologue devoid of the START domain.

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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
Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. EBI GWAS Catalog EBI GWAS CatalogPubMed
Hundreds of variants clustered in genomic loci and biological pathways affect human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. 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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of STARD3 N-terminal like (STARD3NL) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D7S2497 (e-PCR), detects polymorphism
- UniSTS:9480

SHGC-172109 (e-PCR)
- UniSTS:184621

RH80173 (e-PCR)
- UniSTS:85304

STS-F09950 (e-PCR)
- UniSTS:25977

D7S2497 (e-PCR), detects polymorphism
- UniSTS:23492

HSC205_(7Gr378mb) (e-PCR)
- UniSTS:255230

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 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 transport	IBA Inferred from Biological aspect of Ancestor more info
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 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 membrane	HDA more info	PubMed
located_in organelle membrane contact site	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: STARD3 N-terminal-like protein

Names: MLN64 N-terminal domain homolog

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.

Genomic

NG_030015.2 RefSeqGene

Range

5002..57426

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001363339.2 → NP_001350268.1 STARD3 N-terminal-like protein isoform 1

Status: REVIEWED

Source sequence(s)

AC006033, AJ492267, BQ716734, DT218211

Consensus CDS

CCDS5455.1

UniProtKB/Swiss-Prot

A4D1X0, O95772

UniProtKB/TrEMBL

C9JPX5

Conserved Domains (1) summary

pfam10457
Location:49 → 212

MENTAL; Cholesterol-capturing domain
NM_001363340.2 → NP_001350269.1 STARD3 N-terminal-like protein isoform 1

Status: REVIEWED

Source sequence(s)

AJ492267, BQ716734, DA258701, DT218211

Consensus CDS

CCDS5455.1

UniProtKB/Swiss-Prot

A4D1X0, O95772

UniProtKB/TrEMBL

C9JPX5

Related

ENSP00000379334.1, ENST00000396013.5

Conserved Domains (1) summary

pfam10457
Location:49 → 212

MENTAL; Cholesterol-capturing domain
NM_001363343.2 → NP_001350272.1 STARD3 N-terminal-like protein isoform 2

Status: REVIEWED

Source sequence(s)

AC006033, AJ492267, DT218211

Consensus CDS

CCDS87495.1

UniProtKB/TrEMBL

C9JKL2, C9JPX5

Conserved Domains (1) summary

pfam10457
Location:49 → 194

MENTAL; Cholesterol-capturing domain
NM_001363344.2 → NP_001350273.1 STARD3 N-terminal-like protein isoform 2

Status: REVIEWED

Source sequence(s)

AJ492267, DA258701, DT218211

Consensus CDS

CCDS87495.1

UniProtKB/TrEMBL

C9JKL2, C9JPX5

Conserved Domains (1) summary

pfam10457
Location:49 → 194

MENTAL; Cholesterol-capturing domain
NM_001363345.2 → NP_001350274.1 STARD3 N-terminal-like protein isoform 2

Status: REVIEWED

Source sequence(s)

AJ492267, DA131127

Consensus CDS

CCDS87495.1

UniProtKB/TrEMBL

C9JKL2, C9JPX5

Related

ENSP00000394000.1, ENST00000434197.5

Conserved Domains (1) summary

pfam10457
Location:49 → 194

MENTAL; Cholesterol-capturing domain
NM_001363346.2 → NP_001350275.1 STARD3 N-terminal-like protein isoform 2

Status: REVIEWED

Source sequence(s)

AC006033, AJ492267, DT218211

Consensus CDS

CCDS87495.1

UniProtKB/TrEMBL

C9JKL2, C9JPX5

Conserved Domains (1) summary

pfam10457
Location:49 → 194

MENTAL; Cholesterol-capturing domain
NM_001363347.2 → NP_001350276.1 STARD3 N-terminal-like protein isoform 2

Status: REVIEWED

Source sequence(s)

AC006033, AC093460

Consensus CDS

CCDS87495.1

UniProtKB/TrEMBL

C9JKL2, C9JPX5

Conserved Domains (1) summary

pfam10457
Location:49 → 194

MENTAL; Cholesterol-capturing domain
NM_032016.4 → NP_114405.1 STARD3 N-terminal-like protein isoform 1

See identical proteins and their annotated locations for NP_114405.1

Status: REVIEWED

Source sequence(s)

AJ492267, DT218211

Consensus CDS

CCDS5455.1

UniProtKB/Swiss-Prot

A4D1X0, O95772

UniProtKB/TrEMBL

C9JPX5

Related

ENSP00000009041.7, ENST00000009041.12

Conserved Domains (1) summary

pfam10457
Location:49 → 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_000007.14 Reference GRCh38.p14 Primary Assembly

Range

38178245..38230669

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011515572.2 → XP_011513874.1 STARD3 N-terminal-like protein isoform X1

See identical proteins and their annotated locations for XP_011513874.1

UniProtKB/Swiss-Prot

A4D1X0, O95772

UniProtKB/TrEMBL

C9JPX5

Related

ENSP00000402028.1, ENST00000429075.1

Conserved Domains (1) summary

pfam10457
Location:49 → 212

MENTAL; Cholesterol-capturing domain
XM_047420921.1 → XP_047276877.1 STARD3 N-terminal-like protein isoform X2

UniProtKB/TrEMBL

C9JKL2, C9JPX5
XM_047420920.1 → XP_047276876.1 STARD3 N-terminal-like protein isoform X1

UniProtKB/Swiss-Prot

A4D1X0, O95772

UniProtKB/TrEMBL

C9JPX5
XM_017012693.2 → XP_016868182.1 STARD3 N-terminal-like protein isoform X1

UniProtKB/Swiss-Prot

A4D1X0, O95772

UniProtKB/TrEMBL

C9JPX5

Conserved Domains (1) summary

pfam10457
Location:49 → 212

MENTAL; Cholesterol-capturing domain
XM_024446955.2 → XP_024302723.1 STARD3 N-terminal-like protein isoform X1

UniProtKB/Swiss-Prot

A4D1X0, O95772

UniProtKB/TrEMBL

C9JPX5

Conserved Domains (1) summary

pfam10457
Location:49 → 212

MENTAL; Cholesterol-capturing domain

Alternate T2T-CHM13v2.0

Genomic

NC_060931.1 Alternate T2T-CHM13v2.0

Range

38319177..38371581

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054359174.1 → XP_054215149.1 STARD3 N-terminal-like protein isoform X1

UniProtKB/Swiss-Prot

A4D1X0, O95772

UniProtKB/TrEMBL

C9JPX5
XM_054359175.1 → XP_054215150.1 STARD3 N-terminal-like protein isoform X2

UniProtKB/TrEMBL

C9JKL2, C9JPX5
XM_054359171.1 → XP_054215146.1 STARD3 N-terminal-like protein isoform X1

UniProtKB/Swiss-Prot

A4D1X0, O95772

UniProtKB/TrEMBL

C9JPX5
XM_054359170.1 → XP_054215145.1 STARD3 N-terminal-like protein isoform X1

UniProtKB/Swiss-Prot

A4D1X0, O95772

UniProtKB/TrEMBL

C9JPX5
XM_054359172.1 → XP_054215147.1 STARD3 N-terminal-like protein isoform X1

UniProtKB/Swiss-Prot

A4D1X0, O95772

UniProtKB/TrEMBL

C9JPX5
XM_054359173.1 → XP_054215148.1 STARD3 N-terminal-like protein isoform X1

UniProtKB/Swiss-Prot

A4D1X0, O95772

UniProtKB/TrEMBL

C9JPX5