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

Gene ID: 83930, updated on 19-Jun-2019

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
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

Genomic context

See STARD3NL in Genome Data Viewer
Location:
7p14.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (38178245..38230671)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (38217808..38270272)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene ependymin related 1 Neighboring gene uncharacterized LOC105375236 Neighboring gene T cell receptor gamma constant 2 Neighboring gene TCR gamma alternate reading frame protein Neighboring gene T cell receptor gamma locus Neighboring gene T cell receptor gamma joining 2

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

Related articles in PubMed

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

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

  • MGC3251

Gene Ontology Provided by GOA

Function Evidence Code Pubs
cholesterol binding IDA
Inferred from Direct Assay
more info
PubMed 
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
 
vesicle tethering to endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
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
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
late endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane HDA PubMed 
membrane HDA PubMed 
organelle membrane contact site IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
STARD3 N-terminal-like protein
Names
MLN64 N-terminal domain homolog

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.

Genomic

  1. NG_030015.1 RefSeqGene

    Range
    5001..57465
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC006033, AJ492267, BQ716734, DT218211
    Consensus CDS
    CCDS5455.1
    Conserved Domains (1) summary
    pfam10457
    Location:49212
    MENTAL; Cholesterol-capturing domain
  2. NM_001363340.2NP_001350269.1  STARD3 N-terminal-like protein isoform 1

    Status: REVIEWED

    Source sequence(s)
    AJ492267, BQ716734, DA258701, DT218211
    Consensus CDS
    CCDS5455.1
    Conserved Domains (1) summary
    pfam10457
    Location:49212
    MENTAL; Cholesterol-capturing domain
  3. NM_001363343.2NP_001350272.1  STARD3 N-terminal-like protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC006033, AJ492267, DT218211
    Consensus CDS
    CCDS87495.1
    Conserved Domains (1) summary
    pfam10457
    Location:49194
    MENTAL; Cholesterol-capturing domain
  4. NM_001363344.2NP_001350273.1  STARD3 N-terminal-like protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AJ492267, DA258701, DT218211
    Consensus CDS
    CCDS87495.1
    Conserved Domains (1) summary
    pfam10457
    Location:49194
    MENTAL; Cholesterol-capturing domain
  5. NM_001363345.2NP_001350274.1  STARD3 N-terminal-like protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AJ492267, DA131127
    Consensus CDS
    CCDS87495.1
    Conserved Domains (1) summary
    pfam10457
    Location:49194
    MENTAL; Cholesterol-capturing domain
  6. NM_001363346.2NP_001350275.1  STARD3 N-terminal-like protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC006033, AJ492267, DT218211
    Consensus CDS
    CCDS87495.1
    Conserved Domains (1) summary
    pfam10457
    Location:49194
    MENTAL; Cholesterol-capturing domain
  7. NM_001363347.2NP_001350276.1  STARD3 N-terminal-like protein isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC006033, AC093460
    Consensus CDS
    CCDS87495.1
    Conserved Domains (1) summary
    pfam10457
    Location:49194
    MENTAL; Cholesterol-capturing domain
  8. NM_032016.4NP_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
    O95772
    UniProtKB/TrEMBL
    A0A024RA89
    Related
    ENSP00000009041.7, ENST00000009041.11
    Conserved Domains (1) summary
    pfam10457
    Location:49212
    MENTAL; Cholesterol-capturing domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    38178245..38230671
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    See identical proteins and their annotated locations for XP_011513874.1

    UniProtKB/Swiss-Prot
    O95772
    UniProtKB/TrEMBL
    A0A024RA89
    Related
    ENSP00000402028.1, ENST00000429075.1
    Conserved Domains (1) summary
    pfam10457
    Location:49212
    MENTAL; Cholesterol-capturing domain
  2. XM_017012693.1XP_016868182.1  STARD3 N-terminal-like protein isoform X1

    UniProtKB/Swiss-Prot
    O95772
    UniProtKB/TrEMBL
    A0A024RA89
    Conserved Domains (1) summary
    pfam10457
    Location:49212
    MENTAL; Cholesterol-capturing domain
  3. XM_024446955.1XP_024302723.1  STARD3 N-terminal-like protein isoform X1

    Conserved Domains (1) summary
    pfam10457
    Location:49212
    MENTAL; Cholesterol-capturing domain
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