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

Gene ID: 83930, updated on 23-Nov-2021

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
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Genomic context

See STARD3NL in Genome Data Viewer
Location:
7p14.1
Exon count:
13
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (38178245..38230671)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (38217847..38270270)

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 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Beyond single-marker analyses: mining whole genome scans for insights into treatment responses in severe sepsis.
GeneReviews: Not available
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
GeneReviews: Not available
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
GeneReviews: Not available

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC3251

General protein information

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

  1. NG_030015.1 RefSeqGene

    Range
    5040..57463
    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
    Related
    ENSP00000379334.1, ENST00000396013.5
    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
    Related
    ENSP00000394000.1, ENST00000434197.5
    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, ENST00000009041.12
    Conserved Domains (1) summary
    pfam10457
    Location:49212
    MENTAL; Cholesterol-capturing domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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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