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] See more...

Aliases for STARD3NL Gene

Aliases for STARD3NL Gene

  • STARD3 N-Terminal Like 2 3 5
  • MLN64 N-Terminal Domain Homolog 3 4
  • STARD3 N-Terminal-Like Protein 3 4
  • MENTHO 3 4

External Ids for STARD3NL Gene

Previous GeneCards Identifiers for STARD3NL Gene

  • GC07P037865
  • GC07P037958
  • GC07P037991
  • GC07P038184

Summaries for STARD3NL Gene

Entrez Gene Summary for STARD3NL Gene

  • 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]

GeneCards Summary for STARD3NL Gene

STARD3NL (STARD3 N-Terminal Like) is a Protein Coding gene. Diseases associated with STARD3NL include Weaver Syndrome. Among its related pathways are Metabolism and Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF). An important paralog of this gene is STARD3.

UniProtKB/Swiss-Prot Summary for STARD3NL Gene

  • Tethering protein that creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB (PubMed:24105263).

Gene Wiki entry for STARD3NL Gene

Additional gene information for STARD3NL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STARD3NL Gene

Genomics for STARD3NL Gene

GeneHancer (GH) Regulatory Elements for STARD3NL Gene

Promoters and enhancers for STARD3NL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J038177 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 549.2 +1.0 1034 4.5 ZBTB40 EP300 SIN3A NRF1 TCF12 USF1 POLR2G SP1 PHF8 FOS STARD3NL TRGC2 piR-39341-352
GH07J038195 Enhancer 0.8 Ensembl ENCODE 60.6 +20.0 20009 6 TCF12 ZNF316 NFIC FOS POLR2A MAFK ZBTB48 HDAC2 MAFG GATA2 STARD3NL TRGC2 piR-39341-352
GH07J038211 Enhancer 0.6 Ensembl ENCODE 59.3 +34.3 34348 1.7 JUND TEAD4 ZNF664 SP1 STARD3NL TRGC2 SFRP4 TRGJP2 NONHSAG047369.2 piR-39341-352
GH07J038215 Enhancer 1.2 Ensembl ENCODE dbSUPER 25.4 +41.6 41602 9.2 CTCF REST MYC RAD21 CTBP1 TRIM22 SMC3 MXI1 FOXA2 TCF12 NONHSAG047369.2 STARD3NL TRGC2 SFRP4
GH07J038185 Enhancer 0.6 ENCODE 48.4 +8.2 8237 2.1 EP300 JUND FOS SPI1 FOSL1 EBF1 PRDM10 TBX21 KLF5 ATF7 STARD3NL TRGC1 piR-39341-352
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STARD3NL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STARD3NL

Top Transcription factor binding sites by QIAGEN in the STARD3NL gene promoter:
  • AML1a
  • Bach2
  • FOXI1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HFH-3
  • IRF-1
  • POU2F1
  • POU2F1a
  • RORalpha1

Genomic Locations for STARD3NL Gene

Genomic Locations for STARD3NL Gene
chr7:38,178,206-38,230,671
(GRCh38/hg38)
Size:
52,466 bases
Orientation:
Plus strand
chr7:38,217,824-38,270,272
(GRCh37/hg19)
Size:
52,449 bases
Orientation:
Plus strand

Genomic View for STARD3NL Gene

Genes around STARD3NL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STARD3NL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STARD3NL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STARD3NL Gene

Proteins for STARD3NL Gene

  • Protein details for STARD3NL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95772-STR3N_HUMAN
    Recommended name:
    STARD3 N-terminal-like protein
    Protein Accession:
    O95772
    Secondary Accessions:
    • A4D1X0

    Protein attributes for STARD3NL Gene

    Size:
    234 amino acids
    Molecular mass:
    26655 Da
    Quaternary structure:
    • Homodimer (PubMed:16709157). Interacts (via the MENTAL domain) with STARD3NL (PubMed:16709157). Interacts (via FFAT motif) with VAPA. Interacts (via FFAT motif) with VAPB (PubMed:24105263).

    Alternative splice isoforms for STARD3NL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STARD3NL Gene

Post-translational modifications for STARD3NL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for STARD3NL Gene

Domains & Families for STARD3NL Gene

Gene Families for STARD3NL Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for STARD3NL Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for STARD3NL Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ96453 (A4D1X0_HUMAN)
  • STARD3 N-terminal-like protein (MENTO_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95772

UniProtKB/Swiss-Prot:

STR3N_HUMAN :
  • The FFAT motif mediates interaction with VAPA and VAPB.
  • Belongs to the STARD3 family.
Domain:
  • The FFAT motif mediates interaction with VAPA and VAPB.
  • The MENTAL domain anchors the protein in endosome membranes and exposes the START domain in the cytosol (By similarity). It binds cholesterol and mediates homotypic as well as heterotypic interactions between STARD3 and STARD3NL (PubMed: