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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Human disease related genes
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
3
Cytoband
p25.3
Chromosome location (bp)
9866711 - 9880255
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Lipid transferase specifically expressed in white adipose tissue, which promotes unilocular lipid droplet formation by mediating lipid droplet fusion 1,2,3,4,5. Lipid droplet fusion promotes their enlargement, restricting lipolysis and favoring lipid storage 6,7,8,9. Localizes on the lipid droplet surface, at focal contact sites between lipid droplets, and mediates atypical lipid droplet fusion by undergoing liquid-liquid phase separation (LLPS) and promoting directional net neutral lipid transfer from the smaller to larger lipid droplets 10,11,12,13. The transfer direction may be driven by the internal pressure difference between the contacting lipid droplet pair 14,15,16,17. Its role in neutral lipid transfer and lipid droplet enlargement is activated by the interaction with PLIN1 18. May also act as a CEBPB coactivator in the white adipose tissue to control the expression of a subset of CEBPB downstream target genes, including SOCS1, SOCS3, TGFB1, TGFBR1, ID2 and XDH (By similarity). When overexpressed in preadipocytes, induces apoptosis or increases cell susceptibility to apoptosis induced by serum deprivation or TGFB treatment 19....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis, Lipid transport, Transcription, Transcription regulation, Transport
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Q96AQ7 [Direct mapping] Cell death activator CIDE-3
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level
A0A0A0MRY9 [Direct mapping] Cell death activator CIDE-3
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism
Q96AQ7 [Direct mapping] Cell death activator CIDE-3
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level
Q96AQ7 [Direct mapping] Cell death activator CIDE-3
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level
A0A0C4DG75 [Direct mapping] Cell death activator CIDE-3
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism
Q96AQ7 [Direct mapping] Cell death activator CIDE-3
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level
Q96AQ7 [Direct mapping] Cell death activator CIDE-3
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level
Q96AQ7 [Direct mapping] Cell death activator CIDE-3
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level
Q96AQ7 [Direct mapping] Cell death activator CIDE-3
Show all
SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Human disease related genes Congenital disorders of metabolism Other congenital disorders of metabolism Mapped to neXtProt neXtProt - Evidence at protein level
The Human Protein Atlas project is funded
