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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).
Human disease related genes Transcription factors
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
5
Cytoband
q33.2
Chromosome location (bp)
154474972 - 154478227
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcription factor that plays an essential role in both trophoblast giant cell differentiation and in cardiac morphogenesis (By similarity). Binds the DNA sequence 5'-NRTCTG-3' (non-canonical E-box) (By similarity). Acts as a transcriptional repressor of SOX15 (By similarity). In the adult, could be required for ongoing expression of cardiac-specific genes 1....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, Developmental protein, DNA-binding
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene product is one of two closely related family members, the HAND proteins, which are asymmetrically expressed in the developing ventricular chambers and play an essential role in cardiac morphogenesis. Working in a complementary fashion, they function in the formation of the right ventricle and aortic arch arteries, implicating them as mediators of congenital heart disease. In addition, it has been suggested that this transcription factor may be required for early trophoblast differentiation. [provided by RefSeq, Jul 2008]...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 ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
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 Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
O96004 [Direct mapping] Heart- and neural crest derivatives-expressed protein 1
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Basic domains Human disease related genes Congenital malformations Congenital malformations of the circulatory system Mapped to neXtProt neXtProt - Evidence at protein level
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region binding] GO:0000977[RNA polymerase II transcription regulatory region sequence-specific DNA binding] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001221[transcription coregulator binding] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001525[angiogenesis] GO:0001701[in utero embryonic development] GO:0001707[mesoderm formation] GO:0001824[blastocyst development] GO:0001829[trophectodermal cell differentiation] GO:0001947[heart looping] GO:0003144[embryonic heart tube formation] GO:0003218[cardiac left ventricle formation] GO:0003219[cardiac right ventricle formation] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007507[heart development] GO:0019899[enzyme binding] GO:0030154[cell differentiation] GO:0032502[developmental process] GO:0035050[embryonic heart tube development] GO:0042475[odontogenesis of dentin-containing tooth] GO:0042802[identical protein binding] GO:0042803[protein homodimerization activity] GO:0043425[bHLH transcription factor binding] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043565[sequence-specific DNA binding] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046983[protein dimerization activity] GO:0055010[ventricular cardiac muscle tissue morphogenesis] GO:0060411[cardiac septum morphogenesis] GO:0060485[mesenchyme development] GO:0060536[cartilage morphogenesis] GO:0060707[trophoblast giant cell differentiation] GO:0061371[determination of heart left/right asymmetry] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0090575[RNA polymerase II transcription regulator complex] GO:1903026[negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding]
The Human Protein Atlas project is funded
