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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 Plasma proteins 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
q35.2
Chromosome location (bp)
174724582 - 174730896
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Acts as a transcriptional regulator in bone development. Represses the ALPL promoter activity and antagonizes the stimulatory effect of DLX5 on ALPL expression during osteoblast differentiation. Probable morphogenetic role. May play a role in limb-pattern formation. In osteoblasts, suppresses transcription driven by the osteocalcin FGF response element (OCFRE). Binds to the homeodomain-response element of the ALPL promoter....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, DNA-binding, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
This gene encodes a member of the muscle segment homeobox gene family. The encoded protein is a transcriptional repressor whose normal activity may establish a balance between survival and apoptosis of neural crest-derived cells required for proper craniofacial morphogenesis. The encoded protein may also have a role in promoting cell growth under certain conditions and may be an important target for the RAS signaling pathways. Mutations in this gene are associated with parietal foramina 1 and craniosynostosis type 2. [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 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.
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Transcription factors Helix-turn-helix domains Disease related genes Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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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:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001503[ossification] GO:0001649[osteoblast differentiation] GO:0002063[chondrocyte development] GO:0002076[osteoblast development] GO:0003148[outflow tract septum morphogenesis] GO:0003151[outflow tract morphogenesis] GO:0003161[cardiac conduction system development] GO:0003198[epithelial to mesenchymal transition involved in endocardial cushion formation] GO:0003416[endochondral bone growth] GO:0003677[DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005667[transcription regulator complex] GO:0005829[cytosol] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008285[negative regulation of cell population proliferation] GO:0009952[anterior/posterior pattern specification] GO:0016607[nuclear speck] GO:0023019[signal transduction involved in regulation of gene expression] GO:0030326[embryonic limb morphogenesis] GO:0030509[BMP signaling pathway] GO:0030513[positive regulation of BMP signaling pathway] GO:0032792[negative regulation of CREB transcription factor activity] GO:0035115[embryonic forelimb morphogenesis] GO:0035116[embryonic hindlimb morphogenesis] GO:0035313[wound healing, spreading of epidermal cells] GO:0035880[embryonic nail plate morphogenesis] GO:0042060[wound healing] GO:0042476[odontogenesis] GO:0042733[embryonic digit morphogenesis] GO:0042981[regulation of apoptotic process] GO:0043066[negative regulation of apoptotic process] GO:0043565[sequence-specific DNA binding] GO:0045599[negative regulation of fat cell differentiation] GO:0045617[negative regulation of keratinocyte differentiation] GO:0045669[positive regulation of osteoblast differentiation] GO:0045892[negative regulation of DNA-templated transcription] GO:0048598[embryonic morphogenesis] GO:0048863[stem cell differentiation] GO:0051216[cartilage development] GO:0051795[positive regulation of timing of catagen] GO:0060346[bone trabecula formation] GO:0060349[bone morphogenesis] GO:0060363[cranial suture morphogenesis] GO:0060364[frontal suture morphogenesis] GO:0060444[branching involved in mammary gland duct morphogenesis] GO:0061180[mammary gland epithelium development] GO:0061312[BMP signaling pathway involved in heart development] GO:0070166[enamel mineralization] GO:0071363[cellular response to growth factor stimulus] GO:0071392[cellular response to estradiol stimulus] GO:0090427[activation of meiosis] GO:0097152[mesenchymal cell apoptotic process] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000678[negative regulation of transcription regulatory region DNA binding] GO:2001055[positive regulation of mesenchymal cell apoptotic process]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Congenital malformations Congenital malformations of the musculoskeletal system Other congenital malformations Protein evidence (Ezkurdia et al 2014)
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