We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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 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
10
Cytoband
q21.3
Chromosome location (bp)
62811996 - 62819167
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Sequence-specific DNA-binding transcription factor 1. Plays a role in hindbrain segmentation by regulating the expression of a subset of homeobox containing genes and in Schwann cell myelination by regulating the expression of genes involved in the formation and maintenance of myelin (By similarity). Binds to two EGR2-consensus sites EGR2A (5'-CTGTAGGAG-3') and EGR2B (5'-ATGTAGGTG-3') in the HOXB3 enhancer and promotes HOXB3 transcriptional activation (By similarity). Binds to specific DNA sites located in the promoter region of HOXA4, HOXB2 and ERBB2 (By similarity). Regulates hindbrain segmentation by controlling the expression of Hox genes, such as HOXA4, HOXB3 and HOXB2, and thereby specifying odd and even rhombomeres (By similarity). Promotes the expression of HOXB3 in the rhombomere r5 in the hindbrain (By similarity). Regulates myelination in the peripheral nervous system after birth, possibly by regulating the expression of myelin proteins, such as MPZ, and by promoting the differentiation of Schwann cells (By similarity). Involved in the development of the jaw openener musculature, probably by playing a role in its innervation through trigeminal motor neurons (By similarity). May play a role in adipogenesis, possibly by regulating the expression of CEBPB (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Activator, DNA-binding, Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 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 Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006611[protein export from nucleus] GO:0007420[brain development] GO:0007422[peripheral nervous system development] GO:0007611[learning or memory] GO:0007622[rhythmic behavior] GO:0008045[motor neuron axon guidance] GO:0010467[gene expression] GO:0014037[Schwann cell differentiation] GO:0014040[positive regulation of Schwann cell differentiation] GO:0016740[transferase activity] GO:0016925[protein sumoylation] GO:0021569[rhombomere 3 development] GO:0021612[facial nerve structural organization] GO:0021659[rhombomere 3 structural organization] GO:0021660[rhombomere 3 formation] GO:0021665[rhombomere 5 structural organization] GO:0021666[rhombomere 5 formation] GO:0030278[regulation of ossification] GO:0031625[ubiquitin protein ligase binding] GO:0031643[positive regulation of myelination] GO:0032868[response to insulin] GO:0035284[brain segmentation] GO:0035904[aorta development] GO:0035914[skeletal muscle cell differentiation] GO:0042552[myelination] GO:0043231[intracellular membrane-bounded organelle] GO:0043565[sequence-specific DNA binding] GO:0045444[fat cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0048168[regulation of neuronal synaptic plasticity] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061665[SUMO ligase activity] GO:0071310[cellular response to organic substance] GO:0071837[HMG box domain binding] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006611[protein export from nucleus] GO:0007420[brain development] GO:0007422[peripheral nervous system development] GO:0014037[Schwann cell differentiation] GO:0014040[positive regulation of Schwann cell differentiation] GO:0016740[transferase activity] GO:0016925[protein sumoylation] GO:0021612[facial nerve structural organization] GO:0021659[rhombomere 3 structural organization] GO:0021665[rhombomere 5 structural organization] GO:0031625[ubiquitin protein ligase binding] GO:0031643[positive regulation of myelination] GO:0035914[skeletal muscle cell differentiation] GO:0043231[intracellular membrane-bounded organelle] GO:0043565[sequence-specific DNA binding] GO:0045444[fat cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061665[SUMO ligase activity] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Disease related genes Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000785[chromatin] GO:0000976[transcription cis-regulatory region 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:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003682[chromatin binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006611[protein export from nucleus] GO:0007420[brain development] GO:0007422[peripheral nervous system development] GO:0014037[Schwann cell differentiation] GO:0014040[positive regulation of Schwann cell differentiation] GO:0016740[transferase activity] GO:0016925[protein sumoylation] GO:0021612[facial nerve structural organization] GO:0021659[rhombomere 3 structural organization] GO:0021665[rhombomere 5 structural organization] GO:0031625[ubiquitin protein ligase binding] GO:0031643[positive regulation of myelination] GO:0035914[skeletal muscle cell differentiation] GO:0043231[intracellular membrane-bounded organelle] GO:0043565[sequence-specific DNA binding] GO:0045444[fat cell differentiation] GO:0045893[positive regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046872[metal ion binding] GO:0061629[RNA polymerase II-specific DNA-binding transcription factor binding] GO:0061665[SUMO ligase activity] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Other nervous and sensory system diseases
The Human Protein Atlas project is funded
