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).
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
17
Cytoband
p13.3
Chromosome location (bp)
2054154 - 2063241
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Transcriptional repressor 1,2. Recognizes and binds to the consensus sequence '5-[CG]NG[CG]GGGCA[CA]CC-3' 3. May act as a tumor suppressor 4. Involved in development of head, face, limbs and ventral body wall (By similarity). Involved in down-regulation of SIRT1 and thereby is involved in regulation of p53/TP53-dependent apoptotic DNA-damage responses 5. The specific target gene promoter association seems to be depend on corepressors, such as CTBP1 or CTBP2 and MTA1 6,7. In cooperation with MTA1 (indicative for an association with the NuRD complex) represses transcription from CCND1/cyclin-D1 and CDKN1C/p57Kip2 specifically in quiescent cells 8. Involved in regulation of the Wnt signaling pathway probably by association with TCF7L2 and preventing TCF7L2 and CTNNB1 association with promoters of TCF-responsive genes 9. Seems to repress transcription from E2F1 and ATOH1 which involves ARID1A, indicative for the participation of a distinct SWI/SNF-type chromatin-remodeling complex 10,11. Probably represses transcription of ACKR3, FGFBP1 and EFNA1 12,13,14....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.
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
This gene functions as a growth regulatory and tumor repressor gene. Hypermethylation or deletion of the region of this gene have been associated with tumors and the contiguous-gene syndrome, Miller-Dieker syndrome. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 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.
Q14526 [Direct mapping] Hypermethylated in cancer 1 protein
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-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:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016055[Wnt signaling pathway] GO:0030178[negative regulation of Wnt signaling pathway] GO:0042826[histone deacetylase binding] GO:0043517[positive regulation of DNA damage response, signal transduction by p53 class mediator] GO:0043565[sequence-specific DNA binding] GO:0046872[metal ion binding] GO:1990837[sequence-specific double-stranded DNA binding]
Q14526 [Direct mapping] Hypermethylated in cancer 1 protein
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Mapped to neXtProt neXtProt - Evidence at protein level
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-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:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016055[Wnt signaling pathway] GO:0030178[negative regulation of Wnt signaling pathway] GO:0042826[histone deacetylase binding] GO:0043517[positive regulation of DNA damage response, signal transduction by p53 class mediator] GO:0043565[sequence-specific DNA binding] GO:0046872[metal ion binding] GO:1990837[sequence-specific double-stranded DNA binding]
V9GYA4 [Direct mapping] Hypermethylated in cancer 1 protein
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage]
I3L388 [Direct mapping] Hypermethylated in cancer 1 protein
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage]
K7ENQ1 [Direct mapping] Hypermethylated in cancer 1 protein
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage]
Q14526 [Direct mapping] Hypermethylated in cancer 1 protein
Show all
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Zinc-coordinating DNA-binding domains Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0000978[RNA polymerase II cis-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:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0016055[Wnt signaling pathway] GO:0030178[negative regulation of Wnt signaling pathway] GO:0042826[histone deacetylase binding] GO:0043517[positive regulation of DNA damage response, signal transduction by p53 class mediator] GO:0043565[sequence-specific DNA binding] GO:0046872[metal ion binding] GO:1990837[sequence-specific double-stranded DNA binding]
The Human Protein Atlas project is funded
