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).
Cancer-related genes 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
1
Cytoband
q23.3
Chromosome location (bp)
164555584 - 164899296
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 which binds the DNA sequence 5'- TGATTGAT-3' as part of a heterodimer with HOX proteins such as HOXA1, HOXA5, HOXB7 and HOXB8 1. Binds to the DNA sequence 5'- TGATTGAC-3' in complex with a nuclear factor which is not a class I HOX protein 2. Has also been shown to bind the DNA sequence 5'-ATCAATCAA-3' cooperatively with HOXA5, HOXB7, HOXB8, HOXC8 and HOXD4 3,4. Acts as a transcriptional activator of PF4 in complex with MEIS1 5. Also activates transcription of SOX3 in complex with MEIS1 by binding to the 5'- TGATTGAC-3' consensus sequence (By similarity). In natural killer cells, binds to the NFIL3 promoter and acts as a transcriptional activator of NFIL3, promoting natural killer cell development (By similarity). Plays a role in the cAMP-dependent regulation of CYP17A1 gene expression via its cAMP-regulatory sequence (CRS1) (By similarity). Probably in complex with MEIS2, involved in transcriptional regulation by KLF4 6. Acts as a transcriptional activator of NKX2-5 and a transcriptional repressor of CDKN2B (By similarity). Together with NKX2-5, required for spleen development through a mechanism that involves CDKN2B repression (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Differentiation, Sexual differentiation, Steroidogenesis, Transcription, Transcription regulation
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a nuclear protein that belongs to the PBX homeobox family of transcriptional factors. Studies in mice suggest that this gene may be involved in the regulation of osteogenesis and required for skeletal patterning and programming. A chromosomal translocation, t(1;19) involving this gene and TCF3/E2A gene, is associated with pre-B-cell acute lymphoblastic leukemia. The resulting fusion protein, in which the DNA binding domain of E2A is replaced by the DNA binding domain of this protein, transforms cells by constitutively activating transcription of genes regulated by the PBX protein family. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2017]...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 Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
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:0001222[transcription corepressor binding] GO:0001654[eye development] GO:0001779[natural killer cell differentiation] GO:0003677[DNA 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:0006694[steroid biosynthetic process] GO:0007420[brain development] GO:0007548[sex differentiation] GO:0009887[animal organ morphogenesis] GO:0030154[cell differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048568[embryonic organ development] GO:0048666[neuron development] GO:0090575[RNA polymerase II transcription regulator complex] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000086[G2/M transition of mitotic cell cycle] 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:0001222[transcription corepressor binding] GO:0001228[DNA-binding transcription activator activity, RNA polymerase II-specific] GO:0001654[eye development] GO:0001655[urogenital system development] GO:0001658[branching involved in ureteric bud morphogenesis] GO:0001779[natural killer cell differentiation] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0006694[steroid biosynthetic process] GO:0007420[brain development] GO:0007548[sex differentiation] GO:0008283[cell population proliferation] GO:0009887[animal organ morphogenesis] GO:0009952[anterior/posterior pattern specification] GO:0009954[proximal/distal pattern formation] GO:0010971[positive regulation of G2/M transition of mitotic cell cycle] GO:0030154[cell differentiation] GO:0030278[regulation of ossification] GO:0030325[adrenal gland development] GO:0030326[embryonic limb morphogenesis] GO:0035162[embryonic hemopoiesis] GO:0042127[regulation of cell population proliferation] GO:0043433[negative regulation of DNA-binding transcription factor activity] GO:0043565[sequence-specific DNA binding] GO:0045665[negative regulation of neuron differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048536[spleen development] GO:0048538[thymus development] GO:0048568[embryonic organ development] GO:0048666[neuron development] GO:0048706[embryonic skeletal system development] GO:0072089[stem cell proliferation] GO:0090575[RNA polymerase II transcription regulator complex] GO:0140297[DNA-binding transcription factor binding] GO:1990837[sequence-specific double-stranded DNA binding] GO:2000648[positive regulation of stem cell proliferation]
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Transcription factors Helix-turn-helix domains Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Disease related genes Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
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:0001222[transcription corepressor binding] GO:0001654[eye development] GO:0001779[natural killer cell differentiation] GO:0003677[DNA 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:0006694[steroid biosynthetic process] GO:0007420[brain development] GO:0007548[sex differentiation] GO:0009887[animal organ morphogenesis] GO:0030154[cell differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0048568[embryonic organ development] GO:0048666[neuron development] GO:0090575[RNA polymerase II transcription regulator complex] GO:1990837[sequence-specific double-stranded DNA binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0003677[DNA binding] GO:0003700[DNA-binding transcription factor activity] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II]
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes COSMIC somatic mutations in cancer genes COSMIC Somatic Mutations COSMIC Translocations Human disease related genes Cancers Cancers of haematopoietic and lymphoid tissues Congenital malformations Congenital malformations of the urinary system Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
