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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.
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
9
Cytoband
q34.2
Chromosome location (bp)
134135365 - 134159968
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Contributes to histone modification 1,2,3,4,5,6. May position the N-terminus of histone H3 for efficient trimethylation at 'Lys-4' 7. As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3 8. H3 'Lys-4' methylation represents a specific tag for epigenetic transcriptional activation 9. As part of the NSL complex it may be involved in acetylation of nucleosomal histone H4 on several lysine residues 10,11. May regulate osteoblasts differentiation (By similarity). In association with RBBP5 and ASH2L, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B 12,13....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Chromatin regulator
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 WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This protein contains 7 WD repeats. Alternatively spliced transcript variants encoding the same protein have been identified. [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.
P61964 [Direct mapping] WD repeat-containing protein 5
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000123[histone acetyltransferase complex] GO:0001501[skeletal system development] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0006094[gluconeogenesis] GO:0006325[chromatin organization] GO:0006355[regulation of DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0018022[peptidyl-lysine methylation] GO:0031063[regulation of histone deacetylation] GO:0031175[neuron projection development] GO:0035064[methylated histone binding] GO:0035097[histone methyltransferase complex] GO:0042393[histone binding] GO:0042800[histone methyltransferase activity (H3-K4 specific)] GO:0043966[histone H3 acetylation] GO:0043981[histone H4-K5 acetylation] GO:0043982[histone H4-K8 acetylation] GO:0043984[histone H4-K16 acetylation] GO:0044154[histone H3-K14 acetylation] GO:0044545[NSL complex] GO:0044665[MLL1/2 complex] GO:0044666[MLL3/4 complex] GO:0045722[positive regulation of gluconeogenesis] GO:0045815[transcriptional initiation-coupled chromatin remodeling] GO:0045893[positive regulation of DNA-templated transcription] GO:0045995[regulation of embryonic development] GO:0048188[Set1C/COMPASS complex] GO:0051302[regulation of cell division] GO:0051568[histone H3-K4 methylation] GO:0051571[positive regulation of histone H3-K4 methylation] GO:0051572[negative regulation of histone H3-K4 methylation] GO:0051726[regulation of cell cycle] GO:0071339[MLL1 complex] GO:0072686[mitotic spindle] GO:0090043[regulation of tubulin deacetylation] GO:0140672[ATAC complex] GO:1900095[regulation of dosage compensation by inactivation of X chromosome]
The Human Protein Atlas project is funded
