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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).
Cancer-related genes Disease related genes Human disease related genes Plasma proteins
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
X
Cytoband
q24
Chromosome location (bp)
120505920 - 120604074
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Core component of multiple cullin-RING-based E3 ubiquitin-protein ligase complexes which mediate the ubiquitination and subsequent proteasomal degradation of target proteins 1,2,3,4,5,6,7,8,9. The functional specificity of the E3 ubiquitin-protein ligase complex depends on the variable substrate recognition subunit 10,11,12,13,14. CUL4B may act within the complex as a scaffold protein, contributing to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme 15,16,17,18. Plays a role as part of the E3 ubiquitin-protein ligase complex in polyubiquitination of CDT1, histone H2A, histone H3 and histone H4 in response to radiation-induced DNA damage 19,20,21. Targeted to UV damaged chromatin by DDB2 and may be important for DNA repair and DNA replication 22. A number of DCX complexes (containing either TRPC4AP or DCAF12 as substrate-recognition component) are part of the DesCEND (destruction via C-end degrons) pathway, which recognizes a C-degron located at the extreme C terminus of target proteins, leading to their ubiquitination and degradation 23. The DCX(AMBRA1) complex is a master regulator of the transition from G1 to S cell phase by mediating ubiquitination of phosphorylated cyclin-D (CCND1, CCND2 and CCND3) 24,25. The DCX(AMBRA1) complex also acts as a regulator of Cul5-RING (CRL5) E3 ubiquitin-protein ligase complexes by mediating ubiquitination and degradation of Elongin-C (ELOC) component of CRL5 complexes 26. Required for ubiquitination of cyclin E (CCNE1 or CCNE2), and consequently, normal G1 cell cycle progression 27,28. Regulates the mammalian target-of-rapamycin (mTOR) pathway involved in control of cell growth, size and metabolism 29. Specific CUL4B regulation of the mTORC1-mediated pathway is dependent upon 26S proteasome function and requires interaction between CUL4B and MLST8 30. With CUL4A, contributes to ribosome biogenesis 31....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle, DNA damage, DNA repair, Ubl conjugation pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene is a member of the cullin family. The encoded protein forms a complex that functions as an E3 ubiquitin ligase and catalyzes the polyubiquitination of specific protein substrates in the cell. The protein interacts with a ring finger protein, and is required for the proteolysis of several regulators of DNA replication including chromatin licensing and DNA replication factor 1 and cyclin E. Multiple transcript variants encoding different isoforms have been found for this gene. [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.
Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutated cancer genes Disease related genes Human disease related genes Other diseases Mental and behavioural disorders 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:0000082[G1/S transition of mitotic cell cycle] GO:0003684[damaged DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0010467[gene expression] GO:0010498[proteasomal protein catabolic process] GO:0016567[protein ubiquitination] GO:0030674[protein-macromolecule adaptor activity] GO:0031146[SCF-dependent proteasomal ubiquitin-dependent protein catabolic process] GO:0031175[neuron projection development] GO:0031461[cullin-RING ubiquitin ligase complex] GO:0031464[Cul4A-RING E3 ubiquitin ligase complex] GO:0031465[Cul4B-RING E3 ubiquitin ligase complex] GO:0031625[ubiquitin protein ligase binding] GO:0034644[cellular response to UV] GO:0035518[histone H2A monoubiquitination] GO:0042254[ribosome biogenesis] GO:0045732[positive regulation of protein catabolic process] GO:0048708[astrocyte differentiation] GO:0070062[extracellular exosome] GO:0070914[UV-damage excision repair] GO:0080008[Cul4-RING E3 ubiquitin ligase complex] GO:1900087[positive regulation of G1/S transition of mitotic cell cycle]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutated cancer genes Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000082[G1/S transition of mitotic cell cycle] GO:0003684[damaged DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0010498[proteasomal protein catabolic process] GO:0016567[protein ubiquitination] GO:0030674[protein-macromolecule adaptor activity] GO:0031146[SCF-dependent proteasomal ubiquitin-dependent protein catabolic process] GO:0031461[cullin-RING ubiquitin ligase complex] GO:0031464[Cul4A-RING E3 ubiquitin ligase complex] GO:0031465[Cul4B-RING E3 ubiquitin ligase complex] GO:0031625[ubiquitin protein ligase binding] GO:0034644[cellular response to UV] GO:0035518[histone H2A monoubiquitination] GO:0042254[ribosome biogenesis] GO:0070062[extracellular exosome] GO:0070914[UV-damage excision repair] GO:0080008[Cul4-RING E3 ubiquitin ligase complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
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GO:0006511[ubiquitin-dependent protein catabolic process] GO:0016567[protein ubiquitination] GO:0031461[cullin-RING ubiquitin ligase complex] GO:0031625[ubiquitin protein ligase binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006511[ubiquitin-dependent protein catabolic process] GO:0016567[protein ubiquitination] GO:0031461[cullin-RING ubiquitin ligase complex] GO:0031625[ubiquitin protein ligase binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
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GO:0006511[ubiquitin-dependent protein catabolic process] GO:0016567[protein ubiquitination] GO:0031461[cullin-RING ubiquitin ligase complex] GO:0031625[ubiquitin protein ligase binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
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GO:0006511[ubiquitin-dependent protein catabolic process] GO:0016567[protein ubiquitination] GO:0031461[cullin-RING ubiquitin ligase complex] GO:0031625[ubiquitin protein ligase binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutated cancer genes Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000082[G1/S transition of mitotic cell cycle] GO:0003684[damaged DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0010498[proteasomal protein catabolic process] GO:0016567[protein ubiquitination] GO:0030674[protein-macromolecule adaptor activity] GO:0031146[SCF-dependent proteasomal ubiquitin-dependent protein catabolic process] GO:0031461[cullin-RING ubiquitin ligase complex] GO:0031464[Cul4A-RING E3 ubiquitin ligase complex] GO:0031465[Cul4B-RING E3 ubiquitin ligase complex] GO:0031625[ubiquitin protein ligase binding] GO:0034644[cellular response to UV] GO:0035518[histone H2A monoubiquitination] GO:0042254[ribosome biogenesis] GO:0070062[extracellular exosome] GO:0070914[UV-damage excision repair] GO:0080008[Cul4-RING E3 ubiquitin ligase complex]
MEMSAT-SVM predicted membrane proteins SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
Show all
GO:0006511[ubiquitin-dependent protein catabolic process] GO:0016567[protein ubiquitination] GO:0031461[cullin-RING ubiquitin ligase complex] GO:0031625[ubiquitin protein ligase binding]
SCAMPI predicted membrane proteins Phobius predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Cancer-related genes Mutated cancer genes Human disease related genes Other diseases Mental and behavioural disorders Protein evidence (Ezkurdia et al 2014)
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GO:0006511[ubiquitin-dependent protein catabolic process] GO:0016567[protein ubiquitination] GO:0031461[cullin-RING ubiquitin ligase complex] GO:0031625[ubiquitin protein ligase binding]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutated cancer genes Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000082[G1/S transition of mitotic cell cycle] GO:0003684[damaged DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0010498[proteasomal protein catabolic process] GO:0016567[protein ubiquitination] GO:0030674[protein-macromolecule adaptor activity] GO:0031146[SCF-dependent proteasomal ubiquitin-dependent protein catabolic process] GO:0031461[cullin-RING ubiquitin ligase complex] GO:0031464[Cul4A-RING E3 ubiquitin ligase complex] GO:0031465[Cul4B-RING E3 ubiquitin ligase complex] GO:0031625[ubiquitin protein ligase binding] GO:0034644[cellular response to UV] GO:0035518[histone H2A monoubiquitination] GO:0042254[ribosome biogenesis] GO:0070062[extracellular exosome] GO:0070914[UV-damage excision repair] GO:0080008[Cul4-RING E3 ubiquitin ligase complex]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Mutated cancer genes Disease related genes Human disease related genes Other diseases Mental and behavioural disorders Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000082[G1/S transition of mitotic cell cycle] GO:0003684[damaged DNA binding] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006511[ubiquitin-dependent protein catabolic process] GO:0006974[cellular response to DNA damage stimulus] GO:0007049[cell cycle] GO:0010498[proteasomal protein catabolic process] GO:0016567[protein ubiquitination] GO:0030674[protein-macromolecule adaptor activity] GO:0031146[SCF-dependent proteasomal ubiquitin-dependent protein catabolic process] GO:0031461[cullin-RING ubiquitin ligase complex] GO:0031464[Cul4A-RING E3 ubiquitin ligase complex] GO:0031465[Cul4B-RING E3 ubiquitin ligase complex] GO:0031625[ubiquitin protein ligase binding] GO:0034644[cellular response to UV] GO:0035518[histone H2A monoubiquitination] GO:0042254[ribosome biogenesis] GO:0070062[extracellular exosome] GO:0070914[UV-damage excision repair] GO:0080008[Cul4-RING E3 ubiquitin ligase complex]
The Human Protein Atlas project is funded
