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Entry version 161 (13 Feb 2019)
Sequence version 2 (29 May 2013)
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Protein

GATOR complex protein DEPDC5

Gene

DEPDC5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

As a component of the GATOR1 complex functions as an inhibitor of the amino acid-sensing branch of the TORC1 pathway. The GATOR1 complex strongly increases GTP hydrolysis by RRAGA and RRAGB within RRAGC-containing heterodimers, thereby deactivating RRAGs, releasing mTORC1 from lysosomal surface and inhibiting mTORC1 signaling. The GATOR1 complex is negatively regulated by GATOR2 the other GATOR subcomplex in this amino acid-sensing branch of the TORC1 pathway.3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • GTPase activator activity Source: UniProtKB-KW
  • protein-containing complex binding Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGTPase activation

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

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SIGNORi
O75140

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
GATOR complex protein DEPDC5Curated
Alternative name(s):
DEP domain-containing protein 5Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:DEPDC5Imported
Synonyms:KIAA0645Imported
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 22

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000100150.16

Human Gene Nomenclature Database

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HGNCi
HGNC:18423 DEPDC5

Online Mendelian Inheritance in Man (OMIM)

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MIMi
614191 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_O75140

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Lysosome, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Epilepsy, familial focal, with variable foci 1 (FFEVF1)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete.
See also OMIM:604364
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07236390V → I in FFEVF1; does not inhibit DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; inhibits slightly RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs768456731EnsemblClinVar.1
Natural variantiVAR_077128214H → D in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039276EnsemblClinVar.1
Natural variantiVAR_072364272V → L in FFEVF1; does not inhibit DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs187334123EnsemblClinVar.1
Natural variantiVAR_069263452A → V in FFEVF1; inhibits slightly DEPDC5 signaling; stimulates slightly kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs202226316EnsemblClinVar.1
Natural variantiVAR_069264485R → Q in FFEVF1; does not inhibit DEPDC5 signaling; stimulates slightly kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs886039278EnsemblClinVar.1
Natural variantiVAR_077129542Q → P in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039279EnsemblClinVar.1
Natural variantiVAR_072365864T → M in FFEVF1; inhibits slightly DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs564667614EnsemblClinVar.1
Natural variantiVAR_0771301065K → R in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757609394Ensembl.1
Natural variantiVAR_0692651073S → R in FFEVF1; inhibits slightly DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs754608531EnsemblClinVar.1
Natural variantiVAR_0771311081T → P in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142540948EnsemblClinVar.1
Natural variantiVAR_0692661104S → L in FFEVF1. 1 PublicationCorresponds to variant dbSNP:rs79027628EnsemblClinVar.1
Natural variantiVAR_0771321154S → F in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs578244490EnsemblClinVar.1
Natural variantiVAR_0723661162S → G in FFEVF1; does not inhibit DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 1 PublicationCorresponds to variant dbSNP:rs886039280EnsemblClinVar.1
Natural variantiVAR_0771331268R → Q in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039281EnsemblClinVar.1
Inactivating mutations and truncating deletions in the genes encoding GATOR1 proteins, including DEPDC5, are detected in glioblastoma and ovarian tumors and are associated with loss of heterozygosity events. Inactivation of GATOR1 proteins promotes constitutive localization of mTORC1 to the lysosomal membrane and blocks mTORC1 inactivation following amino acid withdrawal (PubMed:23723238).1 Publication

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi447K → R: No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-710, R-1065, R-1088 and R-1574. 1 Publication1
Mutagenesisi710K → R: No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-447, R-1065, R-1088 and R-1574. 1 Publication1
Mutagenesisi1065K → R: No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-447, R-710, R-1088 and R-1574. 1 Publication1
Mutagenesisi1088K → R: No effect on ubiquitination. Loss of interaction with KLHL22 and ubiquitination; when associated with R-447, R-710, R-1065 and R-1574. 1 Publication1
Mutagenesisi1188S → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1189T → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1195S → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1201S → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1203Y → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1207S → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1223T → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1241T → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1244S → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1250T → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1253Y → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1256Y → A: No effect on interaction with KLHL22. 1 Publication1
Mutagenesisi1574K → R: No effect on ubiquitination. Loss of ubiquitination; when associated with R-447, R-710, R-1065 and R-1088. 1 Publication1

Keywords - Diseasei

Disease mutation, Epilepsy

Organism-specific databases

DisGeNET

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DisGeNETi
9681

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
DEPDC5

MalaCards human disease database

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MalaCardsi
DEPDC5
MIMi604364 phenotype

Open Targets

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OpenTargetsi
ENSG00000100150

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
101046 Autosomal dominant epilepsy with auditory features
98784 Autosomal dominant nocturnal frontal lobe epilepsy
98820 Familial focal epilepsy with variable foci

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134864958

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
DEPDC5

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000798651 – 1603GATOR complex protein DEPDC5Add BLAST1603

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei505PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Ubiquitinated. Amino acid-induced 'Lys-48'-linked polyubiquitination of DEPDC5 by the BCR(KLHL22) ubiquitin ligase complex leads to DEPDC5 proteasomal degradation and inhibition of the GATOR1 complex (PubMed:29769719). Ubiquitination may occur at multiple lysines (PubMed:29769719).1 Publication

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
O75140

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O75140

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
O75140

PeptideAtlas

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PeptideAtlasi
O75140

PRoteomics IDEntifications database

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PRIDEi
O75140

ProteomicsDB human proteome resource

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ProteomicsDBi
49795
49796 [O75140-2]
49798 [O75140-4]
49799 [O75140-5]
49800 [O75140-6]
49802 [O75140-8]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O75140

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
O75140

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in developing and adult brain.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000100150 Expressed in 185 organ(s), highest expression level in layer of synovial tissue

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O75140 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O75140 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA054969
HPA055619

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Within the GATOR complex, component of the GATOR1 subcomplex, made of DEPDC5, NPRL2 and NPRL3. GATOR1 mediates the strong interaction of the GATOR complex with RRAGA/RRAGC and RRAGB/RRAGC heterodimers. Interacts (via DEP domain) with KLHL22; the interaction depends on amino acid availability (PubMed:29769719).3 Publications

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115034, 20 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
O75140

Database of interacting proteins

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DIPi
DIP-62050N

Protein interaction database and analysis system

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IntActi
O75140, 20 interactors

Molecular INTeraction database

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MINTi
O75140

STRING: functional protein association networks

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STRINGi
9606.ENSP00000371546

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CESelectron microscopy4.00D1-1603[»]
6CETelectron microscopy4.40D1-1603[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
O75140

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
O75140

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1187 – 1262DEPPROSITE-ProRule annotationAdd BLAST76

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The DEP domain mediates the interaction with KLHL22.1 Publication

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the IML1 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG3572 Eukaryota
ENOG410XQVG LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000016559

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000290718

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG051337

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
O75140

KEGG Orthology (KO)

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KOi
K20404

Identification of Orthologs from Complete Genome Data

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OMAi
IMFNKVV

Database of Orthologous Groups

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OrthoDBi
1094764at2759

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.10.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR000591 DEP_dom
IPR027244 IML1
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf

The PANTHER Classification System

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PANTHERi
PTHR13179 PTHR13179, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF00610 DEP, 1 hit
PF12257 IML1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00049 DEP, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF46785 SSF46785, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50186 DEP, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (8+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 8 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 8 described isoforms and 26 potential isoforms that are computationally mapped.Show allAlign All

Isoform 10 (identifier: O75140-10) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MRTTKVYKLV IHKKGFGGSD DELVVNPKVF PHIKLGDIVE IAHPNDEYSP
60 70 80 90 100
LLLQVKSLKE DLQKETISVD QTVTQVFRLR PYQDVYVNVV DPKDVTLDLV
110 120 130 140 150
ELTFKDQYIG RGDMWRLKKS LVSTCAYITQ KVEFAGIRAQ AGELWVKNEK
160 170 180 190 200
VMCGYISEDT RVVFRSTSAM VYIFIQMSCE MWDFDIYGDL YFEKAVNGFL
210 220 230 240 250
ADLFTKWKEK NCSHEVTVVL FSRTFYDAKS VDEFPEINRA SIRQDHKGRF
260 270 280 290 300
YEDFYKVVVQ NERREEWTSL LVTIKKLFIQ YPVLVRLEQA EGFPQGDNST
310 320 330 340 350
SAQGNYLEAI NLSFNVFDKH YINRNFDRTG QMSVVITPGV GVFEVDRLLM
360 370 380 390 400
ILTKQRMIDN GIGVDLVCMG EQPLHAVPLF KLHNRSAPRD SRLGDDYNIP
410 420 430 440 450
HWINHSFYTS KSQLFCNSFT PRIKLAGKKP ASEKAKNGRD TSLGSPKESE
460 470 480 490 500
NALPIQVDYD AYDAQVFRLP GPSRAQCLTT CRSVRERESH SRKSASSCDV
510 520 530 540 550
SSSPSLPSRT LPTEEVRSQA SDDSSLGKSA NILMIPHPHL HQYEVSSSLG
560 570 580 590 600
YTSTRDVLEN MMEPPQRDSS APGRFHVGSA ESMLHVRPGG YTPQRALINP
610 620 630 640 650
FAPSRMPMKL TSNRRRWMHT FPVGPSGEAI QIHHQTRQNM AELQGSGQRD
660 670 680 690 700
PTHSSAELLE LAYHEAAGRH SNSRQPGDGM SFLNFSGTEE LSVGLLSNSG
710 720 730 740 750
AGMNPRTQNK DSLEDSVSTS PDPILTLSAP PVVPGFCCTV GVDWKSLTTP
760 770 780 790 800
ACLPLTTDYF PDRQGLQNDY TEGCYDLLPE ADIDRRDEDG VQMTAQQVFE
810 820 830 840 850
EFICQRLMQG YQIIVQPKTQ KPNPAVPPPL SSSPLYSRGL VSRNRPEEED
860 870 880 890 900
QYWLSMGRTF HKVTLKDKMI TVTRYLPKYP YESAQIHYTY SLCPSHSDSE
910 920 930 940 950
FVSCWVEFSH ERLEEYKWNY LDQYICSAGS EDFSLIESLK FWRTRFLLLP
960 970 980 990 1000
ACVTATKRIT EGEAHCDIYG DRPRADEDEW QLLDGFVRFV EGLNRIRRRH
1010 1020 1030 1040 1050
RSDRMMRKGT AMKGLQMTGP ISTHSLESTA PPVGKKGTSA LSALLEMEAS
1060 1070 1080 1090 1100
QKCLGEQQAA VHGGKSSAQS AESSSVAMTP TYMDSPRKDG AFFMEFVRSP
1110 1120 1130 1140 1150
RTASSAFYPQ VSVDQTATPM LDGTSLGICT GQSMDRGNSQ TFGNSQNIGE
1160 1170 1180 1190 1200
QGYSSTNSSD SSSQQLVASS LTSSSTLTEI LEAMKHPSTG VQLLSEQKGL
1210 1220 1230 1240 1250
SPYCFISAEV VHWLVNHVEG IQTQAMAIDI MQKMLEEQLI THASGEAWRT
1260 1270 1280 1290 1300
FIYGFYFYKI VTDKEPDRVA MQQPATTWHT AGVDDFASFQ RKWFEVAFVA
1310 1320 1330 1340 1350
EELVHSEIPA FLLPWLPSRP ASYASRHSSF SRSFGGRSQA AALLAATVPE
1360 1370 1380 1390 1400
QRTVTLDVDV NNRTDRLEWC SCYYHGNFSL NAAFEIKLHW MAVTAAVLFE
1410 1420 1430 1440 1450
MVQGWHRKAT SCGFLLVPVL EGPFALPSYL YGDPLRAQLF IPLNISCLLK
1460 1470 1480 1490 1500
EGSEHLFDSF EPETYWDRMH LFQEAIAHRF GFVQDKYSAS AFNFPAENKP
1510 1520 1530 1540 1550
QYIHVTGTVF LQLPYSKRKF SGQQRRRRNS TSSTNQNMFC EERVGYNWAY
1560 1570 1580 1590 1600
NTMLTKTWRS SATGDEKFAD RLLKDFTDFC INRDNRLVTF WTSCLEKMHA

SAP
Length:1,603
Mass (Da):181,264
Last modified:May 29, 2013 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i19664228B566A080
GO
Isoform 2 (identifier: O75140-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     556-559: DVLE → EHLG
     560-1603: Missing.

Note: No experimental confirmation available.
Show »
Length:559
Mass (Da):63,747
Checksum:iDE93AA865A4BDB86
GO
Isoform 4 (identifier: O75140-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1089-1110: Missing.

Note: No experimental confirmation available.
Show »
Length:1,581
Mass (Da):178,770
Checksum:i370A819D424914D4
GO
Isoform 5 (identifier: O75140-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1460-1603: FEPETYWDRM...CLEKMHASAP → LGLYKINILP...QGMKSLLIGC

Note: No experimental confirmation available.
Show »
Length:1,552
Mass (Da):173,443
Checksum:i2EBE2C7172E51665
GO
Isoform 6 (identifier: O75140-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     624-701: Missing.
     1230-1338: IMQKMLEEQL...SFSRSFGGRS → VMQWPCSSPP...LEDGARRQHF
     1339-1603: Missing.

Note: No experimental confirmation available. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:1,229
Mass (Da):138,310
Checksum:i1B4A2F40504829B4
GO
Isoform 8 (identifier: O75140-8) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     624-701: Missing.
     1089-1110: Missing.

Note: No experimental confirmation available.
Show »
Length:1,503
Mass (Da):170,529
Checksum:i6E71C3A838C96D3F
GO
Isoform 9 (identifier: O75140-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     724-733: ILTLSAPPVV → M

Show »
Length:1,594
Mass (Da):180,404
Checksum:i2387234DC7184F09
GO
Isoform 1 (identifier: O75140-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     724-733: ILTLSAPPVV → M
     1089-1110: Missing.

Show »
Length:1,572
Mass (Da):177,910
Checksum:i9F4AF4EEB4846B1B
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 26 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y770H0Y770_HUMAN
GATOR complex protein DEPDC5
DEPDC5
1,575Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y6H3A0A2R8Y6H3_HUMAN
GATOR complex protein DEPDC5
DEPDC5
1,525Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y5K9A0A2R8Y5K9_HUMAN
GATOR complex protein DEPDC5
DEPDC5
1,484Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y7U0A0A2R8Y7U0_HUMAN
GATOR complex protein DEPDC5
DEPDC5
1,589Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y721A0A2R8Y721_HUMAN
GATOR complex protein DEPDC5
DEPDC5
1,496Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C1T0H7C1T0_HUMAN
GATOR complex protein DEPDC5
DEPDC5
659Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
C9JGS4C9JGS4_HUMAN
GATOR complex protein DEPDC5
DEPDC5
193Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H7C3I3H7C3I3_HUMAN
GATOR complex protein DEPDC5
DEPDC5
135Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
F8WAX3F8WAX3_HUMAN
GATOR complex protein DEPDC5
DEPDC5
37Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A2R8Y842A0A2R8Y842_HUMAN
GATOR complex protein DEPDC5
DEPDC5
1,207Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
There are more potential isoformsShow all

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence BAA31620 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated
The sequence CAG27890 differs from that shown. Aberrant splicing.Curated
The sequence CAH18159 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti1365D → G in CAH18159 (PubMed:17974005).Curated1
Sequence conflicti1430L → P in CAH18159 (PubMed:17974005).Curated1
Sequence conflicti1561S → G in CAH18159 (PubMed:17974005).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07236390V → I in FFEVF1; does not inhibit DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; inhibits slightly RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs768456731EnsemblClinVar.1
Natural variantiVAR_077128214H → D in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039276EnsemblClinVar.1
Natural variantiVAR_072364272V → L in FFEVF1; does not inhibit DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs187334123EnsemblClinVar.1
Natural variantiVAR_069263452A → V in FFEVF1; inhibits slightly DEPDC5 signaling; stimulates slightly kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs202226316EnsemblClinVar.1
Natural variantiVAR_069264485R → Q in FFEVF1; does not inhibit DEPDC5 signaling; stimulates slightly kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs886039278EnsemblClinVar.1
Natural variantiVAR_024338491S → T. Corresponds to variant dbSNP:rs8138516EnsemblClinVar.1
Natural variantiVAR_077129542Q → P in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039279EnsemblClinVar.1
Natural variantiVAR_053953641A → V. Corresponds to variant dbSNP:rs16989528EnsemblClinVar.1
Natural variantiVAR_053954712S → F. Corresponds to variant dbSNP:rs16989535EnsemblClinVar.1
Natural variantiVAR_072365864T → M in FFEVF1; inhibits slightly DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs564667614EnsemblClinVar.1
Natural variantiVAR_0771301065K → R in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757609394Ensembl.1
Natural variantiVAR_0692651073S → R in FFEVF1; inhibits slightly DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 2 PublicationsCorresponds to variant dbSNP:rs754608531EnsemblClinVar.1
Natural variantiVAR_0771311081T → P in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs142540948EnsemblClinVar.1
Natural variantiVAR_0692661104S → L in FFEVF1. 1 PublicationCorresponds to variant dbSNP:rs79027628EnsemblClinVar.1
Natural variantiVAR_0771321154S → F in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs578244490EnsemblClinVar.1
Natural variantiVAR_0723661162S → G in FFEVF1; does not inhibit DEPDC5 signaling; does not change kinase activity of mTORC1; does not change association with the GATOR complex; does not change RRAGA/RRAGC and RRAGB/RRAGC heterodimer formation. 1 PublicationCorresponds to variant dbSNP:rs886039280EnsemblClinVar.1
Natural variantiVAR_0771331268R → Q in FFEVF1; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs886039281EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_014933556 – 559DVLE → EHLG in isoform 2. 1 Publication4
Alternative sequenceiVSP_014934560 – 1603Missing in isoform 2. 1 PublicationAdd BLAST1044
Alternative sequenceiVSP_014936624 – 701Missing in isoform 6 and isoform 8. 2 PublicationsAdd BLAST78
Alternative sequenceiVSP_014937724 – 733ILTLSAPPVV → M in isoform 1 and isoform 9. 4 Publications10
Alternative sequenceiVSP_0149381089 – 1110Missing in isoform 1, isoform 4 and isoform 8. 4 PublicationsAdd BLAST22
Alternative sequenceiVSP_0149391230 – 1338IMQKM…FGGRS → VMQWPCSSPPPPGTQQEWTT SPASSASGLRWPLWQKSSCT LRFLPFSCPGCLTGQPPMQV GTAPLAEVLEDGARRQHF in isoform 6. 1 PublicationAdd BLAST109
Alternative sequenceiVSP_0149401339 – 1603Missing in isoform 6. 1 PublicationAdd BLAST265
Alternative sequenceiVSP_0149411460 – 1603FEPET…HASAP → LGLYKINILPLLLTSLLRTS LSISTLQEQCFCSCPTPSAS SQGSSGGGGTPPAPPTRTCS ARSGSATTGPTTPCSPKHGA PAPQGMKSLLIGC in isoform 5. CuratedAdd BLAST144

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AJ698950 mRNA Translation: CAG27889.1
AJ698951 mRNA Translation: CAG27890.1 Sequence problems.
AJ704764 mRNA Translation: CAG28924.1
AB014545 mRNA Translation: BAA31620.2 Different initiation.
AK294987 mRNA Translation: BAG58054.1
AC005004 Genomic DNA No translation available.
AL022331 Genomic DNA No translation available.
Z83856 Genomic DNA No translation available.
Z82190 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW59996.1
BC057797 mRNA Translation: AAH57797.1
BC136612 mRNA Translation: AAI36613.1
BC146766 mRNA Translation: AAI46767.1
BX640828 mRNA Translation: CAE45904.1
CR749304 mRNA Translation: CAH18159.1 Different initiation.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43006.1 [O75140-1]
CCDS43007.1 [O75140-2]
CCDS46692.1 [O75140-9]
CCDS56229.1 [O75140-8]
CCDS74849.1 [O75140-10]
CCDS87017.1 [O75140-4]

Protein sequence database of the Protein Information Resource

More...
PIRi
T00376

NCBI Reference Sequences

More...
RefSeqi
NP_001007189.1, NM_001007188.2 [O75140-2]
NP_001129501.1, NM_001136029.2 [O75140-9]
NP_001229825.1, NM_001242896.1 [O75140-10]
NP_001229826.1, NM_001242897.1 [O75140-8]
NP_055477.1, NM_014662.4 [O75140-1]
XP_005261919.1, XM_005261862.1
XP_011528859.1, XM_011530557.2 [O75140-9]
XP_011528860.1, XM_011530558.2
XP_011528861.1, XM_011530559.2 [O75140-1]
XP_011528865.1, XM_011530563.2 [O75140-8]
XP_016884598.1, XM_017029109.1
XP_016884599.1, XM_017029110.1
XP_016884600.1, XM_017029111.1

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.435022

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000382111; ENSP00000371545; ENSG00000100150 [O75140-5]
ENST00000382112; ENSP00000371546; ENSG00000100150 [O75140-10]
ENST00000400242; ENSP00000383101; ENSG00000100150 [O75140-2]
ENST00000400246; ENSP00000383105; ENSG00000100150 [O75140-10]
ENST00000400248; ENSP00000383107; ENSG00000100150 [O75140-1]
ENST00000400249; ENSP00000383108; ENSG00000100150 [O75140-4]
ENST00000535622; ENSP00000440210; ENSG00000100150 [O75140-8]
ENST00000642696; ENSP00000495917; ENSG00000100150 [O75140-1]
ENST00000644331; ENSP00000494406; ENSG00000100150 [O75140-4]
ENST00000645711; ENSP00000493489; ENSG00000100150 [O75140-9]
ENST00000646755; ENSP00000496532; ENSG00000100150 [O75140-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
9681

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:9681

UCSC genome browser

More...
UCSCi
uc003alr.3 human [O75140-10]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ698950 mRNA Translation: CAG27889.1
AJ698951 mRNA Translation: CAG27890.1 Sequence problems.
AJ704764 mRNA Translation: CAG28924.1
AB014545 mRNA Translation: BAA31620.2 Different initiation.
AK294987 mRNA Translation: BAG58054.1
AC005004 Genomic DNA No translation available.
AL022331 Genomic DNA No translation available.
Z83856 Genomic DNA No translation available.
Z82190 Genomic DNA No translation available.
CH471095 Genomic DNA Translation: EAW59996.1
BC057797 mRNA Translation: AAH57797.1
BC136612 mRNA Translation: AAI36613.1
BC146766 mRNA Translation: AAI46767.1
BX640828 mRNA Translation: CAE45904.1
CR749304 mRNA Translation: CAH18159.1 Different initiation.
CCDSiCCDS43006.1 [O75140-1]
CCDS43007.1 [O75140-2]
CCDS46692.1 [O75140-9]
CCDS56229.1 [O75140-8]
CCDS74849.1 [O75140-10]
CCDS87017.1 [O75140-4]
PIRiT00376
RefSeqiNP_001007189.1, NM_001007188.2 [O75140-2]
NP_001129501.1, NM_001136029.2 [O75140-9]
NP_001229825.1, NM_001242896.1 [O75140-10]
NP_001229826.1, NM_001242897.1 [O75140-8]
NP_055477.1, NM_014662.4 [O75140-1]
XP_005261919.1, XM_005261862.1
XP_011528859.1, XM_011530557.2 [O75140-9]
XP_011528860.1, XM_011530558.2
XP_011528861.1, XM_011530559.2 [O75140-1]
XP_011528865.1, XM_011530563.2 [O75140-8]
XP_016884598.1, XM_017029109.1
XP_016884599.1, XM_017029110.1
XP_016884600.1, XM_017029111.1
UniGeneiHs.435022

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6CESelectron microscopy4.00D1-1603[»]
6CETelectron microscopy4.40D1-1603[»]
ProteinModelPortaliO75140
SMRiO75140
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115034, 20 interactors
CORUMiO75140
DIPiDIP-62050N
IntActiO75140, 20 interactors
MINTiO75140
STRINGi9606.ENSP00000371546

PTM databases

iPTMnetiO75140
PhosphoSitePlusiO75140

Polymorphism and mutation databases

BioMutaiDEPDC5

Proteomic databases

EPDiO75140
jPOSTiO75140
PaxDbiO75140
PeptideAtlasiO75140
PRIDEiO75140
ProteomicsDBi49795
49796 [O75140-2]
49798 [O75140-4]
49799 [O75140-5]
49800 [O75140-6]
49802 [O75140-8]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382111; ENSP00000371545; ENSG00000100150 [O75140-5]
ENST00000382112; ENSP00000371546; ENSG00000100150 [O75140-10]
ENST00000400242; ENSP00000383101; ENSG00000100150 [O75140-2]
ENST00000400246; ENSP00000383105; ENSG00000100150 [O75140-10]
ENST00000400248; ENSP00000383107; ENSG00000100150 [O75140-1]
ENST00000400249; ENSP00000383108; ENSG00000100150 [O75140-4]
ENST00000535622; ENSP00000440210; ENSG00000100150 [O75140-8]
ENST00000642696; ENSP00000495917; ENSG00000100150 [O75140-1]
ENST00000644331; ENSP00000494406; ENSG00000100150 [O75140-4]
ENST00000645711; ENSP00000493489; ENSG00000100150 [O75140-9]
ENST00000646755; ENSP00000496532; ENSG00000100150 [O75140-2]
GeneIDi9681
KEGGihsa:9681
UCSCiuc003alr.3 human [O75140-10]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
9681
DisGeNETi9681
EuPathDBiHostDB:ENSG00000100150.16

GeneCards: human genes, protein and diseases

More...
GeneCardsi
DEPDC5
GeneReviewsiDEPDC5
HGNCiHGNC:18423 DEPDC5
HPAiHPA054969
HPA055619
MalaCardsiDEPDC5
MIMi604364 phenotype
614191 gene
neXtProtiNX_O75140
OpenTargetsiENSG00000100150
Orphaneti101046 Autosomal dominant epilepsy with auditory features
98784 Autosomal dominant nocturnal frontal lobe epilepsy
98820 Familial focal epilepsy with variable foci
PharmGKBiPA134864958

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiKOG3572 Eukaryota
ENOG410XQVG LUCA
GeneTreeiENSGT00390000016559
HOGENOMiHOG000290718
HOVERGENiHBG051337
InParanoidiO75140
KOiK20404
OMAiIMFNKVV
OrthoDBi1094764at2759

Enzyme and pathway databases

SIGNORiO75140

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
DEPDC5 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
DEPDC5

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
9681

Protein Ontology

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PROi
PR:O75140

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000100150 Expressed in 185 organ(s), highest expression level in layer of synovial tissue
ExpressionAtlasiO75140 baseline and differential
GenevisibleiO75140 HS

Family and domain databases

Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR000591 DEP_dom
IPR027244 IML1
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR13179 PTHR13179, 1 hit
PfamiView protein in Pfam
PF00610 DEP, 1 hit
PF12257 IML1, 1 hit
SMARTiView protein in SMART
SM00049 DEP, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS50186 DEP, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiDEPD5_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: O75140
Secondary accession number(s): A6H8V6
, A8MPX9, B4DH93, B9EGN9, Q5K3V5, Q5THY9, Q5THZ0, Q5THZ1, Q5THZ3, Q68DR1, Q6MZX3, Q6PEZ1, Q9UGV8, Q9UH13
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 3, 2002
Last sequence update: May 29, 2013
Last modified: February 13, 2019
This is version 161 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 22
    Human chromosome 22: entries, gene names and cross-references to MIM
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