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Entry version 139 (08 May 2019)
Sequence version 4 (18 May 2010)
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Protein

Run domain Beclin-1-interacting and cysteine-rich domain-containing protein

Gene

RUBCN

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

Inhibits PIK3C3 activity; under basal conditions negatively regulates PI3K complex II (PI3KC3-C2) function in autophagy. Negatively regulates endosome maturation and degradative endocytic trafficking and impairs autophagosome maturation process. Can sequester UVRAG from association with a class C Vps complex (possibly the HOPS complex) and negatively regulates Rab7 activation (PubMed:20974968, PubMed:21062745).2 Publications
Involved in regulation of pathogen-specific host defense of activated macrophages. Following bacterial infection promotes NADH oxidase activity by association with CYBA thereby affecting TLR2 signaling and probably other TLR-NOX pathways. Stabilizes the CYBA:CYBB NADPH oxidase heterodimer, increases its association with TLR2 and its phagosome trafficking to induce antimicrobial burst of ROS and production of inflammatory cytokines (PubMed:22423966). Following fungal or viral infection (implicating CLEC7A (dectin-1)-mediated myeloid cell activation or DDX58/RIG-I-dependent sensing of RNA viruses) negatively regulates pro-inflammatory cytokine production by association with CARD9 and sequestering it from signaling complexes (PubMed:22423967).2 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 - 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

Biological processAutophagy, Endocytosis, Immunity, Phagocytosis

Enzyme and pathway databases

SIGNOR Signaling Network Open Resource

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SIGNORi
Q92622

<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:
Run domain Beclin-1-interacting and cysteine-rich domain-containing proteinImported
Short name:
Rubicon
Alternative name(s):
Beclin-1 associated RUN domain containing protein
Short name:
Baron
<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:RUBCNImported
Synonyms:KIAA0226
<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 3

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28991 RUBCN

Online Mendelian Inheritance in Man (OMIM)

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MIMi
613516 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q92622

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Endosome, Lysosome

<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

Spinocerebellar ataxia, autosomal recessive, 15 (SCAR15)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSpinocerebellar ataxia defines a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR15 patients manifest cerebellar ataxia in early childhood and delayed motor development with delayed walking. Additional features include dysarthria, upper limb involvement, abnormal eye movements, and hyporeflexia.
See also OMIM:615705

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>Mutagenesisi248S → A: Disrupts interaction with YWHAB. 1 Publication1
Mutagenesisi912C → G: Disrupts interaction with Rab7, translocation to cytoplasm; when associated with G-915, L-920 and G-923. 1 Publication1
Mutagenesisi915C → G: Disrupts interaction with Rab7, translocation to cytoplasm; when associated with G-912, L-920 and G-923. 1 Publication1
Mutagenesisi920H → L: Disrupts interaction with Rab7, translocation to cytoplasm; when associated with G-912,G-915 and G-923. 1 Publication1
Mutagenesisi923C → G: Disrupts interaction with Rab7, translocation to cytoplasm; when associated with G-912, G-915 and L-920. 1 Publication1

Keywords - Diseasei

Neurodegeneration

Organism-specific databases

DisGeNET

More...
DisGeNETi
9711

MalaCards human disease database

More...
MalaCardsi
RUBCN
MIMi615705 phenotype

Open Targets

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OpenTargetsi
ENSG00000145016

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

More...
Orphaneti
404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA134887849

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
RUBCN

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296439479

<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_00000507361 – 972Run domain Beclin-1-interacting and cysteine-rich domain-containing proteinAdd BLAST972

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 residuei197PhosphoserineCombined sources1
Modified residuei248PhosphoserineCombined sources1
Modified residuei266PhosphoserineCombined sources1
Modified residuei388PhosphoserineCombined sources1
Modified residuei410PhosphoserineBy similarity1
Modified residuei528PhosphoserineCombined sources1
Modified residuei562PhosphoserineCombined sources1
Modified residuei671PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q92622

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q92622

MaxQB - The MaxQuant DataBase

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MaxQBi
Q92622

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

More...
PaxDbi
Q92622

PeptideAtlas

More...
PeptideAtlasi
Q92622

PRoteomics IDEntifications database

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PRIDEi
Q92622

ProteomicsDB human proteome resource

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ProteomicsDBi
75375
75376 [Q92622-2]
75377 [Q92622-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q92622

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

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PhosphoSitePlusi
Q92622

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000145016 Expressed in 228 organ(s), highest expression level in small intestine Peyer's patch

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q92622 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q92622 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA050908
HPA054497

<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

Associates with PI3K (PI3KC3/PI3K-III/class III phosphatidylinositol 3-kinase) complex II (PI3KC3-C2) in which the core composed of the catalytic subunit PIK3C3, the regulatory subunit PIK3R4 and BECN1 is associated with UVRAG; in the complex interacts directly with PI3KC3 and UVRAG (PubMed:19270696, PubMed:21062745). Interacts with Rab7 (RAB7A or RAB7B) (GTP-bound form); Rab7 and UVRAG compete for RUBCN binding; can interact simultaneously with Rab7 and the PI3K complex (PubMed:20943950, PubMed:20974968, PubMed:21062745). Interacts with CYBA and CYBB; indicative for the association with the CYBA:CYBB NADPH oxidase heterodimer. Interacts with NOX4 and probably associates with the CYBA:NOX4 complex (PubMed:22423966). Interacts with YWHAB and CARD9 in a competetive and stimulation-dependent manner; RUBCN exchanges interaction from YWHAB to CARD9 upon stimulation with beta-1,3-glucan (PubMed:22423967).6 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115062, 10 interactors

Protein interaction database and analysis system

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IntActi
Q92622, 21 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000296343

<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>Domaini48 – 189RUNPROSITE-ProRule annotationAdd BLAST142

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni49 – 180Interaction with PIK3C32 PublicationsAdd BLAST132
Regioni204 – 447Interaction with YWHAB1 PublicationAdd BLAST244
Regioni300 – 600Interaction with UVRAG1 PublicationAdd BLAST301
Regioni505 – 557Interaction with BECN11 PublicationAdd BLAST53
Regioni567 – 625Interaction with CYBA1 PublicationAdd BLAST59
Regioni672 – 760Interaction with CARD91 PublicationAdd BLAST89
Regioni721 – 972Interaction with Rab71 PublicationAdd BLAST252

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi204 – 447Ser-richAdd BLAST244
Compositional biasi567 – 625Ser-richAdd BLAST59
Compositional biasi881 – 932Cys-richAdd BLAST52

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG1829 Eukaryota
KOG4381 Eukaryota
ENOG410XQ7T LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000160658

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000113142

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q92622

KEGG Orthology (KO)

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KOi
K19330

Identification of Orthologs from Complete Genome Data

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OMAi
IFNIHPA

Database for complete collections of gene phylogenies

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PhylomeDBi
Q92622

TreeFam database of animal gene trees

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TreeFami
TF317067

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR004012 Run_dom
IPR037213 Run_dom_sf
IPR025258 Zf-RING_9

Pfam protein domain database

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Pfami
View protein in Pfam
PF02759 RUN, 1 hit
PF13901 zf-RING_9, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM01175 DUF4206, 1 hit
SM00593 RUN, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF140741 SSF140741, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50826 RUN, 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 (3+)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 3 <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 3 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92622-1) [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
MRPEGAGMEL GGGEERLPEE SRREHWQLLG NLKTTVEGLV STNSPNVWSK
60 70 80 90 100
YGGLERLCRD MQSILYHGLI RDQACRRQTD YWQFVKDIRW LSPHSALHVE
110 120 130 140 150
KFISVHENDQ SSADGASERA VAELWLQHSL QYHCLSAQLR PLLGDRQYIR
160 170 180 190 200
KFYTDAAFLL SDAHVTAMLQ CLEAVEQNNP RLLAQIDASM FARKHESPLL
210 220 230 240 250
VTKSQSLTAL PSSTYTPPNS YAQHSYFGSF SSLHQSVPNN GSERRSTSFP
260 270 280 290 300
LSGPPRKPQE SRGHVSPAED QTIQAPPVSV SALARDSPLT PNEMSSSTLT
310 320 330 340 350
SPIEASWVSS QNDSPGDASE GPEYLAIGNL DPRGRTASCQ SHSSNAESSS
360 370 380 390 400
SNLFSSSSSQ KPDSAASSLG DQEGGGESQL SSVLRRSSFS EGQTLTVTSG
410 420 430 440 450
AKKSHIRSHS DTSIASRGAP ESCNDKAKLR GPLPYSGQSS EVSTPSSLYM
460 470 480 490 500
EYEGGRYLCS GEGMFRRPSE GQSLISYLSE QDFGSCADLE KENAHFSISE
510 520 530 540 550
SLIAAIELMK CNMMSQCLEE EEVEEEDSDR EIQELKQKIR LRRQQIRTKN
560 570 580 590 600
LLPMYQEAEH GSFRVTSSSS QFSSRDSAQL SDSGSADEVD EFEIQDADIR
610 620 630 640 650
RNTASSSKSF VSSQSFSHCF LHSTSAEAVA MGLLKQFEGM QLPAASELEW
660 670 680 690 700
LVPEHDAPQK LLPIPDSLPI SPDDGQHADI YKLRIRVRGN LEWAPPRPQI
710 720 730 740 750
IFNVHPAPTR KIAVAKQNYR CAGCGIRTDP DYIKRLRYCE YLGKYFCQCC
760 770 780 790 800
HENAQMAIPS RVLRKWDFSK YYVSNFSKDL LIKIWNDPLF NVQDINSALY
810 820 830 840 850
RKVKLLNQVR LLRVQLCHMK NMFKTCRLAK ELLDSFDTVP GHLTEDLHLY
860 870 880 890 900
SLNDLTATRK GELGPRLAEL TRAGATHVER CMLCQAKGFI CEFCQNEDDI
910 920 930 940 950
IFPFELHKCR TCEECKACYH KACFKSGSCP RCERLQARRE ALARQSLESY
960 970
LSDYEEEPAE ALALEAAVLE AT
Length:972
Mass (Da):108,622
Last modified:May 18, 2010 - v4
<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:i4B76166F29F5AF97
GO
Isoform 2 (identifier: Q92622-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-60: Missing.
     420-420: P → PGGPRNITIIVEDPIA

Show »
Length:927
Mass (Da):103,459
Checksum:iA5C4783CEEC0988A
GO
Isoform 3 (identifier: Q92622-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     596-596: D → DGSEGSNLTHISKNGLSVSLASMFSD
     883-896: LCQAKGFICEFCQN → VRKSHCSMQLSPCF
     897-972: Missing.

Note: No experimental confirmation available.
Show »
Length:921
Mass (Da):102,506
Checksum:iEC978A4C7F1948A9
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 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y6E6H0Y6E6_HUMAN
Run domain Beclin-1-interacting and...
RUBCN
934Annotation score:

Annotation score:2 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>
H7C357H7C357_HUMAN
Run domain Beclin-1-interacting and...
RUBCN
680Annotation 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>
H7C3H3H7C3H3_HUMAN
Run domain Beclin-1-interacting and...
RUBCN
147Annotation 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>
E9PEM3E9PEM3_HUMAN
Run domain Beclin-1-interacting and...
RUBCN
435Annotation 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>
A0A096LNI3A0A096LNI3_HUMAN
Run domain Beclin-1-interacting and...
RUBCN
24Annotation 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>

<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 BAA13215 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

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_0391601 – 60Missing in isoform 2. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_039161420P → PGGPRNITIIVEDPIA in isoform 2. 1 Publication1
Alternative sequenceiVSP_039471596D → DGSEGSNLTHISKNGLSVSL ASMFSD in isoform 3. Curated1
Alternative sequenceiVSP_039472883 – 896LCQAK…EFCQN → VRKSHCSMQLSPCF in isoform 3. CuratedAdd BLAST14
Alternative sequenceiVSP_039473897 – 972Missing in isoform 3. CuratedAdd BLAST76

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
D86979 mRNA Translation: BAA13215.3 Different initiation.
AC024560 Genomic DNA No translation available.
BX437131 mRNA No translation available.
BC014173 mRNA Translation: AAH14173.2

The Consensus CDS (CCDS) project

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CCDSi
CCDS43195.1 [Q92622-1]
CCDS46987.1 [Q92622-2]

NCBI Reference Sequences

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RefSeqi
NP_001139114.1, NM_001145642.4 [Q92622-2]
NP_055502.1, NM_014687.3 [Q92622-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000273582; ENSP00000273582; ENSG00000145016 [Q92622-2]
ENST00000296343; ENSP00000296343; ENSG00000145016 [Q92622-1]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9711

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9711

UCSC genome browser

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UCSCi
uc003fyc.3 human [Q92622-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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
D86979 mRNA Translation: BAA13215.3 Different initiation.
AC024560 Genomic DNA No translation available.
BX437131 mRNA No translation available.
BC014173 mRNA Translation: AAH14173.2
CCDSiCCDS43195.1 [Q92622-1]
CCDS46987.1 [Q92622-2]
RefSeqiNP_001139114.1, NM_001145642.4 [Q92622-2]
NP_055502.1, NM_014687.3 [Q92622-1]

3D structure databases

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...

SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
Submit a new modelling project...

Protein-protein interaction databases

BioGridi115062, 10 interactors
IntActiQ92622, 21 interactors
STRINGi9606.ENSP00000296343

PTM databases

iPTMnetiQ92622
PhosphoSitePlusiQ92622

Polymorphism and mutation databases

BioMutaiRUBCN
DMDMi296439479

Proteomic databases

EPDiQ92622
jPOSTiQ92622
MaxQBiQ92622
PaxDbiQ92622
PeptideAtlasiQ92622
PRIDEiQ92622
ProteomicsDBi75375
75376 [Q92622-2]
75377 [Q92622-3]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
9711
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000273582; ENSP00000273582; ENSG00000145016 [Q92622-2]
ENST00000296343; ENSP00000296343; ENSG00000145016 [Q92622-1]
GeneIDi9711
KEGGihsa:9711
UCSCiuc003fyc.3 human [Q92622-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9711
DisGeNETi9711

GeneCards: human genes, protein and diseases

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GeneCardsi
RUBCN
HGNCiHGNC:28991 RUBCN
HPAiHPA050908
HPA054497
MalaCardsiRUBCN
MIMi613516 gene
615705 phenotype
neXtProtiNX_Q92622
OpenTargetsiENSG00000145016
Orphaneti404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
PharmGKBiPA134887849

Human Unidentified Gene-Encoded large proteins database

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HUGEi
Search...

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG1829 Eukaryota
KOG4381 Eukaryota
ENOG410XQ7T LUCA
GeneTreeiENSGT00940000160658
HOGENOMiHOG000113142
InParanoidiQ92622
KOiK19330
OMAiIFNIHPA
PhylomeDBiQ92622
TreeFamiTF317067

Enzyme and pathway databases

SIGNORiQ92622

Miscellaneous databases

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

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ChiTaRSi
RUBCN human

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

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GenomeRNAii
9711

Protein Ontology

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PROi
PR:Q92622

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000145016 Expressed in 228 organ(s), highest expression level in small intestine Peyer's patch
ExpressionAtlasiQ92622 baseline and differential
GenevisibleiQ92622 HS

Family and domain databases

InterProiView protein in InterPro
IPR004012 Run_dom
IPR037213 Run_dom_sf
IPR025258 Zf-RING_9
PfamiView protein in Pfam
PF02759 RUN, 1 hit
PF13901 zf-RING_9, 1 hit
SMARTiView protein in SMART
SM01175 DUF4206, 1 hit
SM00593 RUN, 1 hit
SUPFAMiSSF140741 SSF140741, 1 hit
PROSITEiView protein in PROSITE
PS50826 RUN, 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 nameiRUBIC_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: Q92622
Secondary accession number(s): Q96CK5
<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: November 1, 1997
Last sequence update: May 18, 2010
Last modified: May 8, 2019
This is version 139 of the entry and version 4 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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