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UniProtKB - Q9H714 (PACER_HUMAN)

Entry version 134 (07 Apr 2021)
Sequence version 3 (23 Sep 2008)
Previous versions | rss
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Protein

Protein associated with UVRAG as autophagy enhancer

Gene

RUBCNL

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

Regulator of autophagy that promotes autophagosome maturation by facilitating the biogenesis of phosphatidylinositol 3-phosphate (PtdIns3P) in late steps of autophagy (PubMed:28306502, PubMed:30704899). Acts by antagonizing RUBCN, thereby stimulating phosphatidylinositol 3-kinase activity of the PI3K/PI3KC3 complex (PubMed:28306502). Following anchorage to the autophagosomal SNARE STX17, promotes the recruitment of PI3K/PI3KC3 and HOPS complexes to the autophagosome to regulate the fusion specificity of autophagosomes with late endosomes/lysosomes (PubMed:28306502). Binds phosphoinositides phosphatidylinositol 3-phosphate (PtdIns3P), 4-phosphate (PtdIns4P) and 5-phosphate (PtdIns5P) (PubMed:28306502). In addition to its role in autophagy, acts as a regulator of lipid and glycogen homeostasis (By similarity). May act as a tumor suppressor (Probable).By similarity1 Publication2 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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, Lipid metabolism
LigandLipid-binding

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9H714

<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%5Fand%5Ftaxonomy%5Fsection">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:
Protein associated with UVRAG as autophagy enhancer1 Publication
Short name:
Pacer1 Publication
Alternative name(s):
Protein Rubicon-likeCurated
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:RUBCNLImported
Synonyms:C13orf18Imported, KIAA0226LImported
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 13

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:20420, RUBCNL

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9H714

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000102445.18

<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

Keywords - Cellular componenti

Cytoplasmic vesicle, 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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'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>Mutagenesisi157S → A: Abolished phosphorylation by MTOR, leading to promote interaction with STX17 and autophagosome maturation. 1 Publication1
Mutagenesisi157S → D: Phosphomimetic mutant; impaired interaction with STX17 and abolished ability to promote autophagosome maturation. 1 Publication1
Mutagenesisi204 – 208VEKEN → AAAAA: Abolishes interaction with UVRAG. 1 Publication5
Mutagenesisi483K → R: Abolished acetylation by KAT5/TIP60 and abolished ability to promote autophagosome maturation; when associated with R-523, R-533, R-573 and R-633. 1
Mutagenesisi523K → R: Abolished acetylation by KAT5/TIP60 and abolished ability to promote autophagosome maturation; when associated with R-483, R-533, R-573 and R-633. 1
Mutagenesisi533K → R: Abolished acetylation by KAT5/TIP60 and abolished ability to promote autophagosome maturation; when associated with R-483, R-523, R-573 and R-633. 1
Mutagenesisi573K → R: Abolished acetylation by KAT5/TIP60 and abolished ability to promote autophagosome maturation; when associated with R-483, R-523, R-533 and R-633. 1
Mutagenesisi633K → R: Abolished acetylation by KAT5/TIP60 and abolished ability to promote autophagosome maturation; when associated with R-483, R-523, R-533 and R-573. 1

Organism-specific databases

DisGeNET

More...DisGeNETi		80183

Open Targets

More...OpenTargetsi		ENSG00000102445

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134942431

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9H714, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RUBCNL

Domain mapping of disease mutations (DMDM)

More...DMDMi		206729926

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000898801 – 662Protein associated with UVRAG as autophagy enhancerAdd BLAST662

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 residuei157Phosphoserine; by MTOR1 Publication1
Modified residuei483N6-acetyllysine1 Publication1
Modified residuei523N6-acetyllysine1 Publication1
Modified residuei533N6-acetyllysine1 Publication1
Modified residuei573N6-acetyllysine1 Publication1
Modified residuei633N6-acetyllysine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">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

Phosphorylated by MTOR at Ser-157 under nutrient-rich conditions (PubMed:30704899). Phosphorylation prevents acetylation by KAT5/TIP60 and impairs RUBCNL/PACER function and autophagosome maturation (PubMed:30704899). Under autophagy induction, Phosphorylation by MTOR is repressed, enabling acetylation by KAT5/TIP60 (PubMed:30704899).1 Publication
Acetylated by KAT5/TIP60 under autophagy induction, promoting autophagosome maturation and lipid metabolism (PubMed:30704899). Acetylation is prevented by phosphorylation by MTOR (PubMed:30704899). Lys-483 and Lys-573 constitute the key sites for tuning function in autophagy (PubMed:30704899).1 Publication

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9H714

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9H714

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

More...PaxDbi		Q9H714

PeptideAtlas

More...PeptideAtlasi		Q9H714

PRoteomics IDEntifications database

More...PRIDEi		Q9H714

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		1901
81072 [Q9H714-5]
81073 [Q9H714-1]
81074 [Q9H714-2]
81075 [Q9H714-3]
81076 [Q9H714-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9H714

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

More...PhosphoSitePlusi		Q9H714

<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 weakly in cervical carcinoma cell lines.1 Publication

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Up-regulated by epigenetic drugs, such as azacitidine, and artificial transcription factors (ATFs)-induced treatments in cervical carcinoma cell lines.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000102445, Expressed in bone marrow and 197 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9H714, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9H714, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000102445, Tissue enhanced (blood, lymphoid tissue)

<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%5Fsection">'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%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with UVRAG; the interaction is direct and promotes association with the PI3K/PI3KC3 and HOPS complexes (PubMed:28306502).

Interacts with STX17 (PubMed:28306502, PubMed:30704899).

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		123162, 10 interactors

Protein interaction database and analysis system

More...IntActi		Q9H714, 9 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000374558

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9H714, protein

<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

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

More...SMRi		Q9H714

Database of comparative protein structure models

More...ModBasei		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

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>Regioni196 – 235Interaction with UVRAG1 PublicationAdd BLAST40

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 biasi86 – 131Ser-richAdd BLAST46

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1829, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000160585

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9H714

Identification of Orthologs from Complete Genome Data

More...OMAi		FEQVPSH

Database of Orthologous Groups

More...OrthoDBi		177737at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9H714

TreeFam database of animal gene trees

More...TreeFami		TF317067

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR025258, Zf-RING_9

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13901, zf-RING_9, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01175, DUF4206, 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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (6+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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 6 <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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 6 described isoforms and 9 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9H714-5) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MVSQSTVRQD SPVEPWEGIS DHSGIIDGSP RLLNTDHPPC QLDIRLMRHK 
        60         70         80         90        100
AVWINPQDVQ QQPQDLQSQV PAAGNSGTHF VTDAASPSGP SPSCLGDSLA 
       110        120        130        140        150
ETTLSEDTTD SVGSASPHGS SEKSSSFSLS STEVHMVRPG YSHRVSLPTS 
       160        170        180        190        200
PGILATSPYP ETDSAFFEPS HLTSAADEGA VQVSRRTISS NSFSPEVFVL 
       210        220        230        240        250
PVDVEKENAH FYVADMIISA MEKMKCNILS QQQTESWSKE VSGLLGSDQP 
       260        270        280        290        300
DSEMTFDTNI KQESGSSTSS YSGYEGCAVL QVSPVTETRT YHDVKEICKC 
       310        320        330        340        350
DVDEFVILEL GDFNDITETC SCSCSSSKSV TYEPDFNSAE LLAKELYRVF 
       360        370        380        390        400
QKCWILSVVN SQLAGSLSAA GSIVVNEECV RKDFESSMNV VQEIKFKSRI 
       410        420        430        440        450
RGTEDWAPPR FQIIFNIHPP LKRDLVVAAQ NFFCAGCGTP VEPKFVKRLR 
       460        470        480        490        500
YCEYLGKYFC DCCHSYAESC IPARILMMWD FKKYYVSNFS KQLLDSIWHQ 
       510        520        530        540        550
PIFNLLSIGQ SLYAKAKELD RVKEIQEQLF HIKKLLKTCR FANSALKEFE 
       560        570        580        590        600
QVPGHLTDEL HLFSLEDLVR IKKGLLAPLL KDILKASLAH VAGCELCQGK 
       610        620        630        640        650
GFICEFCQNT TVIFPFQTAT CRRCSACRAC FHKQCFQSSE CPRCARITAR 
       660 
RKLLESVASA AT
Length:662
Mass (Da):73,457
Last modified:September 23, 2008 - v3
<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:i0AAA3C0F76CDAED8
GO
Isoform 5 (identifier: Q9H714-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     545-662: ALKEFEQVPG...LLESVASAAT → CVKERALFVN...MITPICVYYW

Show »
Length:635
Mass (Da):70,804
Checksum:i940B4217A7A5CB00
GO
Isoform 2 (identifier: Q9H714-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-88: MVSQSTVRQD...HFVTDAASPS → MVSNHYFLLCVNLPLREIHTP

Show »
Length:595
Mass (Da):66,332
Checksum:i236D8B25EF1598F5
GO
Isoform 3 (identifier: Q9H714-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     309-321: ELGDFNDITETCS → VSLMSQTSILQNY
     322-662: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:321
Mass (Da):34,713
Checksum:iFE0420F7D72F8E25
GO
Isoform 4 (identifier: Q9H714-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     136-147: MVRPGYSHRVSL → KACMRKPRSWTE
     148-662: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:147
Mass (Da):15,736
Checksum:iFF8A9EDB6424872E
GO
Isoform 6 (identifier: Q9H714-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-135: Missing.

Show »
Length:527
Mass (Da):59,214
Checksum:iC01D8165ADF32673
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 9 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A8XR14A8XR14_HUMAN
Protein-associated with UVRAG as au...
RUBCNL
178Annotation 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>
Q5W050Q5W050_HUMAN
Protein-associated with UVRAG as au...
RUBCNL
129Annotation 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>
E7EMA2E7EMA2_HUMAN
Protein-associated with UVRAG as au...
RUBCNL
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>
A0A6Q8PFX0A0A6Q8PFX0_HUMAN
Protein-associated with UVRAG as au...
RUBCNL
571Annotation 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>
A0A6Q8PF39A0A6Q8PF39_HUMAN
Protein-associated with UVRAG as au...
RUBCNL
479Annotation 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>
A0A6Q8PH05A0A6Q8PH05_HUMAN
Protein-associated with UVRAG as au...
RUBCNL
253Annotation 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>
A0A0A0MRV7A0A0A0MRV7_HUMAN
Protein-associated with UVRAG as au...
RUBCNL
447Annotation 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>
B7ZBN5B7ZBN5_HUMAN
Protein-associated with UVRAG as au...
RUBCNL
505Annotation 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>
A0A6Q8PGJ9A0A6Q8PGJ9_HUMAN
Protein-associated with UVRAG as au...
RUBCNL
105Annotation 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>

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 conflicti234 – 236TES → ARG in AAH04495 (PubMed:15489334).Curated3
Sequence conflicti469S → P in BAG52649 (PubMed:14702039).Curated1
Sequence conflicti549F → L in BAG52649 (PubMed:14702039).Curated1

Natural variant

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_022912152G → R2 PublicationsCorresponds to variant dbSNP:rs1408184Ensembl.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_0552601 – 135Missing in isoform 6. 1 PublicationAdd BLAST135
Alternative sequenceiVSP_0147081 – 88MVSQS…AASPS → MVSNHYFLLCVNLPLREIHT P in isoform 2. 1 PublicationAdd BLAST88
Alternative sequenceiVSP_014709136 – 147MVRPG…HRVSL → KACMRKPRSWTE in isoform 4. 1 PublicationAdd BLAST12
Alternative sequenceiVSP_014710148 – 662Missing in isoform 4. 1 PublicationAdd BLAST515
Alternative sequenceiVSP_014711309 – 321ELGDF…TETCS → VSLMSQTSILQNY in isoform 3. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_014712322 – 662Missing in isoform 3. 1 PublicationAdd BLAST341
Alternative sequenceiVSP_014713545 – 662ALKEF…ASAAT → CVKERALFVNFARIRLSSSH FRQQHVEDVQRAGLAFTNSA SSPPSAPGVRGSQRGENFWK VWPLQQHDAPEYCEKDCSTC LMITPICVYYW in isoform 5. 1 PublicationAdd BLAST118

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
AK025215 mRNA Translation: BAB15086.1
AK093073 mRNA Translation: BAG52649.1
AK293034 mRNA Translation: BAF85723.1
AL139801 Genomic DNA No translation available.
BC004495 mRNA Translation: AAH04495.1
BC021097 mRNA No translation available.
BC032311 mRNA No translation available.
BC043488 mRNA Translation: AAH43488.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS31970.2 [Q9H714-5]
CCDS66542.1 [Q9H714-6]
CCDS66543.1 [Q9H714-4]
CCDS66545.1 [Q9H714-3]

NCBI Reference Sequences

More...RefSeqi		NP_001273690.1, NM_001286761.1 [Q9H714-5]
NP_001273691.1, NM_001286762.1 [Q9H714-4]
NP_001273692.1, NM_001286763.1 [Q9H714-3]
NP_001273693.1, NM_001286764.1 [Q9H714-6]
NP_079389.2, NM_025113.3 [Q9H714-5]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000378784; ENSP00000368061; ENSG00000102445 [Q9H714-3]
ENST00000378787; ENSP00000368064; ENSG00000102445 [Q9H714-4]
ENST00000389908; ENSP00000374558; ENSG00000102445 [Q9H714-5]
ENST00000417405; ENSP00000402357; ENSG00000102445 [Q9H714-4]
ENST00000429979; ENSP00000396935; ENSG00000102445 [Q9H714-5]
ENST00000631139; ENSP00000485932; ENSG00000102445 [Q9H714-6]
ENST00000676051; ENSP00000501843; ENSG00000102445 [Q9H714-6]
ENST00000676114; ENSP00000502252; ENSG00000102445 [Q9H714-5]
ENST00000676307; ENSP00000502015; ENSG00000102445 [Q9H714-5]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		80183

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:80183

UCSC genome browser

More...UCSCi		uc001vbe.6, human [Q9H714-5]

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
AK025215 mRNA Translation: BAB15086.1
AK093073 mRNA Translation: BAG52649.1
AK293034 mRNA Translation: BAF85723.1
AL139801 Genomic DNA No translation available.
BC004495 mRNA Translation: AAH04495.1
BC021097 mRNA No translation available.
BC032311 mRNA No translation available.
BC043488 mRNA Translation: AAH43488.1
CCDSiCCDS31970.2 [Q9H714-5]
CCDS66542.1 [Q9H714-6]
CCDS66543.1 [Q9H714-4]
CCDS66545.1 [Q9H714-3]
RefSeqiNP_001273690.1, NM_001286761.1 [Q9H714-5]
NP_001273691.1, NM_001286762.1 [Q9H714-4]
NP_001273692.1, NM_001286763.1 [Q9H714-3]
NP_001273693.1, NM_001286764.1 [Q9H714-6]
NP_079389.2, NM_025113.3 [Q9H714-5]

3D structure databases

SMRiQ9H714
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi123162, 10 interactors
IntActiQ9H714, 9 interactors
STRINGi9606.ENSP00000374558

PTM databases

iPTMnetiQ9H714
PhosphoSitePlusiQ9H714

Genetic variation databases

BioMutaiRUBCNL
DMDMi206729926

Proteomic databases

jPOSTiQ9H714
MassIVEiQ9H714
PaxDbiQ9H714
PeptideAtlasiQ9H714
PRIDEiQ9H714
ProteomicsDBi1901
81072 [Q9H714-5]
81073 [Q9H714-1]
81074 [Q9H714-2]
81075 [Q9H714-3]
81076 [Q9H714-4]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		23706, 144 antibodies

Genome annotation databases

EnsembliENST00000378784; ENSP00000368061; ENSG00000102445 [Q9H714-3]
ENST00000378787; ENSP00000368064; ENSG00000102445 [Q9H714-4]
ENST00000389908; ENSP00000374558; ENSG00000102445 [Q9H714-5]
ENST00000417405; ENSP00000402357; ENSG00000102445 [Q9H714-4]
ENST00000429979; ENSP00000396935; ENSG00000102445 [Q9H714-5]
ENST00000631139; ENSP00000485932; ENSG00000102445 [Q9H714-6]
ENST00000676051; ENSP00000501843; ENSG00000102445 [Q9H714-6]
ENST00000676114; ENSP00000502252; ENSG00000102445 [Q9H714-5]
ENST00000676307; ENSP00000502015; ENSG00000102445 [Q9H714-5]
GeneIDi80183
KEGGihsa:80183
UCSCiuc001vbe.6, human [Q9H714-5]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		80183
DisGeNETi80183

GeneCards: human genes, protein and diseases

More...GeneCardsi		RUBCNL
HGNCiHGNC:20420, RUBCNL
HPAiENSG00000102445, Tissue enhanced (blood, lymphoid tissue)
neXtProtiNX_Q9H714
OpenTargetsiENSG00000102445
PharmGKBiPA134942431
VEuPathDBiHostDB:ENSG00000102445.18

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1829, Eukaryota
GeneTreeiENSGT00940000160585
InParanoidiQ9H714
OMAiFEQVPSH
OrthoDBi177737at2759
PhylomeDBiQ9H714
TreeFamiTF317067

Enzyme and pathway databases

PathwayCommonsiQ9H714

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		80183, 3 hits in 989 CRISPR screens

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

More...ChiTaRSi		RUBCNL, human

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

More...GenomeRNAii		80183
PharosiQ9H714, Tbio

Protein Ontology

More...PROi		PR:Q9H714
RNActiQ9H714, protein

Gene expression databases

BgeeiENSG00000102445, Expressed in bone marrow and 197 other tissues
ExpressionAtlasiQ9H714, baseline and differential
GenevisibleiQ9H714, HS

Family and domain databases

InterProiView protein in InterPro
IPR025258, Zf-RING_9
PfamiView protein in Pfam
PF13901, zf-RING_9, 1 hit
SMARTiView protein in SMART
SM01175, DUF4206, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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 nameiPACER_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: Q9H714
Secondary accession number(s): A8KAG9
, A8XR19, B3KS87, Q5W051, Q5W053, Q6PJ74, Q6PK94, Q86XH7, Q8N5J6
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: September 23, 2008
Last modified: April 7, 2021
This is version 134 of the entry and version 3 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

Reference proteome

Documents

  1. Human chromosome 13
    Human chromosome 13: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
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