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Entry version 121 (08 May 2019)
Sequence version 1 (01 Oct 2002)
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Protein

UPF0690 protein C1orf52

Gene

C1orf52

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

Annotation score:3 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

<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

<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:
UPF0690 protein C1orf52
Alternative name(s):
BCL10-associated gene protein
<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:C1orf52
Synonyms:BAG
ORF Names:GM117
<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 1

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:24871 C1orf52

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8N6N3

<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

<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

Organism-specific databases

DisGeNET

More...
DisGeNETi
148423

Open Targets

More...
OpenTargetsi
ENSG00000162642

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA142672503

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C1orf52

<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_00002546301 – 182UPF0690 protein C1orf52Add BLAST182

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 residuei67PhosphothreonineCombined sources1
Modified residuei132PhosphotyrosineCombined sources1
Modified residuei158PhosphoserineCombined sources1

<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>Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8N6N3

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8N6N3

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8N6N3

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

More...
PaxDbi
Q8N6N3

PeptideAtlas

More...
PeptideAtlasi
Q8N6N3

PRoteomics IDEntifications database

More...
PRIDEi
Q8N6N3

ProteomicsDB human proteome resource

More...
ProteomicsDBi
72204
72205 [Q8N6N3-2]
72206 [Q8N6N3-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8N6N3

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

More...
PhosphoSitePlusi
Q8N6N3

<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 all tissues tested including heart, placenta, liver, skeletal muscle, kidney and pancreas. Weak expression in brain and lung.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000162642 Expressed in 201 organ(s), highest expression level in metanephros

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8N6N3 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA036072
HPA061790

<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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
127149, 22 interactors

Protein interaction database and analysis system

More...
IntActi
Q8N6N3, 19 interactors

Molecular INTeraction database

More...
MINTi
Q8N6N3

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000419417

<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

<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 UPF0690 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IH5J Eukaryota
ENOG4111NBN LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000017398

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000111220

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8N6N3

Identification of Orthologs from Complete Genome Data

More...
OMAi
RVETFQQ

Database of Orthologous Groups

More...
OrthoDBi
1478094at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8N6N3

TreeFam database of animal gene trees

More...
TreeFami
TF333299

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029089 DUF4660

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15559 DUF4660, 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>. 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 (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
Isoform 1 (identifier: Q8N6N3-1) [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
MAAEEKDPLS YFAAYGSSSS GSSDEEDNIE PEETSRRTPD PAKSAGGCRN
60 70 80 90 100
KAEKRLPGPD ELFRSVTRPA FLYNPLNKQI DWERHVVKAP EEPPKEFKIW
110 120 130 140 150
KSNYVPPPET YTTEKKPPPP ELDMAIKWSN IYEDNGDDAP QNAKKARLLP
160 170 180
EGEETLESDD EKDEHTSKKR KVEPGEPAKK KK
Length:182
Mass (Da):20,599
Last modified:October 1, 2002 - v1
<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:i77CFC1D3300C9329
GO
Isoform 2 (identifier: Q8N6N3-2) [UniParc]FASTAAdd to basket
Also known as: GM117 form A

The sequence of this isoform differs from the canonical sequence as follows:
     159-167: DDEKDEHTS → ALEDLEIQN
     168-182: Missing.

Show »
Length:167
Mass (Da):18,835
Checksum:iCDFAC828FC3E10A3
GO
Isoform 3 (identifier: Q8N6N3-3) [UniParc]FASTAAdd to basket
Also known as: GM117 form B

The sequence of this isoform differs from the canonical sequence as follows:
     93-100: PPKEFKIW → LLPETPSL
     101-182: Missing.

Show »
Length:100
Mass (Da):11,107
Checksum:i327B62B9A6F9E537
GO

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_02126793 – 100PPKEFKIW → LLPETPSL in isoform 3. 3 Publications8
Alternative sequenceiVSP_021268101 – 182Missing in isoform 3. 3 PublicationsAdd BLAST82
Alternative sequenceiVSP_021269159 – 167DDEKDEHTS → ALEDLEIQN in isoform 2. 1 Publication9
Alternative sequenceiVSP_021270168 – 182Missing in isoform 2. 1 PublicationAdd BLAST15

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF387611 mRNA Translation: AAL91352.1
AF387612 mRNA Translation: AAL91353.1
AY486331 mRNA Translation: AAS57906.1
AY486332 mRNA Translation: AAS57907.1
AK126929 mRNA Translation: BAG54401.1
AL590113 Genomic DNA No translation available.
BC029538 mRNA Translation: AAH29538.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS703.1 [Q8N6N3-1]

NCBI Reference Sequences

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RefSeqi
NP_932343.1, NM_198077.3 [Q8N6N3-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000344356; ENSP00000345092; ENSG00000162642 [Q8N6N3-2]
ENST00000471115; ENSP00000419417; ENSG00000162642 [Q8N6N3-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
148423

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:148423

UCSC genome browser

More...
UCSCi
uc001dkv.4 human [Q8N6N3-1]

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
AF387611 mRNA Translation: AAL91352.1
AF387612 mRNA Translation: AAL91353.1
AY486331 mRNA Translation: AAS57906.1
AY486332 mRNA Translation: AAS57907.1
AK126929 mRNA Translation: BAG54401.1
AL590113 Genomic DNA No translation available.
BC029538 mRNA Translation: AAH29538.1
CCDSiCCDS703.1 [Q8N6N3-1]
RefSeqiNP_932343.1, NM_198077.3 [Q8N6N3-1]

3D structure databases

Database of comparative protein structure models

More...
ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGridi127149, 22 interactors
IntActiQ8N6N3, 19 interactors
MINTiQ8N6N3
STRINGi9606.ENSP00000419417

PTM databases

iPTMnetiQ8N6N3
PhosphoSitePlusiQ8N6N3

Polymorphism and mutation databases

BioMutaiC1orf52

Proteomic databases

EPDiQ8N6N3
jPOSTiQ8N6N3
MaxQBiQ8N6N3
PaxDbiQ8N6N3
PeptideAtlasiQ8N6N3
PRIDEiQ8N6N3
ProteomicsDBi72204
72205 [Q8N6N3-2]
72206 [Q8N6N3-3]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000344356; ENSP00000345092; ENSG00000162642 [Q8N6N3-2]
ENST00000471115; ENSP00000419417; ENSG00000162642 [Q8N6N3-1]
GeneIDi148423
KEGGihsa:148423
UCSCiuc001dkv.4 human [Q8N6N3-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
148423
DisGeNETi148423

GeneCards: human genes, protein and diseases

More...
GeneCardsi
C1orf52

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0000743
HGNCiHGNC:24871 C1orf52
HPAiHPA036072
HPA061790
neXtProtiNX_Q8N6N3
OpenTargetsiENSG00000162642
PharmGKBiPA142672503

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IH5J Eukaryota
ENOG4111NBN LUCA
GeneTreeiENSGT00390000017398
HOGENOMiHOG000111220
InParanoidiQ8N6N3
OMAiRVETFQQ
OrthoDBi1478094at2759
PhylomeDBiQ8N6N3
TreeFamiTF333299

Miscellaneous databases

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

More...
GenomeRNAii
148423

Protein Ontology

More...
PROi
PR:Q8N6N3

Gene expression databases

BgeeiENSG00000162642 Expressed in 201 organ(s), highest expression level in metanephros
GenevisibleiQ8N6N3 HS

Family and domain databases

InterProiView protein in InterPro
IPR029089 DUF4660
PfamiView protein in Pfam
PF15559 DUF4660, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
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 nameiCA052_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: Q8N6N3
Secondary accession number(s): B3KX89, Q8TDK5, Q8TDK6
<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: October 31, 2006
Last sequence update: October 1, 2002
Last modified: May 8, 2019
This is version 121 of the entry and version 1 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. SIMILARITY comments
    Index of protein domains and families
  2. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
  3. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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