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UniProtKB - Q5SZB4 (CI050_HUMAN)

Entry version 98 (07 Apr 2021)
Sequence version 1 (21 Dec 2004)
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Protein

Uncharacterized protein C9orf50

Gene

C9orf50

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation 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>-Experimental evidence at transcript 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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q5SZB4

<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:
Uncharacterized protein C9orf50
<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:C9orf50
<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 9

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:23677, C9orf50

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q5SZB4

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000179058.6

<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

Open Targets

More...OpenTargetsi		ENSG00000179058

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA142672314

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q5SZB4, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		C9orf50

Domain mapping of disease mutations (DMDM)

More...DMDMi		74744124

<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_00002951441 – 431Uncharacterized protein C9orf50Add BLAST431

Proteomic databases

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

More...PaxDbi		Q5SZB4

PeptideAtlas

More...PeptideAtlasi		Q5SZB4

PRoteomics IDEntifications database

More...PRIDEi		Q5SZB4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		64049

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q5SZB4

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

More...PhosphoSitePlusi		Q5SZB4

<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		ENSG00000179058, Expressed in left testis and 92 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q5SZB4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q5SZB4, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000179058, Tissue enhanced (testis)

<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		131998, 2 interactors

Protein interaction database and analysis system

More...IntActi		Q5SZB4, 1 interactor

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000361556

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q5SZB4, protein

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502TKNG, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000004321

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_052521_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q5SZB4

Identification of Orthologs from Complete Genome Data

More...OMAi		ANHRPHG

Database of Orthologous Groups

More...OrthoDBi		1120902at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q5SZB4

TreeFam database of animal gene trees

More...TreeFami		TF338486

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR032756, DUF4685

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15737, DUF4685, 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>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q5SZB4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MFWRRLRPGA QDLAPKGLPG DGDFRRSSDP RLPKLTPPAL RAALGARGSG 
        60         70         80         90        100
DWRIPGGGAA WWPEGDAKPG VGVGRLPPRL PALLTATRRA VRKRGLLRSL 
       110        120        130        140        150
LPPPLLSAGA SRESAPRQPG PGERERPRRR VAREDPDFLG AFLGELLPSR 
       160        170        180        190        200
FREFLHQLQE KCAEEPEPLT SPAPQHQRGV LEHCPGSPRC PNCSFLPDLW 
       210        220        230        240        250
GQSSHLQDSL TKISLQQTPI LGPLKGDHSQ FTTVRKANHR PHGAQVPRLK 
       260        270        280        290        300
AALTHNPSGE GSRPCRQRCP FRVRFADETL QDTTLRYWER RRSVQQSVIV 
       310        320        330        340        350
NQKAALPVAS ERVFGSVGKR LESLPKALYP GAKEETLASS SCWDCAGLST 
       360        370        380        390        400
QKTQGYLSED TSMNSSLPFC SWKKAAAQRP RSSLRAFLDP HRNLEQESLL 
       410        420        430 
PNRVLQSVLK QGCPKGYHLL LASATLQPDK R
Length:431
Mass (Da):47,639
Last modified:December 21, 2004 - 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:iBBAF8462594412D0
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WX76A0A087WX76_HUMAN
Chromosome 9 open reading frame 50,...
C9orf50 hCG_30607
69Annotation 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 AK093122 differs from that shown. Reason: Erroneous termination. Truncated C-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti163A → T in AK093122 (PubMed:14702039).Curated1
Sequence conflicti368P → S in AAI12354 (PubMed:15489334).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_033220248R → K. Corresponds to variant dbSNP:rs918165Ensembl.1
Natural variantiVAR_033221312R → Q. Corresponds to variant dbSNP:rs3213763Ensembl.1
Natural variantiVAR_033222381R → Q. Corresponds to variant dbSNP:rs2302779Ensembl.1
Natural variantiVAR_033223415K → R. Corresponds to variant dbSNP:rs3087721Ensembl.1

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
AK093122 mRNA No translation available.
AL590369 Genomic DNA No translation available.
AL391056 Genomic DNA No translation available.
BC112353 mRNA Translation: AAI12354.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS35159.1

NCBI Reference Sequences

More...RefSeqi		NP_955382.3, NM_199350.3
XP_011516957.1, XM_011518655.1
XP_011516958.1, XM_011518656.1

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000372478; ENSP00000361556; ENSG00000179058

Database of genes from NCBI RefSeq genomes

More...GeneIDi		375759

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:375759

UCSC genome browser

More...UCSCi		uc004byc.4, human

<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
AK093122 mRNA No translation available.
AL590369 Genomic DNA No translation available.
AL391056 Genomic DNA No translation available.
BC112353 mRNA Translation: AAI12354.1
CCDSiCCDS35159.1
RefSeqiNP_955382.3, NM_199350.3
XP_011516957.1, XM_011518655.1
XP_011516958.1, XM_011518656.1

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

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

Protein-protein interaction databases

BioGRIDi131998, 2 interactors
IntActiQ5SZB4, 1 interactor
STRINGi9606.ENSP00000361556

PTM databases

iPTMnetiQ5SZB4
PhosphoSitePlusiQ5SZB4

Genetic variation databases

BioMutaiC9orf50
DMDMi74744124

Proteomic databases

PaxDbiQ5SZB4
PeptideAtlasiQ5SZB4
PRIDEiQ5SZB4
ProteomicsDBi64049

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		17886, 39 antibodies

Genome annotation databases

EnsembliENST00000372478; ENSP00000361556; ENSG00000179058
GeneIDi375759
KEGGihsa:375759
UCSCiuc004byc.4, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		375759

GeneCards: human genes, protein and diseases

More...GeneCardsi		C9orf50
HGNCiHGNC:23677, C9orf50
HPAiENSG00000179058, Tissue enhanced (testis)
neXtProtiNX_Q5SZB4
OpenTargetsiENSG00000179058
PharmGKBiPA142672314
VEuPathDBiHostDB:ENSG00000179058.6

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502TKNG, Eukaryota
GeneTreeiENSGT00390000004321
HOGENOMiCLU_052521_1_0_1
InParanoidiQ5SZB4
OMAiANHRPHG
OrthoDBi1120902at2759
PhylomeDBiQ5SZB4
TreeFamiTF338486

Enzyme and pathway databases

PathwayCommonsiQ5SZB4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		375759, 7 hits in 979 CRISPR screens

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

More...GenomeRNAii		375759
PharosiQ5SZB4, Tdark

Protein Ontology

More...PROi		PR:Q5SZB4
RNActiQ5SZB4, protein

Gene expression databases

BgeeiENSG00000179058, Expressed in left testis and 92 other tissues
ExpressionAtlasiQ5SZB4, baseline and differential
GenevisibleiQ5SZB4, HS

Family and domain databases

InterProiView protein in InterPro
IPR032756, DUF4685
PfamiView protein in Pfam
PF15737, DUF4685, 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 nameiCI050_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: Q5SZB4
Secondary accession number(s): Q2M1I2, Q8NA65
<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 10, 2007
Last sequence update: December 21, 2004
Last modified: April 7, 2021
This is version 98 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

<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 - Technical termi

Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: 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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