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Entry version 98 (31 Jul 2019)
Sequence version 1 (12 Apr 2005)
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Protein

UPF0691 protein C9orf116

Gene

C9orf116

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 - Biological processi

<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:
UPF0691 protein C9orf116
Alternative name(s):
p53-induced expression in RB-null cells protein 1
Short name:
Pierce1
<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
<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 9

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:28435 C9orf116

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
614502 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q5BN46

<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

Open Targets

More...
OpenTargetsi
ENSG00000160345

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134878696

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C9orf116

<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_00000897281 – 136UPF0691 protein C9orf116Add BLAST136

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q5BN46

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

More...
PaxDbi
Q5BN46

PeptideAtlas

More...
PeptideAtlasi
Q5BN46

PRoteomics IDEntifications database

More...
PRIDEi
Q5BN46

ProteomicsDB human proteome resource

More...
ProteomicsDBi
62718 [Q5BN46-1]
62719 [Q5BN46-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q5BN46

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

More...
PhosphoSitePlusi
Q5BN46

<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 the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified ‘at the protein level’.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stagei

May be up-regulated during progression from G1 to S phase of the cell cycle. Maximal expression in S or G2 phase.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000160345 Expressed in 116 organ(s), highest expression level in bronchial epithelial cell

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q5BN46 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q5BN46 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA021439
HPA065287

<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%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

WithEntry#Exp.IntActNotes
FHL3Q136433EBI-10243636,EBI-741101

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
126503, 2 interactors

Protein interaction database and analysis system

More...
IntActi
Q5BN46, 1 interactor

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000395281

<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 UPF0691 family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IX5S Eukaryota
ENOG4111ZK1 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000154745

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000111655

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q5BN46

Identification of Orthologs from Complete Genome Data

More...
OMAi
FHPSYNV

Database of Orthologous Groups

More...
OrthoDBi
1574929at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q5BN46

TreeFam database of animal gene trees

More...
TreeFami
TF323876

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR026507 UPF0691

The PANTHER Classification System

More...
PANTHERi
PTHR20899 PTHR20899, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14892 DUF4490, 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 (2+)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 2 <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 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q5BN46-1) [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
MAEECPRACA EPVAPKATAP PERTSDYYRV SADLPGRFNN PGWFRGYRTQ
60 70 80 90 100
KAVSVYRTSN QAYGSRAPTV HEMPKVFYPN SNKFSQQLAA GGMFRNNTLN
110 120 130
VYLEKSIVTG PDNCITSCDR LNFHPSYNIN RPSICD
Length:136
Mass (Da):15,260
Last modified:April 12, 2005 - 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:i40EF2889FC52E775
GO
Isoform 2 (identifier: Q5BN46-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     75-92: KVFYPNSNKFSQQLAAGG → RVECSGTILSMFTWRKAS
     93-136: Missing.

Show »
Length:92
Mass (Da):10,318
Checksum:iCC7E80830492B1AC
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
H0Y549H0Y549_HUMAN
UPF0691 protein C9orf116
C9orf116
70Annotation 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>

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_01446675 – 92KVFYP…LAAGG → RVECSGTILSMFTWRKAS in isoform 2. 1 PublicationAdd BLAST18
Alternative sequenceiVSP_01446793 – 136Missing in isoform 2. 1 PublicationAdd BLAST44

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
AY927868 mRNA Translation: AAX22217.1
AL161452 Genomic DNA No translation available.
BC021261 mRNA Translation: AAH21261.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS43899.1 [Q5BN46-1]
CCDS6989.1 [Q5BN46-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001041730.1, NM_001048265.1 [Q5BN46-1]
NP_653255.1, NM_144654.2 [Q5BN46-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000371789; ENSP00000360854; ENSG00000160345 [Q5BN46-2]
ENST00000371791; ENSP00000360856; ENSG00000160345 [Q5BN46-2]
ENST00000429260; ENSP00000395281; ENSG00000160345 [Q5BN46-1]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
138162

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:138162

UCSC genome browser

More...
UCSCi
uc004cfs.2 human [Q5BN46-1]

<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 - 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
AY927868 mRNA Translation: AAX22217.1
AL161452 Genomic DNA No translation available.
BC021261 mRNA Translation: AAH21261.1
CCDSiCCDS43899.1 [Q5BN46-1]
CCDS6989.1 [Q5BN46-2]
RefSeqiNP_001041730.1, NM_001048265.1 [Q5BN46-1]
NP_653255.1, NM_144654.2 [Q5BN46-2]

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

BioGridi126503, 2 interactors
IntActiQ5BN46, 1 interactor
STRINGi9606.ENSP00000395281

PTM databases

iPTMnetiQ5BN46
PhosphoSitePlusiQ5BN46

Polymorphism and mutation databases

BioMutaiC9orf116

Proteomic databases

jPOSTiQ5BN46
PaxDbiQ5BN46
PeptideAtlasiQ5BN46
PRIDEiQ5BN46
ProteomicsDBi62718 [Q5BN46-1]
62719 [Q5BN46-2]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
138162
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371789; ENSP00000360854; ENSG00000160345 [Q5BN46-2]
ENST00000371791; ENSP00000360856; ENSG00000160345 [Q5BN46-2]
ENST00000429260; ENSP00000395281; ENSG00000160345 [Q5BN46-1]
GeneIDi138162
KEGGihsa:138162
UCSCiuc004cfs.2 human [Q5BN46-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
138162

GeneCards: human genes, protein and diseases

More...
GeneCardsi
C9orf116
HGNCiHGNC:28435 C9orf116
HPAiHPA021439
HPA065287
MIMi614502 gene
neXtProtiNX_Q5BN46
OpenTargetsiENSG00000160345
PharmGKBiPA134878696

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IX5S Eukaryota
ENOG4111ZK1 LUCA
GeneTreeiENSGT00940000154745
HOGENOMiHOG000111655
InParanoidiQ5BN46
OMAiFHPSYNV
OrthoDBi1574929at2759
PhylomeDBiQ5BN46
TreeFamiTF323876

Miscellaneous databases

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

More...
GenomeRNAii
138162

Protein Ontology

More...
PROi
PR:Q5BN46

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000160345 Expressed in 116 organ(s), highest expression level in bronchial epithelial cell
ExpressionAtlasiQ5BN46 baseline and differential
GenevisibleiQ5BN46 HS

Family and domain databases

InterProiView protein in InterPro
IPR026507 UPF0691
PANTHERiPTHR20899 PTHR20899, 1 hit
PfamiView protein in Pfam
PF14892 DUF4490, 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 nameiCI116_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: Q5BN46
Secondary accession number(s): Q5T897, Q8WU44
<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: July 5, 2005
Last sequence update: April 12, 2005
Last modified: July 31, 2019
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

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries
  4. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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