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UniProtKB - Q96LT7 (CI072_HUMAN)

Entry version 140 (17 Jun 2020)
Sequence version 2 (19 Jul 2005)
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Protein

Guanine nucleotide exchange C9orf72

Gene

C9orf72

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

Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy (PubMed:27193190, PubMed:27103069, PubMed:27617292, PubMed:28195531). In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation (PubMed:27103069). The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ATG1/ULK1 kinase complex and modulating its protein kinase activity (PubMed:27617292). Positively regulates initiation of autophagy by regulating the RAB1A-dependent trafficking of the ATG1/ULK1 kinase complex to the phagophore which leads to autophagosome formation (PubMed:27334615). Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates (PubMed:27559131). Plays a role in endosomal trafficking (PubMed:24549040). May be involved in regulating the maturation of phagosomes to lysosomes (By similarity). Regulates actin dynamics in motor neurons by inhibiting the GTP-binding activity of ARF6, leading to ARF6 inactivation (PubMed:27723745). This reduces the activity of the LIMK1 and LIMK2 kinases which are responsible for phosphorylation and inactivation of cofilin, leading to cofilin activation (PubMed:27723745). Positively regulates axon extension and axon growth cone size in spinal motor neurons (PubMed:27723745). Plays a role within the hematopoietic system in restricting inflammation and the development of autoimmunity (By similarity).By similarity8 Publications
Regulates stress granule assembly in response to cellular stress.1 Publication
Does not play a role in regulation of stress granule assembly in response to cellular stress.1 Publication

<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

Molecular functionGuanine-nucleotide releasing factor
Biological processAutophagy

<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:
Guanine nucleotide exchange C9orf72Curated
<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:C9orf72Imported
<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

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000147894.14

Human Gene Nomenclature Database

More...HGNCi		HGNC:28337 C9orf72

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		614260 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96LT7

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoplasmic vesicle, Endosome, Lysosome, Membrane, Nucleus, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry. In the first intron of the gene, the expansion of a GGGGCC hexanucleotide that can vary from 10 to thousands of repeats, represents the most common genetic cause of both familial and sporadic FTDALS. The hexanucleotide repeat expansion (HRE) is structurally polymorphic and during transcription, is responsible for the formation of RNA and DNA G-quadruplexes resulting in the production of aborted transcripts at the expense of functional transcripts. The accumulation of those aborted transcripts may cause nucleolar stress and indirectly cell death (PubMed:24598541). The expanded GGGGCC repeats are bidirectionally transcribed into repetitive RNA, which forms sense and antisense RNA foci. Remarkably, despite being within a non-coding region, these repetitive RNAs can be translated in every reading frame to form five different dipeptide repeat proteins (DPRs) -- poly-GA, poly-GP, poly-GR, poly-PA and poly-PR -- via a non-canonical mechanism known as repeat-associated non-ATG (RAN) translation. These dipeptide repeat proteins (DPRs) co-aggregate in the characteristic SQSTM1-positive TARDBP negative inclusions found in FTLD/ALS patients with C9orf72 repeat expansion (PubMed:24132570).2 Publications
Disease descriptionAn autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis.
Related information in OMIM

Keywords - Diseasei

Amyotrophic lateral sclerosis, Neurodegeneration

Organism-specific databases

DisGeNET

More...DisGeNETi		203228

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		C9orf72

MalaCards human disease database

More...MalaCardsi		C9orf72
MIMi105550 phenotype

Open Targets

More...OpenTargetsi		ENSG00000147894

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

More...Orphaneti		803 Amyotrophic lateral sclerosis
275864 Behavioral variant of frontotemporal dementia
275872 Frontotemporal dementia with motor neuron disease
401901 Huntington disease-like syndrome due to C9ORF72 expansions
100070 Progressive non-fluent aphasia
100069 Semantic dementia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA134908144

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96LT7 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		C9orf72

Domain mapping of disease mutations (DMDM)

More...DMDMi		71152412

<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_00000897111 – 481Guanine nucleotide exchange C9orf72Add BLAST481

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96LT7

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q96LT7

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96LT7

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96LT7

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

More...PaxDbi		Q96LT7

PeptideAtlas

More...PeptideAtlasi		Q96LT7

PRoteomics IDEntifications database

More...PRIDEi		Q96LT7

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		77248 [Q96LT7-1]
77249 [Q96LT7-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96LT7

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

More...PhosphoSitePlusi		Q96LT7

<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

Both isoforms are widely expressed, including kidney, lung, liver, heart, testis and several brain regions, such as cerebellum. Also expressed in the frontal cortex and in lymphoblasts (at protein level).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000147894 Expressed in right lung and 195 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96LT7 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96LT7 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000147894 Low tissue specificity

<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 SMCR8; the interaction is direct (PubMed:27559131, PubMed:27617292).

Component of the C9orf72-SMCR8 complex, at least composed of C9orf72, SMCR8 and WDR41 (PubMed:27193190, PubMed:27103069, PubMed:27559131, PubMed:27617292, PubMed:28195531). The C9orf72-SMCR8 complex associates with the ATG1/ULK1 kinase complex (PubMed:27617292, PubMed:28195531).

Interacts with ATG1/ULK1 kinase complex members ULK1, ATG13 and RB1CC1 (PubMed:27334615).

Interacts with HNRNPA1, HNRNPA2B1 and UBQLN2 (PubMed:24549040).

Interacts with small Rab GTPase RAB1A; the interaction mediates recruitment of RAB1A to the ATG1/ULK1 kinase complex (PubMed:27334615).

Also interacts with small Rab GTPase RAB7A (By similarity).

Interacts with cofilin (PubMed:27723745).

Interacts with GTP-binding proteins ARF1 and ARF6 (By similarity).

By similarity8 Publications

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

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		128456, 80 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-3961 C9orf72-SMCR8 complex [Q96LT7-1]

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q96LT7

Protein interaction database and analysis system

More...IntActi		Q96LT7, 60 interactors

Molecular INTeraction database

More...MINTi		Q96LT7

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000482753

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96LT7 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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini23 – 194uDENN C9ORF72-typePROSITE-ProRule annotationAdd BLAST172
Domaini200 – 343cDENN C9ORF72-typePROSITE-ProRule annotationAdd BLAST144
Domaini370 – 464dDENN C9ORF72-typePROSITE-ProRule annotationAdd BLAST95

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG410IEBT Eukaryota
ENOG41117RW LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000005644

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_047573_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96LT7

KEGG Orthology (KO)

More...KOi		K23609

Identification of Orthologs from Complete Genome Data

More...OMAi		KTHSVPE

Database of Orthologous Groups

More...OrthoDBi		1434762at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96LT7

TreeFam database of animal gene trees

More...TreeFami		TF313315

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR027819 C9orf72

The PANTHER Classification System

More...PANTHERi		PTHR31855 PTHR31855, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF15019 C9orf72-like, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51835 DENN_C9ORF72, 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 (2+)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 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. 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 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96LT7-1) [UniParc]FASTAAdd to basket
Also known as: C9-L1 Publication, C9(LF)1 Publication

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
MSTLCPPPSP AVAKTEIALS GKSPLLAATF AYWDNILGPR VRHIWAPKTE 
        60         70         80         90        100
QVLLSDGEIT FLANHTLNGE ILRNAESGAI DVKFFVLSEK GVIIVSLIFD 
       110        120        130        140        150
GNWNGDRSTY GLSIILPQTE LSFYLPLHRV CVDRLTHIIR KGRIWMHKER 
       160        170        180        190        200
QENVQKIILE GTERMEDQGQ SIIPMLTGEV IPVMELLSSM KSHSVPEEID 
       210        220        230        240        250
IADTVLNDDD IGDSCHEGFL LNAISSHLQT CGCSVVVGSS AEKVNKIVRT 
       260        270        280        290        300
LCLFLTPAER KCSRLCEAES SFKYESGLFV QGLLKDSTGS FVLPFRQVMY 
       310        320        330        340        350
APYPTTHIDV DVNTVKQMPP CHEHIYNQRR YMRSELTAFW RATSEEDMAQ 
       360        370        380        390        400
DTIIYTDESF TPDLNIFQDV LHRDTLVKAF LDQVFQLKPG LSLRSTFLAQ 
       410        420        430        440        450
FLLVLHRKAL TLIKYIEDDT QKGKKPFKSL RNLKIDLDLT AEGDLNIIMA 
       460        470        480 
LAEKIKPGLH SFIFGRPFYT SVQERDVLMT F
Note: Encoded by 2 transcripts differing in the 5' non-coding region.
Length:481
Mass (Da):54,328
Last modified:July 19, 2005 - v2
<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:iB36C5576B3D268CE
GO
Isoform 2 (identifier: Q96LT7-2) [UniParc]FASTAAdd to basket
Also known as: C9-S1 Publication, C9(SF)1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     222-222: N → K
     223-481: Missing.

Show »
Length:222
Mass (Da):24,759
Checksum:i068FE35DB48FE903
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A2R8Y5K2A0A2R8Y5K2_HUMAN
Guanine nucleotide exchange C9orf72
C9orf72
492Annotation 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>
A0A2R8Y5U5A0A2R8Y5U5_HUMAN
Guanine nucleotide exchange C9orf72
C9orf72
373Annotation 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>
A0A5F9ZHW7A0A5F9ZHW7_HUMAN
Guanine nucleotide exchange C9orf72
C9orf72
431Annotation 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>

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_050827207N → S. Corresponds to variant dbSNP:rs17769294EnsemblClinVar.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_014745222N → K in isoform 2. 1 Publication1
Alternative sequenceiVSP_014746223 – 481Missing in isoform 2. 1 PublicationAdd BLAST259

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
JN681271 mRNA Translation: AET41697.1
AK057806 mRNA Translation: BAB71583.1
AK291425 mRNA Translation: BAF84114.1
AL451123 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58561.1
CH471071 Genomic DNA Translation: EAW58558.1
CH471071 Genomic DNA Translation: EAW58560.1
BC068445 mRNA Translation: AAH68445.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS6522.1 [Q96LT7-1]
CCDS6523.1 [Q96LT7-2]

NCBI Reference Sequences

More...RefSeqi		NP_001242983.1, NM_001256054.2 [Q96LT7-1]
NP_060795.1, NM_018325.4 [Q96LT7-1]
NP_659442.2, NM_145005.6 [Q96LT7-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000379995; ENSP00000369331; ENSG00000147894 [Q96LT7-2]
ENST00000379997; ENSP00000369333; ENSG00000147894 [Q96LT7-2]
ENST00000380003; ENSP00000369339; ENSG00000147894 [Q96LT7-1]
ENST00000619707; ENSP00000482753; ENSG00000147894 [Q96LT7-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		203228

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:203228

UCSC genome browser

More...UCSCi		uc003zqq.4 human [Q96LT7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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
JN681271 mRNA Translation: AET41697.1
AK057806 mRNA Translation: BAB71583.1
AK291425 mRNA Translation: BAF84114.1
AL451123 Genomic DNA No translation available.
CH471071 Genomic DNA Translation: EAW58561.1
CH471071 Genomic DNA Translation: EAW58558.1
CH471071 Genomic DNA Translation: EAW58560.1
BC068445 mRNA Translation: AAH68445.1
CCDSiCCDS6522.1 [Q96LT7-1]
CCDS6523.1 [Q96LT7-2]
RefSeqiNP_001242983.1, NM_001256054.2 [Q96LT7-1]
NP_060795.1, NM_018325.4 [Q96LT7-1]
NP_659442.2, NM_145005.6 [Q96LT7-2]

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

BioGRIDi128456, 80 interactors
ComplexPortaliCPX-3961 C9orf72-SMCR8 complex [Q96LT7-1]
CORUMiQ96LT7
IntActiQ96LT7, 60 interactors
MINTiQ96LT7
STRINGi9606.ENSP00000482753

PTM databases

iPTMnetiQ96LT7
PhosphoSitePlusiQ96LT7

Polymorphism and mutation databases

BioMutaiC9orf72
DMDMi71152412

Proteomic databases

EPDiQ96LT7
jPOSTiQ96LT7
MassIVEiQ96LT7
MaxQBiQ96LT7
PaxDbiQ96LT7
PeptideAtlasiQ96LT7
PRIDEiQ96LT7
ProteomicsDBi77248 [Q96LT7-1]
77249 [Q96LT7-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		10609 221 antibodies

The DNASU plasmid repository

More...DNASUi		203228

Genome annotation databases

EnsembliENST00000379995; ENSP00000369331; ENSG00000147894 [Q96LT7-2]
ENST00000379997; ENSP00000369333; ENSG00000147894 [Q96LT7-2]
ENST00000380003; ENSP00000369339; ENSG00000147894 [Q96LT7-1]
ENST00000619707; ENSP00000482753; ENSG00000147894 [Q96LT7-1]
GeneIDi203228
KEGGihsa:203228
UCSCiuc003zqq.4 human [Q96LT7-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		203228
DisGeNETi203228
EuPathDBiHostDB:ENSG00000147894.14

GeneCards: human genes, protein and diseases

More...GeneCardsi		C9orf72
GeneReviewsiC9orf72
HGNCiHGNC:28337 C9orf72
HPAiENSG00000147894 Low tissue specificity
MalaCardsiC9orf72
MIMi105550 phenotype
614260 gene
neXtProtiNX_Q96LT7
OpenTargetsiENSG00000147894
Orphaneti803 Amyotrophic lateral sclerosis
275864 Behavioral variant of frontotemporal dementia
275872 Frontotemporal dementia with motor neuron disease
401901 Huntington disease-like syndrome due to C9ORF72 expansions
100070 Progressive non-fluent aphasia
100069 Semantic dementia
PharmGKBiPA134908144

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG410IEBT Eukaryota
ENOG41117RW LUCA
GeneTreeiENSGT00390000005644
HOGENOMiCLU_047573_0_0_1
InParanoidiQ96LT7
KOiK23609
OMAiKTHSVPE
OrthoDBi1434762at2759
PhylomeDBiQ96LT7
TreeFamiTF313315

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		203228 2 hits in 789 CRISPR screens

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

More...ChiTaRSi		C9orf72 human

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

More...GenomeRNAii		203228
PharosiQ96LT7 Tbio

Protein Ontology

More...PROi		PR:Q96LT7
RNActiQ96LT7 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000147894 Expressed in right lung and 195 other tissues
ExpressionAtlasiQ96LT7 baseline and differential
GenevisibleiQ96LT7 HS

Family and domain databases

InterProiView protein in InterPro
IPR027819 C9orf72
PANTHERiPTHR31855 PTHR31855, 1 hit
PfamiView protein in Pfam
PF15019 C9orf72-like, 1 hit
PROSITEiView protein in PROSITE
PS51835 DENN_C9ORF72, 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 nameiCI072_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: Q96LT7
Secondary accession number(s): A8K5W0
, D3DRK6, G8I0B6, Q6NUS9
<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: July 19, 2005
Last modified: June 17, 2020
This is version 140 of the entry and version 2 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 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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