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Entry version 120 (16 Oct 2019)
Sequence version 1 (01 Jun 2002)
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Protein

Uncharacterized protein C9orf43

Gene

C9orf43

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 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 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:
Uncharacterized protein C9orf43
<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:C9orf43
<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

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HGNCi
HGNC:23570 C9orf43

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8TAL5

<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
ENSG00000157653

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134972642

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8TAL5

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
C9orf43

Domain mapping of disease mutations (DMDM)

More...
DMDMi
71152406

<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_00000896921 – 461Uncharacterized protein C9orf43Add BLAST461

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8TAL5

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8TAL5

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q8TAL5

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

More...
PaxDbi
Q8TAL5

PeptideAtlas

More...
PeptideAtlasi
Q8TAL5

PRoteomics IDEntifications database

More...
PRIDEi
Q8TAL5

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
73890

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8TAL5

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

More...
PhosphoSitePlusi
Q8TAL5

<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
ENSG00000157653 Expressed in 81 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8TAL5 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8TAL5 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA021310

<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
RABGAP1LQ5R372-23EBI-10694291,EBI-10692254

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
129203, 6 interactors

Protein interaction database and analysis system

More...
IntActi
Q8TAL5, 6 interactors

Molecular INTeraction database

More...
MINTi
Q8TAL5

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000288462

<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

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi293 – 304Gln-richAdd BLAST12

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IKP4 Eukaryota
ENOG41115SE LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000013600

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000111639

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8TAL5

Identification of Orthologs from Complete Genome Data

More...
OMAi
VLWIPEE

Database of Orthologous Groups

More...
OrthoDBi
1091069at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8TAL5

TreeFam database of animal gene trees

More...
TreeFami
TF337505

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR029134 DUF4647

The PANTHER Classification System

More...
PANTHERi
PTHR36130 PTHR36130, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF15504 DUF4647, 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>Sequencei

<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.

Q8TAL5-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MDLPDESQWD ETTCGLAVCQ HPQCWATIRR IERGHPRILG SSCKTPLDAE
60 70 80 90 100
DKLPVLTVVD ILDSGFAAHH LPECTFTKAH SLLSQSSKFY SKFHGRPPKG
110 120 130 140 150
LPDKSLINCT NRLPKFPVLN LNETQLPCPE DVRNMVVLWI PEETEIHVSQ
160 170 180 190 200
HGKKKRKNSA VKSKSFLGLS GNQSAGTRVG TPGMIVPPPT PVQLSEQFSS
210 220 230 240 250
DFLPLWAQSE ALPQDLLKEL LPGGKQTMLC PEMKIKLAMM KKNLPLEKNR
260 270 280 290 300
PDSVISSKMF LSIHRLTLER PALRYPERLK KLHNLKTEGY RKQQQRQQQQ
310 320 330 340 350
QQQQKKVKTP IKKQEAKKKA KSDPGIQSTS HKHPVTTVHD RLYGYRTLPG
360 370 380 390 400
QNSDMKQQQQ MEKGTTSKQD STERPKMNYY DHADFHHSVK SPELYETEPT
410 420 430 440 450
NKDISAPVDA VPEAQAARQK KISFNFSEIM ASTGWNSELK LLRILQDTDD
460
EDEEDQSSGA E
Length:461
Mass (Da):52,222
Last modified:June 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:i5091BF1A9AFAD68E
GO

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_061597252D → G. Corresponds to variant dbSNP:rs41313331Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AL137066 Genomic DNA No translation available.
BC026884 mRNA Translation: AAH26884.1
BC033037 mRNA Translation: AAH33037.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS6796.1

NCBI Reference Sequences

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RefSeqi
NP_001265558.1, NM_001278629.1
NP_689999.1, NM_152786.2

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000288462; ENSP00000288462; ENSG00000157653
ENST00000374165; ENSP00000363280; ENSG00000157653

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
257169

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:257169

UCSC genome browser

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UCSCi
uc004bho.6 human

<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

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
AL137066 Genomic DNA No translation available.
BC026884 mRNA Translation: AAH26884.1
BC033037 mRNA Translation: AAH33037.1
CCDSiCCDS6796.1
RefSeqiNP_001265558.1, NM_001278629.1
NP_689999.1, NM_152786.2

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

BioGridi129203, 6 interactors
IntActiQ8TAL5, 6 interactors
MINTiQ8TAL5
STRINGi9606.ENSP00000288462

PTM databases

iPTMnetiQ8TAL5
PhosphoSitePlusiQ8TAL5

Polymorphism and mutation databases

BioMutaiC9orf43
DMDMi71152406

Proteomic databases

EPDiQ8TAL5
jPOSTiQ8TAL5
MassIVEiQ8TAL5
PaxDbiQ8TAL5
PeptideAtlasiQ8TAL5
PRIDEiQ8TAL5
ProteomicsDBi73890

Genome annotation databases

EnsembliENST00000288462; ENSP00000288462; ENSG00000157653
ENST00000374165; ENSP00000363280; ENSG00000157653
GeneIDi257169
KEGGihsa:257169
UCSCiuc004bho.6 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
257169

GeneCards: human genes, protein and diseases

More...
GeneCardsi
C9orf43
HGNCiHGNC:23570 C9orf43
HPAiHPA021310
neXtProtiNX_Q8TAL5
OpenTargetsiENSG00000157653
PharmGKBiPA134972642

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IKP4 Eukaryota
ENOG41115SE LUCA
GeneTreeiENSGT00390000013600
HOGENOMiHOG000111639
InParanoidiQ8TAL5
OMAiVLWIPEE
OrthoDBi1091069at2759
PhylomeDBiQ8TAL5
TreeFamiTF337505

Miscellaneous databases

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

More...
ChiTaRSi
C9orf43 human

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

More...
GenomeRNAii
257169
PharosiQ8TAL5

Protein Ontology

More...
PROi
PR:Q8TAL5

Gene expression databases

BgeeiENSG00000157653 Expressed in 81 organ(s), highest expression level in testis
ExpressionAtlasiQ8TAL5 baseline and differential
GenevisibleiQ8TAL5 HS

Family and domain databases

InterProiView protein in InterPro
IPR029134 DUF4647
PANTHERiPTHR36130 PTHR36130, 1 hit
PfamiView protein in Pfam
PF15504 DUF4647, 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 nameiCI043_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: Q8TAL5
<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 19, 2005
Last sequence update: June 1, 2002
Last modified: October 16, 2019
This is version 120 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. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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