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UniProtKB - Q0D2I5 (IFFO1_HUMAN)

Entry version 117 (02 Jun 2021)
Sequence version 2 (22 Sep 2009)
Previous versions | rss
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Protein

Non-homologous end joining factor IFFO1

Gene

IFFO1

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

Nuclear matrix protein involved in the immobilization of broken DNA ends and the suppression of chromosome translocation during DNA double-strand breaks (DSBs) (PubMed:31548606).

Interacts with the nuclear lamina component LMNA, resulting in the formation of a nucleoskeleton that relocalizes to the DSB sites in a XRCC4-dependent manner and promotes the immobilization of the broken ends, thereby preventing chromosome translocation (PubMed:31548606).

Acts as a scaffold that allows the DNA repair protein XRCC4 and LMNA to assemble into a complex at the DSB sites (PubMed:31548606).

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 - Biological processi

Complete GO annotation on QuickGO ...

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q0D2I5

<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:
Non-homologous end joining factor IFFO11 Publication
Short name:
NHEJ factor IFFO11 Publication
Alternative name(s):
Intermediate filament family orphan 11 Publication
Tumor antigen HOM-TES-1031 Publication
<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:IFFO1Imported
Synonyms:IFFO
<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 12

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:24970, IFFO1

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		610495, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q0D2I5

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000010295.19

<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

<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 - Cellular componenti

Intermediate filament, Membrane, Nucleus

<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

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi65A → P or V: Does not affect the interaction with LMNA. 1 Publication1
Mutagenesisi73N → D: Decreased interaction with LMNA. Loss of ability to immobilize broken ends; when associated with H-85. 1 Publication1
Mutagenesisi73N → K: Does not affect the interaction with LMNA. 1 Publication1
Mutagenesisi85R → H: Decreased interaction with LMNA. 1 Publication1
Mutagenesisi89A → T or V: Does not affect the interaction with LMNA. 1 Publication1
Mutagenesisi480I → R: Loss of interaction with XRCC4; when associated with R-487. 1 Publication1
Mutagenesisi487A → R: Loss of interaction with XRCC4; when associated with R-480. 1 Publication1
Mutagenesisi490D → A: Decreased interaction with XRCC4; when associated with A-516. Loss of interaction with XRCC4; when associated with A-509 and A-516. 1 Publication1
Mutagenesisi509D → A: Loss of interaction with XRCC4; when associated with A-490 and A-516. 1 Publication1
Mutagenesisi512M → R: Loss of interaction with XRCC4. 1 Publication1
Mutagenesisi515C → R: Loss of interaction with XRCC4, loss of localization at the sites of DNA damages and loss of ability to immobilize broken ends. 1 Publication1
Mutagenesisi516R → A: Decreased interaction with XRCC4; when associated with A-490. Loss of interaction with XRCC4; when associated with A-490 and A-509. 1 Publication1

Organism-specific databases

DisGeNET

More...DisGeNETi		25900

Open Targets

More...OpenTargetsi		ENSG00000010295

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA164720809

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q0D2I5, Tdark

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		IFFO1

Domain mapping of disease mutations (DMDM)

More...DMDMi		259016254

<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_00003167941 – 559Non-homologous end joining factor IFFO1Add BLAST559

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q0D2I5

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

More...PaxDbi		Q0D2I5

PeptideAtlas

More...PeptideAtlasi		Q0D2I5

PRoteomics IDEntifications database

More...PRIDEi		Q0D2I5

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		58734 [Q0D2I5-1]
58735 [Q0D2I5-2]
58736 [Q0D2I5-3]
58737 [Q0D2I5-4]
58738 [Q0D2I5-5]
58739 [Q0D2I5-6]
58740 [Q0D2I5-7]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q0D2I5

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

More...PhosphoSitePlusi		Q0D2I5

<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

Ubiquitously expressed.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000010295, Expressed in tendon and 231 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q0D2I5, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q0D2I5, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000010295, 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

Forms a heterotetramer with XRCC4 (PubMed:31548606). The interaction with XRCC4 is direct, involves LIG4-free XRCC4 and leads to relocalization of IFFO1 at the double-strand break (DSB) sites (PubMed:31548606).

Interacts with LMNA; the interaction forms an interior nucleoskeleton and the recruitment to DNA double-strand breaks (PubMed:31548606).

1 Publication

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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		117407, 33 interactors

Protein interaction database and analysis system

More...IntActi		Q0D2I5, 23 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000482285

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q0D2I5, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1559
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q0D2I5

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<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>Domaini73 – 526IF rodPROSITE-ProRule annotationAdd BLAST454

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni21 – 57DisorderedSequence analysisAdd BLAST37
Regioni65 – 116LMNA binding1 PublicationAdd BLAST52
Regioni158 – 187DisorderedSequence analysisAdd BLAST30
Regioni360 – 394DisorderedSequence analysisAdd BLAST35
Regioni450 – 525XCCR4 binding. Required for localization to the double-strand breaks (DSBs)1 PublicationAdd BLAST76
Regioni520 – 559DisorderedSequence analysisAdd BLAST40

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and domains' section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili85 – 117Sequence analysisAdd BLAST33
Coiled coili237 – 301Sequence analysisAdd BLAST65
Coiled coili455 – 501Sequence analysisAdd BLAST47

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 type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi41 – 57Pro residuesSequence analysisAdd BLAST17
Compositional biasi169 – 187Polar residuesSequence analysisAdd BLAST19
Compositional biasi362 – 392Basic and acidic residuesSequence analysisAdd BLAST31
Compositional biasi543 – 559Basic and acidic residuesSequence analysisAdd BLAST17

<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 intermediate filament family.PROSITE-ProRule annotation

Keywords - Domaini

Coiled coil

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502QRD7, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00510000046803

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_085236_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q0D2I5

Identification of Orthologs from Complete Genome Data

More...OMAi		FCNINAG

Database of Orthologous Groups

More...OrthoDBi		792412at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q0D2I5

TreeFam database of animal gene trees

More...TreeFami		TF331217

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.20.5.1160, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR039008, IF_rod_dom
IPR042180, IF_rod_dom_coil1B

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM01391, Filament, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS51842, IF_ROD_2, 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 (7+)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 7 <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 7 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q0D2I5-1) [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
MNPLFGPNLF LLQQEQQGLA GPLGDSLGGD HFAGGGDLPP APLSPAGPAA 
        60         70         80         90        100
YSPPGPGPAP PAAMALRNDL GSNINVLKTL NLRFRCFLAK VHELERRNRL 
       110        120        130        140        150
LEKQLQQALE EGKQGRRGLG RRDQAVQTGF VSPIRPLGLQ LGARPAAVCS 
       160        170        180        190        200
PSARVLGSPA RSPAGPLAPS AASLSSSSTS TSTTYSSSAR FMPGTIWSFS 
       210        220        230        240        250
HARRLGPGLE PTLVQGPGLS WVHPDGVGVQ IDTITPEIRA LYNVLAKVKR 
       260        270        280        290        300
ERDEYKRRWE EEYTVRIQLQ DRVNELQEEA QEADACQEEL ALKVEQLKAE 
       310        320        330        340        350
LVVFKGLMSN NLSELDTKIQ EKAMKVDMDI CRRIDITAKL CDVAQQRNCE 
       360        370        380        390        400
DMIQMFQVPS MGGRKRERKA AVEEDTSLSE SEGPRQPDGD EEESTALSIN 
       410        420        430        440        450
EEMQRMLNQL REYDFEDDCD SLTWEETEET LLLWEDFSGY AMAAAEAQGE 
       460        470        480        490        500
QEDSLEKVIK DTESLFKTRE KEYQETIDQI ELELATAKND MNRHLHEYME 
       510        520        530        540        550
MCSMKRGLDV QMETCRRLIT QSGDRKSPAF TAVPLSDPPP PPSEAEDSDR 

DVSSDSSMR
Length:559
Mass (Da):61,979
Last modified:September 22, 2009 - 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:i050FCFFB4953CBD8
GO
Isoform 2 (identifier: Q0D2I5-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-360: Missing.

Show »
Length:199
Mass (Da):22,790
Checksum:i85B455C4F759C047
GO
Isoform 3 (identifier: Q0D2I5-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     259-264: WEEEYT → CFYRVK
     265-559: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.Curated
Show »
Length:264
Mass (Da):28,128
Checksum:i5FC1FFA8036C1478
GO
Isoform 4 (identifier: Q0D2I5-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     357-357: Q → QKKL

Show »
Length:562
Mass (Da):62,348
Checksum:iA23759D144A4F602
GO
Isoform 5 (identifier: Q0D2I5-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     357-357: Q → QKKL
     451-451: Q → QQ

Show »
Length:563
Mass (Da):62,476
Checksum:iFD057A78376C2486
GO
Isoform 6 (identifier: Q0D2I5-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-360: Missing.
     451-451: Q → QQ

Show »
Length:200
Mass (Da):22,918
Checksum:i9652F97422DFD9B0
GO
Isoform 7 (identifier: Q0D2I5-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     357-357: Q → QKL
     451-451: Q → QQ

Show »
Length:562
Mass (Da):62,348
Checksum:i540FFA923014FCA3
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 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WZ16A0A087WZ16_HUMAN
Non-homologous end joining factor I...
IFFO1
571Annotation 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>
E9PPX7E9PPX7_HUMAN
Non-homologous end joining factor I...
IFFO1
255Annotation 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 AF124432 differs from that shown. Reason: Frameshift.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 conflicti152 – 153SA → LE in AF124432 (PubMed:12032826).Curated2
Sequence conflicti285A → V in AF124432 (PubMed:12032826).Curated1
Sequence conflicti358V → F in AAI10388 (PubMed:15489334).Curated1
Sequence conflicti387P → A in AF124432 (PubMed:12032826).Curated1
Sequence conflicti471K → M in AF124432 (PubMed:12032826).Curated1
Sequence conflicti474Q → H in AF124432 (PubMed:12032826).Curated1

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_0307811 – 360Missing in isoform 2 and isoform 6. 1 PublicationAdd BLAST360
Alternative sequenceiVSP_030782259 – 264WEEEYT → CFYRVK in isoform 3. 1 Publication6
Alternative sequenceiVSP_030783265 – 559Missing in isoform 3. 1 PublicationAdd BLAST295
Alternative sequenceiVSP_030784357Q → QKKL in isoform 4 and isoform 5. 2 Publications1
Alternative sequenceiVSP_039709357Q → QKL in isoform 7. 1 Publication1
Alternative sequenceiVSP_038240451Q → QQ in isoform 5, isoform 6 and isoform 7. 1 Publication1

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
CH471116 Genomic DNA Translation: EAW88781.1
CH471116 Genomic DNA Translation: EAW88783.1
BC002857 mRNA Translation: AAH02857.2
BC004384 mRNA Translation: AAH04384.2
BC010431 mRNA No translation available.
BC071170 mRNA Translation: AAH71170.1
BC103817 mRNA Translation: AAI03818.1
BC103818 mRNA Translation: AAI03819.1
BC110387 mRNA Translation: AAI10388.1
BC113848 mRNA Translation: AAI13849.1
BC114454 mRNA Translation: AAI14455.1
AF124432 mRNA No translation available.

The Consensus CDS (CCDS) project

More...CCDSi		CCDS41741.1 [Q0D2I5-5]
CCDS81655.1 [Q0D2I5-1]
CCDS8550.2 [Q0D2I5-4]

NCBI Reference Sequences

More...RefSeqi		NP_001034759.1, NM_001039670.2 [Q0D2I5-5]
NP_001317253.1, NM_001330324.1 [Q0D2I5-1]
NP_542768.2, NM_080730.4 [Q0D2I5-4]
XP_006719038.1, XM_006718975.3 [Q0D2I5-7]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000336604; ENSP00000337593; ENSG00000010295 [Q0D2I5-4]
ENST00000356896; ENSP00000349364; ENSG00000010295 [Q0D2I5-5]
ENST00000396840; ENSP00000380052; ENSG00000010295 [Q0D2I5-1]
ENST00000487279; ENSP00000432493; ENSG00000010295 [Q0D2I5-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		25900

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:25900

UCSC genome browser

More...UCSCi		uc001qpc.3, human [Q0D2I5-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
CH471116 Genomic DNA Translation: EAW88781.1
CH471116 Genomic DNA Translation: EAW88783.1
BC002857 mRNA Translation: AAH02857.2
BC004384 mRNA Translation: AAH04384.2
BC010431 mRNA No translation available.
BC071170 mRNA Translation: AAH71170.1
BC103817 mRNA Translation: AAI03818.1
BC103818 mRNA Translation: AAI03819.1
BC110387 mRNA Translation: AAI10388.1
BC113848 mRNA Translation: AAI13849.1
BC114454 mRNA Translation: AAI14455.1
AF124432 mRNA No translation available.
CCDSiCCDS41741.1 [Q0D2I5-5]
CCDS81655.1 [Q0D2I5-1]
CCDS8550.2 [Q0D2I5-4]
RefSeqiNP_001034759.1, NM_001039670.2 [Q0D2I5-5]
NP_001317253.1, NM_001330324.1 [Q0D2I5-1]
NP_542768.2, NM_080730.4 [Q0D2I5-4]
XP_006719038.1, XM_006718975.3 [Q0D2I5-7]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6ABOX-ray2.65B450-525[»]
SMRiQ0D2I5
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi117407, 33 interactors
IntActiQ0D2I5, 23 interactors
STRINGi9606.ENSP00000482285

PTM databases

iPTMnetiQ0D2I5
PhosphoSitePlusiQ0D2I5

Genetic variation databases

BioMutaiIFFO1
DMDMi259016254

Proteomic databases

MassIVEiQ0D2I5
PaxDbiQ0D2I5
PeptideAtlasiQ0D2I5
PRIDEiQ0D2I5
ProteomicsDBi58734 [Q0D2I5-1]
58735 [Q0D2I5-2]
58736 [Q0D2I5-3]
58737 [Q0D2I5-4]
58738 [Q0D2I5-5]
58739 [Q0D2I5-6]
58740 [Q0D2I5-7]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		22511, 61 antibodies

The DNASU plasmid repository

More...DNASUi		25900

Genome annotation databases

EnsembliENST00000336604; ENSP00000337593; ENSG00000010295 [Q0D2I5-4]
ENST00000356896; ENSP00000349364; ENSG00000010295 [Q0D2I5-5]
ENST00000396840; ENSP00000380052; ENSG00000010295 [Q0D2I5-1]
ENST00000487279; ENSP00000432493; ENSG00000010295 [Q0D2I5-3]
GeneIDi25900
KEGGihsa:25900
UCSCiuc001qpc.3, human [Q0D2I5-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		25900
DisGeNETi25900

GeneCards: human genes, protein and diseases

More...GeneCardsi		IFFO1
HGNCiHGNC:24970, IFFO1
HPAiENSG00000010295, Low tissue specificity
MIMi610495, gene
neXtProtiNX_Q0D2I5
OpenTargetsiENSG00000010295
PharmGKBiPA164720809
VEuPathDBiHostDB:ENSG00000010295.19

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QRD7, Eukaryota
GeneTreeiENSGT00510000046803
HOGENOMiCLU_085236_0_0_1
InParanoidiQ0D2I5
OMAiFCNINAG
OrthoDBi792412at2759
PhylomeDBiQ0D2I5
TreeFamiTF331217

Enzyme and pathway databases

PathwayCommonsiQ0D2I5

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		25900, 6 hits in 982 CRISPR screens

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

More...ChiTaRSi		IFFO1, human

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

More...GenomeRNAii		25900
PharosiQ0D2I5, Tdark

Protein Ontology

More...PROi		PR:Q0D2I5
RNActiQ0D2I5, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000010295, Expressed in tendon and 231 other tissues
ExpressionAtlasiQ0D2I5, baseline and differential
GenevisibleiQ0D2I5, HS

Family and domain databases

Gene3Di1.20.5.1160, 2 hits
InterProiView protein in InterPro
IPR039008, IF_rod_dom
IPR042180, IF_rod_dom_coil1B
SMARTiView protein in SMART
SM01391, Filament, 1 hit
PROSITEiView protein in PROSITE
PS51842, IF_ROD_2, 1 hit

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 nameiIFFO1_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: Q0D2I5
Secondary accession number(s): Q24JT6
, Q7L5J9, Q7Z5X4, Q9BQ46
<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: February 5, 2008
Last sequence update: September 22, 2009
Last modified: June 2, 2021
This is version 117 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families
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