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UniProtKB - Q9NVI1 (FANCI_HUMAN)

Entry version 152 (16 Oct 2019)
Sequence version 4 (04 Nov 2008)
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Protein

Fanconi anemia group I protein

Gene

FANCI

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

Plays an essential role in the repair of DNA double-strand breaks by homologous recombination and in the repair of interstrand DNA cross-links (ICLs) by promoting FANCD2 monoubiquitination by FANCL and participating in recruitment to DNA repair sites. Required for maintenance of chromosomal stability. Specifically binds branched DNA: binds both single-stranded DNA (ssDNA) and double-stranded DNA (dsDNA). Participates in S phase and G2 phase checkpoint activation upon DNA damage.4 Publications

<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 functionDNA-binding
Biological processCell cycle, DNA damage, DNA repair

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-6783310 Fanconi Anemia Pathway
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9NVI1

<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:
Fanconi anemia group I protein
Short name:
Protein FACI
<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:FANCI
Synonyms:KIAA1794
<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 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_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 15

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:25568 FANCI

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		611360 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9NVI1

<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

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

<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

Fanconi anemia complementation group I (FANCI)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.
Related information in OMIM
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_03268955P → L in FANCI; unknown pathological significance; no effect on ubiquitination and DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs62020347EnsemblClinVar.1
Natural variantiVAR_032691858H → Y in FANCI. 1 Publication1
Natural variantiVAR_0326921285R → Q in FANCI; abolishes function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs121918163EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'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>Mutagenesisi523K → R: Abolishes monoubiquitination by FANCL and UBE2T. 1 Publication1

Keywords - Diseasei

Disease mutation, Fanconi anemia

Organism-specific databases

DisGeNET

More...DisGeNETi		55215

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

More...GeneReviewsi		FANCI

MalaCards human disease database

More...MalaCardsi		FANCI
MIMi609053 phenotype

Open Targets

More...OpenTargetsi		ENSG00000140525

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

More...Orphaneti		84 Fanconi anemia

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA162387928

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9NVI1

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		FANCI

Domain mapping of disease mutations (DMDM)

More...DMDMi		212276518

<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_00002483761 – 1328Fanconi anemia group I proteinAdd BLAST1328

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei407PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>Cross-linki523Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)3 Publications
Modified residuei556PhosphoserineBy similarity1
Modified residuei730Phosphoserine1 Publication1
Modified residuei952Phosphothreonine1 Publication1
Modified residuei1121Phosphoserine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Monoubiquitinated by FANCL on Lys-523 during S phase and upon genotoxic stress. Deubiquitinated by USP1 as cells enter G2/M, or once DNA repair is completed. Monoubiquitination requires the FANCA-FANCB-FANCC-FANCE-FANCF-FANCG-FANCM complex. Ubiquitination is required for binding to chromatin, DNA repair, and normal cell cycle progression. Monoubiquitination is stimulated by DNA-binding.3 Publications
Phosphorylated in response to DNA damage by ATM and/or ATR.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-3283

Encyclopedia of Proteome Dynamics

More...EPDi		Q9NVI1

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9NVI1

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9NVI1

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

More...PaxDbi		Q9NVI1

PeptideAtlas

More...PeptideAtlasi		Q9NVI1

PRoteomics IDEntifications database

More...PRIDEi		Q9NVI1

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		82811 [Q9NVI1-3]
82812 [Q9NVI1-1]
82813 [Q9NVI1-2]
82814 [Q9NVI1-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9NVI1

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

More...PhosphoSitePlusi		Q9NVI1

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9NVI1

<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		ENSG00000140525 Expressed in 168 organ(s), highest expression level in testis

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9NVI1 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9NVI1 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		HPA039972
HPA040379

<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">'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_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Interacts with FANCD2; the interaction is direct.

Interacts with FANCL.

Interacts with MTMR15/FAN1 (PubMed:17412408, PubMed:17460694, PubMed:20603015, PubMed:21775430).

Interacts with POLN (PubMed:19995904).

5 Publications

<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
FANCD2Q9BXW92EBI-1013291,EBI-359343

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...BioGridi		120511, 96 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9NVI1

Database of interacting proteins

More...DIPi		DIP-29381N

Protein interaction database and analysis system

More...IntActi		Q9NVI1, 53 interactors

Molecular INTeraction database

More...MINTi		Q9NVI1

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000310842

<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

3D structure databases

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

More...SMRi		Q9NVI1

Database of comparative protein structure models

More...ModBasei		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

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminal 30 residues are probably required for function in DNA repair.

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG4553 Eukaryota
ENOG410XSU9 LUCA

Ensembl GeneTree

More...GeneTreei		ENSGT00390000005855

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9NVI1

KEGG Orthology (KO)

More...KOi		K10895

Identification of Orthologs from Complete Genome Data

More...OMAi		KAMFARQ

Database of Orthologous Groups

More...OrthoDBi		169407at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9NVI1

TreeFam database of animal gene trees

More...TreeFami		TF323694

Family and domain databases

Conserved Domains Database

More...CDDi		cd11720 FANCI, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR026171 FANCI
IPR029310 FANCI_HD1
IPR029312 FANCI_HD2
IPR029308 FANCI_S1
IPR029305 FANCI_S1-cap
IPR029315 FANCI_S2
IPR029313 FANCI_S3
IPR029314 FANCI_S4

The PANTHER Classification System

More...PANTHERi		PTHR21818 PTHR21818, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF14679 FANCI_HD1, 1 hit
PF14680 FANCI_HD2, 1 hit
PF14675 FANCI_S1, 1 hit
PF14674 FANCI_S1-cap, 1 hit
PF14676 FANCI_S2, 1 hit
PF14677 FANCI_S3, 1 hit
PF14678 FANCI_S4, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (4+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 4 <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 4 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 3 (identifier: Q9NVI1-3) [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
MDQKILSLAA EKTADKLQEF LQTLREGDLT NLLQNQAVKG KVAGALLRAI 
        60         70         80         90        100
FKGSPCSEEA GTLRRRKIYT CCIQLVESGD LQKEIASEII GLLMLEAHHF 
       110        120        130        140        150
PGPLLVELAN EFISAVREGS LVNGKSLELL PIILTALATK KENLAYGKGV 
       160        170        180        190        200
LSGEECKKQL INTLCSGRWD QQYVIQLTSM FKDVPLTAEE VEFVVEKALS 
       210        220        230        240        250
MFSKMNLQEI PPLVYQLLVL SSKGSRKSVL EGIIAFFSAL DKQHNEEQSG 
       260        270        280        290        300
DELLDVVTVP SGELRHVEGT IILHIVFAIK LDYELGRELV KHLKVGQQGD 
       310        320        330        340        350
SNNNLSPFSI ALLLSVTRIQ RFQDQVLDLL KTSVVKSFKD LQLLQGSKFL 
       360        370        380        390        400
QNLVPHRSYV STMILEVVKN SVHSWDHVTQ GLVELGFILM DSYGPKKVLD 
       410        420        430        440        450
GKTIETSPSL SRMPNQHACK LGANILLETF KIHEMIRQEI LEQVLNRVVT 
       460        470        480        490        500
RASSPISHFL DLLSNIVMYA PLVLQSCSSK VTEAFDYLSF LPLQTVQRLL 
       510        520        530        540        550
KAVQPLLKVS MSMRDCLILV LRKAMFANQL DARKSAVAGF LLLLKNFKVL 
       560        570        580        590        600
GSLSSSQCSQ SLSVSQVHVD VHSHYNSVAN ETFCLEIMDS LRRCLSQQAD 
       610        620        630        640        650
VRLMLYEGFY DVLRRNSQLA NSVMQTLLSQ LKQFYEPKPD LLPPLKLEAC 
       660        670        680        690        700
ILTQGDKISL QEPLDYLLCC IQHCLAWYKN TVIPLQQGEE EEEEEEAFYE 
       710        720        730        740        750
DLDDILESIT NRMIKSELED FELDKSADFS QSTSIGIKNN ICAFLVMGVC 
       760        770        780        790        800
EVLIEYNFSI SSFSKNRFED ILSLFMCYKK LSDILNEKAG KAKTKMANKT 
       810        820        830        840        850
SDSLLSMKFV SSLLTALFRD SIQSHQESLS VLRSSNEFMR YAVNVALQKV 
       860        870        880        890        900
QQLKETGHVS GPDGQNPEKI FQNLCDITRV LLWRYTSIPT SVEESGKKEK 
       910        920        930        940        950
GKSISLLCLE GLQKIFSAVQ QFYQPKIQQF LRALDVTDKE GEEREDADVS 
       960        970        980        990       1000
VTQRTAFQIR QFQRSLLNLL SSQEEDFNSK EALLLVTVLT SLSKLLEPSS 
      1010       1020       1030       1040       1050
PQFVQMLSWT SKICKENSRE DALFCKSLMN LLFSLHVSYK SPVILLRDLS 
      1060       1070       1080       1090       1100
QDIHGHLGDI DQDVEVEKTN HFAIVNLRTA APTVCLLVLS QAEKVLEEVD 
      1110       1120       1130       1140       1150
WLITKLKGQV SQETLSEEAS SQATLPNQPV EKAIIMQLGT LLTFFHELVQ 
      1160       1170       1180       1190       1200
TALPSGSCVD TLLKDLCKMY TTLTALVRYY LQVCQSSGGI PKNMEKLVKL 
      1210       1220       1230       1240       1250
SGSHLTPLCY SFISYVQNKS KSLNYTGEKK EKPAAVATAM ARVLRETKPI 
      1260       1270       1280       1290       1300
PNLIFAIEQY EKFLIHLSKK SKVNLMQHMK LSTSRDFKIK GNILDMVLRE 
      1310       1320 
DGEDENEEGT ASEHGGQNKE PAKKKRKK
Length:1,328
Mass (Da):149,324
Last modified:November 4, 2008 - v4
<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:i07E80FD2F0BCCB32
GO
Isoform 2 (identifier: Q9NVI1-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     819-878: Missing.
     1117-1117: Missing.

Show »
Length:1,267
Mass (Da):142,440
Checksum:iAD13BB6692A0D812
GO
Isoform 1 (identifier: Q9NVI1-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     819-878: Missing.

Show »
Length:1,268
Mass (Da):142,569
Checksum:i7D3A1A04E97FE80C
GO
Isoform 4 (identifier: Q9NVI1-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     253-1328: Missing.

Show »
Length:252
Mass (Da):27,824
Checksum:i8C0E5CC711546A8B
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 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BP78H3BP78_HUMAN
Fanconi anemia group I protein
FANCI
1,090Annotation 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>
H3BMG4H3BMG4_HUMAN
Fanconi anemia group I protein
FANCI
226Annotation 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>
H3BT54H3BT54_HUMAN
Fanconi anemia group I protein
FANCI
215Annotation 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>
H3BN35H3BN35_HUMAN
Fanconi anemia group I protein
FANCI
145Annotation 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>
H3BQE2H3BQE2_HUMAN
Fanconi anemia group I protein
FANCI
157Annotation 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>
F8W7R3F8W7R3_HUMAN
Fanconi anemia group I protein
FANCI
1,095Annotation 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>
H3BS60H3BS60_HUMAN
Fanconi anemia group I protein
FANCI
125Annotation 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 AAH04277 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAA91770 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAB55200 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti528N → S in BAB47423 (PubMed:11347906).Curated1
Sequence conflicti604M → T in BAA91770 (PubMed:14702039).Curated1
Sequence conflicti877I → L in BAB47423 (PubMed:11347906).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03268955P → L in FANCI; unknown pathological significance; no effect on ubiquitination and DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs62020347EnsemblClinVar.1
Natural variantiVAR_03269086A → V1 PublicationCorresponds to variant dbSNP:rs17803620EnsemblClinVar.1
Natural variantiVAR_027278686Q → K. Corresponds to variant dbSNP:rs28378332EnsemblClinVar.1
Natural variantiVAR_027279742C → S2 PublicationsCorresponds to variant dbSNP:rs2283432EnsemblClinVar.1
Natural variantiVAR_032691858H → Y in FANCI. 1 Publication1
Natural variantiVAR_0326921285R → Q in FANCI; abolishes function in DNA repair. 2 PublicationsCorresponds to variant dbSNP:rs121918163EnsemblClinVar.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_035606253 – 1328Missing in isoform 4. 1 PublicationAdd BLAST1076
Alternative sequenceiVSP_026069819 – 878Missing in isoform 1 and isoform 2. 1 PublicationAdd BLAST60
Alternative sequenceiVSP_0202571117Missing in isoform 2. 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
EF469766 mRNA Translation: ABP88002.1
EF567077 mRNA Translation: ABQ63084.1
AC124068 Genomic DNA No translation available.
BC004277 mRNA Translation: AAH04277.1 Different initiation.
BC140769 mRNA Translation: AAI40770.1
AK001581 mRNA Translation: BAA91770.1 Different initiation.
AK027564 mRNA Translation: BAB55200.1 Different initiation.
AB058697 mRNA Translation: BAB47423.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10349.2 [Q9NVI1-1]
CCDS45346.1 [Q9NVI1-3]

NCBI Reference Sequences

More...RefSeqi		NP_001106849.1, NM_001113378.1 [Q9NVI1-3]
NP_060663.2, NM_018193.2 [Q9NVI1-1]
XP_011520058.1, XM_011521756.2 [Q9NVI1-3]
XP_011520059.1, XM_011521757.2 [Q9NVI1-3]
XP_011520066.1, XM_011521764.2 [Q9NVI1-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000300027; ENSP00000300027; ENSG00000140525 [Q9NVI1-1]
ENST00000310775; ENSP00000310842; ENSG00000140525 [Q9NVI1-3]
ENST00000567996; ENSP00000458024; ENSG00000140525 [Q9NVI1-4]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		55215

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:55215

UCSC genome browser

More...UCSCi		uc002bnm.2 human [Q9NVI1-3]

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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Fanconi Anemia Mutation Database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EF469766 mRNA Translation: ABP88002.1
EF567077 mRNA Translation: ABQ63084.1
AC124068 Genomic DNA No translation available.
BC004277 mRNA Translation: AAH04277.1 Different initiation.
BC140769 mRNA Translation: AAI40770.1
AK001581 mRNA Translation: BAA91770.1 Different initiation.
AK027564 mRNA Translation: BAB55200.1 Different initiation.
AB058697 mRNA Translation: BAB47423.1
CCDSiCCDS10349.2 [Q9NVI1-1]
CCDS45346.1 [Q9NVI1-3]
RefSeqiNP_001106849.1, NM_001113378.1 [Q9NVI1-3]
NP_060663.2, NM_018193.2 [Q9NVI1-1]
XP_011520058.1, XM_011521756.2 [Q9NVI1-3]
XP_011520059.1, XM_011521757.2 [Q9NVI1-3]
XP_011520066.1, XM_011521764.2 [Q9NVI1-1]

3D structure databases

SMRiQ9NVI1
ModBaseiSearch...

Protein-protein interaction databases

BioGridi120511, 96 interactors
CORUMiQ9NVI1
DIPiDIP-29381N
IntActiQ9NVI1, 53 interactors
MINTiQ9NVI1
STRINGi9606.ENSP00000310842

PTM databases

iPTMnetiQ9NVI1
PhosphoSitePlusiQ9NVI1
SwissPalmiQ9NVI1

Polymorphism and mutation databases

BioMutaiFANCI
DMDMi212276518

Proteomic databases

CPTACiCPTAC-3283
EPDiQ9NVI1
jPOSTiQ9NVI1
MassIVEiQ9NVI1
PaxDbiQ9NVI1
PeptideAtlasiQ9NVI1
PRIDEiQ9NVI1
ProteomicsDBi82811 [Q9NVI1-3]
82812 [Q9NVI1-1]
82813 [Q9NVI1-2]
82814 [Q9NVI1-4]

Protocols and materials databases

The DNASU plasmid repository

More...DNASUi		55215

Genome annotation databases

EnsembliENST00000300027; ENSP00000300027; ENSG00000140525 [Q9NVI1-1]
ENST00000310775; ENSP00000310842; ENSG00000140525 [Q9NVI1-3]
ENST00000567996; ENSP00000458024; ENSG00000140525 [Q9NVI1-4]
GeneIDi55215
KEGGihsa:55215
UCSCiuc002bnm.2 human [Q9NVI1-3]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		55215
DisGeNETi55215

GeneCards: human genes, protein and diseases

More...GeneCardsi		FANCI
GeneReviewsiFANCI
HGNCiHGNC:25568 FANCI
HPAiHPA039972
HPA040379
MalaCardsiFANCI
MIMi609053 phenotype
611360 gene
neXtProtiNX_Q9NVI1
OpenTargetsiENSG00000140525
Orphaneti84 Fanconi anemia
PharmGKBiPA162387928

Human Unidentified Gene-Encoded large proteins database

More...HUGEi		Search...

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG4553 Eukaryota
ENOG410XSU9 LUCA
GeneTreeiENSGT00390000005855
InParanoidiQ9NVI1
KOiK10895
OMAiKAMFARQ
OrthoDBi169407at2759
PhylomeDBiQ9NVI1
TreeFamiTF323694

Enzyme and pathway databases

ReactomeiR-HSA-6783310 Fanconi Anemia Pathway
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
SIGNORiQ9NVI1

Miscellaneous databases

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

More...ChiTaRSi		FANCI human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		FANCI

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

More...GenomeRNAii		55215
PharosiQ9NVI1

Protein Ontology

More...PROi		PR:Q9NVI1

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000140525 Expressed in 168 organ(s), highest expression level in testis
ExpressionAtlasiQ9NVI1 baseline and differential
GenevisibleiQ9NVI1 HS

Family and domain databases

CDDicd11720 FANCI, 1 hit
InterProiView protein in InterPro
IPR026171 FANCI
IPR029310 FANCI_HD1
IPR029312 FANCI_HD2
IPR029308 FANCI_S1
IPR029305 FANCI_S1-cap
IPR029315 FANCI_S2
IPR029313 FANCI_S3
IPR029314 FANCI_S4
PANTHERiPTHR21818 PTHR21818, 1 hit
PfamiView protein in Pfam
PF14679 FANCI_HD1, 1 hit
PF14680 FANCI_HD2, 1 hit
PF14675 FANCI_S1, 1 hit
PF14674 FANCI_S1-cap, 1 hit
PF14676 FANCI_S2, 1 hit
PF14677 FANCI_S3, 1 hit
PF14678 FANCI_S4, 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 nameiFANCI_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: Q9NVI1
Secondary accession number(s): A4ZVE4
, A5YMH4, A6NJZ0, Q96JN1, Q96ST0, Q9BT96
<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: September 5, 2006
Last sequence update: November 4, 2008
Last modified: October 16, 2019
This is version 152 of the entry and version 4 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, Direct protein sequencing, Reference proteome

Documents

  1. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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