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Q8K368

- FANCI_MOUSE

UniProt

Q8K368 - FANCI_MOUSE

Protein

Fanconi anemia group I protein homolog

Gene

Fanci

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 77 (01 Oct 2014)
      Sequence version 2 (12 Jun 2007)
      Previous versions | rss
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    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.

    GO - Biological processi

    1. cell cycle Source: UniProtKB-KW
    2. DNA repair Source: UniProtKB-KW
    3. positive regulation of protein ubiquitination Source: Ensembl

    Keywords - Biological processi

    Cell cycle, DNA damage, DNA repair

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Fanconi anemia group I protein homolog
    Short name:
    Protein FACI
    Gene namesi
    Name:Fanci
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 7

    Organism-specific databases

    MGIiMGI:2384790. Fanci.

    Subcellular locationi

    Nucleus By similarity
    Note: Observed in spots localized in pairs on the sister chromatids of mitotic chromosome arms and not centromeres, one on each chromatids. These foci coincide with common fragile sites. They are frequently interlinked through BLM-associated ultra-fine DNA bridges By similarity.By similarity

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell
    2. plasma membrane Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 13301330Fanconi anemia group I protein homologPRO_0000289977Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Cross-linki522 – 522Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)By similarity
    Modified residuei555 – 5551Phosphoserine1 Publication
    Modified residuei558 – 5581Phosphothreonine1 Publication
    Modified residuei729 – 7291PhosphoserineBy similarity
    Modified residuei948 – 9481PhosphothreonineBy similarity
    Modified residuei1122 – 11221PhosphoserineBy similarity

    Post-translational modificationi

    Monoubiquitinated by FANCL on Lys-522 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 By similarity.By similarity
    Phosphorylated in response to DNA damage by ATM and/or ATR.1 Publication

    Keywords - PTMi

    Isopeptide bond, Phosphoprotein, Ubl conjugation

    Proteomic databases

    PaxDbiQ8K368.
    PRIDEiQ8K368.

    PTM databases

    PhosphoSiteiQ8K368.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8K368.
    BgeeiQ8K368.
    CleanExiMM_FANCI.
    GenevestigatoriQ8K368.

    Interactioni

    Subunit structurei

    Interacts with FANCD2; the interaction is direct. Interacts with FANCL. Interacts with MTMR15/FAN1 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi229017. 2 interactions.
    STRINGi10090.ENSMUSP00000044931.

    Structurei

    Secondary structure

    1
    1330
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi2 – 1110
    Helixi15 – 2410
    Helixi29 – 3810
    Helixi40 – 445
    Helixi46 – 516
    Beta strandi56 – 583
    Helixi59 – 7820
    Helixi83 – 9614
    Helixi97 – 993
    Helixi102 – 11716
    Turni125 – 1284
    Helixi129 – 13810
    Beta strandi145 – 1484
    Helixi153 – 16614
    Turni171 – 1733
    Helixi174 – 1807
    Helixi181 – 1833
    Helixi188 – 20215
    Helixi207 – 2093
    Helixi210 – 22112
    Helixi226 – 24823
    Helixi261 – 28121
    Helixi283 – 29311
    Helixi299 – 3046
    Helixi307 – 31610
    Helixi320 – 3223
    Helixi323 – 34422
    Helixi348 – 3536
    Helixi360 – 37011
    Turni371 – 3744
    Helixi377 – 39317
    Turni397 – 3993
    Helixi413 – 43220
    Helixi434 – 4363
    Helixi437 – 45014
    Helixi457 – 46913
    Helixi471 – 4744
    Helixi478 – 4814
    Helixi482 – 4865
    Turni487 – 4893
    Helixi492 – 50615
    Helixi510 – 52314
    Helixi529 – 54517
    Helixi546 – 5494
    Helixi555 – 5595
    Turni560 – 5623
    Beta strandi566 – 5705
    Beta strandi572 – 5743
    Helixi582 – 59110
    Helixi592 – 5954
    Helixi598 – 61417
    Helixi616 – 6183
    Helixi619 – 63315
    Beta strandi641 – 6444
    Helixi647 – 6493
    Beta strandi650 – 6534
    Beta strandi656 – 6594
    Helixi663 – 67917
    Helixi693 – 71220
    Turni718 – 7214
    Helixi733 – 75927
    Helixi764 – 78320
    Helixi806 – 81611
    Beta strandi821 – 8233
    Helixi825 – 8328
    Helixi836 – 85419
    Helixi866 – 88419
    Helixi903 – 92018
    Helixi923 – 9253
    Helixi926 – 9327
    Turni940 – 9445
    Helixi946 – 96722
    Helixi976 – 98813
    Helixi998 – 101114
    Helixi1018 – 103215
    Turni1033 – 10353
    Helixi1039 – 105315
    Beta strandi1056 – 10583
    Helixi1073 – 10764
    Turni1077 – 10793
    Helixi1080 – 110324
    Helixi1128 – 115124
    Turni1156 – 11583
    Helixi1159 – 118426
    Turni1185 – 11884
    Helixi1193 – 11997
    Helixi1202 – 12054
    Helixi1207 – 122115
    Helixi1249 – 126921
    Beta strandi1270 – 12723
    Helixi1274 – 12785
    Beta strandi1281 – 12844
    Helixi1292 – 12976

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    3S4WX-ray3.41A1-1302[»]
    3S4ZX-ray7.80A/B/C1-1302[»]
    3S51X-ray3.30A/B/C/D1-1302[»]
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domaini

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

    Phylogenomic databases

    eggNOGiNOG324185.
    GeneTreeiENSGT00390000005855.
    HOGENOMiHOG000112497.
    HOVERGENiHBG106622.
    InParanoidiQ8K368.
    KOiK10895.
    OMAiSQEEDFN.
    PhylomeDBiQ8K368.
    TreeFamiTF323694.

    Family and domain databases

    InterProiIPR026171. FANCI.
    IPR029310. FANCI_HD1.
    IPR029312. FANCI_HD2.
    IPR029308. FANCI_S1.
    IPR029305. FANCI_S1-cap.
    IPR029315. FANCI_S2.
    IPR029313. FANCI_S3.
    IPR029314. FANCI_S4.
    [Graphical view]
    PANTHERiPTHR21818:SF0. PTHR21818:SF0. 1 hit.
    PfamiPF14679. 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.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8K368-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' 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

    MDLKILSLAT DKTTDKLQEF LQTLKDDDLA SLLQNQAVKG RAVGTLLRAV     50
    LKGSPCSEED GALRRYKIYS CCIQLVESGD LQQDVASEII GLLMLEVHHF 100
    PGPLLVDLAS DFVGAVREDR LVNGKSLELL PIILTALATK KEVLACGKGD 150
    LNGEEYKRQL IDTLCSVRWP QRYMIQLTSV FKDVCLTPEE MNLVVAKVLT 200
    MFSKLNLQEI PPLVYQLLVL SSKGSRRSVL DGIIAFFREL DKQHREEQSS 250
    DELSELITAP ADELYHVEGT VILHIVFAIK LDCELGRELL KHLKAGQQGD 300
    PSKCLCPFSI ALLLSLTRIQ RFEEQVFDLL KTSVVKSFKD LQLLQGSKFL 350
    QTLVPQRTCV STMILEVVRN SVHSWDHVTQ GLIEFGFILM DSYGPKKILD 400
    GKAVEIGTSL SKMTNQHACK LGANILLETF KIHEMIRQEI LEQVLNRVVT 450
    RTSSPINHFL DLFSDIIMYA PLILQNCSKV TETFDYLTFL PLQTVQGLLK 500
    AVQPLLKISM SMRDSLILVL RKAMFASQLD ARKSAVAGFL LLLKNFKVLG 550
    SLPSSQCTQS IGVTQVRVDV HSRYSAVANE TFCLEIIDSL KRSLGQQADI 600
    RLMLYDGFYD VLRRNSQLAS SIMQTLFSQL KQFYEPEPDL LPPLKLGACV 650
    LTQGSQIFLQ EPLDHLLSCI QHCLAWYKSR VVPLQQGDEG EEEEEELYSE 700
    LDDMLESITV RMIKSELEDF ELDKSADFSQ NTNVGIKNNI CACLIMGVCE 750
    VLMEYNFSIS NFSKSKFEEI LSLFTCYKKF SDILSEKAGK GKAKMTSKVS 800
    DSLLSLKFVS DLLTALFRDS IQSHEESLSV LRSSGEFMHY AVNVTLQKIQ 850
    QLIRTGHVSG PDGQNPDKIF QNLCDITRVL LWRYTSIPTS VEESGKKEKG 900
    KSISLLCLEG LQKTFSVVLQ FYQPKVQQFL QALDVMGTEE EEAGVTVTQR 950
    ASFQIRQFQR SLLNLLSSEE DDFNSKEALL LIAVLSTLSR LLEPTSPQFV 1000
    QMLSWTSKIC KEYSQEDASF CKSLMNLFFS LHVLYKSPVT LLRDLSQDIH 1050
    GQLGDIDQDV EIEKTDHFAV VNLRTAAPTV CLLVLSQAEK VLEEVDWLIA 1100
    KIKGSANQET LSDKVTPEDA SSQAVPPTLL IEKAIVMQLG TLVTFFHELV 1150
    QTALPSGSCV DTLLKGLSKI YSTLTAFVKY YLQVCQSSRG IPNTVEKLVK 1200
    LSGSHLTPVC YSFISYVQNK SSDAPKCSEK EKAAVSTTMA KVLRETKPIP 1250
    NLVFAIEQYE KFLIQLSKKS KVNLMQHMKL STSRDFKIKG SVLDMVLRED 1300
    EEDENEEGTA SAHTQQDREP AKKRRKKCLS 1330
    Length:1,330
    Mass (Da):149,326
    Last modified:June 12, 2007 - v2
    Checksum:i68A0580B54E20CBB
    GO
    Isoform 2 (identifier: Q8K368-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         371-394: SVHSWDHVTQGLIEFGFILMDSYG → RLVFRYHHVCTFNSSELFKSHGNF
         395-1330: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.

    Show »
    Length:394
    Mass (Da):44,333
    Checksum:i71530D576E81F23B
    GO
    Isoform 4 (identifier: Q8K368-4) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         879-1330: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:878
    Mass (Da):98,663
    Checksum:iBC9A79AED797F624
    GO

    Sequence cautioni

    The sequence BAC39475.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti540 – 5401L → W in BAC39475. (PubMed:16141072)Curated

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei371 – 39424SVHSW…MDSYG → RLVFRYHHVCTFNSSELFKS HGNF in isoform 2. 1 PublicationVSP_026072Add
    BLAST
    Alternative sequencei395 – 1330936Missing in isoform 2. 1 PublicationVSP_026073Add
    BLAST
    Alternative sequencei879 – 1330452Missing in isoform 4. 1 PublicationVSP_026074Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC110909 Genomic DNA. No translation available.
    BC027836 mRNA. No translation available.
    AK085572 mRNA. Translation: BAC39475.1. Different initiation.
    CCDSiCCDS39991.1. [Q8K368-1]
    RefSeqiNP_666058.2. NM_145946.2. [Q8K368-1]
    UniGeneiMm.349493.

    Genome annotation databases

    EnsembliENSMUST00000036865; ENSMUSP00000044931; ENSMUSG00000039187. [Q8K368-1]
    ENSMUST00000132091; ENSMUSP00000122113; ENSMUSG00000039187. [Q8K368-2]
    GeneIDi208836.
    KEGGimmu:208836.
    UCSCiuc009hyh.1. mouse. [Q8K368-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC110909 Genomic DNA. No translation available.
    BC027836 mRNA. No translation available.
    AK085572 mRNA. Translation: BAC39475.1 . Different initiation.
    CCDSi CCDS39991.1. [Q8K368-1 ]
    RefSeqi NP_666058.2. NM_145946.2. [Q8K368-1 ]
    UniGenei Mm.349493.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    3S4W X-ray 3.41 A 1-1302 [» ]
    3S4Z X-ray 7.80 A/B/C 1-1302 [» ]
    3S51 X-ray 3.30 A/B/C/D 1-1302 [» ]
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 229017. 2 interactions.
    STRINGi 10090.ENSMUSP00000044931.

    PTM databases

    PhosphoSitei Q8K368.

    Proteomic databases

    PaxDbi Q8K368.
    PRIDEi Q8K368.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000036865 ; ENSMUSP00000044931 ; ENSMUSG00000039187 . [Q8K368-1 ]
    ENSMUST00000132091 ; ENSMUSP00000122113 ; ENSMUSG00000039187 . [Q8K368-2 ]
    GeneIDi 208836.
    KEGGi mmu:208836.
    UCSCi uc009hyh.1. mouse. [Q8K368-1 ]

    Organism-specific databases

    CTDi 55215.
    MGIi MGI:2384790. Fanci.

    Phylogenomic databases

    eggNOGi NOG324185.
    GeneTreei ENSGT00390000005855.
    HOGENOMi HOG000112497.
    HOVERGENi HBG106622.
    InParanoidi Q8K368.
    KOi K10895.
    OMAi SQEEDFN.
    PhylomeDBi Q8K368.
    TreeFami TF323694.

    Miscellaneous databases

    NextBioi 372429.
    PROi Q8K368.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8K368.
    Bgeei Q8K368.
    CleanExi MM_FANCI.
    Genevestigatori Q8K368.

    Family and domain databases

    InterProi IPR026171. FANCI.
    IPR029310. FANCI_HD1.
    IPR029312. FANCI_HD2.
    IPR029308. FANCI_S1.
    IPR029305. FANCI_S1-cap.
    IPR029315. FANCI_S2.
    IPR029313. FANCI_S3.
    IPR029314. FANCI_S4.
    [Graphical view ]
    PANTHERi PTHR21818:SF0. PTHR21818:SF0. 1 hit.
    Pfami 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.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
      Strain: C57BL/6J.
    2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Strain: FVB/N.
      Tissue: Mammary tumor.
    3. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 27-1330 (ISOFORM 4).
      Strain: C57BL/6J.
      Tissue: Kidney.
    4. "Identification of the FANCI protein, a monoubiquitinated FANCD2 paralog required for DNA repair."
      Smogorzewska A., Matsuoka S., Vinciguerra P., McDonald E.R. III, Hurov K.E., Luo J., Ballif B.A., Gygi S.P., Hofmann K., D'Andrea A.D., Elledge S.J.
      Cell 129:289-301(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT SER-555 AND THR-558.
    5. Cited for: IDENTIFICATION.

    Entry informationi

    Entry nameiFANCI_MOUSE
    AccessioniPrimary (citable) accession number: Q8K368
    Secondary accession number(s): Q8BUE9, Q8R3G8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 12, 2007
    Last sequence update: June 12, 2007
    Last modified: October 1, 2014
    This is version 77 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references

    External Data

    Dasty 3