LOCUS       NP_001106849            1328 aa            linear   PRI 29-APR-2025
DEFINITION  Fanconi anemia group I protein isoform 1 [Homo sapiens].
ACCESSION   NP_001106849
VERSION     NP_001106849.1
DBSOURCE    REFSEQ: accession NM_001113378.2
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1328)
  AUTHORS   Alcon,P., Kaczmarczyk,A.P., Ray,K.K., Liolios,T., Guilbaud,G.,
            Sijacki,T., Shen,Y., McLaughlin,S.H., Sale,J.E., Knipscheer,P.,
            Rueda,D.S. and Passmore,L.A.
  TITLE     FANCD2-FANCI surveys DNA and recognizes double- to single-stranded
            junctions
  JOURNAL   Nature 632 (8027), 1165-1173 (2024)
   PUBMED   39085614
  REMARK    GeneRIF: FANCD2-FANCI surveys DNA and recognizes double- to
            single-stranded junctions.
            Erratum:[Nature. 2025 Mar;639(8053):E2. doi:
            10.1038/s41586-025-08763-z. PMID: 39962266]
REFERENCE   2  (residues 1 to 1328)
  AUTHORS   Cao,L., He,X., Ren,J., Wen,C., Guo,T., Yang,F., Qin,Y., Chen,Z.J.,
            Zhao,S. and Yang,Y.
  TITLE     Novel compound heterozygous variants in FANCI cause premature
            ovarian insufficiency
  JOURNAL   Hum Genet 143 (3), 357-369 (2024)
   PUBMED   38483614
  REMARK    GeneRIF: Novel compound heterozygous variants in FANCI cause
            premature ovarian insufficiency.
REFERENCE   3  (residues 1 to 1328)
  AUTHORS   Cai,Z., Duan,Y., Li,W., Liu,Z., Gong,Z., Hong,S., He,X.,
            Xuanyuan,X., Chen,Y., Bi,X. and Wang,W.
  TITLE     FANCI serve as a prognostic biomarker correlated with immune
            infiltrates in skin cutaneous melanoma
  JOURNAL   Front Immunol 14, 1295831 (2023)
   PUBMED   38077326
  REMARK    GeneRIF: FANCI serve as a prognostic biomarker correlated with
            immune infiltrates in skin cutaneous melanoma.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 1328)
  AUTHORS   Hou,Y., Li,J., Yu,A., Deng,K., Chen,J., Wang,Z., Huang,L., Ma,S.
            and Dai,X.
  TITLE     FANCI is Associated with Poor Prognosis and Immune Infiltration in
            Liver Hepatocellular Carcinoma
  JOURNAL   Int J Med Sci 20 (7), 918-932 (2023)
   PUBMED   37324186
  REMARK    GeneRIF: FANCI is Associated with Poor Prognosis and Immune
            Infiltration in Liver Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 1328)
  AUTHORS   Fierheller,C.T., Alenezi,W.M., Serruya,C., Revil,T., Amuzu,S.,
            Bedard,K., Subramanian,D.N., Fewings,E., Bruce,J.P., Prokopec,S.,
            Bouchard,L., Provencher,D., Foulkes,W.D., El Haffaf,Z.,
            Mes-Masson,A.M., Tischkowitz,M., Campbell,I.G., Pugh,T.J.,
            Greenwood,C.M.T., Ragoussis,J. and Tonin,P.N.
  TITLE     Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian
            Cancer Predisposing Gene
  JOURNAL   Genes (Basel) 14 (2), 277 (2023)
   PUBMED   36833203
  REMARK    GeneRIF: Molecular Genetic Characteristics of FANCI, a Proposed New
            Ovarian Cancer Predisposing Gene.
            Publication Status: Online-Only
REFERENCE   6  (residues 1 to 1328)
  AUTHORS   Smogorzewska,A., Matsuoka,S., Vinciguerra,P., McDonald,E.R. 3rd,
            Hurov,K.E., Luo,J., Ballif,B.A., Gygi,S.P., Hofmann,K.,
            D'Andrea,A.D. and Elledge,S.J.
  TITLE     Identification of the FANCI protein, a monoubiquitinated FANCD2
            paralog required for DNA repair
  JOURNAL   Cell 129 (2), 289-301 (2007)
   PUBMED   17412408
  REMARK    GeneRIF: description of the Fanconi anemia protein FANCI,
            identified as an ATM/ATR kinase substrate required for resistance
            to mitomycin C; it associates with FANCD2 and, together, as the
            FANCI-FANCD2 (ID) complex, localizes to chromatin in response to
            DNA damage
REFERENCE   7  (residues 1 to 1328)
  AUTHORS   Beausoleil,S.A., Villen,J., Gerber,S.A., Rush,J. and Gygi,S.P.
  TITLE     A probability-based approach for high-throughput protein
            phosphorylation analysis and site localization
  JOURNAL   Nat Biotechnol 24 (10), 1285-1292 (2006)
   PUBMED   16964243
REFERENCE   8  (residues 1 to 1328)
  AUTHORS   Wang,X., Andreassen,P.R. and D'Andrea,A.D.
  TITLE     Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1
            in chromatin
  JOURNAL   Mol Cell Biol 24 (13), 5850-5862 (2004)
   PUBMED   15199141
REFERENCE   9  (residues 1 to 1328)
  AUTHORS   Levitus,M., Rooimans,M.A., Steltenpool,J., Cool,N.F., Oostra,A.B.,
            Mathew,C.G., Hoatlin,M.E., Waisfisz,Q., Arwert,F., de Winter,J.P.
            and Joenje,H.
  TITLE     Heterogeneity in Fanconi anemia: evidence for 2 new genetic
            subtypes
  JOURNAL   Blood 103 (7), 2498-2503 (2004)
   PUBMED   14630800
REFERENCE   10 (residues 1 to 1328)
  AUTHORS   Mehta,P.A. and Ebens,C.
  TITLE     Fanconi Anemia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301575
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BU187299.1, EF567077.1 and
            AC124068.6.
            
            Summary: The Fanconi anemia complementation group (FANC) currently
            includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2,
            FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM
            and FANCN (also called PALB2). The previously defined group FANCH
            is the same as FANCA. Fanconi anemia is a genetically heterogeneous
            recessive disorder characterized by cytogenetic instability,
            hypersensitivity to DNA crosslinking agents, increased chromosomal
            breakage, and defective DNA repair. The members of the Fanconi
            anemia complementation group do not share sequence similarity; they
            are related by their assembly into a common nuclear protein
            complex. This gene encodes the protein for complementation group I.
            Alternative splicing results in two transcript variants encoding
            different isoforms. [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC146804.1, SRR11853561.10563.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000310775.12/ ENSP00000310842.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1328
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.1"
     Protein         1..1328
                     /product="Fanconi anemia group I protein isoform 1"
                     /note="fanconi anemia group I protein; Fanconi anemia
                     complementation group I"
                     /calculated_mol_wt=149193
     Region          1..53
                     /region_name="FANCI_S1-cap"
                     /note="FANCI solenoid 1 cap; pfam14674"
                     /db_xref="CDD:434117"
     Region          43..1290
                     /region_name="FANCI"
                     /note="Fanconi anemia I protein; cd11720"
                     /db_xref="CDD:212594"
     Site            order(48,52,83..84,87,90..91,94..95,98,128,131,182..183,
                     215,219,273,277,280,376,442,446,449,480,483,486..487,490,
                     522..523,526,581..582,585..586,589..590,592..593,616,
                     618..622,625,628,678,689)
                     /site_type="other"
                     /note="heterodimer interface [polypeptide binding]"
                     /db_xref="CDD:212594"
     Site            order(287,291,294,331,336,339,980,1026,1078,1094,1107,
                     1164,1168,1178,1262,1269..1270)
                     /site_type="other"
                     /note="putative DNA binding site [nucleotide binding]"
                     /db_xref="CDD:212594"
     Site            407
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:16964243,
                     ECO:0007744|PubMed:18669648, ECO:0007744|PubMed:23186163;
                     propagated from UniProtKB/Swiss-Prot (Q9NVI1.4)"
     Site            556
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8K368; propagated from
                     UniProtKB/Swiss-Prot (Q9NVI1.4)"
     Site            730
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:17412408; propagated from
                     UniProtKB/Swiss-Prot (Q9NVI1.4)"
     Site            952
                     /site_type="phosphorylation"
                     /note="Phosphothreonine.
                     /evidence=ECO:0000269|PubMed:17412408; propagated from
                     UniProtKB/Swiss-Prot (Q9NVI1.4)"
     Site            1121
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000269|PubMed:17412408; propagated from
                     UniProtKB/Swiss-Prot (Q9NVI1.4)"
     Region          1300..1328
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9NVI1.4)"
     CDS             1..1328
                     /gene="FANCI"
                     /gene_synonym="KIAA1794"
                     /coded_by="NM_001113378.2:75..4061"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS45346.1"
                     /db_xref="GeneID:55215"
                     /db_xref="HGNC:HGNC:25568"
                     /db_xref="MIM:611360"
ORIGIN      
        1 mdqkilslaa ektadklqef lqtlregdlt nllqnqavkg kvagallrai fkgspcseea
       61 gtlrrrkiyt cciqlvesgd lqkeiaseii gllmleahhf pgpllvelan efisavregs
      121 lvngkslell piiltalatk kenlaygkgv lsgeeckkql intlcsgrwd qqyviqltsm
      181 fkdvpltaee vefvvekals mfskmnlqei pplvyqllvl sskgsrksvl egiiaffsal
      241 dkqhneeqsg delldvvtvp sgelrhvegt iilhivfaik ldyelgrelv khlkvgqqgd
      301 snnnlspfsi alllsvtriq rfqdqvldll ktsvvksfkd lqllqgskfl qnlvphrsyv
      361 stmilevvkn svhswdhvtq glvelgfilm dsygpkkvld gktietspsl srmpnqhack
      421 lganilletf kihemirqei leqvlnrvvt rasspishfl dllsnivmya plvlqscssk
      481 vteafdylsf lplqtvqrll kavqpllkvs msmrdclilv lrkamfanql darksavagf
      541 llllknfkvl gslsssqcsq slsvsqvhvd vhshynsvan etfcleimds lrrclsqqad
      601 vrlmlyegfy dvlrrnsqla nsvmqtllsq lkqfyepkpd llpplkleac iltqgdkisl
      661 qepldyllcc iqhclawykn tviplqqgee eeeeeeafye dlddilesit nrmikseled
      721 feldksadfs qstsigiknn icaflvmgvc evlieynfsi ssfsknrfed ilslfmcykk
      781 lsdilnekag kaktkmankt sdsllsmkfv sslltalfrd siqshqesls vlrssnefmr
      841 yavnvalqkv qqlketghvs gpdgqnpeki fqnlcditrv llwrytsipt sveesgkkek
      901 gksisllcle glqkifsavq qfyqpkiqqf lraldvtdke geeredadvs vtqrtafqir
      961 qfqrsllnll ssqeedfnsk ealllvtvlt slskllepss pqfvqmlswt skickensre
     1021 dalfckslmn llfslhvsyk spvillrdls qdihghlgdi dqdvevektn hfaivnlrta
     1081 aptvcllvls qaekvleevd wlitklkgqv sqetlseeas sqatlpnqpv ekaiimqlgt
     1141 lltffhelvq talpsgscvd tllkdlckmy ttltalvryy lqvcqssggi pknmeklvkl
     1201 sgshltplcy sfisyvqnks kslnytgekk ekpaavatam arvlretkpi pnlifaieqy
     1261 ekflihlskk skvnlmqhmk lstsrdfkik gnildmvlre dgedeneegt asehggqnke
     1321 pakkkrkk
//
