LOCUS       NP_055782               1017 aa            linear   PRI 28-APR-2025
DEFINITION  fanconi-associated nuclease 1 isoform a [Homo sapiens].
ACCESSION   NP_055782 XP_375181
VERSION     NP_055782.3
DBSOURCE    REFSEQ: accession NM_014967.5
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 1017)
  AUTHORS   Csaszar,I., Kalmar,T., Maroti,Z., Aved,J., Szederkenyi,E.,
            Zombori,J., Pankotai-Bodo,G., Turkevi-Nagy,S. and Ivanyi,B.
  TITLE     Phenotypic and Genotypic Features of the FAN1 Mutation-Related
            Disease in a Large Hungarian Family
  JOURNAL   Int J Mol Sci 25 (11), 5907 (2024)
   PUBMED   38892095
  REMARK    GeneRIF: Phenotypic and Genotypic Features of the FAN1
            Mutation-Related Disease in a Large Hungarian Family.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 1017)
  AUTHORS   Kim,K.H., Hong,E.P., Lee,Y., McLean,Z.L., Elezi,E., Lee,R.,
            Kwak,S., McAllister,B., Massey,T.H., Lobanov,S., Holmans,P.,
            Orth,M., Ciosi,M., Monckton,D.G., Long,J.D., Lucente,D.,
            Wheeler,V.C., MacDonald,M.E., Gusella,J.F. and Lee,J.M.
  TITLE     Posttranscriptional regulation of FAN1 by miR-124-3p at rs3512
            underlies onset-delaying genetic modification in Huntington's
            disease
  JOURNAL   Proc Natl Acad Sci U S A 121 (16), e2322924121 (2024)
   PUBMED   38607933
  REMARK    GeneRIF: Posttranscriptional regulation of FAN1 by miR-124-3p at
            rs3512 underlies onset-delaying genetic modification in
            Huntington's disease.
REFERENCE   3  (residues 1 to 1017)
  AUTHORS   Phadte,A.S., Bhatia,M., Ebert,H., Abdullah,H., Elrazaq,E.A.,
            Komolov,K.E. and Pluciennik,A.
  TITLE     FAN1 removes triplet repeat extrusions via a PCNA- and
            RFC-dependent mechanism
  JOURNAL   Proc Natl Acad Sci U S A 120 (33), e2302103120 (2023)
   PUBMED   37549289
  REMARK    GeneRIF: FAN1 removes triplet repeat extrusions via a PCNA- and
            RFC-dependent mechanism.
REFERENCE   4  (residues 1 to 1017)
  AUTHORS   Airik,M., Phua,Y.L., Huynh,A.B., McCourt,B.T., Rush,B.M., Tan,R.J.,
            Vockley,J., Murray,S.L., Dorman,A., Conlon,P.J. and Airik,R.
  TITLE     Persistent DNA damage underlies tubular cell polyploidization and
            progression to chronic kidney disease in kidneys deficient in the
            DNA repair protein FAN1
  JOURNAL   Kidney Int 102 (5), 1042-1056 (2022)
   PUBMED   35931300
  REMARK    GeneRIF: Persistent DNA damage underlies tubular cell
            polyploidization and progression to chronic kidney disease in
            kidneys deficient in the DNA repair protein FAN1.
REFERENCE   5  (residues 1 to 1017)
  AUTHORS   Liu,T., Ghosal,G., Yuan,J., Chen,J. and Huang,J.
  TITLE     FAN1 acts with FANCI-FANCD2 to promote DNA interstrand cross-link
            repair
  JOURNAL   Science 329 (5992), 693-696 (2010)
   PUBMED   20671156
  REMARK    GeneRIF: study characterizes FANI which promotes DNA interstrand
            cross-linking repair in a manner strictly dependent on its ability
            to accumulate at or near sites of DNA damage and that relies on
            mono-ubiquitylation of the FANCI-FANCD2 complex
REFERENCE   6  (residues 1 to 1017)
  AUTHORS   Smogorzewska,A., Desetty,R., Saito,T.T., Schlabach,M., Lach,F.P.,
            Sowa,M.E., Clark,A.B., Kunkel,T.A., Harper,J.W., Colaiacovo,M.P.
            and Elledge,S.J.
  TITLE     A genetic screen identifies FAN1, a Fanconi anemia-associated
            nuclease necessary for DNA interstrand crosslink repair
  JOURNAL   Mol Cell 39 (1), 36-47 (2010)
   PUBMED   20603073
  REMARK    GeneRIF: FAN1 colocalizes at sites of DNA damage with the ID
            complex in a manner dependent on FAN1's ubiquitin-binding domain
            (UBZ), the FANCI-FAND2 (ID) complex, and monoubiquitination of
            FANCD2.
REFERENCE   7  (residues 1 to 1017)
  AUTHORS   Kratz,K., Schopf,B., Kaden,S., Sendoel,A., Eberhard,R.,
            Lademann,C., Cannavo,E., Sartori,A.A., Hengartner,M.O. and
            Jiricny,J.
  TITLE     Deficiency of FANCD2-associated nuclease KIAA1018/FAN1 sensitizes
            cells to interstrand crosslinking agents
  JOURNAL   Cell 142 (1), 77-88 (2010)
   PUBMED   20603016
  REMARK    GeneRIF: KIAA1018 is a 5'-->3' exonuclease and a structure-specific
            endonuclease that preferentially incises 5' flaps; like cells from
            FA patients, human cells depleted of KIAA1018 are sensitized to
            ICL-inducing agents and display chromosomal instability.
REFERENCE   8  (residues 1 to 1017)
  AUTHORS   MacKay,C., Declais,A.C., Lundin,C., Agostinho,A., Deans,A.J.,
            MacArtney,T.J., Hofmann,K., Gartner,A., West,S.C., Helleday,T.,
            Lilley,D.M. and Rouse,J.
  TITLE     Identification of KIAA1018/FAN1, a DNA repair nuclease recruited to
            DNA damage by monoubiquitinated FANCD2
  JOURNAL   Cell 142 (1), 65-76 (2010)
   PUBMED   20603015
  REMARK    GeneRIF: Study describes how a highly conserved protein,
            KIAA1018/MTMR15/FAN1, that interacts with, and is recruited to
            sites of DNA damage by, the monoubiquitinated form of FANCD2.
REFERENCE   9  (residues 1 to 1017)
  AUTHORS   Alonso,A., Sasin,J., Bottini,N., Friedberg,I., Friedberg,I.,
            Osterman,A., Godzik,A., Hunter,T., Dixon,J. and Mustelin,T.
  TITLE     Protein tyrosine phosphatases in the human genome
  JOURNAL   Cell 117 (6), 699-711 (2004)
   PUBMED   15186772
  REMARK    Review article
REFERENCE   10 (residues 1 to 1017)
  AUTHORS   van Bon,B.W.M., Mefford,H.C., de Vries,B.B.A. and Schaaf,C.P.
  TITLE     15q13.3 Recurrent Deletion
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   21290787
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA841207.1, AB023235.2,
            BC044890.1, CR936727.1 and CR936734.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 2, 2009 this sequence version replaced NP_055782.2.
            
            Summary: This gene plays a role in DNA interstrand cross-link
            repair and encodes a protein with 5' flap endonuclease and 5'-3'
            exonuclease activity. Mutations in this gene cause karyomegalic
            interstitial nephritis. Alternatively spliced transcript variants
            encoding distinct isoforms have been described. [provided by
            RefSeq, Feb 2016].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longer isoform (a).
            
            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 :: CR936734.1, SRR1660809.91497.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000362065.9/ ENSP00000354497.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1017
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q13.3"
     Protein         1..1017
                     /product="fanconi-associated nuclease 1 isoform a"
                     /EC_number="3.1.4.1"
                     /note="fanconi anemia associated nuclease 1; coiled-coil
                     domain-containing protein MTMR15; myotubularin-related
                     protein 15; FANCD2/FANCI-associated nuclease 1"
                     /calculated_mol_wt=114094
     Region          1..23
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2M0.4)"
     Region          14..22
                     /region_name="D-box. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2M0.4)"
     Region          41..62
                     /region_name="ZnF_Rad18"
                     /note="Rad18-like CCHC zinc finger; smart00734"
                     /db_xref="CDD:128973"
     Region          95..121
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2M0.4)"
     Region          170..189
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2M0.4)"
     Site            180
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q9Y2M0.4)"
     Region          212..214
                     /region_name="KEN box. /evidence=ECO:0000305"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9Y2M0.4)"
     Region          373..1017
                     /region_name="FAN1-like"
                     /note="repair nuclease FAN1; cd22326"
                     /db_xref="CDD:411730"
     Site            order(373..374,420,424..425,433,436,473..475,492..494,573,
                     576..578,581,620,672,675,678..679,681,706,710,713,
                     717..718,742,749,752,794..795,952,980,982,986)
                     /site_type="DNA binding"
                     /note="DNA binding site [nucleotide binding]"
                     /db_xref="CDD:411730"
     CDS             1..1017
                     /gene="FAN1"
                     /gene_synonym="hFAN1; KIAA1018; KMIN; MTMR15"
                     /coded_by="NM_014967.5:250..3303"
                     /note="isoform a is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS32186.1"
                     /db_xref="GeneID:22909"
                     /db_xref="HGNC:HGNC:29170"
                     /db_xref="MIM:613534"
ORIGIN      
        1 mmsegkppdk krprrslsis knkkkasnsi iscfnnappa klacpvcskm vprydlnrhl
       61 demcanndfv qvdpgqvgli nsnvsmvdlt svtledvtpk kspppktnlt pgqsdsakre
      121 vkqkispyfk sndvvcknqd elrnrsvkvi clgslaskls rkyvkakksi dkdeefagss
      181 pqsskstvvk slidnsseie dedqilenss qkenvfkcds lkeecipehm vrgskimeae
      241 sqkatrecek saltpgfsdn aimlfspdft lrntlkstse dslvkqecik evvekreach
      301 ceevkmtvas eakiqlsdse akshssadda sawsniqeap lqddsclnnd iphsipleqg
      361 sscngpgqtt ghpyylrsfl vvlktvlene ddmllfdeqe kgivtkfyql satgqklyvr
      421 lfqrklswik mtkleyeeia ldltpvieel tnagflqtes elqelsevle llsapelksl
      481 aktfhlvnpn gqkqqlvdaf lklakqrsvc twgknkpgig avilkrakal agqsvrickg
      541 pravfsrill lfsltdsmed edaacggqgq lstvllvnlg rmefpsytin rkthifqdrd
      601 dliryaaath mlsdissama ngnweeakel aqcakrdwnr lknhpslrch edlplflrcf
      661 tvgwiytril srfveilqrl hmyeeavrel esllsqriyc pdsrgrwwdr lalnlhqhlk
      721 rleptikcit egladpevrt ghrlslyqra vrlrespsck kfkhlfqqlp emavqdvkhv
      781 titgrlcpqr gmcksvfvme ageaadpttv lcsveelala hyrrsgfdqg ihgegstfst
      841 lyglllwdii fmdgipdvfr nacqafpldl ctdsfftsrr palearlqli hdapeeslra
      901 wvaatwheqe grvaslvswd rftslqqaqd lvsclggpvl sgvcrhlaad frhcrgglpd
      961 lvvwnsqsrh fklvevkgpn drlshkqmiw laelqklgae vevchvvavg aksqsls
//
