LOCUS       NM_022725               3291 bp    mRNA    linear   PRI 12-OCT-2024
DEFINITION  Homo sapiens FA complementation group F (FANCF), mRNA.
ACCESSION   NM_022725
VERSION     NM_022725.4
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  (bases 1 to 3291)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   2  (bases 1 to 3291)
  AUTHORS   Yu,H., Pan,R., Gao,T., Wu,D., Ying,J. and Duan,S.
  TITLE     FANCF hypomethylation is associated with colorectal cancer in Han
            Chinese
  JOURNAL   Turk J Gastroenterol 31 (8), 558-565 (2020)
   PUBMED   32915143
  REMARK    GeneRIF: FANCF hypomethylation is associated with colorectal cancer
            in Han Chinese.
REFERENCE   3  (bases 1 to 3291)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 3291)
  AUTHORS   Zareifar,S., Dastsooz,H., Shahriari,M., Faghihi,M.A.,
            Shekarkhar,G., Bordbar,M., Zekavat,O.R. and Shakibazad,N.
  TITLE     A novel frame-shift deletion in FANCF gene causing autosomal
            recessive Fanconi anemia: a case report
  JOURNAL   BMC Med Genet 20 (1), 122 (2019)
   PUBMED   31288759
  REMARK    GeneRIF: A mutation in the FANCF gene in Iranian patients with
            Fanconi anemia. This new mutation correlates with a hematological
            problem (pancytopenia), short stature, and microcephaly and skin
            hyperpigmentation. Until now, no evidence of malignancy was
            detected.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3291)
  AUTHORS   Medhurst,A.L., Huber,P.A., Waisfisz,Q., de Winter,J.P. and
            Mathew,C.G.
  TITLE     Direct interactions of the five known Fanconi anaemia proteins
            suggest a common functional pathway
  JOURNAL   Hum Mol Genet 10 (4), 423-429 (2001)
   PUBMED   11157805
REFERENCE   6  (bases 1 to 3291)
  AUTHORS   de Winter,J.P., van der Weel,L., de Groot,J., Stone,S.,
            Waisfisz,Q., Arwert,F., Scheper,R.J., Kruyt,F.A., Hoatlin,M.E. and
            Joenje,H.
  TITLE     The Fanconi anemia protein FANCF forms a nuclear complex with
            FANCA, FANCC and FANCG
  JOURNAL   Hum Mol Genet 9 (18), 2665-2674 (2000)
   PUBMED   11063725
REFERENCE   7  (bases 1 to 3291)
  AUTHORS   de Winter,J.P., Rooimans,M.A., van Der Weel,L., van Berkel,C.G.,
            Alon,N., Bosnoyan-Collins,L., de Groot,J., Zhi,Y., Waisfisz,Q.,
            Pronk,J.C., Arwert,F., Mathew,C.G., Scheper,R.J., Hoatlin,M.E.,
            Buchwald,M. and Joenje,H.
  TITLE     The Fanconi anaemia gene FANCF encodes a novel protein with
            homology to ROM
  JOURNAL   Nat Genet 24 (1), 15-16 (2000)
   PUBMED   10615118
REFERENCE   8  (bases 1 to 3291)
  AUTHORS   Joenje,H., Oostra,A.B., Wijker,M., di Summa,F.M., van Berkel,C.G.,
            Rooimans,M.A., Ebell,W., van Weel,M., Pronk,J.C., Buchwald,M. and
            Arwert,F.
  TITLE     Evidence for at least eight Fanconi anemia genes
  JOURNAL   Am J Hum Genet 61 (4), 940-944 (1997)
   PUBMED   9382107
REFERENCE   9  (bases 1 to 3291)
  AUTHORS   Scott,D.A.
  TITLE     Esophageal Atresia / Tracheoesophageal Fistula Overview - RETIRED
            CHAPTER, FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301753
REFERENCE   10 (bases 1 to 3291)
  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 AC103801.2.
            
            On Aug 31, 2019 this sequence version replaced NM_022725.3.
            
            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 F.
            [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 is intronless :: AK001716.2, AK023153.1 [ECO:0000345]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000327470.6/ ENSP00000330875.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3291              AC103801.2         163267-166557
FEATURES             Location/Qualifiers
     source          1..3291
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p14.3"
     gene            1..3291
                     /gene="FANCF"
                     /gene_synonym="FAF"
                     /note="FA complementation group F"
                     /db_xref="GeneID:2188"
                     /db_xref="HGNC:HGNC:3587"
                     /db_xref="MIM:613897"
     exon            1..3291
                     /gene="FANCF"
                     /gene_synonym="FAF"
                     /inference="alignment:Splign:2.1.0"
     CDS             14..1138
                     /gene="FANCF"
                     /gene_synonym="FAF"
                     /note="Fanconi anemia complementation group F"
                     /codon_start=1
                     /product="Fanconi anemia group F protein"
                     /protein_id="NP_073562.1"
                     /db_xref="CCDS:CCDS7857.1"
                     /db_xref="GeneID:2188"
                     /db_xref="HGNC:HGNC:3587"
                     /db_xref="MIM:613897"
                     /translation="MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHI
                     HRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGLANFQALGHCDVLLSLRLLENRA
                     LGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQED
                     SLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRP
                     QEELEPGIHKSPGEGSQVLVHWLLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLG
                     LLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPPLKDKVLTALETCKA
                     QDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV"
     regulatory      1640..1645
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCF"
                     /gene_synonym="FAF"
                     /note="hexamer: ATTAAA"
     polyA_site      1662
                     /gene="FANCF"
                     /gene_synonym="FAF"
                     /note="major polyA site"
     regulatory      2740..2745
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCF"
                     /gene_synonym="FAF"
                     /note="hexamer: AATAAA"
     polyA_site      2762
                     /gene="FANCF"
                     /gene_synonym="FAF"
                     /note="major polyA site"
     regulatory      2903..2908
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCF"
                     /gene_synonym="FAF"
                     /note="hexamer: AATAAA"
     regulatory      2933..2938
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCF"
                     /gene_synonym="FAF"
                     /note="hexamer: AAGAAA"
     polyA_site      2938
                     /gene="FANCF"
                     /gene_synonym="FAF"
     polyA_site      2955
                     /gene="FANCF"
                     /gene_synonym="FAF"
     regulatory      3073..3078
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCF"
                     /gene_synonym="FAF"
                     /note="hexamer: AGTAAA"
     regulatory      3094..3099
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANCF"
                     /gene_synonym="FAF"
                     /note="hexamer: AACAAA"
     polyA_site      3104
                     /gene="FANCF"
                     /gene_synonym="FAF"
     polyA_site      3117
                     /gene="FANCF"
                     /gene_synonym="FAF"
ORIGIN      
        1 cttcgcgcac ctcatggaat cccttctgca gcacctggat cgcttttccg agcttctggc
       61 ggtctcaagc actacctacg tcagcacctg ggaccccgcc accgtgcgcc gggccttgca
      121 gtgggcgcgc tacctgcgcc acatccatcg gcgctttggt cggcatggcc ccattcgcac
      181 ggctctggag cggcggctgc acaaccagtg gaggcaagag ggcggctttg ggcggggtcc
      241 agttccggga ttagcgaact tccaggccct cggtcactgt gacgtcctgc tctctctgcg
      301 cctgctggag aaccgggccc tcggggatgc agctcgttac cacctggtgc agcaactctt
      361 tcccggcccg ggcgtccggg acgccgatga ggagacactc caagagagcc tggcccgcct
      421 tgcccgccgg cggtctgcgg tgcacatgct gcgcttcaat ggctatagag agaacccaaa
      481 tctccaggag gactctctga tgaagaccca ggcggagctg ctgctggagc gtctgcagga
      541 ggtggggaag gccgaagcgg agcgtcccgc caggtttctc agcagcctgt gggagcgctt
      601 gcctcagaac aacttcctga aggtgatagc ggtggcgctg ttgcagccgc ctttgtctcg
      661 tcggccccaa gaagagttgg aacccggcat ccacaaatca cctggagagg ggagccaagt
      721 gctagtccac tggcttctgg ggaattcgga agtctttgct gccttttgtc gcgccctccc
      781 agccgggctt ttgactttag tgactagccg ccacccagcg ctgtctcctg tctatctggg
      841 tctgctaaca gactggggtc aacgtttgca ctatgacctt cagaaaggca tttgggttgg
      901 aactgagtcc caagatgtgc cctgggagga gttgcacaat aggtttcaaa gcctctgtca
      961 ggcccctcca cctctgaaag ataaagttct aactgccctg gagacctgta aagcgcagga
     1021 tggagatttt gaagtacctg gtcttagcat ctggacagac ctcttattag ctcttcgtag
     1081 tggtgcattt aggaaaagac aagttttggg tctcagcgca ggcctcagtt ctgtataggc
     1141 aatgctgtgt tattacttga atatagaata tatagtttac aaaatgaaaa ttacaatgtt
     1201 ctcaccaaat atatgccttc gtgtgtccaa agtataatta ttttagatgc taattttgaa
     1261 tagtttatta aacagttata aatatgcaaa gtagctggca tgtagtgtca cggattttct
     1321 ggatagagga agtgattgga agtactccac ttaaagccat ggaattagca atagtttgct
     1381 ttttaataga aggcccattt gtaagaatgt tgaaaatatg tgtaccgttt aaagaaaaag
     1441 cagctttaaa gtgacaaaca aaataccctt tttcttttag tatggtttat ttttctaggt
     1501 tttctgtccc tccctcagta gtgaagagtt ttctttattc ctggcagtgt caggaatatt
     1561 ggtttgaaaa gctgttggcc tatctggagt ttggccttgt taacctagta ttctaaccag
     1621 ttaaccagcc ttagtatgca ttaaaattgt attgttcaga aagtttgttt ctcattttct
     1681 gcaaattctt actttgaaaa tgaatcacca catagtatgt ccctttaaag cattgacgca
     1741 cagacaaatg tttaaagcac agtaaatacg aatatatgcc tttggatatt aaattaatgc
     1801 ttgatgataa aagaatcaaa cttttttttt tttgagatgg agtctcgctc tgtcacccag
     1861 actggagtgc agtggtgtga tcactgctca gtgcaacctc tgcctcccag gatcaagcaa
     1921 ttctgactca gcctcccaag tagctgggat tacaggcgca ggccaccatg cccggctaat
     1981 tttttgtatt tttagtagag acggggtttc accatgctgg ccaggctggt ctcaaacacc
     2041 tgaccttgtg atccgtccgc cttggcctcc caaagtgctg ggattacagg cgtgagccac
     2101 cgcgcctggc caaaacaaca ttttaagtag aagatccagg ttttagtgca gcttctgccg
     2161 ttaactaggt taataaatca caaccttggg gccacagttg ccttatatgt aaatgaagtg
     2221 tttagaataa aatagttaaa tttccttatt tttcccttgg tggctgccct gtggaaacag
     2281 tttagaatat ttgttttgtg tgtaggaacc tagttgtgtt agtttacctg ggtgttccac
     2341 agctgatagt gattgccttg aataaattca agggcaattt attcattttt actagggaga
     2401 tagaccttta cagcaatcaa gatatttttg tccatatcca ggttagctgg taagaggatt
     2461 tttttggaga aaaaaatgat atttagaaag ttaatttcta attccggaat ggaataaaaa
     2521 caatatgagt agtgtaatct tgtagaaaaa gagttgtata atcttgtaga atttctcatt
     2581 ctgtggtaca acccaggggt aaactattat tccagtagtc agtacacttt tctagataaa
     2641 tcttgagtga aaaccagcaa tttctttttc cttgtggtct gattcctttt tctaatccat
     2701 gaaggccatc ttgtagatta catttatcat taatgcaaga ataaagacaa ttcctcctgt
     2761 cagttgcgtg aatttttttt aagaaacaac ccagtgaaga gttctaccat agcaaggcct
     2821 aatgttagct ttagctttag aaaataacag tttgtgaact tacttcccta tatttgcagc
     2881 tgtatctcac actatgattt acaataaaat tgtaaagatt gacaatagac ttaagaaata
     2941 acattttaaa atctatttta tacttaccat ttattattct gttattttag tctccatatg
     3001 ttcattacat acataatctt atttaatctt cacaccaaaa ctgtattctt atgaatatac
     3061 gctaaaagat taagtaaaat gcccaagggt ataaacaaaa gcaacatgaa agtggaagcc
     3121 gtatctgtca tttattttat ttccagaagc ctagcacagt gtccagcata tggtagatac
     3181 ttgtagtgtt tgaataaatg aaaccagcat tagagcttta tatactttct cttaaggact
     3241 tgaaaagatt aggaatctac gcatacactg agagagaaaa aagtgagagg a
//
