LOCUS       NM_145235               1271 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens fibronectin type III and ankyrin repeat domains 1
            (FANK1), transcript variant 2, mRNA.
ACCESSION   NM_145235
VERSION     NM_145235.5
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  (bases 1 to 1271)
  AUTHORS   Zhang,S., Zhang,X., Guan,X., Ma,X., Chen,H., Huang,B. and Chen,D.
  TITLE     YAF2 exerts anti-apoptotic effect in human tumor cells in a FANK1-
            and phosphorylation-dependent manner
  JOURNAL   Biochem Biophys Res Commun 554, 99-106 (2021)
   PUBMED   33784512
  REMARK    GeneRIF: YAF2 exerts anti-apoptotic effect in human tumor cells in
            a FANK1- and phosphorylation-dependent manner.
REFERENCE   2  (bases 1 to 1271)
  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   3  (bases 1 to 1271)
  AUTHORS   Kretova,O.V., Fedoseeva,D.M., Kravatsky,Y.V., Klushevskaya,E.S.,
            Alembekov,I.R., Slovohotov,I.Y. and Tchurikov,N.A.
  TITLE     [Contact Sites of rDNA Clusters with FANK1 Gene Correspond to
            Repressed Chromatin]
  JOURNAL   Mol Biol (Mosk) 54 (2), 262-266 (2020)
   PUBMED   32392195
  REMARK    GeneRIF: [Contact Sites of rDNA Clusters with FANK1 Gene Correspond
            to Repressed Chromatin].
REFERENCE   4  (bases 1 to 1271)
  AUTHORS   Ma,W., Zhang,X., Li,M., Ma,X., Huang,B., Chen,H. and Chen,D.
  TITLE     Proapoptotic RYBP interacts with FANK1 and induces tumor cell
            apoptosis through the AP-1 signaling pathway
  JOURNAL   Cell Signal 28 (8), 779-787 (2016)
   PUBMED   27060496
  REMARK    GeneRIF: RYBP activates FANK1-mediated activator protein 1 (AP-1)
            signaling pathway which contributes to tumor cell apoptosis.
REFERENCE   5  (bases 1 to 1271)
  AUTHORS   Tiwari,A., Ram,J. and Luthra-Guptasarma,M.
  TITLE     Targeting the fibronectin type III repeats in tenascin-C inhibits
            epithelial-mesenchymal transition in the context of posterior
            capsular opacification
  JOURNAL   Invest Ophthalmol Vis Sci 56 (1), 272-283 (2014)
   PUBMED   25515583
  REMARK    GeneRIF: the TNfnIII 1-5 repeats play an important role in PCO
            pathology.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1271)
  AUTHORS   Wang,H., Song,W., Hu,T., Zhang,N., Miao,S., Zong,S. and Wang,L.
  TITLE     Fank1 interacts with Jab1 and regulates cell apoptosis via the AP-1
            pathway
  JOURNAL   Cell Mol Life Sci 68 (12), 2129-2139 (2011)
   PUBMED   20978819
  REMARK    GeneRIF: found that Jab1 (Jun activation domain-binding protein 1),
            a co-activator of AP-1, specifically interacted with Fank1
REFERENCE   7  (bases 1 to 1271)
  AUTHORS   Trynka,G., Zhernakova,A., Romanos,J., Franke,L., Hunt,K.A.,
            Turner,G., Bruinenberg,M., Heap,G.A., Platteel,M., Ryan,A.W., de
            Kovel,C., Holmes,G.K., Howdle,P.D., Walters,J.R., Sanders,D.S.,
            Mulder,C.J., Mearin,M.L., Verbeek,W.H., Trimble,V., Stevens,F.M.,
            Kelleher,D., Barisani,D., Bardella,M.T., McManus,R., van Heel,D.A.
            and Wijmenga,C.
  TITLE     Coeliac disease-associated risk variants in TNFAIP3 and REL
            implicate altered NF-kappaB signalling
  JOURNAL   Gut 58 (8), 1078-1083 (2009)
   PUBMED   19240061
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1271)
  AUTHORS   Tremblay,K., Lemire,M., Potvin,C., Tremblay,A., Hunninghake,G.M.,
            Raby,B.A., Hudson,T.J., Perez-Iratxeta,C., Andrade-Navarro,M.A. and
            Laprise,C.
  TITLE     Genes to diseases (G2D) computational method to identify asthma
            candidate genes
  JOURNAL   PLoS One 3 (8), e2907 (2008)
   PUBMED   18682798
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Publication Status: Online-Only
REFERENCE   9  (bases 1 to 1271)
  AUTHORS   Zheng,Z., Zheng,H. and Yan,W.
  TITLE     Fank1 is a testis-specific gene encoding a nuclear protein
            exclusively expressed during the transition from the meiotic to the
            haploid phase of spermatogenesis
  JOURNAL   Gene Expr Patterns 7 (7), 777-783 (2007)
   PUBMED   17604233
  REMARK    GeneRIF: FANK1 may have a role in regulating gene expression in the
            transition from the meiotic phase to the haploid phase during
            spermatogenesis
REFERENCE   10 (bases 1 to 1271)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            HY035204.1, BQ225468.1 and BC024189.2.
            
            On Jul 26, 2019 this sequence version replaced NM_145235.4.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the 5' coding region, compared to variant 1. The encoded
            isoform (2) has the same N- and C-termini, but is shorter than
            isoform 1.
            
            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 :: BC024189.2, SRR14038195.1728511.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968968
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000368693.6/ ENSP00000357682.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-92                HY035204.1         30-121
            93-703              BQ225468.1         62-672
            704-1271            BC024189.2         729-1296
FEATURES             Location/Qualifiers
     source          1..1271
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.2"
     gene            1..1271
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /note="fibronectin type III and ankyrin repeat domains 1"
                     /db_xref="GeneID:92565"
                     /db_xref="HGNC:HGNC:23527"
                     /db_xref="MIM:611640"
     exon            1..92
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /inference="alignment:Splign:2.1.0"
     CDS             80..1117
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /note="isoform 2 is encoded by transcript variant 2;
                     fibronectin type 3 and ankyrin repeat domains 1;
                     fibronectin type 3 and ankyrin repeat domains protein 1"
                     /codon_start=1
                     /product="fibronectin type 3 and ankyrin repeat domains
                     protein 1 isoform 2"
                     /protein_id="NP_660278.3"
                     /db_xref="CCDS:CCDS31309.1"
                     /db_xref="GeneID:92565"
                     /db_xref="HGNC:HGNC:23527"
                     /db_xref="MIM:611640"
                     /translation="MEPQKIMPPSKPHPPVVGKVTHHSIELYWDLEKKAKRQGPQEQW
                     FRFSIEEEDPKMHTYGIIYTGYATKHVVEGLEPRTLYRFRLKVTSPSGECEYSPLVSV
                     STTREPISSEHLHRAVSVNDEDLLVRILQGGRVKVDVPNKFGFTALMVAAQKGYTRLV
                     KILVSNGTDVNLKNGSGKDSLMLACYAGHLDVVKYLRRHGASWQARDLGGCTALHWAA
                     DGGHCSVIEWMIKDGCEVDVVDTGSGWTPLMRVSAVSGNQRVASLLIDAGANVNVKDR
                     NGKTPLMVAVLNNHEELVQLLLDKGADASVKNEFGKGVLEMARVFDRQSVVSLLEERK
                     KKQRPKKSCVC"
     exon            93..270
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /inference="alignment:Splign:2.1.0"
     exon            271..395
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /inference="alignment:Splign:2.1.0"
     exon            396..477
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /inference="alignment:Splign:2.1.0"
     exon            478..552
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /inference="alignment:Splign:2.1.0"
     exon            553..618
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /inference="alignment:Splign:2.1.0"
     exon            619..784
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /inference="alignment:Splign:2.1.0"
     exon            785..928
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /inference="alignment:Splign:2.1.0"
     exon            929..1006
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /inference="alignment:Splign:2.1.0"
     exon            1007..1051
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /inference="alignment:Splign:2.1.0"
     exon            1052..1271
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1253..1258
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /note="hexamer: AATACA"
     polyA_site      1271
                     /gene="FANK1"
                     /gene_synonym="HSD13"
                     /note="major polyA site"
ORIGIN      
        1 aaccgtagcg acgccggccc tggctgagag gcgttaggag tccgggggtt cgcccgcgga
       61 ggccggggag cagccgacca tggagcccca gaaaatcatg ccaccctcaa agcctcatcc
      121 acctgtcgtg ggcaaagtga ctcatcacag cattgaatta tactgggatc tggaaaagaa
      181 agccaaacgc caaggacctc aagagcagtg gttcaggttc tcgattgaag aagaagaccc
      241 caaaatgcac acttatggta tcatttatac gggatatgca acgaagcatg ttgttgaagg
      301 tctggaacca aggacgctgt acagatttcg cctgaaggtc accagcccct ctggggagtg
      361 tgagtacagc ccactcgtct cagtgtctac aaccagagag cccataagta gtgagcactt
      421 gcaccgggct gtcagtgtga atgatgaaga tttgctggtc cgaatacttc aaggaggccg
      481 tgttaaggtt gatgttccca ataagtttgg ctttaccgct ctgatggttg ctgcccagaa
      541 aggatacacc aggcttgtga aaatcctagt ttctaatggc acagacgtga atctgaagaa
      601 tggaagtggc aaggacagtc taatgctggc gtgctatgcg ggacacctag atgttgtgaa
      661 atatctccga agacatggcg cttcttggca ggctagagac ctgggaggct gtacagctct
      721 gcactgggct gcagatggag gccactgcag tgtgattgag tggatgataa aggatggctg
      781 tgaggtagac gtcgtggaca ctggttcagg atggacccca ctcatgagag tctctgcggt
      841 gtcgggaaat cagagggtgg cctctcttct aattgatgct ggggccaatg tgaatgtgaa
      901 ggacagaaat ggaaagacgc cccttatggt ggctgtgtta aataatcatg aagagttagt
      961 tcagttactt cttgacaaag gggcagatgc aagtgtaaaa aatgagttcg gcaaaggtgt
     1021 cctagaaatg gccagagttt ttgacagaca gagtgtagtc tccttattag aagaaaggaa
     1081 aaaaaagcag aggccaaaga agtcttgtgt ctgctgatga gagcaccact catctgcgaa
     1141 acgcacgtaa aacaaagtga accgtgactg ttaaactagg gatgggaaat tctgcatctt
     1201 ggggggctgt acatttattt atttagttga agattcactg atcccacttt gaaatacatc
     1261 tttttaccta a
//
