ID FANK1_HUMAN Reviewed; 345 AA. AC Q8TC84; Q6UXY9; Q6X7T6; DT 26-APR-2005, integrated into UniProtKB/Swiss-Prot. DT 17-OCT-2006, sequence version 3. DT 03-AUG-2022, entry version 154. DE RecName: Full=Fibronectin type 3 and ankyrin repeat domains protein 1 {ECO:0000305}; GN Name=FANK1 {ECO:0000312|HGNC:HGNC:23527}; GN ORFNames=HSD13 {ECO:0000312|EMBL:AAP20060.1}, GN UNQ6504/PRO21382 {ECO:0000312|EMBL:AAQ88521.1}; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). RX PubMed=12975309; DOI=10.1101/gr.1293003; RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J., RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P., RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A., RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D., RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L., RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C., RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J., RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.; RT "The secreted protein discovery initiative (SPDI), a large-scale effort to RT identify novel human secreted and transmembrane proteins: a bioinformatics RT assessment."; RL Genome Res. 13:2265-2270(2003). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). RC TISSUE=Testis; RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 7-345 (ISOFORM 2). RC TISSUE=Testis; RA Hu T.H., Miao S.Y., Zhang X.D., Qiao Y., Liang G., Wang L.F.; RT "A new spermatogenesis-related gene."; RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases. RN [4] RP TISSUE SPECIFICITY. RX PubMed=17604233; DOI=10.1016/j.modgep.2007.05.005; RA Zheng Z., Zheng H., Yan W.; RT "Fank1 is a testis-specific gene encoding a nuclear protein exclusively RT expressed during the transition from the meiotic to the haploid phase of RT spermatogenesis."; RL Gene Expr. Patterns 7:777-783(2007). RN [5] RP FUNCTION, INTERACTION WITH COPS5, SUBCELLULAR LOCATION, AND DOMAIN. RX PubMed=20978819; DOI=10.1007/s00018-010-0559-4; RA Wang H., Song W., Hu T., Zhang N., Miao S., Zong S., Wang L.; RT "Fank1 interacts with Jab1 and regulates cell apoptosis via the AP-1 RT pathway."; RL Cell. Mol. Life Sci. 68:2129-2139(2011). RN [6] RP FUNCTION, INTERACTION WITH RYBP, SUBCELLULAR LOCATION, DOMAIN, AND RP UBIQUITINATION. RX PubMed=27060496; DOI=10.1016/j.cellsig.2016.03.012; RA Ma W., Zhang X., Li M., Ma X., Huang B., Chen H., Chen D.; RT "Proapoptotic RYBP interacts with FANK1 and induces tumor cell apoptosis RT through the AP-1 signaling pathway."; RL Cell. Signal. 28:779-787(2016). CC -!- FUNCTION: Through the activation of JUN and AP-1-mediated CC transcription, may regulate apoptosis. {ECO:0000269|PubMed:20978819, CC ECO:0000269|PubMed:27060496}. CC -!- SUBUNIT: Interacts with COPS5; regulates the phosphorylation of JUN and CC the transcriptional activity of AP-1 (PubMed:20978819). Interacts with CC RYBP; may prevent the ubiquitin-mediated proteasomal degradation of CC FANK1 (PubMed:27060496). {ECO:0000269|PubMed:20978819, CC ECO:0000269|PubMed:27060496}. CC -!- INTERACTION: CC Q8TC84; P22607: FGFR3; NbExp=3; IntAct=EBI-21975404, EBI-348399; CC Q8TC84; P04792: HSPB1; NbExp=3; IntAct=EBI-21975404, EBI-352682; CC Q8TC84; P42858: HTT; NbExp=3; IntAct=EBI-21975404, EBI-466029; CC Q8TC84; O60333-2: KIF1B; NbExp=3; IntAct=EBI-21975404, EBI-10975473; CC Q8TC84; P07196: NEFL; NbExp=3; IntAct=EBI-21975404, EBI-475646; CC Q8TC84; O76024: WFS1; NbExp=3; IntAct=EBI-21975404, EBI-720609; CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:20978819, CC ECO:0000269|PubMed:27060496}. Cytoplasm, cytosol CC {ECO:0000269|PubMed:20978819}. Cytoplasm, cytoskeleton, cilium basal CC body {ECO:0000250|UniProtKB:Q9DAM9}. Cell projection, cilium CC {ECO:0000250|UniProtKB:Q9DAM9}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; CC IsoId=Q8TC84-1; Sequence=Displayed; CC Name=2; CC IsoId=Q8TC84-2; Sequence=VSP_013568; CC Name=3; CC IsoId=Q8TC84-3; Sequence=VSP_013569; CC -!- TISSUE SPECIFICITY: Mostly restricted to testis. CC {ECO:0000269|PubMed:17604233}. CC -!- DOMAIN: The fibronectin type-III domain mediates interaction with COPS5 CC and RYBP. {ECO:0000269|PubMed:20978819, ECO:0000269|PubMed:27060496}. CC -!- PTM: Polyubiquitinated. Polyubiquitination leads to proteasomal CC degradation. {ECO:0000269|PubMed:27060496}. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AY358154; AAQ88521.1; -; mRNA. DR EMBL; BC024189; AAH24189.2; -; mRNA. DR EMBL; AY251163; AAP20060.1; -; mRNA. DR CCDS; CCDS31309.1; -. [Q8TC84-1] DR RefSeq; NP_660278.3; NM_145235.3. [Q8TC84-1] DR RefSeq; XP_011538652.1; XM_011540350.2. DR AlphaFoldDB; Q8TC84; -. DR SMR; Q8TC84; -. DR BioGRID; 124956; 11. DR IntAct; Q8TC84; 13. DR STRING; 9606.ENSP00000357682; -. DR iPTMnet; Q8TC84; -. DR PhosphoSitePlus; Q8TC84; -. DR BioMuta; FANK1; -. DR DMDM; 116241361; -. DR MassIVE; Q8TC84; -. DR PaxDb; Q8TC84; -. DR PeptideAtlas; Q8TC84; -. DR PRIDE; Q8TC84; -. DR ProteomicsDB; 74098; -. [Q8TC84-1] DR ProteomicsDB; 74099; -. [Q8TC84-2] DR ProteomicsDB; 74100; -. [Q8TC84-3] DR Antibodypedia; 48696; 99 antibodies from 18 providers. DR DNASU; 92565; -. DR Ensembl; ENST00000368693.6; ENSP00000357682.1; ENSG00000203780.12. [Q8TC84-1] DR GeneID; 92565; -. DR KEGG; hsa:92565; -. DR MANE-Select; ENST00000368693.6; ENSP00000357682.1; NM_145235.5; NP_660278.3. DR UCSC; uc001ljh.5; human. [Q8TC84-1] DR CTD; 92565; -. DR DisGeNET; 92565; -. DR GeneCards; FANK1; -. DR HGNC; HGNC:23527; FANK1. DR HPA; ENSG00000203780; Tissue enhanced (choroid plexus, fallopian tube, testis). DR MIM; 611640; gene. DR neXtProt; NX_Q8TC84; -. DR OpenTargets; ENSG00000203780; -. DR PharmGKB; PA134976727; -. DR VEuPathDB; HostDB:ENSG00000203780; -. DR eggNOG; KOG0504; Eukaryota. DR GeneTree; ENSGT00940000160878; -. DR InParanoid; Q8TC84; -. DR OMA; NFGHRLR; -. DR OrthoDB; 1514637at2759; -. DR PhylomeDB; Q8TC84; -. DR TreeFam; TF106234; -. DR PathwayCommons; Q8TC84; -. DR SignaLink; Q8TC84; -. DR BioGRID-ORCS; 92565; 13 hits in 1047 CRISPR screens. DR ChiTaRS; FANK1; human. DR GenomeRNAi; 92565; -. DR Pharos; Q8TC84; Tbio. DR PRO; PR:Q8TC84; -. DR Proteomes; UP000005640; Chromosome 10. DR RNAct; Q8TC84; protein. DR Bgee; ENSG00000203780; Expressed in right uterine tube and 131 other tissues. DR ExpressionAtlas; Q8TC84; baseline and differential. DR GO; GO:0036064; C:ciliary basal body; ISS:UniProtKB. DR GO; GO:0097546; C:ciliary base; IEA:Ensembl. DR GO; GO:0005929; C:cilium; ISS:UniProtKB. DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB. DR GO; GO:0005829; C:cytosol; IDA:UniProtKB. DR GO; GO:0005654; C:nucleoplasm; IDA:HPA. DR GO; GO:0005634; C:nucleus; IDA:UniProtKB. DR GO; GO:0043066; P:negative regulation of apoptotic process; IMP:UniProtKB. DR GO; GO:0043065; P:positive regulation of apoptotic process; IMP:UniProtKB. DR GO; GO:0051091; P:positive regulation of DNA-binding transcription factor activity; IMP:UniProtKB. DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IMP:UniProtKB. DR GO; GO:0042981; P:regulation of apoptotic process; IBA:GO_Central. DR CDD; cd00063; FN3; 1. DR Gene3D; 1.25.40.20; -; 2. DR Gene3D; 2.60.40.10; -; 1. DR InterPro; IPR002110; Ankyrin_rpt. DR InterPro; IPR036770; Ankyrin_rpt-contain_sf. DR InterPro; IPR003961; FN3_dom. DR InterPro; IPR036116; FN3_sf. DR InterPro; IPR013783; Ig-like_fold. DR Pfam; PF12796; Ank_2; 2. DR PRINTS; PR01415; ANKYRIN. DR SMART; SM00248; ANK; 6. DR SMART; SM00060; FN3; 1. DR SUPFAM; SSF48403; SSF48403; 1. DR SUPFAM; SSF49265; SSF49265; 1. DR PROSITE; PS50297; ANK_REP_REGION; 1. DR PROSITE; PS50088; ANK_REPEAT; 5. DR PROSITE; PS50853; FN3; 1. PE 1: Evidence at protein level; KW Alternative splicing; ANK repeat; Cell projection; Cytoplasm; Cytoskeleton; KW Nucleus; Reference proteome; Repeat; Ubl conjugation. FT CHAIN 1..345 FT /note="Fibronectin type 3 and ankyrin repeat domains FT protein 1" FT /id="PRO_0000066990" FT DOMAIN 8..108 FT /note="Fibronectin type-III" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00316" FT REPEAT 109..139 FT /note="ANK 1" FT REPEAT 143..172 FT /note="ANK 2" FT REPEAT 176..205 FT /note="ANK 3" FT REPEAT 209..238 FT /note="ANK 4" FT REPEAT 243..273 FT /note="ANK 5" FT REPEAT 277..306 FT /note="ANK 6" FT VAR_SEQ 106 FT /note="R -> RPSLSKSLVKIRMVTSVLHGPPTENTG (in isoform 3)" FT /evidence="ECO:0000303|PubMed:12975309" FT /id="VSP_013569" FT VAR_SEQ 325..345 FT /note="SVVSLLEERKKKQRPKKSCVC -> VGMLFLPIKANF (in isoform FT 2)" FT /evidence="ECO:0000303|Ref.3" FT /id="VSP_013568" FT VARIANT 12 FT /note="P -> L (in dbSNP:rs17153879)" FT /id="VAR_048296" FT VARIANT 46 FT /note="R -> S (in dbSNP:rs17153882)" FT /id="VAR_027896" FT VARIANT 329 FT /note="L -> V (in dbSNP:rs1666)" FT /id="VAR_024176" FT VARIANT 343 FT /note="C -> F (in dbSNP:rs17153976)" FT /id="VAR_048297" FT CONFLICT 5 FT /note="K -> R (in Ref. 2; AAH24189)" FT /evidence="ECO:0000305" SQ SEQUENCE 345 AA; 38341 MW; 47C16DE1ABF814E5 CRC64; MEPQKIMPPS KPHPPVVGKV THHSIELYWD LEKKAKRQGP QEQWFRFSIE EEDPKMHTYG IIYTGYATKH VVEGLEPRTL YRFRLKVTSP SGECEYSPLV SVSTTREPIS SEHLHRAVSV NDEDLLVRIL QGGRVKVDVP NKFGFTALMV AAQKGYTRLV KILVSNGTDV NLKNGSGKDS LMLACYAGHL DVVKYLRRHG ASWQARDLGG CTALHWAADG GHCSVIEWMI KDGCEVDVVD TGSGWTPLMR VSAVSGNQRV ASLLIDAGAN VNVKDRNGKT PLMVAVLNNH EELVQLLLDK GADASVKNEF GKGVLEMARV FDRQSVVSLL EERKKKQRPK KSCVC //