FANK1_HUMAN
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}.
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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
