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ANKS6_DANRE
ID   ANKS6_DANRE             Reviewed;         739 AA.
AC   Q5XJ13;
DT   13-NOV-2013, integrated into UniProtKB/Swiss-Prot.
DT   23-NOV-2004, sequence version 1.
DT   03-AUG-2022, entry version 86.
DE   RecName: Full=Ankyrin repeat and SAM domain-containing protein 6;
DE   AltName: Full=Ankyrin repeat domain-containing protein 14;
DE   AltName: Full=SamCystin;
DE   AltName: Full=Sterile alpha motif domain-containing protein 6;
DE            Short=SAM domain-containing protein 6;
GN   Name=anks6; Synonyms=samd6; ORFNames=zgc:85964;
OS   Danio rerio (Zebrafish) (Brachydanio rerio).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes;
OC   Danionidae; Danioninae; Danio.
OX   NCBI_TaxID=7955;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Embryo;
RG   NIH - Zebrafish Gene Collection (ZGC) project;
RL   Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases.
RN   [2]
RP   DISRUPTION PHENOTYPE.
RX   PubMed=23793029; DOI=10.1038/ng.2681;
RA   Hoff S., Halbritter J., Epting D., Frank V., Nguyen T.M., van Reeuwijk J.,
RA   Boehlke C., Schell C., Yasunaga T., Helmstadter M., Mergen M., Filhol E.,
RA   Boldt K., Horn N., Ueffing M., Otto E.A., Eisenberger T., Elting M.W.,
RA   van Wijk J.A., Bockenhauer D., Sebire N.J., Rittig S., Vyberg M., Ring T.,
RA   Pohl M., Pape L., Neuhaus T.J., Elshakhs N.A., Koon S.J., Harris P.C.,
RA   Grahammer F., Huber T.B., Kuehn E.W., Kramer-Zucker A., Bolz H.J.,
RA   Roepman R., Saunier S., Walz G., Hildebrandt F., Bergmann C.,
RA   Lienkamp S.S.;
RT   "ANKS6 is a central component of a nephronophthisis module linking NEK8 to
RT   INVS and NPHP3.";
RL   Nat. Genet. 45:951-956(2013).
CC   -!- FUNCTION: Required for renal function. {ECO:0000250|UniProtKB:Q68DC2}.
CC   -!- SUBCELLULAR LOCATION: Cell projection, cilium
CC       {ECO:0000250|UniProtKB:Q6GQX6}.
CC   -!- DISRUPTION PHENOTYPE: Morpholino knockdown of the protein in the embryo
CC       causes pronephric cyst formation and laterality defects, including
CC       reversed heart looping. {ECO:0000269|PubMed:23793029}.
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DR   EMBL; BC083503; AAH83503.1; -; mRNA.
DR   RefSeq; NP_001005928.1; NM_001005928.1.
DR   AlphaFoldDB; Q5XJ13; -.
DR   SMR; Q5XJ13; -.
DR   GeneID; 449657; -.
DR   KEGG; dre:449657; -.
DR   CTD; 203286; -.
DR   ZFIN; ZDB-GENE-041010-213; anks6.
DR   PhylomeDB; Q5XJ13; -.
DR   PRO; PR:Q5XJ13; -.
DR   Proteomes; UP000000437; Genome assembly.
DR   Proteomes; UP000814640; Unplaced.
DR   GO; GO:0005929; C:cilium; IEA:UniProtKB-SubCell.
DR   GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR   GO; GO:0048793; P:pronephros development; IMP:ZFIN.
DR   Gene3D; 1.10.150.50; -; 1.
DR   Gene3D; 1.25.40.20; -; 2.
DR   InterPro; IPR002110; Ankyrin_rpt.
DR   InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR   InterPro; IPR001660; SAM.
DR   InterPro; IPR013761; SAM/pointed_sf.
DR   Pfam; PF12796; Ank_2; 1.
DR   Pfam; PF13637; Ank_4; 1.
DR   Pfam; PF00536; SAM_1; 1.
DR   PRINTS; PR01415; ANKYRIN.
DR   SMART; SM00248; ANK; 5.
DR   SMART; SM00454; SAM; 1.
DR   SUPFAM; SSF47769; SSF47769; 1.
DR   SUPFAM; SSF48403; SSF48403; 1.
DR   PROSITE; PS50297; ANK_REP_REGION; 1.
DR   PROSITE; PS50088; ANK_REPEAT; 4.
DR   PROSITE; PS50105; SAM_DOMAIN; 1.
PE   2: Evidence at transcript level;
KW   ANK repeat; Cell projection; Cilium; Developmental protein;
KW   Reference proteome; Repeat.
FT   CHAIN           1..739
FT                   /note="Ankyrin repeat and SAM domain-containing protein 6"
FT                   /id="PRO_0000424414"
FT   REPEAT          1..30
FT                   /note="ANK 1"
FT   REPEAT          57..86
FT                   /note="ANK 2"
FT   REPEAT          91..120
FT                   /note="ANK 3"
FT   REPEAT          124..156
FT                   /note="ANK 4"
FT   REPEAT          158..188
FT                   /note="ANK 5"
FT   REPEAT          192..221
FT                   /note="ANK 6"
FT   REPEAT          226..255
FT                   /note="ANK 7"
FT   REPEAT          259..290
FT                   /note="ANK 8"
FT   DOMAIN          643..706
FT                   /note="SAM"
FT                   /evidence="ECO:0000255|PROSITE-ProRule:PRU00184"
FT   REGION          295..320
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          449..645
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        459..534
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        574..592
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        593..607
FT                   /note="Pro residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        615..645
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ   SEQUENCE   739 AA;  78530 MW;  E3C75595F3558345 CRC64;
     MGASVLAMAA RGGHTHTVKL LLENGAFVDD CEHACVSEGN TNTHCSAGSV QEARALLEVR
     ALLAAAQHGQ GAAVALLLDW GSDARVCHTG TGWSALMLAA AGGSLSVCQQ LVERGADPDH
     TNVLGNTALE VALQLRRRDV QKYLDNITSV RPRPDDEKKR PDVFHALKLG NAQLVKEIVE
     QDAAQVDVCN ADGASPLMMA AVSGQLEVVQ LLVEKRADVD RQDSVHGWTA LMQATYHGNK
     EVVKFLLSQG ADVQLRAKNG YTAFDLVMLL NDPDTELVRL LASVCMLVDK DKSKQRGKSA
     LRRRASAGTP SPPEDKTGLK SWWNRMSNRF RRLKLTHTLR HGLSTNRLAP FPDAADVPLD
     ATMRAEEGGA EVASPTAPPA GAQSTACSRT EDCGLNGTGS GKEDFLITTM LRNGAPLARL
     PSEQLKAVIP PFLPPSCFEP WSSERCGSLR DARSTHTHSQ RPGRSSAGSD TASISRVVNR
     SIKFPSITKG PSPSNSGSYN SAHSSGGSNG VGGVNRHSDT HNRSGGSAAD SVLSQIAAQR
     KRAAGLMDSR SPAVETPSPA HTPLPDSRPK LELQKRPQSG NSSRSKSTSP TLTPSPSPTP
     AHTPAPAHTP AHRPTGASAD SQGSASTQQR SRSSGGSSSG TITDEDELSG ILRKLSLEKY
     QPIFEEQEVD MEAFLTLTDG DLQELGIRTD GPRQQILAAI SELNAGKGRE RQILQETIIN
     FQSSFGSSAS TPRAATHTH
 
 
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