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 27-MAR-2024, entry version 91.
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 AGR; ZFIN:ZDB-GENE-041010-213; -.
DR CTD; 203286; -.
DR ZFIN; ZDB-GENE-041010-213; anks6.
DR InParanoid; Q5XJ13; -.
DR PhylomeDB; Q5XJ13; -.
DR PRO; PR:Q5XJ13; -.
DR Proteomes; UP000000437; Genome assembly.
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 CDD; cd09518; SAM_ANKS6; 1.
DR Gene3D; 1.25.40.20; Ankyrin repeat-containing domain; 2.
DR Gene3D; 1.10.150.50; Transcription Factor, Ets-1; 1.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR001660; SAM.
DR InterPro; IPR013761; SAM/pointed_sf.
DR PANTHER; PTHR23206:SF1; ANKYRIN REPEAT DOMAIN-CONTAINING PROTEIN 17; 1.
DR PANTHER; PTHR23206; MASK PROTEIN; 1.
DR Pfam; PF00023; Ank; 1.
DR Pfam; PF12796; Ank_2; 2.
DR Pfam; PF00536; SAM_1; 1.
DR PRINTS; PR01415; ANKYRIN.
DR SMART; SM00248; ANK; 5.
DR SMART; SM00454; SAM; 1.
DR SUPFAM; SSF48403; Ankyrin repeat; 1.
DR SUPFAM; SSF47769; SAM/Pointed domain; 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
//
