ANKR6_HUMAN
ID ANKR6_HUMAN Reviewed; 727 AA.
AC Q9Y2G4; B3KUC3; Q5JUJ4; Q5JUJ5; Q8IUQ8; Q9NU24; Q9UFQ9;
DT 20-JUN-2001, integrated into UniProtKB/Swiss-Prot.
DT 05-APR-2011, sequence version 3.
DT 03-AUG-2022, entry version 182.
DE RecName: Full=Ankyrin repeat domain-containing protein 6;
DE AltName: Full=Diversin;
GN Name=ANKRD6; Synonyms=KIAA0957;
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 2), AND VARIANT VAL-128.
RC TISSUE=Brain;
RX PubMed=10231032; DOI=10.1093/dnares/6.1.63;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XIII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:63-70(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4).
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT VAL-128.
RC TISSUE=Brain;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 87-727 (ISOFORM 1), AND VARIANT
RP VAL-128.
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- FUNCTION: Recruits CKI-epsilon to the beta-catenin degradation complex
CC that consists of AXN1 or AXN2 and GSK3-beta and allows efficient
CC phosphorylation of beta-catenin, thereby inhibiting beta-catenin/Tcf
CC signals. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with AXN1, AXN2 and CSNK1E/CKI-epsilon.
CC {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9Y2G4-2; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9Y2G4-1; Sequence=VSP_000270;
CC Name=3;
CC IsoId=Q9Y2G4-3; Sequence=VSP_031591;
CC Name=4;
CC IsoId=Q9Y2G4-4; Sequence=VSP_043189, VSP_043190, VSP_031591;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAA76801.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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; AB023174; BAA76801.2; ALT_INIT; mRNA.
DR EMBL; AK096867; BAG53385.1; -; mRNA.
DR EMBL; AL096678; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL159174; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL136971; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL138717; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC042173; AAH42173.1; -; mRNA.
DR EMBL; AL117504; CAB55968.1; -; mRNA.
DR CCDS; CCDS47460.1; -. [Q9Y2G4-3]
DR CCDS; CCDS56441.1; -. [Q9Y2G4-2]
DR CCDS; CCDS56442.1; -. [Q9Y2G4-1]
DR CCDS; CCDS56443.1; -. [Q9Y2G4-4]
DR RefSeq; NP_001229738.1; NM_001242809.1. [Q9Y2G4-2]
DR RefSeq; NP_001229740.1; NM_001242811.1. [Q9Y2G4-2]
DR RefSeq; NP_001229742.1; NM_001242813.1. [Q9Y2G4-1]
DR RefSeq; NP_001229743.1; NM_001242814.1. [Q9Y2G4-4]
DR RefSeq; NP_055757.3; NM_014942.4. [Q9Y2G4-3]
DR RefSeq; XP_005248738.1; XM_005248681.2. [Q9Y2G4-2]
DR RefSeq; XP_011533902.1; XM_011535600.2. [Q9Y2G4-4]
DR AlphaFoldDB; Q9Y2G4; -.
DR SMR; Q9Y2G4; -.
DR BioGRID; 116548; 5.
DR DIP; DIP-39375N; -.
DR IntAct; Q9Y2G4; 3.
DR STRING; 9606.ENSP00000430985; -.
DR iPTMnet; Q9Y2G4; -.
DR PhosphoSitePlus; Q9Y2G4; -.
DR BioMuta; ANKRD6; -.
DR DMDM; 327478595; -.
DR jPOST; Q9Y2G4; -.
DR MassIVE; Q9Y2G4; -.
DR PaxDb; Q9Y2G4; -.
DR PeptideAtlas; Q9Y2G4; -.
DR PRIDE; Q9Y2G4; -.
DR ProteomicsDB; 85765; -. [Q9Y2G4-2]
DR ProteomicsDB; 85766; -. [Q9Y2G4-1]
DR ProteomicsDB; 85767; -. [Q9Y2G4-3]
DR ProteomicsDB; 85768; -. [Q9Y2G4-4]
DR Antibodypedia; 54806; 105 antibodies from 19 providers.
DR DNASU; 22881; -.
DR Ensembl; ENST00000339746.9; ENSP00000345767.4; ENSG00000135299.17. [Q9Y2G4-2]
DR Ensembl; ENST00000369408.9; ENSP00000358416.5; ENSG00000135299.17. [Q9Y2G4-1]
DR Ensembl; ENST00000447838.6; ENSP00000396771.2; ENSG00000135299.17. [Q9Y2G4-3]
DR Ensembl; ENST00000520793.5; ENSP00000429782.1; ENSG00000135299.17. [Q9Y2G4-4]
DR Ensembl; ENST00000522441.5; ENSP00000430985.1; ENSG00000135299.17. [Q9Y2G4-2]
DR GeneID; 22881; -.
DR KEGG; hsa:22881; -.
DR MANE-Select; ENST00000339746.9; ENSP00000345767.4; NM_001242809.2; NP_001229738.1.
DR UCSC; uc003pne.5; human. [Q9Y2G4-2]
DR CTD; 22881; -.
DR DisGeNET; 22881; -.
DR GeneCards; ANKRD6; -.
DR HGNC; HGNC:17280; ANKRD6.
DR HPA; ENSG00000135299; Tissue enhanced (brain).
DR MIM; 610583; gene.
DR neXtProt; NX_Q9Y2G4; -.
DR OpenTargets; ENSG00000135299; -.
DR PharmGKB; PA24807; -.
DR VEuPathDB; HostDB:ENSG00000135299; -.
DR eggNOG; KOG0504; Eukaryota.
DR GeneTree; ENSGT00940000155887; -.
DR HOGENOM; CLU_027072_0_0_1; -.
DR InParanoid; Q9Y2G4; -.
DR PhylomeDB; Q9Y2G4; -.
DR TreeFam; TF332587; -.
DR PathwayCommons; Q9Y2G4; -.
DR SignaLink; Q9Y2G4; -.
DR SIGNOR; Q9Y2G4; -.
DR BioGRID-ORCS; 22881; 7 hits in 1074 CRISPR screens.
DR ChiTaRS; ANKRD6; human.
DR GenomeRNAi; 22881; -.
DR Pharos; Q9Y2G4; Tbio.
DR PRO; PR:Q9Y2G4; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; Q9Y2G4; protein.
DR Bgee; ENSG00000135299; Expressed in blood vessel layer and 190 other tissues.
DR ExpressionAtlas; Q9Y2G4; baseline and differential.
DR Genevisible; Q9Y2G4; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0043231; C:intracellular membrane-bounded organelle; IDA:HPA.
DR GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR GO; GO:0090090; P:negative regulation of canonical Wnt signaling pathway; IBA:GO_Central.
DR GO; GO:0046330; P:positive regulation of JNK cascade; IBA:GO_Central.
DR GO; GO:2000096; P:positive regulation of Wnt signaling pathway, planar cell polarity pathway; IEA:Ensembl.
DR Gene3D; 1.25.40.20; -; 4.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR Pfam; PF12796; Ank_2; 2.
DR Pfam; PF13637; Ank_4; 1.
DR Pfam; PF13857; Ank_5; 1.
DR PRINTS; PR01415; ANKYRIN.
DR SMART; SM00248; ANK; 8.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 6.
PE 2: Evidence at transcript level;
KW Alternative splicing; ANK repeat; Coiled coil; Reference proteome; Repeat.
FT CHAIN 1..727
FT /note="Ankyrin repeat domain-containing protein 6"
FT /id="PRO_0000066901"
FT REPEAT 9..38
FT /note="ANK 1"
FT REPEAT 41..70
FT /note="ANK 2"
FT REPEAT 74..103
FT /note="ANK 3"
FT REPEAT 107..136
FT /note="ANK 4"
FT REPEAT 140..169
FT /note="ANK 5"
FT REPEAT 173..202
FT /note="ANK 6"
FT REPEAT 206..235
FT /note="ANK 7"
FT REPEAT 239..268
FT /note="ANK 8"
FT REGION 277..386
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 548..586
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 601..657
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 417..446
FT /evidence="ECO:0000255"
FT COILED 682..727
FT /evidence="ECO:0000255"
FT COMPBIAS 277..292
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 294..310
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 312..345
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 365..379
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 565..586
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 611..657
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 106..138
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043189"
FT VAR_SEQ 239..264
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043190"
FT VAR_SEQ 265..299
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:10231032"
FT /id="VSP_000270"
FT VAR_SEQ 534..538
FT /note="Missing (in isoform 3 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_031591"
FT VARIANT 122
FT /note="Q -> E (in dbSNP:rs16881983)"
FT /id="VAR_039114"
FT VARIANT 128
FT /note="I -> V (in dbSNP:rs3748085)"
FT /evidence="ECO:0000269|PubMed:10231032,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005"
FT /id="VAR_039115"
FT VARIANT 233
FT /note="T -> M (in dbSNP:rs2273238)"
FT /id="VAR_039116"
FT VARIANT 545
FT /note="T -> A (in dbSNP:rs9362667)"
FT /id="VAR_039117"
FT VARIANT 550
FT /note="A -> T (in dbSNP:rs9362667)"
FT /id="VAR_055506"
FT CONFLICT 87
FT /note="N -> I (in Ref. 5; CAB55968)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 727 AA; 79971 MW; FACD861BDEEF1905 CRC64;
MSQQDAVAAL SERLLVAAYK GQTENVVQLI NKGARVAVTK HGRTPLHLAA NKGHLPVVQI
LLKAGCDLDV QDDGDQTALH RATVVGNTEI IAALIHEGCA LDRQDKDGNT ALHEASWHGF
SQSAKLLIKA GANVLAKNKA GNTALHLACQ NSHSQSTRVL LLAGSRADLK NNAGDTCLHV
AARYNHLSII RLLLTAFCSV HEKNQAGDTA LHVAAALNHK KVAKILLEAG ADTTIVNNAG
QTPLETARYH NNPEVALLLT KAPQVLRFSR GRSLRKKRER LKEERRAQSV PRDEVAQSKG
SVSAGDTPSS EQAVARKEEA REEFLSASPE PRAKDDRRRK SRPKVSAFSD PTPPADQQPG
HQKNLHAHNH PKKRNRHRCS SPPPPHEFRA YQLYTLYRGK DGKVMQAPIN GCRCEPLINK
LENQLEATVE EIKAELGSVQ DKMNTKLGQM ENKTQHQMRV LDKLMVERLS AERTECLNRL
QQHSDTEKHE GEKRQISLVD ELKTWCMLKI QNLEQKLSGD SRACRAKSTP STCESSTGVD
QLVVTAGPAA ASDSSPPVVR PKEKALNSTA TQRLQQELSS SDCTGSRLRN VKVQTALLPM
NEAARSDQQA GPCVNRGTQT KKSGKSGPTR HRAQQPAASS TCGQPPPATG SEQTGPHIRD
TSQALELTQY FFEAVSTQME KWYERKIEEA RSQANQKAQQ DKATLKEHIK SLEEELAKLR
TRVQKEN
