ANKAR_HUMAN
ID ANKAR_HUMAN Reviewed; 1434 AA.
AC Q7Z5J8; Q3ZCS6; Q4G0M2; Q6ZU02;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2010, sequence version 3.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Ankyrin and armadillo repeat-containing protein;
GN Name=ANKAR;
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).
RC TISSUE=Testis;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
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 [4]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 72-1434 (ISOFORM 1), ALTERNATIVE SPLICING,
RP TISSUE SPECIFICITY, AND VARIANT PHE-1077.
RC TISSUE=Heart;
RX PubMed=15110750; DOI=10.1016/j.bbrc.2004.03.186;
RA Occhi G., Olivieri M., Rampazzo A., Danieli G.A.;
RT "Characterization of a novel human gene containing ANK repeats and ARM
RT domains.";
RL Biochem. Biophys. Res. Commun. 318:38-45(2004).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Single-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1; Synonyms=FLJ25415-2P;
CC IsoId=Q7Z5J8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q7Z5J8-2; Sequence=VSP_025173, VSP_025174;
CC Name=3;
CC IsoId=Q7Z5J8-3; Sequence=VSP_025167, VSP_025170, VSP_025171,
CC VSP_025172;
CC Name=4;
CC IsoId=Q7Z5J8-4; Sequence=VSP_025166, VSP_025168, VSP_025169;
CC -!- TISSUE SPECIFICITY: Ubiquitously expressed with highest level in
CC pancreas and lowest in skeletal muscle. {ECO:0000269|PubMed:15110750}.
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DR EMBL; AK126073; BAC86425.1; -; mRNA.
DR EMBL; AC012488; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC013468; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC044907; AAH44907.1; -; mRNA.
DR EMBL; BC047413; AAH47413.1; -; mRNA.
DR EMBL; AJ549812; CAD71147.1; -; mRNA.
DR CCDS; CCDS33351.2; -. [Q7Z5J8-1]
DR RefSeq; NP_653309.3; NM_144708.3. [Q7Z5J8-1]
DR RefSeq; XP_011508976.1; XM_011510674.1.
DR AlphaFoldDB; Q7Z5J8; -.
DR SMR; Q7Z5J8; -.
DR BioGRID; 127319; 2.
DR IntAct; Q7Z5J8; 1.
DR STRING; 9606.ENSP00000427882; -.
DR iPTMnet; Q7Z5J8; -.
DR PhosphoSitePlus; Q7Z5J8; -.
DR BioMuta; ANKAR; -.
DR DMDM; 308153635; -.
DR jPOST; Q7Z5J8; -.
DR MassIVE; Q7Z5J8; -.
DR PaxDb; Q7Z5J8; -.
DR PeptideAtlas; Q7Z5J8; -.
DR PRIDE; Q7Z5J8; -.
DR ProteomicsDB; 69307; -. [Q7Z5J8-1]
DR ProteomicsDB; 69308; -. [Q7Z5J8-2]
DR ProteomicsDB; 69309; -. [Q7Z5J8-3]
DR ProteomicsDB; 69310; -. [Q7Z5J8-4]
DR Antibodypedia; 52164; 7 antibodies from 6 providers.
DR DNASU; 150709; -.
DR Ensembl; ENST00000313581.4; ENSP00000313513.4; ENSG00000151687.15. [Q7Z5J8-1]
DR Ensembl; ENST00000441800.5; ENSP00000407459.1; ENSG00000151687.15. [Q7Z5J8-3]
DR Ensembl; ENST00000520309.5; ENSP00000427882.1; ENSG00000151687.15. [Q7Z5J8-1]
DR Ensembl; ENST00000684021.1; ENSP00000507233.1; ENSG00000151687.15. [Q7Z5J8-1]
DR GeneID; 150709; -.
DR KEGG; hsa:150709; -.
DR MANE-Select; ENST00000684021.1; ENSP00000507233.1; NM_001378068.1; NP_001364997.1.
DR UCSC; uc002uqw.3; human. [Q7Z5J8-1]
DR CTD; 150709; -.
DR GeneCards; ANKAR; -.
DR HGNC; HGNC:26350; ANKAR.
DR HPA; ENSG00000151687; Tissue enriched (testis).
DR MIM; 609803; gene.
DR neXtProt; NX_Q7Z5J8; -.
DR OpenTargets; ENSG00000151687; -.
DR PharmGKB; PA145149868; -.
DR VEuPathDB; HostDB:ENSG00000151687; -.
DR eggNOG; KOG4177; Eukaryota.
DR GeneTree; ENSGT00680000100065; -.
DR HOGENOM; CLU_006481_1_0_1; -.
DR InParanoid; Q7Z5J8; -.
DR OMA; FMGLFKT; -.
DR OrthoDB; 81957at2759; -.
DR PhylomeDB; Q7Z5J8; -.
DR TreeFam; TF324155; -.
DR PathwayCommons; Q7Z5J8; -.
DR SignaLink; Q7Z5J8; -.
DR BioGRID-ORCS; 150709; 11 hits in 1067 CRISPR screens.
DR ChiTaRS; ANKAR; human.
DR GenomeRNAi; 150709; -.
DR Pharos; Q7Z5J8; Tdark.
DR PRO; PR:Q7Z5J8; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q7Z5J8; protein.
DR Bgee; ENSG00000151687; Expressed in calcaneal tendon and 99 other tissues.
DR ExpressionAtlas; Q7Z5J8; baseline and differential.
DR Genevisible; Q7Z5J8; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR Gene3D; 1.25.10.10; -; 4.
DR Gene3D; 1.25.40.20; -; 1.
DR InterPro; IPR043379; ANKAR.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR011989; ARM-like.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR000225; Armadillo.
DR PANTHER; PTHR46464; PTHR46464; 1.
DR Pfam; PF00514; Arm; 1.
DR SMART; SM00248; ANK; 5.
DR SMART; SM00185; ARM; 9.
DR SUPFAM; SSF48371; SSF48371; 2.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 2.
DR PROSITE; PS50176; ARM_REPEAT; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ANK repeat; Membrane; Reference proteome; Repeat;
KW Transmembrane; Transmembrane helix.
FT CHAIN 1..1434
FT /note="Ankyrin and armadillo repeat-containing protein"
FT /id="PRO_0000286806"
FT TRANSMEM 309..329
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REPEAT 532..561
FT /note="ANK 1"
FT REPEAT 569..598
FT /note="ANK 2"
FT REPEAT 602..631
FT /note="ANK 3"
FT REPEAT 638..667
FT /note="ANK 4"
FT REPEAT 671..701
FT /note="ANK 5"
FT REPEAT 732..771
FT /note="ARM 1"
FT REPEAT 773..812
FT /note="ARM 2"
FT REPEAT 814..852
FT /note="ARM 3"
FT REPEAT 855..894
FT /note="ARM 4"
FT REPEAT 897..936
FT /note="ARM 5"
FT REPEAT 1072..1112
FT /note="ARM 6"
FT VAR_SEQ 1..332
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025166"
FT VAR_SEQ 1..236
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025167"
FT VAR_SEQ 706..716
FT /note="VEMLQCESYKR -> KCYSVKAINEG (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025168"
FT VAR_SEQ 717..1434
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025169"
FT VAR_SEQ 878
FT /note="S -> SGLFNLFLNSFE (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025170"
FT VAR_SEQ 1012..1026
FT /note="GEAVIALSKDSRMHQ -> YLLKSRLCINTFCLQ (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025171"
FT VAR_SEQ 1027..1434
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_025172"
FT VAR_SEQ 1066..1080
FT /note="VAHTSNPVSQQLVVD -> YLLKSRLCINTFCLQ (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025173"
FT VAR_SEQ 1081..1434
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_025174"
FT VARIANT 675
FT /note="I -> V (in dbSNP:rs16831887)"
FT /id="VAR_032164"
FT VARIANT 1077
FT /note="L -> F (in dbSNP:rs1225090)"
FT /evidence="ECO:0000269|PubMed:15110750"
FT /id="VAR_032165"
FT CONFLICT 8
FT /note="G -> R (in Ref. 1; BAC86425)"
FT /evidence="ECO:0000305"
FT CONFLICT 207
FT /note="K -> R (in Ref. 1; BAC86425)"
FT /evidence="ECO:0000305"
FT CONFLICT 436
FT /note="S -> G (in Ref. 3; AAH47413)"
FT /evidence="ECO:0000305"
FT CONFLICT 623
FT /note="C -> Y (in Ref. 3; AAH47413)"
FT /evidence="ECO:0000305"
FT CONFLICT 679
FT /note="S -> L (in Ref. 3; AAH47413)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1434 AA; 162026 MW; E8011736C96C1EC5 CRC64;
MLRLPKKGLP RFEQVQDEDT YLENLAIQRN ASAFFEKYDR SEIQELLTTA LVSWLSAKED
VRSQVDLPCG IMSQMNNVGF STAILLTPVD PTALLDYREV HQMIRELAIG IYCLNQIPSI
SLEANYDQSS SCQLPPAYYD TRIGQILINI DYMLKALWHG IYMPKEKRAR FSELWRAIMD
IDPDGKPQTN KDIFSEFSSA GLTDITKDPD FNEIYDEDVN EDPTYDPNSP EETAVFMKYA
ENIMLKLTFS TTQIQQYENV FIFETGYWLT NAIKYNQDYL DICTYQRLQQ RLYLQKKIIQ
KHFEKKKDIR RGIGYLKLIC FLIPFLLSLK KKMKVPYLSS LLQPFSDDKV KTERELPPFI
YGRDFKCQNF HYKENQYFHV HGGIEFDIST PSIENALEDF QKNLEKIRDC AANTFIEDSG
YKEYYSIPVM EFHGKSYYVI YFELETFYQQ LYKTQWWGAI NEIVNNLRLK RLPLTDAQLH
EQFKKKLGFK RAMKCKSIPF GMKSAVERGL SAVFHTFSRK TSSSTINVSD EAGYTIFHHA
ALHNRVSIIC QLCNANFKVN QRRFVTFSQG PTPLHLAAQA CSLETTVCLL CSKADYTLSE
KRGWMPIHFA AFYDNVCIII ALCRKDPSLL EAEATAENQC TPLLLAATSG ALDTIQYLFS
IGANWRKTDI KGNNIIHLSV LTFHTEVLKY IIKLNIPELP VWKTLVEMLQ CESYKRRMMA
VMSLEVICLA NDQYWRCILD AGTIPALINL LKSSKIKLQC KTVGLLSNIS THKSAVHALV
EAGGIPSLIN LLVCDEPEVH SRCAVILYDI AQCENKDVIA KYNGIPSLIN LLNLNIENVL
VNVMNCIRVL CIGNENNQRA VREHKGLPYL IRFLSSDSDV LKAVSSAAIA EVGRDNKEIQ
DAIAMEGAIP PLVALFKGKQ ISVQMKGAMA VESLASHNAL IQKAFLEKSL TKYLLKLLKA
FQIDVKEQGA VALWALAGQT LKQQKYMAEQ IGYSFIINML LSPSAKMQYV GGEAVIALSK
DSRMHQNQIC EGNGIAPLVR LLRISTIAEG TLLSVIRAVG SICIGVAHTS NPVSQQLVVD
ENAFPVLIQL LRNHPSPNIK VEVAFSLACI VLGNDVLQKD LHENEGFEYA DVLYLLHSTE
KDICLRAGYA LTLFAFNNRF QQYLILESGI MTISIFERFL ESTVETEKAM AAFQIVVLAK
VIRDMDHITL SARGVTILVD SLYSVQTSTI VLTGNLIASL AHSRAGIPEA FTTLGTIQRL
CYHLYSGIEE VRAACSSALG YLTYNANAFR ILLKECRNKP NQFIRIKNNI SRDASINPAF
LKEFQMQQTL VGLPSLSLEK NGGPSIIPIF KRGKEHRRKL KPKIQPKDSL TLLPPVTNFM
GLFKATKKTK DSHNIFSFSS TITSDITNVS RPRIVCLNQL GKHVQKANPE PAEG
