ANKE1_HUMAN
ID ANKE1_HUMAN Reviewed; 776 AA.
AC Q9NU02; B3KUQ0; Q9H6Y9;
DT 23-JAN-2002, integrated into UniProtKB/Swiss-Prot.
DT 01-JUN-2001, sequence version 2.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Ankyrin repeat and EF-hand domain-containing protein 1;
DE AltName: Full=Ankyrin repeat domain-containing protein 5;
GN Name=ANKEF1; Synonyms=ANKRD5;
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].
RC TISSUE=Colon, and 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=11780052; DOI=10.1038/414865a;
RA Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R.,
RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L.,
RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P.,
RA Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D.,
RA Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G.,
RA Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E.,
RA Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D.,
RA Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P.,
RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E.,
RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J.,
RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D.,
RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S.,
RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D.,
RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A.,
RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T.,
RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I.,
RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M.,
RA Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D.,
RA Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M.,
RA Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A.,
RA Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L.,
RA Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L.,
RA Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 20.";
RL Nature 414:865-871(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP VARIANT [LARGE SCALE ANALYSIS] ASN-694.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- INTERACTION:
CC Q9NU02; P55212: CASP6; NbExp=3; IntAct=EBI-8464238, EBI-718729;
CC Q9NU02; P06307: CCK; NbExp=3; IntAct=EBI-8464238, EBI-6624398;
CC Q9NU02; Q8N2M8: CLASRP; NbExp=3; IntAct=EBI-8464238, EBI-751069;
CC Q9NU02; Q8NI60: COQ8A; NbExp=3; IntAct=EBI-8464238, EBI-745535;
CC Q9NU02; P13473-2: LAMP2; NbExp=3; IntAct=EBI-8464238, EBI-21591415;
CC Q9NU02; P07237: P4HB; NbExp=3; IntAct=EBI-8464238, EBI-395883;
CC Q9NU02; O75400-2: PRPF40A; NbExp=3; IntAct=EBI-8464238, EBI-5280197;
CC Q9NU02; Q9Y371: SH3GLB1; NbExp=3; IntAct=EBI-8464238, EBI-2623095;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15111.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AK025322; BAB15111.1; ALT_INIT; mRNA.
DR EMBL; AK097689; BAG53512.1; -; mRNA.
DR EMBL; AL109754; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471133; EAX10355.1; -; Genomic_DNA.
DR CCDS; CCDS13108.1; -.
DR RefSeq; NP_001290401.1; NM_001303472.1.
DR RefSeq; NP_071379.3; NM_022096.5.
DR RefSeq; NP_942093.1; NM_198798.2.
DR AlphaFoldDB; Q9NU02; -.
DR SMR; Q9NU02; -.
DR BioGRID; 121995; 11.
DR IntAct; Q9NU02; 13.
DR MINT; Q9NU02; -.
DR STRING; 9606.ENSP00000367631; -.
DR iPTMnet; Q9NU02; -.
DR PhosphoSitePlus; Q9NU02; -.
DR BioMuta; ANKEF1; -.
DR DMDM; 20137528; -.
DR MassIVE; Q9NU02; -.
DR MaxQB; Q9NU02; -.
DR PaxDb; Q9NU02; -.
DR PeptideAtlas; Q9NU02; -.
DR PRIDE; Q9NU02; -.
DR ProteomicsDB; 82647; -.
DR Antibodypedia; 35178; 100 antibodies from 15 providers.
DR DNASU; 63926; -.
DR Ensembl; ENST00000378380.4; ENSP00000367631.3; ENSG00000132623.16.
DR Ensembl; ENST00000378392.6; ENSP00000367644.1; ENSG00000132623.16.
DR GeneID; 63926; -.
DR KEGG; hsa:63926; -.
DR MANE-Select; ENST00000378392.6; ENSP00000367644.1; NM_022096.6; NP_071379.3.
DR UCSC; uc002wno.4; human.
DR CTD; 63926; -.
DR DisGeNET; 63926; -.
DR GeneCards; ANKEF1; -.
DR HGNC; HGNC:15803; ANKEF1.
DR HPA; ENSG00000132623; Tissue enhanced (pancreas, testis).
DR neXtProt; NX_Q9NU02; -.
DR OpenTargets; ENSG00000132623; -.
DR PharmGKB; PA24806; -.
DR VEuPathDB; HostDB:ENSG00000132623; -.
DR eggNOG; KOG4177; Eukaryota.
DR GeneTree; ENSGT00940000156852; -.
DR HOGENOM; CLU_020261_0_0_1; -.
DR InParanoid; Q9NU02; -.
DR OMA; EHKTPRA; -.
DR OrthoDB; 329492at2759; -.
DR PhylomeDB; Q9NU02; -.
DR TreeFam; TF351260; -.
DR PathwayCommons; Q9NU02; -.
DR SignaLink; Q9NU02; -.
DR BioGRID-ORCS; 63926; 12 hits in 1072 CRISPR screens.
DR GenomeRNAi; 63926; -.
DR Pharos; Q9NU02; Tdark.
DR PRO; PR:Q9NU02; -.
DR Proteomes; UP000005640; Chromosome 20.
DR RNAct; Q9NU02; protein.
DR Bgee; ENSG00000132623; Expressed in sperm and 155 other tissues.
DR Genevisible; Q9NU02; HS.
DR GO; GO:0005509; F:calcium ion binding; IEA:InterPro.
DR Gene3D; 1.25.40.20; -; 3.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR011992; EF-hand-dom_pair.
DR InterPro; IPR002048; EF_hand_dom.
DR Pfam; PF00023; Ank; 1.
DR Pfam; PF12796; Ank_2; 2.
DR Pfam; PF13637; Ank_4; 1.
DR PRINTS; PR01415; ANKYRIN.
DR SMART; SM00248; ANK; 11.
DR SUPFAM; SSF47473; SSF47473; 1.
DR SUPFAM; SSF48403; SSF48403; 2.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 6.
DR PROSITE; PS50222; EF_HAND_2; 1.
PE 1: Evidence at protein level;
KW ANK repeat; Reference proteome; Repeat.
FT CHAIN 1..776
FT /note="Ankyrin repeat and EF-hand domain-containing protein
FT 1"
FT /id="PRO_0000066899"
FT REPEAT 47..76
FT /note="ANK 1"
FT REPEAT 184..213
FT /note="ANK 2"
FT REPEAT 217..246
FT /note="ANK 3"
FT REPEAT 250..279
FT /note="ANK 4"
FT DOMAIN 335..369
FT /note="EF-hand"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00448"
FT REPEAT 524..553
FT /note="ANK 5"
FT REPEAT 557..586
FT /note="ANK 6"
FT REPEAT 590..619
FT /note="ANK 7"
FT REPEAT 623..652
FT /note="ANK 8"
FT VARIANT 74
FT /note="P -> T (in dbSNP:rs7260784)"
FT /id="VAR_033500"
FT VARIANT 324
FT /note="L -> Q (in dbSNP:rs652633)"
FT /id="VAR_024172"
FT VARIANT 412
FT /note="G -> E (in dbSNP:rs524625)"
FT /id="VAR_033501"
FT VARIANT 694
FT /note="K -> N (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035609"
FT VARIANT 742
FT /note="R -> Q (in dbSNP:rs6087119)"
FT /id="VAR_033502"
SQ SEQUENCE 776 AA; 86664 MW; 2F71F35AC4D337B6 CRC64;
MALADKRLEN LQIYKVLQCV RNKDKKQIEK LTKLGYPELI NYTEPINGLS ALHLASVSND
IDMVSFLLDL GAHPDVQDRM GCTPTMRAAE LGHELSMEIL AKAKADMTIV DNEGKGVLFY
CILPTKRHYR CALIALEHGA DVNNSTYEGK PIFLRACEDA HDVKDVCLTF LEKGANPNAI
NSSTGRTALM EASREGVVEI VRGILERGGE VNAFDNDRHH AAHFAAKGGF FDILKLLFAY
NGDVGLISIN GNTPLHYAAM GGFADCCKYI AQRGCDLKWK NLDHKTPRAV AKEGGFKAAS
KEIRRAERIA NKLARPGAKN PNPLWALRLH DWSVEREAFL REAFAVLDRG DGSISKNDFV
MVLEERQDYA SSEQLAAIAH LHEKTRGGGV NINEFFKGTR YLNKSFVLGS YGPKKKEKGM
GKKGKKGKFV LPLPICVIPE YAFPRRQDGG PPYYMIETYK NVTDSSRFNR DHPPEHPIQD
DSVWYIDDSE KVFSNINIIT KAGDLASLKK AFESGIPVDM KDNYYKTPLM TACASGNIDV
VKFLLEKGAN VNATDNFLWT PLHFACHAGQ QDIVELLVES GALIDAASIN NSTPLNRAIE
SCRLDTVKYL LDIGAKFQLE NRKGHSAMDV AKAYADYRII DLIKEKLDNL PKPAENQKLK
GKTPPILKTE GPEIKKEEEL LSSIYGVPTT SEGKKVQKGN VVHLNSLITS GYTKKVDITF
IPRRIWSPEA TTAELIRKRE LRRERFTHEV DFDDFMMPFQ KNITEKARAL EAALKT
