ANR29_HUMAN
ID ANR29_HUMAN Reviewed; 301 AA.
AC Q8N6D5; B2R972; Q6ZWE8; Q96LU9;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 27-JUN-2006, sequence version 2.
DT 03-AUG-2022, entry version 142.
DE RecName: Full=Ankyrin repeat domain-containing protein 29;
GN Name=ANKRD29;
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] (ISOFORMS 1 AND 3).
RC TISSUE=Brain, and Cerebellum;
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=16177791; DOI=10.1038/nature03983;
RA Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 18.";
RL Nature 437:551-555(2005).
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT GLU-112.
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 VARIANT [LARGE SCALE ANALYSIS] MET-95.
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 Q8N6D5; Q9NPB3: CABP2; NbExp=3; IntAct=EBI-17439331, EBI-12011224;
CC Q8N6D5; Q9BSW2: CRACR2A; NbExp=3; IntAct=EBI-17439331, EBI-739773;
CC Q8N6D5; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-17439331, EBI-6658203;
CC Q8N6D5; Q86UX7-2: FERMT3; NbExp=3; IntAct=EBI-17439331, EBI-12915620;
CC Q8N6D5; Q6ZYL4: GTF2H5; NbExp=3; IntAct=EBI-17439331, EBI-6380438;
CC Q8N6D5; P02724: GYPA; NbExp=3; IntAct=EBI-17439331, EBI-702665;
CC Q8N6D5; P50747: HLCS; NbExp=3; IntAct=EBI-17439331, EBI-3915568;
CC Q8N6D5; Q96EL3: MRPL53; NbExp=3; IntAct=EBI-17439331, EBI-2513715;
CC Q8N6D5; Q9UJ41-4: RABGEF1; NbExp=3; IntAct=EBI-17439331, EBI-14093916;
CC Q8N6D5; Q8NFA0-2: USP32; NbExp=3; IntAct=EBI-17439331, EBI-12220239;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8N6D5-1; Sequence=Displayed;
CC Name=3;
CC IsoId=Q8N6D5-3; Sequence=VSP_019488;
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC85555.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};
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DR EMBL; AK057782; BAB71569.1; -; mRNA.
DR EMBL; AK123197; BAC85555.1; ALT_SEQ; mRNA.
DR EMBL; AK313667; BAG36419.1; -; mRNA.
DR EMBL; AC010853; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471088; EAX01160.1; -; Genomic_DNA.
DR EMBL; BC030622; AAH30622.1; -; mRNA.
DR CCDS; CCDS11879.1; -. [Q8N6D5-1]
DR CCDS; CCDS77164.1; -. [Q8N6D5-3]
DR RefSeq; NP_001295167.1; NM_001308238.1. [Q8N6D5-3]
DR RefSeq; NP_775776.2; NM_173505.3. [Q8N6D5-1]
DR AlphaFoldDB; Q8N6D5; -.
DR SMR; Q8N6D5; -.
DR BioGRID; 127061; 18.
DR IntAct; Q8N6D5; 17.
DR STRING; 9606.ENSP00000468354; -.
DR iPTMnet; Q8N6D5; -.
DR PhosphoSitePlus; Q8N6D5; -.
DR BioMuta; ANKRD29; -.
DR DMDM; 109940219; -.
DR MassIVE; Q8N6D5; -.
DR PaxDb; Q8N6D5; -.
DR PeptideAtlas; Q8N6D5; -.
DR PRIDE; Q8N6D5; -.
DR ProteomicsDB; 72160; -. [Q8N6D5-1]
DR ProteomicsDB; 72161; -. [Q8N6D5-3]
DR Antibodypedia; 22055; 23 antibodies from 11 providers.
DR DNASU; 147463; -.
DR Ensembl; ENST00000322980.13; ENSP00000323387.9; ENSG00000154065.17. [Q8N6D5-3]
DR Ensembl; ENST00000592179.6; ENSP00000468354.1; ENSG00000154065.17. [Q8N6D5-1]
DR GeneID; 147463; -.
DR KEGG; hsa:147463; -.
DR MANE-Select; ENST00000592179.6; ENSP00000468354.1; NM_173505.4; NP_775776.2.
DR UCSC; uc002kun.4; human. [Q8N6D5-1]
DR CTD; 147463; -.
DR DisGeNET; 147463; -.
DR GeneCards; ANKRD29; -.
DR HGNC; HGNC:27110; ANKRD29.
DR HPA; ENSG00000154065; Low tissue specificity.
DR neXtProt; NX_Q8N6D5; -.
DR OpenTargets; ENSG00000154065; -.
DR PharmGKB; PA134948058; -.
DR VEuPathDB; HostDB:ENSG00000154065; -.
DR eggNOG; KOG0504; Eukaryota.
DR GeneTree; ENSGT00940000153902; -.
DR HOGENOM; CLU_000134_18_0_1; -.
DR InParanoid; Q8N6D5; -.
DR OMA; CKDSYGT; -.
DR OrthoDB; 1374335at2759; -.
DR PhylomeDB; Q8N6D5; -.
DR PathwayCommons; Q8N6D5; -.
DR SignaLink; Q8N6D5; -.
DR BioGRID-ORCS; 147463; 14 hits in 1021 CRISPR screens.
DR ChiTaRS; ANKRD29; human.
DR GenomeRNAi; 147463; -.
DR Pharos; Q8N6D5; Tdark.
DR PRO; PR:Q8N6D5; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q8N6D5; protein.
DR Bgee; ENSG00000154065; Expressed in right lung and 159 other tissues.
DR ExpressionAtlas; Q8N6D5; baseline and differential.
DR Genevisible; Q8N6D5; HS.
DR Gene3D; 1.25.40.20; -; 2.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
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; 8.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 6.
PE 1: Evidence at protein level;
KW Alternative splicing; ANK repeat; Reference proteome; Repeat.
FT CHAIN 1..301
FT /note="Ankyrin repeat domain-containing protein 29"
FT /id="PRO_0000243903"
FT REPEAT 11..41
FT /note="ANK 1"
FT REPEAT 45..74
FT /note="ANK 2"
FT REPEAT 78..107
FT /note="ANK 3"
FT REPEAT 111..140
FT /note="ANK 4"
FT REPEAT 144..173
FT /note="ANK 5"
FT REPEAT 177..206
FT /note="ANK 6"
FT REPEAT 210..239
FT /note="ANK 7"
FT REPEAT 242..271
FT /note="ANK 8"
FT VAR_SEQ 242..274
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_019488"
FT VARIANT 95
FT /note="V -> M (in a breast cancer sample; somatic mutation;
FT dbSNP:rs767831283)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035610"
FT VARIANT 112
FT /note="G -> E (in dbSNP:rs17855552)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_026869"
SQ SEQUENCE 301 AA; 32442 MW; 26B553175F6E2ED1 CRC64;
MCRMSFKKET PLANAAFWAA RRGNLALLKL LLNSGRVDVD CRDSHGTTLL MVAAYAGHID
CVRELVLQGA DINLQRESGT TALFFAAQQG HNDVVRFLFG FGASTEFRTK DGGTALLAAS
QYGHMQVVET LLKHGANIHD QLYDGATALF LAAQGGYLDV IRLLLASGAK VNQPRQDGTA
PLWIASQMGH SEVVRVMLLR GADRDAARND GTTALLKAAN KGYNDVIKEL LKFSPTLGIL
KNGTSALHAA VLSGNIKTVA LLLEAGADPS LRNKANELPA ELTKNERILR LLRSKEGPRK
S
