ID ANR35_HUMAN Reviewed; 1001 AA. AC Q8N283; A6NEU0; B4DL62; Q3MJ10; Q96LS3; DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot. DT 28-JUN-2023, sequence version 3. DT 27-MAR-2024, entry version 146. DE RecName: Full=Ankyrin repeat domain-containing protein 35; GN Name=ANKRD35; 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 1), AND VARIANTS SER-428; RP ARG-592 AND GLU-661. RC TISSUE=Brain, and Tongue; 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=16710414; DOI=10.1038/nature04727; RA Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., RA Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., RA Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K., RA Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., RA Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., RA Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., RA Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., RA Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., RA Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., RA Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., RA Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., RA Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., RA Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., RA Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., RA Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., RA Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., RA Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., RA Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., RA Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., RA McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., RA Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., RA Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., RA Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., RA Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., RA Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., RA White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., RA Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., RA Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., RA Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.; RT "The DNA sequence and biological annotation of human chromosome 1."; RL Nature 441:315-321(2006). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT RP SER-428. RC TISSUE=Heart, Lung, and Tongue; 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). CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=2; CC Name=1; CC IsoId=Q8N283-1; Sequence=Displayed; CC Name=2; CC IsoId=Q8N283-2; Sequence=VSP_056916, VSP_056917; CC -!- SEQUENCE CAUTION: CC Sequence=BAB71597.1; Type=Erroneous initiation; 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; AK057853; BAB71597.1; ALT_INIT; mRNA. DR EMBL; AK091120; BAC03587.1; -; mRNA. DR EMBL; AK296861; BAG59424.1; -; mRNA. DR EMBL; AL160282; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; BC101618; AAI01619.1; -; mRNA. DR EMBL; BC101620; AAI01621.1; -; mRNA. DR CCDS; CCDS72867.1; -. [Q8N283-1] DR RefSeq; NP_653299.4; NM_144698.4. [Q8N283-1] DR AlphaFoldDB; Q8N283; -. DR SMR; Q8N283; -. DR BioGRID; 127165; 11. DR IntAct; Q8N283; 11. DR MINT; Q8N283; -. DR STRING; 9606.ENSP00000347802; -. DR GlyGen; Q8N283; 4 sites, 1 O-linked glycan (4 sites). DR iPTMnet; Q8N283; -. DR PhosphoSitePlus; Q8N283; -. DR BioMuta; ANKRD35; -. DR DMDM; 109940222; -. DR EPD; Q8N283; -. DR MassIVE; Q8N283; -. DR MaxQB; Q8N283; -. DR PaxDb; 9606-ENSP00000347802; -. DR PeptideAtlas; Q8N283; -. DR ProteomicsDB; 71667; -. [Q8N283-1] DR Pumba; Q8N283; -. DR Antibodypedia; 49637; 13 antibodies from 8 providers. DR DNASU; 148741; -. DR Ensembl; ENST00000355594.9; ENSP00000347802.4; ENSG00000198483.13. [Q8N283-1] DR GeneID; 148741; -. DR KEGG; hsa:148741; -. DR MANE-Select; ENST00000355594.9; ENSP00000347802.4; NM_144698.5; NP_653299.4. DR UCSC; uc001eob.2; human. [Q8N283-1] DR AGR; HGNC:26323; -. DR CTD; 148741; -. DR GeneCards; ANKRD35; -. DR HGNC; HGNC:26323; ANKRD35. DR HPA; ENSG00000198483; Tissue enhanced (skin). DR neXtProt; NX_Q8N283; -. DR OpenTargets; ENSG00000198483; -. DR PharmGKB; PA134896362; -. DR VEuPathDB; HostDB:ENSG00000198483; -. DR eggNOG; ENOG502QXWS; Eukaryota. DR GeneTree; ENSGT00530000063074; -. DR HOGENOM; CLU_298955_0_0_1; -. DR InParanoid; Q8N283; -. DR OMA; HGANEDC; -. DR OrthoDB; 5477337at2759; -. DR PhylomeDB; Q8N283; -. DR TreeFam; TF331274; -. DR PathwayCommons; Q8N283; -. DR SignaLink; Q8N283; -. DR BioGRID-ORCS; 148741; 18 hits in 1155 CRISPR screens. DR ChiTaRS; ANKRD35; human. DR GenomeRNAi; 148741; -. DR Pharos; Q8N283; Tdark. DR PRO; PR:Q8N283; -. DR Proteomes; UP000005640; Chromosome 1. DR RNAct; Q8N283; Protein. DR Bgee; ENSG00000198483; Expressed in upper arm skin and 185 other cell types or tissues. DR ExpressionAtlas; Q8N283; baseline and differential. DR Gene3D; 1.10.287.1490; -; 1. DR Gene3D; 1.25.40.20; Ankyrin repeat-containing domain; 2. DR InterPro; IPR002110; Ankyrin_rpt. DR InterPro; IPR036770; Ankyrin_rpt-contain_sf. DR PANTHER; PTHR24189; MYOTROPHIN; 1. DR PANTHER; PTHR24189:SF50; MYOTROPHIN-RELATED; 1. DR Pfam; PF12796; Ank_2; 2. DR PRINTS; PR01415; ANKYRIN. DR SMART; SM00248; ANK; 5. DR SUPFAM; SSF48403; Ankyrin repeat; 1. DR PROSITE; PS50297; ANK_REP_REGION; 1. DR PROSITE; PS50088; ANK_REPEAT; 5. DR Genevisible; Q8N283; HS. PE 2: Evidence at transcript level; KW Alternative splicing; ANK repeat; Coiled coil; Reference proteome; Repeat. FT CHAIN 1..1001 FT /note="Ankyrin repeat domain-containing protein 35" FT /id="PRO_0000243910" FT REPEAT 53..82 FT /note="ANK 1" FT REPEAT 86..115 FT /note="ANK 2" FT REPEAT 119..148 FT /note="ANK 3" FT REPEAT 152..181 FT /note="ANK 4" FT REPEAT 185..214 FT /note="ANK 5" FT REPEAT 218..247 FT /note="ANK 6" FT REGION 256..296 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 352..482 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 559..601 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 879..902 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COILED 295..344 FT /evidence="ECO:0000255" FT COILED 610..696 FT /evidence="ECO:0000255" FT COILED 733..810 FT /evidence="ECO:0000255" FT COILED 851..968 FT /evidence="ECO:0000255" FT COMPBIAS 256..272 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT COMPBIAS 423..453 FT /note="Polar residues" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VAR_SEQ 109..137 FT /note="HGANEDAVDAENRSPLHWAASSGCASSVL -> PPLAVPQVCSCCVTTKPSW FT TCWIMMDVHP (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_056916" FT VAR_SEQ 138..1001 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_056917" FT VARIANT 53 FT /note="N -> K (in dbSNP:rs6658371)" FT /id="VAR_048278" FT VARIANT 428 FT /note="P -> S (in dbSNP:rs6670984)" FT /evidence="ECO:0000269|PubMed:14702039, FT ECO:0000269|PubMed:15489334" FT /id="VAR_026870" FT VARIANT 592 FT /note="Q -> R (in dbSNP:rs41315701)" FT /evidence="ECO:0000269|PubMed:14702039" FT /id="VAR_061017" FT VARIANT 661 FT /note="Q -> E (in dbSNP:rs11579366)" FT /evidence="ECO:0000269|PubMed:14702039, FT ECO:0000269|PubMed:15489334" FT /id="VAR_087983" FT VARIANT 978 FT /note="N -> D (in dbSNP:rs16827032)" FT /id="VAR_033506" FT CONFLICT 188 FT /note="S -> A (in Ref. 1; BAB71597)" FT /evidence="ECO:0000305" FT CONFLICT 820 FT /note="E -> G (in Ref. 1; BAC03587)" FT /evidence="ECO:0000305" SQ SEQUENCE 1001 AA; 109937 MW; DE1DB2B8376778B8 CRC64; MKRIFSCSST QVAVERWNRH DQKLLEAVHR GDVGRVAALA SRKSARPTKL DSNGQSPFHL AASKGLTECL TILLANGADI NSKNEDGSTA LHLATISCQP QCVKVLLQHG ANEDAVDAEN RSPLHWAASS GCASSVLLLC DHEAFLDVLD NDGRTPLMIA SLGGHAAICS QLLQRGARVN VTDKNDKSAL ILACEKGSAE VAELLLSHGA DAGAVDSTGH DALHYALHTQ DKALWRHLQQ ALSRRRRGGQ RLVQHPDLAS QASPSEPQAG SPPKSSWRAE PEEEQEEKED EDPCSEEWRW KYEEERRKVV RLEQELVQKT EECKTQAAAY LDLENQIREQ AQELGVLLSW EPRASGKQGS SLRPGGDGME QGCPKDLLAE STQELKKQQQ AAATVNPVLA PKKAEDSAPG KIQYEVHGRS QPEEQGPPQS PASETIRKAT GQQLTTNGAQ TFGPDHADQL PAGQKESSQV LGVEPGGTVA EPVGPAAMNQ LLLQLREELA AVWREKDAAR GALSRPVMEG ALGTPRAEAA AAAWEKMEAR LERVLARLEW AKAGLQVKPE VPSQESREGA LKAAPGSIKQ DEEKEKRVPG AQGEPLGALG GEKALGGLAK GQLEKEMSVL RLSNSNLLEE LGELGRERQR LQRELQSLSQ RLQREFVPKP QAQVQLQQLR QSVGLLTNEL AMEKEATEKL RKLLASQSSG LRGLWDCLPA DLVGERSAQS KAAESLEELR ACISTLVDRH REAQQVLARL QEENQQLRGS LSPCREPGTS LKAPASPQVA ALEQDLGKLE EELRAVQATM SGKSQEIGKL KQLLYQATEE VAELRAREAA SLRQHEKTRG SLVAQAQAWG QELKALLEKY NTACREVGRL REAVAEERRR SGDLAAQAAE QERQASEMRG RSEQFEKTAE LLKEKMEHLI GACRDKEAKI KELLKKLEQL SEEVLAIRGE NARLALQLQD SQKNHEEIIS TYRNHLLNAA RGYMEHEVYN ILLQILSMEE E //