ANR35_HUMAN
ID ANR35_HUMAN Reviewed; 1001 AA.
AC Q8N283; A6NEU0; B4DL62; Q3MJ10; Q96LS3;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 27-JUN-2006, sequence version 2.
DT 03-AUG-2022, entry version 138.
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 VARIANT SER-428.
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};
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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.
DR AlphaFoldDB; Q8N283; -.
DR SMR; Q8N283; -.
DR BioGRID; 127165; 10.
DR IntAct; Q8N283; 11.
DR MINT; Q8N283; -.
DR STRING; 9606.ENSP00000347802; -.
DR iPTMnet; Q8N283; -.
DR PhosphoSitePlus; Q8N283; -.
DR BioMuta; ANKRD35; -.
DR DMDM; 109940222; -.
DR EPD; Q8N283; -.
DR MassIVE; Q8N283; -.
DR MaxQB; Q8N283; -.
DR PaxDb; Q8N283; -.
DR PeptideAtlas; Q8N283; -.
DR PRIDE; Q8N283; -.
DR ProteomicsDB; 4511; -.
DR ProteomicsDB; 71667; -. [Q8N283-1]
DR Antibodypedia; 49637; 12 antibodies from 7 providers.
DR DNASU; 148741; -.
DR Ensembl; ENST00000355594.9; ENSP00000347802.4; ENSG00000198483.13.
DR GeneID; 148741; -.
DR KEGG; hsa:148741; -.
DR UCSC; uc001eob.2; human. [Q8N283-1]
DR CTD; 148741; -.
DR GeneCards; ANKRD35; -.
DR HGNC; HGNC:26323; ANKRD35.
DR HPA; ENSG00000198483; Tissue enhanced (skin).
DR neXtProt; NX_Q8N283; -.
DR PharmGKB; PA134896362; -.
DR VEuPathDB; HostDB:ENSG00000198483; -.
DR eggNOG; ENOG502QXWS; Eukaryota.
DR HOGENOM; CLU_298955_0_0_1; -.
DR InParanoid; Q8N283; -.
DR OrthoDB; 1514637at2759; -.
DR PhylomeDB; Q8N283; -.
DR TreeFam; TF331274; -.
DR PathwayCommons; Q8N283; -.
DR SignaLink; Q8N283; -.
DR BioGRID-ORCS; 148741; 17 hits in 1068 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 184 other tissues.
DR ExpressionAtlas; Q8N283; baseline and differential.
DR Genevisible; Q8N283; 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 PRINTS; PR01415; ANKYRIN.
DR SMART; SM00248; ANK; 5.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 5.
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..599
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 COMPBIAS 577..591
FT /note="Basic and acidic 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="R -> Q (in dbSNP:rs41315701)"
FT /id="VAR_061017"
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; 109966 MW; FA7B90CF32E3F842 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 ARGEPLGALG
GEKALGGLAK GQLEKEMSVL RLSNSNLLEE LGELGRERQR LQRELQSLSQ RLQREFVPKP
EAQVQLQQLR 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
