ANKUB_HUMAN
ID ANKUB_HUMAN Reviewed; 502 AA.
AC A6NFN9; B4E2N8; E9PHT4;
DT 22-JUL-2008, integrated into UniProtKB/Swiss-Prot.
DT 20-JUN-2018, sequence version 3.
DT 03-AUG-2022, entry version 104.
DE RecName: Full=Protein ANKUB1;
DE AltName: Full=Ankyrin repeat and ubiquitin domain-containing 1;
GN Name=ANKUB1; Synonyms=C3orf16;
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).
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=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-65 (ISOFORM 1/2/3).
RA Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B.;
RT "Cloning of human full open reading frames in Gateway(TM) system entry
RT vector (pDONR201).";
RL Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 52-244 (ISOFORM 1/2/3).
RA Stevens M., Wei C., Gross S.S., McPherson J., Brent M.R.;
RT "Exhaustive RT-PCR and sequencing of all novel TWINSCAN predictions in
RT human.";
RL Submitted (APR-2005) to the EMBL/GenBank/DDBJ databases.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=2;
CC IsoId=A6NFN9-2; Sequence=Displayed;
CC Name=1;
CC IsoId=A6NFN9-1; Sequence=VSP_059614, VSP_059615;
CC Name=3;
CC IsoId=A6NFN9-3; Sequence=VSP_059616;
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DR EMBL; AK027233; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK098078; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AK304359; BAG65200.1; -; mRNA.
DR EMBL; AC069216; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC117395; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR737646; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; DN831909; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS82857.1; -. [A6NFN9-2]
DR RefSeq; NP_001138432.1; NM_001144960.2. [A6NFN9-3]
DR RefSeq; NP_001302435.1; NM_001315506.1. [A6NFN9-2]
DR AlphaFoldDB; A6NFN9; -.
DR SMR; A6NFN9; -.
DR BioGRID; 133009; 1.
DR STRING; 9606.ENSP00000387907; -.
DR iPTMnet; A6NFN9; -.
DR PhosphoSitePlus; A6NFN9; -.
DR BioMuta; ANKUB1; -.
DR jPOST; A6NFN9; -.
DR MassIVE; A6NFN9; -.
DR PaxDb; A6NFN9; -.
DR PeptideAtlas; A6NFN9; -.
DR PRIDE; A6NFN9; -.
DR Antibodypedia; 64962; 4 antibodies from 4 providers.
DR DNASU; 389161; -.
DR Ensembl; ENST00000446160.7; ENSP00000387907.1; ENSG00000206199.11. [A6NFN9-3]
DR Ensembl; ENST00000462519.3; ENSP00000417635.2; ENSG00000206199.11. [A6NFN9-2]
DR GeneID; 389161; -.
DR KEGG; hsa:389161; -.
DR MANE-Select; ENST00000446160.7; ENSP00000387907.1; NM_001144960.3; NP_001138432.1. [A6NFN9-3]
DR UCSC; uc062oxx.1; human. [A6NFN9-2]
DR CTD; 389161; -.
DR DisGeNET; 389161; -.
DR GeneCards; ANKUB1; -.
DR HGNC; HGNC:29642; ANKUB1.
DR HPA; ENSG00000206199; Group enriched (brain, choroid plexus, fallopian tube).
DR neXtProt; NX_A6NFN9; -.
DR OpenTargets; ENSG00000206199; -.
DR PharmGKB; PA134863258; -.
DR VEuPathDB; HostDB:ENSG00000206199; -.
DR eggNOG; ENOG502QPYP; Eukaryota.
DR GeneTree; ENSGT00390000007965; -.
DR HOGENOM; CLU_543968_0_0_1; -.
DR InParanoid; A6NFN9; -.
DR OMA; QDTMPIM; -.
DR OrthoDB; 974089at2759; -.
DR PhylomeDB; A6NFN9; -.
DR TreeFam; TF343343; -.
DR PathwayCommons; A6NFN9; -.
DR BioGRID-ORCS; 389161; 3 hits in 203 CRISPR screens.
DR ChiTaRS; ANKUB1; human.
DR GenomeRNAi; 389161; -.
DR Pharos; A6NFN9; Tdark.
DR PRO; PR:A6NFN9; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; A6NFN9; protein.
DR Bgee; ENSG00000206199; Expressed in olfactory segment of nasal mucosa and 105 other tissues.
DR ExpressionAtlas; A6NFN9; baseline and differential.
DR Genevisible; A6NFN9; HS.
DR Gene3D; 1.25.40.20; -; 1.
DR InterPro; IPR042788; ANKUB1.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR000626; Ubiquitin-like_dom.
DR InterPro; IPR029071; Ubiquitin-like_domsf.
DR PANTHER; PTHR46885; PTHR46885; 1.
DR Pfam; PF13637; Ank_4; 1.
DR Pfam; PF00240; ubiquitin; 1.
DR SMART; SM00248; ANK; 3.
DR SUPFAM; SSF48403; SSF48403; 1.
DR SUPFAM; SSF54236; SSF54236; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..502
FT /note="Protein ANKUB1"
FT /id="PRO_0000344463"
FT VAR_SEQ 411..424
FT /note="VNASSFSELQKHQQ -> KGESPKADKSSGIM (in isoform 1)"
FT /id="VSP_059614"
FT VAR_SEQ 425..502
FT /note="Missing (in isoform 1)"
FT /id="VSP_059615"
FT VAR_SEQ 502
FT /note="R -> SAFKEKRWLQQLEIARVLAKKSISNLTTRGGLTACENSLETVL (in
FT isoform 3)"
FT /id="VSP_059616"
FT VARIANT 217
FT /note="R -> W (in dbSNP:rs7645720)"
FT /id="VAR_045621"
FT VARIANT 306
FT /note="I -> M (in dbSNP:rs3821406)"
FT /id="VAR_045622"
FT VARIANT 386
FT /note="S -> G (in dbSNP:rs7610425)"
FT /id="VAR_045623"
FT CONFLICT 81
FT /note="D -> H (in Ref. 4; DN831909)"
FT /evidence="ECO:0000305"
FT CONFLICT 173
FT /note="Q -> L (in Ref. 4; DN831909)"
FT /evidence="ECO:0000305"
FT CONFLICT 177
FT /note="V -> K (in Ref. 4; DN831909)"
FT /evidence="ECO:0000305"
FT CONFLICT 222..223
FT /note="VG -> NK (in Ref. 4; DN831909)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 502 AA; 56600 MW; B914E6E2CC0E209B CRC64;
MRIFIAFEGS FEPFDVSADE TVEVVKLMIK DYFHIPLSED KQGRRYLELM YAGAALKDSW
SLADVGISFC STLKCFVKEE DKPTLYVFNA VTQDTMPVME SISLLDKTVS DLRTLVTLRC
GLPVSVYCLR TPRGLEMYDC NTLKDYQTDI GTTLRLDVWD GWKEFLMGCL LGQKLKVQRY
LSKEGPVLKY QKRVALYIAA FCGYIELTEW ALKQGARPHE AVGVHPYRAW CHEALHADVS
KCPIHAAAEA GQLLILKAFV NYSVLCLECK NAAGQTPLTI VFKHKHKDCV LYLLSKMWST
VSFPKISVPM RIYIKIKQWI LRAQSHSLHK SQFCGARVFG AKVGDTVMVD GFTKPKMTSK
SWHKAGNSDS QSIVLKLPSL SKQTASSKPV NPLAISQPDT RKQALKFHPL VNASSFSELQ
KHQQQNQKKI TATARKKEKL IKNTYLPQVP LPPVSRVGYS HPSFFYATPS ADFLLKSSFS
SFLEHSGKTP WENAIYCLAV AR
