AN30B_HUMAN
ID AN30B_HUMAN Reviewed; 1392 AA.
AC Q9BXX2; B4DGP1; F8WAG3; Q4G175;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 21-MAR-2012, sequence version 3.
DT 03-AUG-2022, entry version 131.
DE RecName: Full=Ankyrin repeat domain-containing protein 30B;
DE AltName: Full=Serologically defined breast cancer antigen NY-BR-1.1 {ECO:0000303|PubMed:11280766};
GN Name=ANKRD30B;
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 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-1249 (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=11280766;
RA Jaeger D., Stockert E., Guere A.O., Scanlan M.J., Karbach J., Jaeger E.,
RA Knuth A., Old L.J., Chen Y.-T.;
RT "Identification of a tissue-specific putative transcription factor in
RT breast tissue by serological screening of a breast cancer library.";
RL Cancer Res. 61:2055-2061(2001).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 831-1392 (ISOFORM 1).
RC TISSUE=Brain;
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q9BXX2-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9BXX2-2; Sequence=VSP_032812, VSP_032813;
CC -!- TISSUE SPECIFICITY: Expressed in brain, breast and testis.
CC {ECO:0000269|PubMed:11280766}.
CC -!- MISCELLANEOUS: [Isoform 2]: May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK27326.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=AAK27326.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAG57852.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AP006507; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP006564; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AP006565; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC028407; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AF269088; AAK27326.1; ALT_SEQ; mRNA.
DR EMBL; AK294693; BAG57852.1; ALT_INIT; mRNA.
DR RefSeq; NP_001138501.1; NM_001145029.1.
DR AlphaFoldDB; Q9BXX2; -.
DR SMR; Q9BXX2; -.
DR BioGRID; 131923; 4.
DR IntAct; Q9BXX2; 3.
DR MINT; Q9BXX2; -.
DR STRING; 9606.ENSP00000351875; -.
DR iPTMnet; Q9BXX2; -.
DR PhosphoSitePlus; Q9BXX2; -.
DR BioMuta; ANKRD30B; -.
DR DMDM; 380865477; -.
DR EPD; Q9BXX2; -.
DR MassIVE; Q9BXX2; -.
DR PaxDb; Q9BXX2; -.
DR PeptideAtlas; Q9BXX2; -.
DR PRIDE; Q9BXX2; -.
DR ProteomicsDB; 79536; -. [Q9BXX2-1]
DR ProteomicsDB; 79537; -. [Q9BXX2-2]
DR TopDownProteomics; Q9BXX2-2; -. [Q9BXX2-2]
DR Antibodypedia; 70462; 5 antibodies from 5 providers.
DR Ensembl; ENST00000358984.9; ENSP00000351875.4; ENSG00000180777.15. [Q9BXX2-1]
DR Ensembl; ENST00000580206.1; ENSP00000463332.1; ENSG00000180777.15. [Q9BXX2-2]
DR UCSC; uc060nsr.1; human. [Q9BXX2-1]
DR GeneCards; ANKRD30B; -.
DR HGNC; HGNC:24165; ANKRD30B.
DR HPA; ENSG00000180777; Tissue enriched (testis).
DR MIM; 616565; gene.
DR neXtProt; NX_Q9BXX2; -.
DR OpenTargets; ENSG00000180777; -.
DR PharmGKB; PA134980028; -.
DR VEuPathDB; HostDB:ENSG00000180777; -.
DR eggNOG; KOG0504; Eukaryota.
DR GeneTree; ENSGT00940000165686; -.
DR HOGENOM; CLU_001111_2_2_1; -.
DR InParanoid; Q9BXX2; -.
DR OrthoDB; 305292at2759; -.
DR PhylomeDB; Q9BXX2; -.
DR TreeFam; TF333496; -.
DR PathwayCommons; Q9BXX2; -.
DR SignaLink; Q9BXX2; -.
DR BioGRID-ORCS; 374860; 5 hits in 1062 CRISPR screens.
DR ChiTaRS; ANKRD30B; human.
DR GenomeRNAi; 374860; -.
DR Pharos; Q9BXX2; Tdark.
DR PRO; PR:Q9BXX2; -.
DR Proteomes; UP000005640; Chromosome 18.
DR RNAct; Q9BXX2; protein.
DR Bgee; ENSG00000180777; Expressed in buccal mucosa cell and 82 other tissues.
DR ExpressionAtlas; Q9BXX2; baseline and differential.
DR Genevisible; Q9BXX2; HS.
DR Gene3D; 1.25.40.20; -; 2.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR039497; CC144C-like_CC_dom.
DR Pfam; PF12796; Ank_2; 2.
DR Pfam; PF14915; CCDC144C; 1.
DR SMART; SM00248; ANK; 6.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 4.
PE 2: Evidence at transcript level;
KW Alternative splicing; ANK repeat; Coiled coil; Reference proteome; Repeat.
FT CHAIN 1..1392
FT /note="Ankyrin repeat domain-containing protein 30B"
FT /id="PRO_0000416039"
FT REPEAT 72..101
FT /note="ANK 1"
FT REPEAT 105..134
FT /note="ANK 2"
FT REPEAT 138..167
FT /note="ANK 3"
FT REPEAT 171..200
FT /note="ANK 4"
FT REPEAT 204..233
FT /note="ANK 5"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 265..292
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 558..587
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 636..656
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 671..690
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 830..877
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 904..926
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 960..1168
FT /evidence="ECO:0000255"
FT COILED 1270..1318
FT /evidence="ECO:0000255"
FT COMPBIAS 265..279
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 636..653
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 609..619
FT /note="ESPVKDGLLKP -> AYLWKESFSSK (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032812"
FT VAR_SEQ 620..1392
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032813"
FT VARIANT 375
FT /note="V -> M (in dbSNP:rs9748611)"
FT /id="VAR_042540"
FT VARIANT 477
FT /note="F -> L (in dbSNP:rs9675365)"
FT /id="VAR_042541"
FT CONFLICT 248
FT /note="C -> R (in Ref. 3; AAK27326)"
FT /evidence="ECO:0000305"
FT CONFLICT 965
FT /note="D -> G (in Ref. 4; BAG57852)"
FT /evidence="ECO:0000305"
FT CONFLICT 977
FT /note="T -> M (in Ref. 3; AAK27326 and 4; BAG57852)"
FT /evidence="ECO:0000305"
FT CONFLICT 1015
FT /note="T -> P (in Ref. 3; AAK27326)"
FT /evidence="ECO:0000305"
FT CONFLICT 1047
FT /note="Q -> H (in Ref. 3; AAK27326)"
FT /evidence="ECO:0000305"
FT CONFLICT 1345
FT /note="N -> K (in Ref. 4; BAG57852)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1392 AA; 158049 MW; A8E54B496F3C1C5E CRC64;
MKRLLAAAGK GVRGPEPPNP FSERVYTEKD YGTIYFGDLG KIHTAASRGQ VQKLEKMTVG
KKPVNLNKRD MKKRTALHWA CVNGHAEVVT FLVDRKCQLN VLDGEGRTPL MKALQCEREA
CANILIDAGA DLNYVDVYGN TALHYAVYSE NLLMVATLLS YGAVIEVQNK ASLTPLLLAI
QKRSKQTVEF LLTKNANANA FNESKCTALM LAICEGSSEI VGMLLQQNVD VFAEDIHGIT
AERYAAACGV NYIHQQLLEH IRKLPKNPQN TNPEGTSTGT PDEAAPLAER TPDTAESLLE
KTPDEAARLV EGTSAKIQCL GKATSGKFEQ STEETPRKIL RPTKETSEKF SWPAKERSRK
ITWEEKETSV KTECVAGVTP NKTEVLEKGT SNMIACPTKE TSTKASTNVD VSSVEPIFSL
FGTRTIENSQ CTKVEEDFNL ATKIISKSAA QNYTCLPDAT YQKDIKTINH KIEDQMFPSE
SKREEDEEYS WDSGSLFESS AKTQVCIPES MYQKVMEINR EVEELPEKPS AFKPAVEMQK
TVPNKAFELK NEQTLRAAQM FPSESKQKDD EENSWDSESP CETVSQKDVY LPKATHQKEF
DTLSGKLEES PVKDGLLKPT CGRKVSLPNK ALELKDRETF KAESPDKDGL LKPTCGRKVS
LPNKALELKD RETLKAESPD NDGLLKPTCG RKVSLPNKAL ELKDRETFKA AQMFPSESKQ
KDDEENSWDF ESFLETLLQN DVCLPKATHQ KEFDTLSGKL EESPDKDGLL KPTCGMKISL
PNKALELKDR ETFKAEDVSS VESTFSLFGK PTTENSQSTK VEEDFNLTTK EGATKTVTGQ
QERDIGIIER APQDQTNKMP TSELGRKEDT KSTSDSEIIS VSDTQNYECL PEATYQKEIK
TTNGKIEESP EKPSHFEPAT EMQNSVPNKG LEWKNKQTLR ADSTTLSKIL DALPSCERGR
ELKKDNCEQI TAKMEQTKNK FCVLQKELSE AKEIKSQLEN QKAKWEQELC SVRLTLNQEE
EKRRNVDILK EKIRPEEQLR KKLEVKQQLE QTLRIQDIEL KSVTSNLNQV SHTHESENDL
FHENCMLKKE IAMLKLEVAT LKHQHQVKEN KYFEDIKILQ EKNAELQMTL KLKQKTVTKR
ASQYREQLKV LTAENTMLTS KLKEKQDKEI LETEIESHHP RLASALQDHD QSVTSRKNQE
LAFHSAGDAP LQGIMNVDVS NTIYNNEVLH QPLYEAQRKS KSPKINLNYA GDDLRENALV
SEHAQRDRCE TQCQMKKAEH MYQNEQDNVD KHTEQQESLE QKLFQLESKN RWLRQQLVYA
HKKVNKSKVT INIQFPEMKM QRHLNEKNEE VFNYGNHLKE RIDQYEKEKA EREVSIKKYK
YFSNFLKESG LG
