AN30A_HUMAN
ID AN30A_HUMAN Reviewed; 1397 AA.
AC Q9BXX3; Q5W025;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 3.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Ankyrin repeat domain-containing protein 30A;
DE AltName: Full=Serologically defined breast cancer antigen NY-BR-1;
GN Name=ANKRD30A;
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=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 24-1397, 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 [3]
RP IDENTIFICATION.
RX PubMed=16364570; DOI=10.1016/j.gene.2005.07.045;
RA Hahn Y., Bera T.K., Pastan I.H., Lee B.;
RT "Duplication and extensive remodeling shaped POTE family genes encoding
RT proteins containing ankyrin repeat and coiled coil domains.";
RL Gene 366:238-245(2006).
RN [4]
RP VARIANT [LARGE SCALE ANALYSIS] GLU-227.
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 -!- TISSUE SPECIFICITY: Mainly expressed in breast and testis. A very faint
CC signal is detected in placenta. Also expressed in many breast cancer
CC cells. {ECO:0000269|PubMed:11280766}.
CC -!- CAUTION: It is uncertain whether Met-1 or Met-57 is the initiator.
CC {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAK27325.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AC067744; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL157387; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL357148; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF269087; AAK27325.1; ALT_INIT; mRNA.
DR CCDS; CCDS7193.1; -.
DR RefSeq; NP_443723.2; NM_052997.2.
DR PDB; 6R2L; X-ray; 2.30 A; C=960-968.
DR PDBsum; 6R2L; -.
DR AlphaFoldDB; Q9BXX3; -.
DR SMR; Q9BXX3; -.
DR BioGRID; 124793; 6.
DR STRING; 9606.ENSP00000354432; -.
DR iPTMnet; Q9BXX3; -.
DR PhosphoSitePlus; Q9BXX3; -.
DR BioMuta; ANKRD30A; -.
DR DMDM; 182676432; -.
DR EPD; Q9BXX3; -.
DR MassIVE; Q9BXX3; -.
DR MaxQB; Q9BXX3; -.
DR PaxDb; Q9BXX3; -.
DR PeptideAtlas; Q9BXX3; -.
DR PRIDE; Q9BXX3; -.
DR ProteomicsDB; 79538; -.
DR Antibodypedia; 1797; 57 antibodies from 20 providers.
DR DNASU; 91074; -.
DR Ensembl; ENST00000361713.2; ENSP00000354432.2; ENSG00000148513.19.
DR Ensembl; ENST00000602533.7; ENSP00000473551.2; ENSG00000148513.19.
DR GeneID; 91074; -.
DR KEGG; hsa:91074; -.
DR MANE-Select; ENST00000361713.2; ENSP00000354432.2; NM_052997.3; NP_443723.3.
DR UCSC; uc001iza.2; human.
DR CTD; 91074; -.
DR DisGeNET; 91074; -.
DR GeneCards; ANKRD30A; -.
DR HGNC; HGNC:17234; ANKRD30A.
DR HPA; ENSG00000148513; Tissue enriched (breast).
DR MIM; 610856; gene.
DR neXtProt; NX_Q9BXX3; -.
DR OpenTargets; ENSG00000148513; -.
DR PharmGKB; PA134974407; -.
DR VEuPathDB; HostDB:ENSG00000148513; -.
DR eggNOG; KOG0504; Eukaryota.
DR GeneTree; ENSGT00940000165686; -.
DR InParanoid; Q9BXX3; -.
DR OrthoDB; 305292at2759; -.
DR PhylomeDB; Q9BXX3; -.
DR TreeFam; TF333496; -.
DR PathwayCommons; Q9BXX3; -.
DR BioGRID-ORCS; 91074; 11 hits in 1069 CRISPR screens.
DR ChiTaRS; ANKRD30A; human.
DR GenomeRNAi; 91074; -.
DR Pharos; Q9BXX3; Tbio.
DR PRO; PR:Q9BXX3; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q9BXX3; protein.
DR Bgee; ENSG00000148513; Expressed in epithelium of mammary gland and 55 other tissues.
DR ExpressionAtlas; Q9BXX3; baseline and differential.
DR Genevisible; Q9BXX3; 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; PF00023; Ank; 1.
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 1: Evidence at protein level;
KW 3D-structure; ANK repeat; Coiled coil; Reference proteome; Repeat.
FT CHAIN 1..1397
FT /note="Ankyrin repeat domain-containing protein 30A"
FT /id="PRO_0000243905"
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 REPEAT 237..271
FT /note="ANK 6"
FT REGION 267..376
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 453..482
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 782..807
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 902..931
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 998..1188
FT /evidence="ECO:0000255"
FT COILED 1282..1327
FT /evidence="ECO:0000255"
FT COMPBIAS 294..308
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 349..376
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 453..468
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 782..804
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 910..931
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 227
FT /note="Q -> E (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035611"
FT VARIANT 611
FT /note="T -> A (in dbSNP:rs16937417)"
FT /id="VAR_033504"
FT VARIANT 917
FT /note="K -> N (in dbSNP:rs1209750)"
FT /id="VAR_033505"
FT VARIANT 985
FT /note="R -> C (in dbSNP:rs1200875)"
FT /id="VAR_055515"
FT CONFLICT 141
FT /note="T -> M (in Ref. 2; AAK27325)"
FT /evidence="ECO:0000305"
FT CONFLICT 665
FT /note="L -> W (in Ref. 2; AAK27325)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1397 AA; 158835 MW; 8E92FD72E449BBE9 CRC64;
MEEISAAAVK VVPGPERPSP FSQLVYTSND SYIVHSGDLR KIHKAASRGQ VRKLEKMTKR
KKTINLNIQD AQKRTALHWA CVNGHEEVVT FLVDRKCQLD VLDGEHRTPL MKALQCHQEA
CANILIDSGA DINLVDVYGN TALHYAVYSE ILSVVAKLLS HGAVIEVHNK ASLTPLLLSI
TKRSEQIVEF LLIKNANANA VNKYKCTALM LAVCHGSSEI VGMLLQQNVD VFAADICGVT
AEHYAVTCGF HHIHEQIMEY IRKLSKNHQN TNPEGTSAGT PDEAAPLAER TPDTAESLVE
KTPDEAAPLV ERTPDTAESL VEKTPDEAAS LVEGTSDKIQ CLEKATSGKF EQSAEETPRE
ITSPAKETSE KFTWPAKGRP RKIAWEKKED TPREIMSPAK ETSEKFTWAA KGRPRKIAWE
KKETPVKTGC VARVTSNKTK VLEKGRSKMI ACPTKESSTK ASANDQRFPS ESKQEEDEEY
SCDSRSLFES SAKIQVCIPE SIYQKVMEIN REVEEPPKKP SAFKPAIEMQ NSVPNKAFEL
KNEQTLRADP MFPPESKQKD YEENSWDSES LCETVSQKDV CLPKATHQKE IDKINGKLEE
SPNKDGLLKA TCGMKVSIPT KALELKDMQT FKAEPPGKPS AFEPATEMQK SVPNKALELK
NEQTLRADEI LPSESKQKDY EENSWDTESL CETVSQKDVC LPKAAHQKEI DKINGKLEGS
PVKDGLLKAN CGMKVSIPTK ALELMDMQTF KAEPPEKPSA FEPAIEMQKS VPNKALELKN
EQTLRADEIL PSESKQKDYE ESSWDSESLC ETVSQKDVCL PKATHQKEID KINGKLEESP
DNDGFLKAPC RMKVSIPTKA LELMDMQTFK AEPPEKPSAF EPAIEMQKSV PNKALELKNE
QTLRADQMFP SESKQKKVEE NSWDSESLRE TVSQKDVCVP KATHQKEMDK ISGKLEDSTS
LSKILDTVHS CERARELQKD HCEQRTGKME QMKKKFCVLK KKLSEAKEIK SQLENQKVKW
EQELCSVRLT LNQEEEKRRN ADILNEKIRE ELGRIEEQHR KELEVKQQLE QALRIQDIEL
KSVESNLNQV SHTHENENYL LHENCMLKKE IAMLKLEIAT LKHQYQEKEN KYFEDIKILK
EKNAELQMTL KLKEESLTKR ASQYSGQLKV LIAENTMLTS KLKEKQDKEI LEAEIESHHP
RLASAVQDHD QIVTSRKSQE PAFHIAGDAC LQRKMNVDVS STIYNNEVLH QPLSEAQRKS
KSLKINLNYA GDALRENTLV SEHAQRDQRE TQCQMKEAEH MYQNEQDNVN KHTEQQESLD
QKLFQLQSKN MWLQQQLVHA HKKADNKSKI TIDIHFLERK MQHHLLKEKN EEIFNYNNHL
KNRIYQYEKE KAETENS
