A30BL_HUMAN
ID A30BL_HUMAN Reviewed; 258 AA.
AC A7E2S9; B8ZZL7;
DT 10-JUN-2008, integrated into UniProtKB/Swiss-Prot.
DT 05-OCT-2010, sequence version 3.
DT 03-AUG-2022, entry version 97.
DE RecName: Full=Putative ankyrin repeat domain-containing protein 30B-like;
GN Name=ANKRD30BL; Synonyms=NCRNA00164;
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=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 42-258 (ISOFORM 2).
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=A7E2S9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A7E2S9-2; Sequence=VSP_039808;
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}.
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DR EMBL; AC097532; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC098826; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471058; EAX11682.1; -; Genomic_DNA.
DR EMBL; BC150521; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS86883.1; -. [A7E2S9-1]
DR AlphaFoldDB; A7E2S9; -.
DR SMR; A7E2S9; -.
DR STRING; 9606.ENSP00000386398; -.
DR BioMuta; ANKRD30BL; -.
DR MassIVE; A7E2S9; -.
DR PaxDb; A7E2S9; -.
DR PeptideAtlas; A7E2S9; -.
DR PRIDE; A7E2S9; -.
DR Ensembl; ENST00000295181.6; ENSP00000295181.6; ENSG00000163046.16. [A7E2S9-2]
DR Ensembl; ENST00000409867.6; ENSP00000386398.1; ENSG00000163046.16. [A7E2S9-1]
DR MANE-Select; ENST00000409867.6; ENSP00000386398.1; NM_001358416.1; NP_001345345.1.
DR UCSC; uc061nxe.1; human. [A7E2S9-1]
DR GeneCards; ANKRD30BL; -.
DR HGNC; HGNC:35167; ANKRD30BL.
DR HPA; ENSG00000163046; Tissue enriched (testis).
DR neXtProt; NX_A7E2S9; -.
DR OpenTargets; ENSG00000163046; -.
DR VEuPathDB; HostDB:ENSG00000163046; -.
DR eggNOG; KOG0504; Eukaryota.
DR GeneTree; ENSGT00940000164163; -.
DR HOGENOM; CLU_000134_9_4_1; -.
DR InParanoid; A7E2S9; -.
DR OMA; ACFNGHA; -.
DR PhylomeDB; A7E2S9; -.
DR TreeFam; TF337879; -.
DR ChiTaRS; ANKRD30BL; human.
DR Pharos; A7E2S9; Tdark.
DR PRO; PR:A7E2S9; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; A7E2S9; protein.
DR Bgee; ENSG00000163046; Expressed in colonic epithelium and 81 other tissues.
DR Genevisible; A7E2S9; HS.
DR Gene3D; 1.25.40.20; -; 2.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR Pfam; PF12796; Ank_2; 2.
DR PRINTS; PR01415; ANKYRIN.
DR SMART; SM00248; ANK; 4.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 3.
PE 2: Evidence at transcript level;
KW Alternative splicing; ANK repeat; Reference proteome; Repeat.
FT CHAIN 1..258
FT /note="Putative ankyrin repeat domain-containing protein
FT 30B-like"
FT /id="PRO_0000341256"
FT REPEAT 71..100
FT /note="ANK 1"
FT REPEAT 104..133
FT /note="ANK 2"
FT REPEAT 137..166
FT /note="ANK 3"
FT REPEAT 170..199
FT /note="ANK 4"
FT REGION 1..21
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 216..258
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 216..231
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 206..258
FT /note="VHQQLLEYKQKISKNSQNSNPEGTSEGTPDEAAPLAERTPDTAESLVERTPD
FT E -> TALMLAICHGSSEIVGKLLQQNVDICAEATCGMIAERYAVACGFNL (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039808"
SQ SEQUENCE 258 AA; 28549 MW; 529F3DEEC99F27E1 CRC64;
MERLSAAPVK GQTGPERPSP FSQLVYTNND SYVIHHGDLR KIHKAASRGQ AWKLERMMKK
TTMDLNIRDA KKRTALYWAC ANGHAEVVTL LVDRKCQLDV LDGENRTILM KALQCQREAC
ANILIDSGAD PNIVDVYGNT AVHYAVNSEN LSVVAKLLSC GADIEVKNKA GHTPLLLAIR
KRSEEIVEFL LTKNANANAV DKFKCVHQQL LEYKQKISKN SQNSNPEGTS EGTPDEAAPL
AERTPDTAES LVERTPDE
