ANR24_HUMAN
ID ANR24_HUMAN Reviewed; 1146 AA.
AC Q8TF21; O75268; O95781;
DT 08-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 08-APR-2008, sequence version 2.
DT 03-AUG-2022, entry version 136.
DE RecName: Full=Ankyrin repeat domain-containing protein 24;
GN Name=ANKRD24; Synonyms=KIAA1981;
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=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 100-872 (ISOFORM 2), AND VARIANTS
RP THR-111; GLN-349; LYS-585 AND ALA-684.
RC TISSUE=Brain;
RX PubMed=11853319; DOI=10.1093/dnares/8.6.319;
RA Nagase T., Kikuno R., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XXII. The
RT complete sequences of 50 new cDNA clones which code for large proteins.";
RL DNA Res. 8:319-327(2001).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8TF21-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8TF21-2; Sequence=VSP_032811;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAC33490.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=AAD15479.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AC006930; AAD15479.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AC005578; AAC33490.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AB075861; BAB85567.1; -; mRNA.
DR CCDS; CCDS45925.1; -. [Q8TF21-1]
DR RefSeq; NP_597732.1; NM_133475.1. [Q8TF21-1]
DR AlphaFoldDB; Q8TF21; -.
DR SMR; Q8TF21; -.
DR BioGRID; 128096; 6.
DR IntAct; Q8TF21; 8.
DR MINT; Q8TF21; -.
DR STRING; 9606.ENSP00000471252; -.
DR iPTMnet; Q8TF21; -.
DR PhosphoSitePlus; Q8TF21; -.
DR BioMuta; ANKRD24; -.
DR DMDM; 182627626; -.
DR EPD; Q8TF21; -.
DR MassIVE; Q8TF21; -.
DR PaxDb; Q8TF21; -.
DR PeptideAtlas; Q8TF21; -.
DR PRIDE; Q8TF21; -.
DR ProteomicsDB; 74542; -. [Q8TF21-1]
DR ProteomicsDB; 74543; -. [Q8TF21-2]
DR Antibodypedia; 53380; 16 antibodies from 10 providers.
DR DNASU; 170961; -.
DR Ensembl; ENST00000262970.9; ENSP00000262970.4; ENSG00000089847.13. [Q8TF21-2]
DR Ensembl; ENST00000318934.9; ENSP00000321731.4; ENSG00000089847.13. [Q8TF21-1]
DR Ensembl; ENST00000600132.5; ENSP00000471252.1; ENSG00000089847.13. [Q8TF21-1]
DR GeneID; 170961; -.
DR KEGG; hsa:170961; -.
DR MANE-Select; ENST00000318934.9; ENSP00000321731.4; NM_001393985.1; NP_001380914.1.
DR UCSC; uc002lzt.3; human. [Q8TF21-1]
DR CTD; 170961; -.
DR DisGeNET; 170961; -.
DR GeneCards; ANKRD24; -.
DR HGNC; HGNC:29424; ANKRD24.
DR HPA; ENSG00000089847; Tissue enhanced (brain, liver, testis).
DR neXtProt; NX_Q8TF21; -.
DR OpenTargets; ENSG00000089847; -.
DR PharmGKB; PA134937612; -.
DR VEuPathDB; HostDB:ENSG00000089847; -.
DR eggNOG; ENOG502QQ0K; Eukaryota.
DR GeneTree; ENSGT00940000159237; -.
DR HOGENOM; CLU_005323_0_0_1; -.
DR InParanoid; Q8TF21; -.
DR OMA; GPMEMEL; -.
DR OrthoDB; 876605at2759; -.
DR PhylomeDB; Q8TF21; -.
DR TreeFam; TF331274; -.
DR PathwayCommons; Q8TF21; -.
DR SignaLink; Q8TF21; -.
DR BioGRID-ORCS; 170961; 12 hits in 1065 CRISPR screens.
DR ChiTaRS; ANKRD24; human.
DR GenomeRNAi; 170961; -.
DR Pharos; Q8TF21; Tdark.
DR PRO; PR:Q8TF21; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q8TF21; protein.
DR Bgee; ENSG00000089847; Expressed in right frontal lobe and 95 other tissues.
DR ExpressionAtlas; Q8TF21; baseline and differential.
DR Genevisible; Q8TF21; 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; 1.
DR SMART; SM00248; ANK; 5.
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..1146
FT /note="Ankyrin repeat domain-containing protein 24"
FT /id="PRO_0000328836"
FT REPEAT 81..110
FT /note="ANK 1"
FT REPEAT 114..143
FT /note="ANK 2"
FT REPEAT 147..176
FT /note="ANK 3"
FT REPEAT 180..209
FT /note="ANK 4"
FT REPEAT 213..242
FT /note="ANK 5"
FT REGION 272..320
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 607..627
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 766..785
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 320..517
FT /evidence="ECO:0000255"
FT COILED 714..1110
FT /evidence="ECO:0000255"
FT COMPBIAS 273..298
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..41
FT /note="MKTLRARFKKTELRLSPTDLGSCPPCGPCPIPKPAARGRRQ -> MQPAACA
FT GEGAGPPAPRPPHPPGDKVRRGRGGAPSLSPQPPAPYLGLPIPSRGGGGWRGGQGGGGG
FT TREGGTGRAGGAGSSGSAQPRPPAAPRGPSRPSGRRLLLEPRAPPAPRAPDAMKQLCLC
FT AAASFA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:11853319"
FT /id="VSP_032811"
FT VARIANT 111
FT /note="A -> T (in dbSNP:rs2052191)"
FT /evidence="ECO:0000269|PubMed:11853319"
FT /id="VAR_042536"
FT VARIANT 349
FT /note="R -> Q (in dbSNP:rs12978469)"
FT /evidence="ECO:0000269|PubMed:11853319"
FT /id="VAR_042537"
FT VARIANT 585
FT /note="E -> K (in dbSNP:rs10413818)"
FT /evidence="ECO:0000269|PubMed:11853319"
FT /id="VAR_042538"
FT VARIANT 684
FT /note="S -> A (in dbSNP:rs353693)"
FT /evidence="ECO:0000269|PubMed:11853319"
FT /id="VAR_042539"
SQ SEQUENCE 1146 AA; 124187 MW; 89E82EAD9056DCCB CRC64;
MKTLRARFKK TELRLSPTDL GSCPPCGPCP IPKPAARGRR QSQDWGKSDE RLLQAVENND
APRVAALIAR KGLVPTKLDP EGKSAFHLAA MRGAASCLEV MIAHGSNVMS ADGAGYNALH
LAAKYGHPQC LKQLLQASCV VDVVDSSGWT ALHHAAAGGC LSCSEVLCSF KAHLNPQDRS
GATPLIIAAQ MCHTDLCRLL LQQGAAANDQ DLQGRTALML ACEGASPETV EVLLQGGAQP
GITDALGQDA AHYGALAGDK LILHLLQEAA QRPSPPSALT EDDSGEASSQ NSMSSHGKQG
APKKRKAPPP PASIPMPDDR DAYEEIVRLR QERGRLLQKI RGLEQHKERR QQESPEASSL
HILERQVQEL QQLLVERQEE KESLGREVES LQSRLSLLEN ERENTSYDVT TLQDEEGELP
DLPGAEVLLS RQLSPSAQEH LASLQEQVAV LTRQNQELME KVQILENFEK DETQMEVEAL
AEVIPLALYD SLRAEFDQLR RQHAEALQAL RQQETREVPR EEGAACGESE VAGATATKNG
PTHMELNGSV APETKVNGAE TIDEEAAGDE TMEARTMEAE ATGAEATGAE ATGAKVTETK
PTGAEVREME TTEEEANMET KPTGAQATDT ETTGVEAMGV EATKTKAEEA EMQAYGVGAG
QAEPPVTGTT NMEATGSRAT GMESTGVSAT GVENPGVEAT VPGISAGPIL HPGAAEASEK
LQVELETRIR GLEEALRQRE REAAAELEAA LGKCEAAEAE AGRLRERVRE AEGSGASGGG
GGDTTQLRAA LEQAREDLRD RDSRLRELEA ASACLDEARA SRLLAEEEAR GLRAELAQRE
EARLEQSREL EVLREQLATA RATGEQQRTA AAELGRARDA AEARVAELPA ACEEARQGLA
ELREASEALR QSVVPASEHR RLQEEALELR GRAASLEQEV VATGKEAARL RAELERERVC
SVALSEHERI VGTLQANVAQ LEGQLEELGR RHEKTSAEVF QVQREALFMK SERHAAEAQL
ATAEQQLRGL RTEAERARQA QSRAQEALDK AKEKDKKITE LSKEVFNLKE ALKEQPAALA
TPEVEALRDQ VKDLQQQLQE AARDHSSVVA LYRSHLLYAI QGQMDEDVQR ILSQILQMQR
LQAQGR
