AN18A_HUMAN
ID AN18A_HUMAN Reviewed; 992 AA.
AC Q8IVF6; A7MD11; A8MVU5; Q5SY86; Q7Z468; Q8NA88;
DT 15-DEC-2003, integrated into UniProtKB/Swiss-Prot.
DT 05-FEB-2008, sequence version 3.
DT 03-AUG-2022, entry version 154.
DE RecName: Full=Ankyrin repeat domain-containing protein 18A;
GN Name=ANKRD18A; Synonyms=KIAA2015;
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 1), AND VARIANT LYS-130.
RC TISSUE=Brain;
RA Nagase T., Kikuno R., Ohara O.;
RT "The nucleotide sequence of a long cDNA clone isolated from human.";
RL Submitted (NOV-2002) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164053; DOI=10.1038/nature02465;
RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L.,
RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R.,
RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S.,
RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K.,
RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C.,
RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E.,
RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M.,
RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J.,
RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P.,
RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S.,
RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E.,
RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D.,
RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E.,
RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K.,
RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S.,
RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J.,
RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E.,
RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V.,
RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S.,
RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K.,
RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J.,
RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M.,
RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L.,
RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M.,
RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J.,
RA Dunham I.;
RT "DNA sequence and analysis of human chromosome 9.";
RL Nature 429:369-374(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT LYS-130.
RC TISSUE=Prostate;
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=Q8IVF6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8IVF6-2; Sequence=VSP_056912, VSP_056913;
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH56266.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305};
CC Sequence=BAC23111.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AB095935; BAC23111.1; ALT_INIT; mRNA.
DR EMBL; AK093059; BAC04038.1; -; mRNA.
DR EMBL; AL390726; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL591543; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC056266; AAH56266.1; ALT_SEQ; mRNA.
DR EMBL; BC152434; AAI52435.1; -; mRNA.
DR CCDS; CCDS55311.1; -. [Q8IVF6-1]
DR RefSeq; NP_671728.2; NM_147195.3. [Q8IVF6-1]
DR RefSeq; XP_011516141.1; XM_011517839.2. [Q8IVF6-1]
DR AlphaFoldDB; Q8IVF6; -.
DR SMR; Q8IVF6; -.
DR BioGRID; 128979; 9.
DR IntAct; Q8IVF6; 5.
DR MINT; Q8IVF6; -.
DR STRING; 9606.ENSP00000382610; -.
DR iPTMnet; Q8IVF6; -.
DR PhosphoSitePlus; Q8IVF6; -.
DR BioMuta; ANKRD18A; -.
DR DMDM; 166898074; -.
DR EPD; Q8IVF6; -.
DR jPOST; Q8IVF6; -.
DR MassIVE; Q8IVF6; -.
DR MaxQB; Q8IVF6; -.
DR PaxDb; Q8IVF6; -.
DR PeptideAtlas; Q8IVF6; -.
DR PRIDE; Q8IVF6; -.
DR ProteomicsDB; 70698; -. [Q8IVF6-1]
DR Antibodypedia; 67512; 86 antibodies from 16 providers.
DR DNASU; 253650; -.
DR Ensembl; ENST00000399703.6; ENSP00000382610.4; ENSG00000180071.20. [Q8IVF6-1]
DR GeneID; 253650; -.
DR KEGG; hsa:253650; -.
DR MANE-Select; ENST00000399703.6; ENSP00000382610.4; NM_147195.4; NP_671728.2.
DR UCSC; uc004abg.5; human. [Q8IVF6-1]
DR CTD; 253650; -.
DR DisGeNET; 253650; -.
DR GeneCards; ANKRD18A; -.
DR HGNC; HGNC:23643; ANKRD18A.
DR HPA; ENSG00000180071; Tissue enhanced (bone marrow, brain).
DR neXtProt; NX_Q8IVF6; -.
DR OpenTargets; ENSG00000180071; -.
DR PharmGKB; PA134889624; -.
DR VEuPathDB; HostDB:ENSG00000180071; -.
DR eggNOG; KOG0504; Eukaryota.
DR GeneTree; ENSGT00940000164347; -.
DR HOGENOM; CLU_001111_0_0_1; -.
DR InParanoid; Q8IVF6; -.
DR OMA; LTELLMC; -.
DR PhylomeDB; Q8IVF6; -.
DR TreeFam; TF333496; -.
DR PathwayCommons; Q8IVF6; -.
DR SignaLink; Q8IVF6; -.
DR BioGRID-ORCS; 253650; 41 hits in 1046 CRISPR screens.
DR ChiTaRS; ANKRD18A; human.
DR GenomeRNAi; 253650; -.
DR Pharos; Q8IVF6; Tdark.
DR PRO; PR:Q8IVF6; -.
DR Proteomes; UP000005640; Chromosome 9.
DR RNAct; Q8IVF6; protein.
DR Bgee; ENSG00000180071; Expressed in corpus callosum and 100 other tissues.
DR ExpressionAtlas; Q8IVF6; baseline and differential.
DR Genevisible; Q8IVF6; 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 InterPro; IPR021885; DUF3496.
DR Pfam; PF12796; Ank_2; 2.
DR Pfam; PF14915; CCDC144C; 1.
DR Pfam; PF12001; DUF3496; 1.
DR SMART; SM00248; ANK; 6.
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; Coiled coil; Reference proteome; Repeat.
FT CHAIN 1..992
FT /note="Ankyrin repeat domain-containing protein 18A"
FT /id="PRO_0000066912"
FT REPEAT 67..96
FT /note="ANK 1"
FT REPEAT 100..129
FT /note="ANK 2"
FT REPEAT 133..162
FT /note="ANK 3"
FT REPEAT 166..195
FT /note="ANK 4"
FT REPEAT 199..228
FT /note="ANK 5"
FT REGION 262..320
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 278..310
FT /evidence="ECO:0000255"
FT COILED 378..618
FT /evidence="ECO:0000255"
FT COILED 683..713
FT /evidence="ECO:0000255"
FT COILED 743..899
FT /evidence="ECO:0000255"
FT COMPBIAS 276..308
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..879
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056912"
FT VAR_SEQ 989..991
FT /note="VLL -> MELDRVEQIITGTKKSFAMLSTCSRLLSFVESTAPRKHRRALPIM
FT RSLVPNRRTTVASTESRTNRPGGVRSPGLQLEGTSTLQWEQGPIAHPRHR (in
FT isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_056913"
FT VARIANT 130
FT /note="E -> K (in dbSNP:rs1832313)"
FT /evidence="ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1"
FT /id="VAR_055507"
FT VARIANT 277
FT /note="A -> E (in dbSNP:rs632200)"
FT /id="VAR_055508"
FT VARIANT 484
FT /note="N -> S (in dbSNP:rs2996347)"
FT /id="VAR_055509"
FT VARIANT 688
FT /note="Y -> C (in dbSNP:rs2799163)"
FT /id="VAR_055510"
FT VARIANT 838
FT /note="E -> D (in dbSNP:rs12341435)"
FT /id="VAR_059118"
FT VARIANT 942
FT /note="T -> I (in dbSNP:rs11999308)"
FT /id="VAR_055511"
FT VARIANT 945
FT /note="E -> D (in dbSNP:rs12341435)"
FT /id="VAR_055512"
FT CONFLICT 288
FT /note="Missing (in Ref. 4; AAH56266)"
FT /evidence="ECO:0000305"
FT CONFLICT 727
FT /note="S -> N (in Ref. 1; BAC23111 and 4; AAI52435)"
FT /evidence="ECO:0000305"
FT CONFLICT 897
FT /note="A -> V (in Ref. 1; BAC23111 and 4; AAI52435)"
FT /evidence="ECO:0000305"
FT CONFLICT 900
FT /note="G -> A (in Ref. 1; BAC23111 and 4; AAI52435)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 992 AA; 115597 MW; 26B05E166B7D6DD0 CRC64;
MRKLFSFGRR LGQALLSSMD QEYAGPGYDI RDWELRKIHR AAIKGDAAEV ERCLTRRFRD
LDARDRKDRT VLHLACAHGR VQVVTLLLHR RCQIDICDRL NRTPLMKAVH SQEEACAIVL
LECGANPNIE DIYGNTALHY AVYNKGTSLA ERLLSHHANI EALNKEGNTP LLFAINSRRQ
HMVEFLLKNQ ANIHAVDNFK RTALILAVQH NLSSIVTLLL QQNIRISSQD MFGQTAEDYA
LCSDLRSIRQ QILEHKNKML KNHLRNDNQE TAAMKPANLK KRKERAKAEH NLKVASEEKQ
ERLQRSENKQ PQDSQSYGKK KDAMYGNFML KKDIAMLKEE LYAIKNDSLR KEKKYIQEIK
SITEINANFE KSVRLNEKMI TKTVARYSQQ LNDLKAENAR LNSELEKEKH NKERLEAEVE
SLHSSLATAI NEYNEIVERK DLELVLWRAD DVSRHEKMGS NISQLTDKNE LLTEQVHKAR
VKFNTLKGKL RETRDALREK TLALGSVQLD LRQAQHRIKE MKQMHPNGEA KESQSIGKQN
SLEERIRQQE LENLLLERQL EDARKEGDNK EIVINIHRDC LENGKEDLLE ERNKELMKEY
NYLKEKLLQC EKEKAEREVI VREFQEELVD HLKTFSISES PLEGTSHCHI NLNETWTSKK
KLFQVEIQPE EKHEEFRKLF ELISLLNYTA DQIRKKNREL EEEATGYKKC LEMTINMLNA
FANEDFSCHG DLNTDQLKMD ILFKKLKQKF NDLVAEKEAV SSECVNLAKD NEVLHQELLS
MRNVQEKCEK LEKDKKMLEE EVLNLKTHME KDMVELGKLQ EYKSELDERA VQEIEKLEEI
HLQKQAEYEK QLEQLNKDNT ASLKKKELTL KDVECKFSKM KTAYEEVTTE LEEFKEAFAG
AVKANNSMSK KLMKSDKKIA VISTKLFTEK QRMKYFLSTL PTRPEPELPC VENLNSIELN
RKYIPKTAIR IPTSNPQTSN NCKNFLTEVL LC
