AKD1A_HUMAN
ID AKD1A_HUMAN Reviewed; 522 AA.
AC Q495B1; Q495B2; Q495B3; Q8N7A0; Q8NBS5;
DT 15-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 09-FEB-2010, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=Ankyrin repeat and death domain-containing protein 1A;
GN Name=ANKDD1A;
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 3).
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).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 92-522 (ISOFORMS 1 AND 2), AND
RP VARIANT GLU-355.
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=4;
CC Name=5;
CC IsoId=Q495B1-5; Sequence=Displayed;
CC Name=2;
CC IsoId=Q495B1-2; Sequence=VSP_038678;
CC Name=3;
CC IsoId=Q495B1-6; Sequence=VSP_038676, VSP_038677;
CC Name=1;
CC IsoId=Q495B1-1; Sequence=VSP_038675;
CC -!- MISCELLANEOUS: [Isoform 3]: 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 -!- MISCELLANEOUS: [Isoform 1]: 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=BAC05399.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};
CC Sequence=BAC11532.1; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305};
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DR EMBL; AK075298; BAC11532.1; ALT_SEQ; mRNA.
DR EMBL; AK098736; BAC05399.1; ALT_SEQ; mRNA.
DR EMBL; AC069368; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC101273; AAI01274.1; -; mRNA.
DR EMBL; BC101274; AAI01275.1; -; mRNA.
DR EMBL; BC101275; AAI01276.1; -; mRNA.
DR CCDS; CCDS10197.2; -. [Q495B1-5]
DR RefSeq; NP_874362.3; NM_182703.5. [Q495B1-5]
DR AlphaFoldDB; Q495B1; -.
DR SMR; Q495B1; -.
DR BioGRID; 131506; 10.
DR IntAct; Q495B1; 2.
DR STRING; 9606.ENSP00000325895; -.
DR iPTMnet; Q495B1; -.
DR PhosphoSitePlus; Q495B1; -.
DR BioMuta; ANKDD1A; -.
DR DMDM; 288558803; -.
DR MassIVE; Q495B1; -.
DR PaxDb; Q495B1; -.
DR PeptideAtlas; Q495B1; -.
DR PRIDE; Q495B1; -.
DR ProteomicsDB; 61950; -. [Q495B1-5]
DR ProteomicsDB; 61951; -. [Q495B1-1]
DR ProteomicsDB; 61952; -. [Q495B1-2]
DR Antibodypedia; 34927; 102 antibodies from 14 providers.
DR DNASU; 348094; -.
DR Ensembl; ENST00000319580.13; ENSP00000325895.9; ENSG00000166839.17. [Q495B1-5]
DR GeneID; 348094; -.
DR KEGG; hsa:348094; -.
DR MANE-Select; ENST00000319580.13; ENSP00000325895.9; NM_182703.6; NP_874362.3.
DR UCSC; uc002anz.4; human. [Q495B1-5]
DR CTD; 348094; -.
DR DisGeNET; 348094; -.
DR GeneCards; ANKDD1A; -.
DR HGNC; HGNC:28002; ANKDD1A.
DR HPA; ENSG00000166839; Low tissue specificity.
DR neXtProt; NX_Q495B1; -.
DR OpenTargets; ENSG00000166839; -.
DR PharmGKB; PA143485299; -.
DR VEuPathDB; HostDB:ENSG00000166839; -.
DR eggNOG; KOG4177; Eukaryota.
DR GeneTree; ENSGT00940000154170; -.
DR InParanoid; Q495B1; -.
DR OMA; LMIAEFN; -.
DR OrthoDB; 1073550at2759; -.
DR PhylomeDB; Q495B1; -.
DR TreeFam; TF333615; -.
DR PathwayCommons; Q495B1; -.
DR SignaLink; Q495B1; -.
DR BioGRID-ORCS; 348094; 13 hits in 1066 CRISPR screens.
DR ChiTaRS; ANKDD1A; human.
DR GenomeRNAi; 348094; -.
DR Pharos; Q495B1; Tdark.
DR PRO; PR:Q495B1; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q495B1; protein.
DR Bgee; ENSG00000166839; Expressed in tendon of biceps brachii and 163 other tissues.
DR ExpressionAtlas; Q495B1; baseline and differential.
DR Genevisible; Q495B1; HS.
DR GO; GO:0007165; P:signal transduction; IEA:InterPro.
DR Gene3D; 1.10.533.10; -; 1.
DR Gene3D; 1.25.40.20; -; 4.
DR InterPro; IPR039194; AKD1A.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR011029; DEATH-like_dom_sf.
DR InterPro; IPR000488; Death_domain.
DR PANTHER; PTHR24125:SF0; PTHR24125:SF0; 1.
DR Pfam; PF00023; Ank; 1.
DR Pfam; PF12796; Ank_2; 2.
DR Pfam; PF13637; Ank_4; 1.
DR PRINTS; PR01415; ANKYRIN.
DR SMART; SM00248; ANK; 10.
DR SUPFAM; SSF47986; SSF47986; 1.
DR SUPFAM; SSF48403; SSF48403; 1.
DR PROSITE; PS50297; ANK_REP_REGION; 1.
DR PROSITE; PS50088; ANK_REPEAT; 8.
DR PROSITE; PS50017; DEATH_DOMAIN; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ANK repeat; Reference proteome; Repeat.
FT CHAIN 1..522
FT /note="Ankyrin repeat and death domain-containing protein
FT 1A"
FT /id="PRO_0000287882"
FT REPEAT 14..43
FT /note="ANK 1"
FT REPEAT 47..76
FT /note="ANK 2"
FT REPEAT 90..119
FT /note="ANK 3"
FT REPEAT 123..152
FT /note="ANK 4"
FT REPEAT 158..187
FT /note="ANK 5"
FT REPEAT 191..220
FT /note="ANK 6"
FT REPEAT 224..253
FT /note="ANK 7"
FT REPEAT 257..286
FT /note="ANK 8"
FT REPEAT 290..319
FT /note="ANK 9"
FT REPEAT 323..352
FT /note="ANK 10"
FT REPEAT 356..385
FT /note="ANK 11"
FT DOMAIN 413..501
FT /note="Death"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00064"
FT VAR_SEQ 13..41
FT /note="LPLERQLHEAARQNNVGRMQELIGRRVNT -> WDECASPVCLVRPLTNPLD
FT LDKLRGQDPL (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_038676"
FT VAR_SEQ 42..522
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_038677"
FT VAR_SEQ 355..386
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_038678"
FT VAR_SEQ 495..522
FT /note="GWSTMARSQLTATSASRVQMILVPQPPE -> ENIRKKANAAPSAPRRCTAM
FT (in isoform 1)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_038675"
FT VARIANT 355
FT /note="K -> E (in dbSNP:rs34988193)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_032358"
SQ SEQUENCE 522 AA; 57550 MW; B0A26B4EE684A8B5 CRC64;
MQEELAWETD GLLPLERQLH EAARQNNVGR MQELIGRRVN TRARNHVGRV ALHWAAGAGH
EQAVRLLLEH EAAVDEEDAV GALTEARLCF GMNALLLSAW FGHLRILQIL VNSGAKIHCE
SKDGLTLLHC AAQKGHVPVL AFIMEDLEDV ALDHVDKLGR TAFHRAAEHG QLDALDFLVG
SGCDHNVKDK EGNTALHLAA GRGHMAVLQR LVDIGLDLEE QNAEGLTALH SAAGGSHPDC
VQLLLRAGST VNALTQKNLS CLHYAALSGS EDVSRVLIHA GGCANVVDHQ GASPLHLAVR
HNFPALVRLL INSDSDVNAV DNRQQTPLHL AAEHAWQDIA DMLLIAGVDL NLRDKQGKTA
LAVAVRSNHV SLVDMIIKAD RFYRWEKDHP SDPSGKSLSF KQDHRQETQQ LRSVLWRLAS
RYLQPREWKK LAYSWEFTEA HVDAIEQQWT GTRSYQEHGH RMLLIWLHGV ATAGENPSKA
LFEGLVAIGR RDLAGWSTMA RSQLTATSAS RVQMILVPQP PE
