ANKY1_HUMAN
ID ANKY1_HUMAN Reviewed; 941 AA.
AC Q9P2S6; B2RB78; Q4ZFV3; Q8IYX5; Q8NDK5; Q9H0V8; Q9NX10;
DT 16-MAY-2003, integrated into UniProtKB/Swiss-Prot.
DT 16-MAY-2003, sequence version 2.
DT 03-AUG-2022, entry version 164.
DE RecName: Full=Ankyrin repeat and MYND domain-containing protein 1;
DE AltName: Full=Testis-specific ankyrin-like protein 1;
DE AltName: Full=Zinc finger MYND domain-containing protein 13;
GN Name=ANKMY1; Synonyms=TSAL1, ZMYND13;
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 [MRNA] (ISOFORM 1), AND VARIANT MET-424.
RC TISSUE=Testis;
RA Kato M., Miki Y.;
RT "Testis specific ankyrin like protein.";
RL Submitted (NOV-1999) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP LEU-472.
RC TISSUE=Trachea;
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=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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain;
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).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-522 (ISOFORM 4), AND VARIANT
RP LEU-472.
RC TISSUE=Brain;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 221-941 (ISOFORM 1).
RC TISSUE=Testis;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q9P2S6-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q9P2S6-2; Sequence=VSP_007442, VSP_007445;
CC Name=3;
CC IsoId=Q9P2S6-3; Sequence=VSP_007442, VSP_007443, VSP_007444;
CC Name=4;
CC IsoId=Q9P2S6-4; Sequence=VSP_039104;
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DR EMBL; AB034636; BAA92844.1; -; mRNA.
DR EMBL; AK000506; BAA91213.1; -; mRNA.
DR EMBL; AK314534; BAG37125.1; -; mRNA.
DR EMBL; AC124862; AAX88942.1; -; Genomic_DNA.
DR EMBL; CH471063; EAW71190.1; -; Genomic_DNA.
DR EMBL; BC033495; AAH33495.1; -; mRNA.
DR EMBL; AL136618; CAB66553.1; -; mRNA.
DR EMBL; AL833866; CAD38724.1; -; mRNA.
DR CCDS; CCDS2535.1; -. [Q9P2S6-2]
DR CCDS; CCDS2536.1; -. [Q9P2S6-1]
DR RefSeq; NP_001269709.1; NM_001282780.1.
DR RefSeq; NP_001269710.1; NM_001282781.1.
DR RefSeq; NP_001295304.1; NM_001308375.1.
DR RefSeq; NP_057636.2; NM_016552.3. [Q9P2S6-1]
DR RefSeq; NP_060314.2; NM_017844.3. [Q9P2S6-2]
DR AlphaFoldDB; Q9P2S6; -.
DR SMR; Q9P2S6; -.
DR BioGRID; 119433; 2.
DR STRING; 9606.ENSP00000385887; -.
DR iPTMnet; Q9P2S6; -.
DR PhosphoSitePlus; Q9P2S6; -.
DR BioMuta; ANKMY1; -.
DR DMDM; 30912747; -.
DR MassIVE; Q9P2S6; -.
DR PaxDb; Q9P2S6; -.
DR PeptideAtlas; Q9P2S6; -.
DR PRIDE; Q9P2S6; -.
DR ProteomicsDB; 83890; -. [Q9P2S6-1]
DR ProteomicsDB; 83891; -. [Q9P2S6-2]
DR ProteomicsDB; 83892; -. [Q9P2S6-3]
DR ProteomicsDB; 83893; -. [Q9P2S6-4]
DR Antibodypedia; 20289; 122 antibodies from 15 providers.
DR DNASU; 51281; -.
DR Ensembl; ENST00000272972.7; ENSP00000272972.3; ENSG00000144504.16. [Q9P2S6-1]
DR Ensembl; ENST00000361678.8; ENSP00000355097.4; ENSG00000144504.16. [Q9P2S6-2]
DR Ensembl; ENST00000405523.7; ENSP00000385635.3; ENSG00000144504.16. [Q9P2S6-3]
DR GeneID; 51281; -.
DR KEGG; hsa:51281; -.
DR UCSC; uc002vyz.3; human. [Q9P2S6-1]
DR CTD; 51281; -.
DR DisGeNET; 51281; -.
DR GeneCards; ANKMY1; -.
DR HGNC; HGNC:20987; ANKMY1.
DR HPA; ENSG00000144504; Tissue enhanced (testis).
DR neXtProt; NX_Q9P2S6; -.
DR OpenTargets; ENSG00000144504; -.
DR PharmGKB; PA134925670; -.
DR VEuPathDB; HostDB:ENSG00000144504; -.
DR eggNOG; ENOG502QQJP; Eukaryota.
DR GeneTree; ENSGT00460000041630; -.
DR HOGENOM; CLU_050860_0_0_1; -.
DR InParanoid; Q9P2S6; -.
DR OMA; NNEAGPP; -.
DR OrthoDB; 323321at2759; -.
DR PhylomeDB; Q9P2S6; -.
DR TreeFam; TF328860; -.
DR PathwayCommons; Q9P2S6; -.
DR BioGRID-ORCS; 51281; 10 hits in 1078 CRISPR screens.
DR ChiTaRS; ANKMY1; human.
DR GenomeRNAi; 51281; -.
DR Pharos; Q9P2S6; Tbio.
DR PRO; PR:Q9P2S6; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q9P2S6; protein.
DR Bgee; ENSG00000144504; Expressed in right uterine tube and 115 other tissues.
DR ExpressionAtlas; Q9P2S6; baseline and differential.
DR Genevisible; Q9P2S6; HS.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR Gene3D; 1.25.40.20; -; 3.
DR InterPro; IPR002110; Ankyrin_rpt.
DR InterPro; IPR036770; Ankyrin_rpt-contain_sf.
DR InterPro; IPR003409; MORN.
DR InterPro; IPR002893; Znf_MYND.
DR Pfam; PF00023; Ank; 1.
DR Pfam; PF12796; Ank_2; 2.
DR Pfam; PF02493; MORN; 3.
DR Pfam; PF01753; zf-MYND; 1.
DR SMART; SM00248; ANK; 6.
DR SMART; SM00698; MORN; 3.
DR SUPFAM; SSF48403; SSF48403; 2.
DR PROSITE; PS50297; ANK_REP_REGION; 2.
DR PROSITE; PS50088; ANK_REPEAT; 4.
DR PROSITE; PS01360; ZF_MYND_1; 1.
DR PROSITE; PS50865; ZF_MYND_2; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; ANK repeat; Metal-binding; Reference proteome;
KW Repeat; Zinc; Zinc-finger.
FT CHAIN 1..941
FT /note="Ankyrin repeat and MYND domain-containing protein 1"
FT /id="PRO_0000066894"
FT REPEAT 2..24
FT /note="MORN 1"
FT REPEAT 25..47
FT /note="MORN 2"
FT REPEAT 70..92
FT /note="MORN 3"
FT REPEAT 292..321
FT /note="ANK 1"
FT REPEAT 513..542
FT /note="ANK 2"
FT REPEAT 545..574
FT /note="ANK 3"
FT REPEAT 581..613
FT /note="ANK 4"
FT REPEAT 657..691
FT /note="ANK 5"
FT REPEAT 694..723
FT /note="ANK 6"
FT REPEAT 737..766
FT /note="ANK 7"
FT ZN_FING 880..920
FT /note="MYND-type"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 880
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 883
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 894
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 897
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 903
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 907
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 916
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT BINDING 920
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /ligand_label="2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00134"
FT VAR_SEQ 1..301
FT /note="MYQGEFGLNMKLGYGKFSWPTGESYHGQFYRDHCHGLGTYMWPDGSSFTGTF
FT YLSHREGYGTMYMKTRLFQGLYKADQRFGPGVETYPDGSQDVGLWFREQLIKLCTQIPS
FT GFSLLRYPEFSSFITHSPARISLSEEEKTEWGLQEGQDPFFYDYKRFLLNDNLTLPPEM
FT YVYSTNSDHLPMTSSFRKELDARIFLNEIPPFVEDGEPWFIINETPLLVKIQKQTYKFR
FT NKPAHTSWNMGAILEGKRSGFAPCGPKEQLSMEMILKAEEGNHEWICRILKDNFASADV
FT ADAKGYTVLAAAA -> MEGAHASLSLEDEVSGAGSRQRPLEGKGGETPAAEEPGSLKN
FT YAVFATRDVSAAPEKEEEEAEGPLRAQDLRESYIQLVQGVQEWQDGCMYQGEFGLNMKL
FT GYGKFSWPTGESYHGQFYRDHCHGLGTYMWPDGSSFTGTFYLSHREGYGTMYMKTRLFQ
FT (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_007442"
FT VAR_SEQ 72..301
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:11230166"
FT /id="VSP_039104"
FT VAR_SEQ 580
FT /note="L -> C (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_007443"
FT VAR_SEQ 581..941
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_007444"
FT VAR_SEQ 627..709
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_007445"
FT VARIANT 89
FT /note="D -> N (in dbSNP:rs35278753)"
FT /id="VAR_048264"
FT VARIANT 424
FT /note="I -> M (in dbSNP:rs35996697)"
FT /evidence="ECO:0000269|Ref.1"
FT /id="VAR_048265"
FT VARIANT 451
FT /note="D -> V (in dbSNP:rs3796118)"
FT /id="VAR_048266"
FT VARIANT 472
FT /note="V -> L (in dbSNP:rs3821348)"
FT /evidence="ECO:0000269|PubMed:11230166,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_048267"
FT VARIANT 649
FT /note="T -> M (in dbSNP:rs35044862)"
FT /id="VAR_048268"
FT CONFLICT 455
FT /note="N -> D (in Ref. 6; CAB66553)"
FT /evidence="ECO:0000305"
FT CONFLICT 531
FT /note="K -> E (in Ref. 2; BAA91213)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 941 AA; 105516 MW; E6FCEE5C22EBD30A CRC64;
MYQGEFGLNM KLGYGKFSWP TGESYHGQFY RDHCHGLGTY MWPDGSSFTG TFYLSHREGY
GTMYMKTRLF QGLYKADQRF GPGVETYPDG SQDVGLWFRE QLIKLCTQIP SGFSLLRYPE
FSSFITHSPA RISLSEEEKT EWGLQEGQDP FFYDYKRFLL NDNLTLPPEM YVYSTNSDHL
PMTSSFRKEL DARIFLNEIP PFVEDGEPWF IINETPLLVK IQKQTYKFRN KPAHTSWNMG
AILEGKRSGF APCGPKEQLS MEMILKAEEG NHEWICRILK DNFASADVAD AKGYTVLAAA
ATHCHNDIVN LLLDCGADVN KCSDEGLTAL SMCFLLHYPA QSFKPNVAER TIPEPQEPPK
FPVVPILSSS FMDTNLESLY YEVNVPSQGS YELRPPPAPL LLPRVSGSHE GGHFQDTGQC
GGSIDHRSSS LKGDSPLVKG SLGHVESGLE DVLGNTDRGS LCSAETKFES NVCVCDFSIE
LSQAMLERSA QSHSLLKMAS PSPCTSSFDK GTMRRMALSM IERRKRWRTI KLLLRRGADP
NLCCVPMQVL FLAVKAGDVD GVRLLLEHGA RTDICFPPQL STLTPLHIAA ALPGEEGVQI
VELLLHAITD VDAKASDEDD TYKPGKLDLL PSSLKLSNEP GPPQAYYSTD TALPEEGGRT
ALHMACERED DNKCARDIVR LLLSHGANPN LLWSGHSPLS LSIASGNELV VKELLTQGAD
PNLPLTKGLG SALCVACDLT YEHQRNMDSK LALIDRLISH GADILKPVML RQGEKEAVGT
AVDYGYFRFF QDRRIARCPF HTLMPAERET FLARKRLLEY MGLQLRQAVF AKESQWDPTW
LYLCKRAELI PSHRMKKKGP SLPRGLDVKE QGQIPFFKFC YQCGRSIGVR LLPCPRCYGI
LTCSKYCKTK AWTEFHKKDC GDLVAIVTQL EQVSRRREEF Q
