ADAD1_HUMAN
ID ADAD1_HUMAN Reviewed; 576 AA.
AC Q96M93; A6NKN4; B7WPB0; D3DNX2; Q8IWG6; Q8NA06;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 03-AUG-2022, entry version 139.
DE RecName: Full=Adenosine deaminase domain-containing protein 1;
DE AltName: Full=Testis nuclear RNA-binding protein;
GN Name=ADAD1; Synonyms=TENR;
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] (ISOFORMS 1 AND 3).
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 [2]
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 [3]
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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).
CC -!- FUNCTION: Required for male fertility and normal male germ cell
CC differentiation (By similarity). Plays a role in spermatogenesis (By
CC similarity). Binds to RNA but not to DNA (By similarity).
CC {ECO:0000250|UniProtKB:Q5SUE7}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q5SUE7}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96M93-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96M93-2; Sequence=VSP_029226;
CC Name=3;
CC IsoId=Q96M93-3; Sequence=VSP_029225;
CC -!- SIMILARITY: Belongs to the ADAD family. {ECO:0000305}.
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DR EMBL; AK057303; BAB71416.1; -; mRNA.
DR EMBL; AK093297; BAC04125.1; -; mRNA.
DR EMBL; AC022489; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471056; EAX05228.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX05229.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX05234.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX05230.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX05231.1; -; Genomic_DNA.
DR EMBL; CH471056; EAX05232.1; -; Genomic_DNA.
DR EMBL; BC040229; AAH40229.1; -; mRNA.
DR CCDS; CCDS34058.1; -. [Q96M93-1]
DR CCDS; CCDS54800.1; -. [Q96M93-2]
DR CCDS; CCDS54801.1; -. [Q96M93-3]
DR RefSeq; NP_001152757.1; NM_001159285.1. [Q96M93-2]
DR RefSeq; NP_001152767.1; NM_001159295.1. [Q96M93-3]
DR RefSeq; NP_640336.1; NM_139243.3. [Q96M93-1]
DR RefSeq; XP_005262798.1; XM_005262741.2. [Q96M93-1]
DR RefSeq; XP_005262800.1; XM_005262743.2. [Q96M93-1]
DR RefSeq; XP_005262801.1; XM_005262744.2. [Q96M93-2]
DR RefSeq; XP_011529905.1; XM_011531603.1. [Q96M93-1]
DR AlphaFoldDB; Q96M93; -.
DR SMR; Q96M93; -.
DR STRING; 9606.ENSP00000296513; -.
DR iPTMnet; Q96M93; -.
DR PhosphoSitePlus; Q96M93; -.
DR BioMuta; ADAD1; -.
DR DMDM; 74732329; -.
DR MassIVE; Q96M93; -.
DR PaxDb; Q96M93; -.
DR PeptideAtlas; Q96M93; -.
DR PRIDE; Q96M93; -.
DR ProteomicsDB; 77315; -. [Q96M93-1]
DR ProteomicsDB; 77316; -. [Q96M93-2]
DR ProteomicsDB; 77317; -. [Q96M93-3]
DR Antibodypedia; 26838; 61 antibodies from 16 providers.
DR DNASU; 132612; -.
DR Ensembl; ENST00000296513.7; ENSP00000296513.2; ENSG00000164113.11. [Q96M93-1]
DR Ensembl; ENST00000388724.6; ENSP00000373376.2; ENSG00000164113.11. [Q96M93-2]
DR Ensembl; ENST00000388725.2; ENSP00000373377.2; ENSG00000164113.11. [Q96M93-3]
DR GeneID; 132612; -.
DR KEGG; hsa:132612; -.
DR MANE-Select; ENST00000296513.7; ENSP00000296513.2; NM_139243.4; NP_640336.1.
DR UCSC; uc003ieo.4; human. [Q96M93-1]
DR CTD; 132612; -.
DR DisGeNET; 132612; -.
DR GeneCards; ADAD1; -.
DR HGNC; HGNC:30713; ADAD1.
DR HPA; ENSG00000164113; Tissue enriched (testis).
DR MIM; 614130; gene.
DR neXtProt; NX_Q96M93; -.
DR OpenTargets; ENSG00000164113; -.
DR PharmGKB; PA162375590; -.
DR VEuPathDB; HostDB:ENSG00000164113; -.
DR eggNOG; KOG2777; Eukaryota.
DR GeneTree; ENSGT00940000156842; -.
DR HOGENOM; CLU_005382_4_1_1; -.
DR InParanoid; Q96M93; -.
DR OMA; EKMSGNN; -.
DR OrthoDB; 947117at2759; -.
DR PhylomeDB; Q96M93; -.
DR TreeFam; TF315806; -.
DR PathwayCommons; Q96M93; -.
DR BioGRID-ORCS; 132612; 15 hits in 1071 CRISPR screens.
DR ChiTaRS; ADAD1; human.
DR GenomeRNAi; 132612; -.
DR Pharos; Q96M93; Tbio.
DR PRO; PR:Q96M93; -.
DR Proteomes; UP000005640; Chromosome 4.
DR RNAct; Q96M93; protein.
DR Bgee; ENSG00000164113; Expressed in sperm and 42 other tissues.
DR ExpressionAtlas; Q96M93; baseline and differential.
DR Genevisible; Q96M93; HS.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0001673; C:male germ cell nucleus; IEA:Ensembl.
DR GO; GO:0005730; C:nucleolus; IBA:GO_Central.
DR GO; GO:0003726; F:double-stranded RNA adenosine deaminase activity; IBA:GO_Central.
DR GO; GO:0003725; F:double-stranded RNA binding; IBA:GO_Central.
DR GO; GO:0008251; F:tRNA-specific adenosine deaminase activity; IBA:GO_Central.
DR GO; GO:0006382; P:adenosine to inosine editing; IBA:GO_Central.
DR GO; GO:0006396; P:RNA processing; IBA:GO_Central.
DR GO; GO:0007286; P:spermatid development; IEA:Ensembl.
DR CDD; cd19905; DSRM_ADAD1; 1.
DR InterPro; IPR002466; A_deamin.
DR InterPro; IPR044455; ADAD1_DSRM.
DR InterPro; IPR014720; dsRBD_dom.
DR Pfam; PF02137; A_deamin; 1.
DR Pfam; PF00035; dsrm; 1.
DR SMART; SM00552; ADEAMc; 1.
DR SMART; SM00358; DSRM; 1.
DR PROSITE; PS50141; A_DEAMIN_EDITASE; 1.
DR PROSITE; PS50137; DS_RBD; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Developmental protein; Differentiation; Nucleus;
KW Reference proteome; RNA-binding; Spermatogenesis.
FT CHAIN 1..576
FT /note="Adenosine deaminase domain-containing protein 1"
FT /id="PRO_0000309520"
FT DOMAIN 96..164
FT /note="DRBM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00266"
FT DOMAIN 249..574
FT /note="A to I editase"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00240"
FT VAR_SEQ 1..19
FT /note="MASNNHWFQSSQVPSFAQM -> M (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029225"
FT VAR_SEQ 283..293
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029226"
FT CONFLICT 198
FT /note="H -> Y (in Ref. 1; BAC04125)"
FT /evidence="ECO:0000305"
FT CONFLICT 407
FT /note="Q -> R (in Ref. 1; BAC04125)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 576 AA; 64411 MW; 379A6849ABDEEFAB CRC64;
MASNNHWFQS SQVPSFAQML KKNLPVQPAT KTITTPTGWS SESYGLSKMA SKVTQVTGNF
PEPLLSKNLS SISNPVLPPK KIPKEFIMKY KRGEINPVSA LHQFAQMQRV QLDLKETVTT
GNVMGPYFAF CAVVDGIQYK TGLGQNKKES RSNAAKLALD ELLQLDEPEP RILETSGPPP
FPAEPVVLSE LAYVSKVHYE GRHIQYAKIS QIVKERFNQL ISNRSEYLKY SSSLAAFIIE
RAGQHEVVAI GTGEYNYSQD IKPDGRVLHD THAVVTARRS LLRYFYRQLL LFYSKNPAMM
EKSIFCTEPT SNLLTLKQNI NICLYMNQLP KGSAQIKSQL RLNPHSISAF EANEELCLHV
AVEGKIYLTV YCPKDGVNRI SSMSSSDKLT RWEVLGVQGA LLSHFIQPVY ISSILIGDGN
CSDTRGLEIA IKQRVDDALT SKLPMFYLVN RPHISLVPSA YPLQMNLEYK FLSLNWAQGD
VSLEIVDGLS GKITESSPFK SGMSMASRLC KAAMLSRFNL LAKEAKKELL EAGTYHAAKC
MSASYQEAKC KLKSYLQQHG YGSWIVKSPC IEQFNM
