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   24-JAN-2024, entry version 147.
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   GlyGen; Q96M93; 2 sites, 1 O-linked glycan (2 sites).
DR   iPTMnet; Q96M93; -.
DR   PhosphoSitePlus; Q96M93; -.
DR   BioMuta; ADAD1; -.
DR   DMDM; 74732329; -.
DR   MassIVE; Q96M93; -.
DR   PaxDb; 9606-ENSP00000296513; -.
DR   PeptideAtlas; Q96M93; -.
DR   ProteomicsDB; 77315; -. [Q96M93-1]
DR   ProteomicsDB; 77316; -. [Q96M93-2]
DR   ProteomicsDB; 77317; -. [Q96M93-3]
DR   Antibodypedia; 26838; 70 antibodies from 17 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   AGR; HGNC:30713; -.
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; 118472at2759; -.
DR   PhylomeDB; Q96M93; -.
DR   TreeFam; TF315806; -.
DR   PathwayCommons; Q96M93; -.
DR   BioGRID-ORCS; 132612; 15 hits in 1151 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 44 other cell types or tissues.
DR   ExpressionAtlas; Q96M93; baseline and differential.
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   Gene3D; 3.30.160.20; -; 1.
DR   InterPro; IPR002466; A_deamin.
DR   InterPro; IPR044455; ADAD1_DSRM.
DR   InterPro; IPR014720; dsRBD_dom.
DR   PANTHER; PTHR10910:SF103; ADENOSINE DEAMINASE DOMAIN-CONTAINING PROTEIN 1; 1.
DR   PANTHER; PTHR10910; EUKARYOTE SPECIFIC DSRNA BINDING PROTEIN; 1.
DR   Pfam; PF02137; A_deamin; 1.
DR   Pfam; PF00035; dsrm; 1.
DR   SMART; SM00552; ADEAMc; 1.
DR   SMART; SM00358; DSRM; 1.
DR   SUPFAM; SSF54768; dsRNA-binding domain-like; 1.
DR   PROSITE; PS50141; A_DEAMIN_EDITASE; 1.
DR   PROSITE; PS50137; DS_RBD; 1.
DR   Genevisible; Q96M93; HS.
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
//