ADAD1_MOUSE
ID ADAD1_MOUSE Reviewed; 619 AA.
AC Q5SUE7; A2AAD7; A2AAD8; A2AAV1; Q08EL2; Q3V0N7; Q62309; Q9JLB6;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 21-DEC-2004, sequence version 1.
DT 03-AUG-2022, entry version 114.
DE RecName: Full=Adenosine deaminase domain-containing protein 1;
DE AltName: Full=Testis nuclear RNA-binding protein;
GN Name=Adad1; Synonyms=Tenr;
OS Mus musculus (Mouse).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae;
OC Murinae; Mus; Mus.
OX NCBI_TaxID=10090;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), RNA-BINDING, SUBCELLULAR LOCATION,
RP AND TISSUE SPECIFICITY.
RC STRAIN=CD-1; TISSUE=Testis;
RX PubMed=7543294; DOI=10.1095/biolreprod52.6.1274;
RA Schumacher J.M., Lee K., Edelhoff S., Braun R.E.;
RT "Distribution of Tenr, an RNA-binding protein, in a lattice-like network
RT within the spermatid nucleus in the mouse.";
RL Biol. Reprod. 52:1274-1283(1995).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RC STRAIN=C57BL/6J;
RX PubMed=19468303; DOI=10.1371/journal.pbio.1000112;
RA Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X.,
RA Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y.,
RA Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S.,
RA Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R.,
RA Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K.,
RA Eichler E.E., Ponting C.P.;
RT "Lineage-specific biology revealed by a finished genome assembly of the
RT mouse.";
RL PLoS Biol. 7:E1000112-E1000112(2009).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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 [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 174-619 (ISOFORM 1), AND
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 438-619 (ISOFORM 3).
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=16141072; DOI=10.1126/science.1112014;
RA Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N.,
RA Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K.,
RA Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.,
RA Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R.,
RA Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T.,
RA Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A.,
RA Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B.,
RA Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M.,
RA Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S.,
RA Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E.,
RA Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D.,
RA Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M.,
RA Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H.,
RA Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V.,
RA Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S.,
RA Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H.,
RA Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N.,
RA Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F.,
RA Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G.,
RA Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z.,
RA Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C.,
RA Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y.,
RA Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S.,
RA Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K.,
RA Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R.,
RA van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H.,
RA Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M.,
RA Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C.,
RA Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S.,
RA Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K.,
RA Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M.,
RA Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C.,
RA Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A.,
RA Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.;
RT "The transcriptional landscape of the mammalian genome.";
RL Science 309:1559-1563(2005).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 539-619 (ISOFORM 1).
RC STRAIN=C57BL/6J;
RX PubMed=10779485; DOI=10.1101/gr.10.4.446;
RA Lyons P.A., Armitage N., Argentina F., Denny P., Hill N.J., Lord C.J.,
RA Wilusz M.B., Peterson L.B., Wicker L.S., Todd J.A.;
RT "Congenic mapping of the type 1 diabetes locus, Idd3, to a 780-kb region of
RT mouse chromosome 3: identification of a candidate segment of ancestral DNA
RT by haplotype mapping.";
RL Genome Res. 10:446-453(2000).
RN [6]
RP FUNCTION, AND DISRUPTION PHENOTYPE.
RX PubMed=15649457; DOI=10.1016/j.ydbio.2004.10.009;
RA Connolly C.M., Dearth A.T., Braun R.E.;
RT "Disruption of murine Tenr results in teratospermia and male infertility.";
RL Dev. Biol. 278:13-21(2005).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Testis;
RX PubMed=21183079; DOI=10.1016/j.cell.2010.12.001;
RA Huttlin E.L., Jedrychowski M.P., Elias J.E., Goswami T., Rad R.,
RA Beausoleil S.A., Villen J., Haas W., Sowa M.E., Gygi S.P.;
RT "A tissue-specific atlas of mouse protein phosphorylation and expression.";
RL Cell 143:1174-1189(2010).
RN [8]
RP FUNCTION, DISRUPTION PHENOTYPE, AND TISSUE SPECIFICITY.
RX PubMed=32665638; DOI=10.1038/s41598-020-67834-5;
RA Snyder E., Chukrallah L., Seltzer K., Goodwin L., Braun R.E.;
RT "ADAD1 and ADAD2, testis-specific adenosine deaminase domain-containing
RT proteins, are required for male fertility.";
RL Sci. Rep. 10:11536-11536(2020).
CC -!- FUNCTION: Required for male fertility and normal male germ cell
CC differentiation (PubMed:32665638). Plays a role in spermatogenesis
CC (PubMed:15649457). Binds to RNA but not to DNA (PubMed:15649457).
CC {ECO:0000269|PubMed:15649457, ECO:0000269|PubMed:32665638}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:7543294}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q5SUE7-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q5SUE7-2; Sequence=VSP_029227, VSP_029228;
CC Name=3;
CC IsoId=Q5SUE7-3; Sequence=VSP_029229;
CC -!- TISSUE SPECIFICITY: Testis-specific. Detected in round spermatid cells
CC from stage II-XI (at protein level). Expressed in germ cells from mid-
CC pachytene spermatocytes to mid-round spermatids.
CC {ECO:0000269|PubMed:32665638, ECO:0000269|PubMed:7543294}.
CC -!- DISRUPTION PHENOTYPE: Mice exhibit spermatozoa retention in stage IX
CC tubules and a reduction in the number of sperm in the epididymis,
CC leading to a reduction in fertility (PubMed:15649457). Show defects in
CC germ-cell development (PubMed:32665638). {ECO:0000269|PubMed:15649457,
CC ECO:0000269|PubMed:32665638}.
CC -!- SIMILARITY: Belongs to the ADAD family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=CAM18414.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=CAM28072.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC Sequence=CAM28078.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; X84693; CAA59168.1; -; mRNA.
DR EMBL; AL645753; CAM28065.1; -; Genomic_DNA.
DR EMBL; AL645753; CAM28066.1; -; Genomic_DNA.
DR EMBL; AL645807; CAM28072.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL645966; CAI26206.1; -; Genomic_DNA.
DR EMBL; AL645966; CAM28078.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AL662823; CAM18412.1; -; Genomic_DNA.
DR EMBL; AL662823; CAM18414.1; ALT_SEQ; Genomic_DNA.
DR EMBL; BC107346; AAI07347.1; -; mRNA.
DR EMBL; AK133008; BAE21467.1; -; mRNA.
DR EMBL; AV255684; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AF195956; AAF32273.1; -; Genomic_DNA.
DR CCDS; CCDS17315.1; -. [Q5SUE7-1]
DR PIR; I48840; I48840.
DR RefSeq; NP_033376.2; NM_009350.3. [Q5SUE7-1]
DR RefSeq; XP_006535498.1; XM_006535435.1.
DR AlphaFoldDB; Q5SUE7; -.
DR SMR; Q5SUE7; -.
DR IntAct; Q5SUE7; 1.
DR MINT; Q5SUE7; -.
DR STRING; 10090.ENSMUSP00000115260; -.
DR iPTMnet; Q5SUE7; -.
DR PhosphoSitePlus; Q5SUE7; -.
DR PaxDb; Q5SUE7; -.
DR PRIDE; Q5SUE7; -.
DR ProteomicsDB; 285668; -. [Q5SUE7-1]
DR ProteomicsDB; 285669; -. [Q5SUE7-2]
DR ProteomicsDB; 285670; -. [Q5SUE7-3]
DR Antibodypedia; 26838; 61 antibodies from 16 providers.
DR DNASU; 21744; -.
DR Ensembl; ENSMUST00000144629; ENSMUSP00000115260; ENSMUSG00000027719. [Q5SUE7-1]
DR GeneID; 21744; -.
DR KEGG; mmu:21744; -.
DR UCSC; uc008pag.1; mouse. [Q5SUE7-2]
DR UCSC; uc008pah.1; mouse. [Q5SUE7-1]
DR CTD; 132612; -.
DR MGI; MGI:103258; Adad1.
DR VEuPathDB; HostDB:ENSMUSG00000027719; -.
DR eggNOG; KOG2777; Eukaryota.
DR GeneTree; ENSGT00940000156842; -.
DR InParanoid; Q5SUE7; -.
DR OMA; EKMSGNN; -.
DR OrthoDB; 947117at2759; -.
DR PhylomeDB; Q5SUE7; -.
DR TreeFam; TF315806; -.
DR BioGRID-ORCS; 21744; 2 hits in 72 CRISPR screens.
DR ChiTaRS; Adad1; mouse.
DR PRO; PR:Q5SUE7; -.
DR Proteomes; UP000000589; Chromosome 3.
DR RNAct; Q5SUE7; protein.
DR Bgee; ENSMUSG00000027719; Expressed in seminiferous tubule of testis and 32 other tissues.
DR ExpressionAtlas; Q5SUE7; baseline and differential.
DR Genevisible; Q5SUE7; MM.
DR GO; GO:0005737; C:cytoplasm; IBA:GO_Central.
DR GO; GO:0001673; C:male germ cell nucleus; IDA:MGI.
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:0003723; F:RNA binding; IDA:MGI.
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; IMP:UniProtKB.
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 1: Evidence at protein level;
KW Alternative splicing; Developmental protein; Differentiation; Nucleus;
KW Reference proteome; RNA-binding; Spermatogenesis.
FT CHAIN 1..619
FT /note="Adenosine deaminase domain-containing protein 1"
FT /id="PRO_0000309521"
FT DOMAIN 138..206
FT /note="DRBM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00266"
FT DOMAIN 291..617
FT /note="A to I editase"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00240"
FT REGION 1..50
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 220..222
FT /note="PPP -> KGN (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029227"
FT VAR_SEQ 223..619
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029228"
FT VAR_SEQ 619
FT /note="M -> DKLRRKYFDKFMGWLFQI (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:16141072"
FT /id="VSP_029229"
FT CONFLICT 255
FT /note="V -> L (in Ref. 1; CAA59168)"
FT /evidence="ECO:0000305"
FT CONFLICT 362
FT /note="I -> Y (in Ref. 1; CAA59168)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 619 AA; 67840 MW; 168EC0352B1B70A7 CRC64;
MATAGGSRRA PVPGPRLGLP LAAHLPASLG GEGAKDSVGG EKTSGNNDWF QSSRVPSFAQ
MLKKNLPVQP SAQTVTLPTG YSSESCSLSN MASKVTQVTG NFPEPLLSKG LSSISNPVLP
PKKLPKEFIM KYKRGEINPV SALHQFAQMQ RVQLDLKETV TTGNVMGPYF AFCAVVDGIQ
YKTGLGQNKK ESRSNAAKLA LDELLQLDEP EPRVLEPAGP PPIPAEPVVT PEAAYVSKVQ
YEGRQVQYAK ISQLVKETFG QLISNHSQYL KCSSSLAAFI IERAGHHEVV AIGTGEYNYS
QCIKPNGRVL HDTHAVVTAR RSLLRYFYRQ LLLFYSKNPA MMEKSIFCTE PASNLLTLKQ
NINLYLYMNQ LPKGSAQIKS QLRLNPHSIS AFEANEELSL HVAVEGKIYL TVYCSADGVN
RVNSMSSSDK LTRWEVLGVQ GALLSHFIQP VYISSILVGD GNCNDTRGLE IAINQRVDDA
LTSKLPMFYL VNRPHISLVP TAYPLQINLD HKSLSLNWAQ GDNSLEIVDG LNGKITESSP
FKSGLSMASR LCKAAMLSRF NLLAKEAKTD DLLEARTYHA AKCMSGPYQE AKALLKAYLQ
QHGYGSWIVK SPCIEQFSM