ADAD2_HUMAN
ID ADAD2_HUMAN Reviewed; 583 AA.
AC Q8NCV1; B2RCL6; Q8NA94;
DT 13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2002, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Adenosine deaminase domain-containing protein 2 {ECO:0000305};
DE AltName: Full=Testis nuclear RNA-binding protein-like;
GN Name=ADAD2 {ECO:0000312|HGNC:HGNC:30714}; Synonyms=TENRL;
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 1).
RC TISSUE=Testis;
RA Guo J.H., Yu L.;
RL Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANT
RP GLU-44.
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT GLU-44.
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 1).
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. {ECO:0000250|UniProtKB:Q9D5P4}.
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9D5P4}. Cytoplasm
CC {ECO:0000250|UniProtKB:Q9D5P4}. Note=Diffusely cytoplasmic early in
CC pachytene spermatocytes and coalesces into several perinuclear granules
CC by late pachynema. {ECO:0000250|UniProtKB:Q9D5P4}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NCV1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NCV1-2; Sequence=VSP_029230, VSP_029231;
CC -!- SIMILARITY: Belongs to the ADAD family. {ECO:0000305}.
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AF447586; AAM22869.1; -; mRNA.
DR EMBL; AK093046; BAC04032.1; -; mRNA.
DR EMBL; AK315171; BAG37613.1; -; mRNA.
DR EMBL; CH471114; EAW95491.1; -; Genomic_DNA.
DR EMBL; CH471114; EAW95492.1; -; Genomic_DNA.
DR EMBL; BC033491; AAH33491.1; -; mRNA.
DR CCDS; CCDS10944.1; -. [Q8NCV1-2]
DR CCDS; CCDS45536.1; -. [Q8NCV1-1]
DR RefSeq; NP_001138872.1; NM_001145400.1. [Q8NCV1-1]
DR RefSeq; NP_631913.3; NM_139174.3. [Q8NCV1-2]
DR AlphaFoldDB; Q8NCV1; -.
DR SMR; Q8NCV1; -.
DR BioGRID; 127807; 10.
DR iPTMnet; Q8NCV1; -.
DR PhosphoSitePlus; Q8NCV1; -.
DR BioMuta; ADAD2; -.
DR DMDM; 74730183; -.
DR jPOST; Q8NCV1; -.
DR MassIVE; Q8NCV1; -.
DR PaxDb; Q8NCV1; -.
DR PeptideAtlas; Q8NCV1; -.
DR PRIDE; Q8NCV1; -.
DR ProteomicsDB; 72951; -. [Q8NCV1-1]
DR ProteomicsDB; 72952; -. [Q8NCV1-2]
DR Antibodypedia; 30571; 70 antibodies from 20 providers.
DR DNASU; 161931; -.
DR Ensembl; ENST00000268624.7; ENSP00000268624.3; ENSG00000140955.11. [Q8NCV1-2]
DR Ensembl; ENST00000315906.10; ENSP00000325153.6; ENSG00000140955.11. [Q8NCV1-1]
DR GeneID; 161931; -.
DR KEGG; hsa:161931; -.
DR MANE-Select; ENST00000315906.10; ENSP00000325153.6; NM_001145400.2; NP_001138872.1.
DR UCSC; uc002fhq.3; human. [Q8NCV1-1]
DR CTD; 161931; -.
DR DisGeNET; 161931; -.
DR GeneCards; ADAD2; -.
DR HGNC; HGNC:30714; ADAD2.
DR HPA; ENSG00000140955; Tissue enriched (testis).
DR MIM; 619532; gene.
DR neXtProt; NX_Q8NCV1; -.
DR OpenTargets; ENSG00000140955; -.
DR PharmGKB; PA162375591; -.
DR VEuPathDB; HostDB:ENSG00000140955; -.
DR eggNOG; KOG2777; Eukaryota.
DR GeneTree; ENSGT00940000161900; -.
DR HOGENOM; CLU_005382_4_2_1; -.
DR InParanoid; Q8NCV1; -.
DR OMA; SCAGWLE; -.
DR OrthoDB; 947117at2759; -.
DR PhylomeDB; Q8NCV1; -.
DR TreeFam; TF315806; -.
DR PathwayCommons; Q8NCV1; -.
DR BioGRID-ORCS; 161931; 13 hits in 1068 CRISPR screens.
DR GenomeRNAi; 161931; -.
DR Pharos; Q8NCV1; Tdark.
DR PRO; PR:Q8NCV1; -.
DR Proteomes; UP000005640; Chromosome 16.
DR RNAct; Q8NCV1; protein.
DR Bgee; ENSG00000140955; Expressed in right testis and 131 other tissues.
DR ExpressionAtlas; Q8NCV1; baseline and differential.
DR Genevisible; Q8NCV1; HS.
DR GO; GO:0005737; C:cytoplasm; ISS:UniProtKB.
DR GO; GO:0005730; C:nucleolus; IBA:GO_Central.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
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; ISS:UniProtKB.
DR CDD; cd19906; DSRM_ADAD2; 1.
DR InterPro; IPR002466; A_deamin.
DR InterPro; IPR044454; ADAD2_DSRM.
DR InterPro; IPR014720; dsRBD_dom.
DR Pfam; PF02137; A_deamin; 1.
DR Pfam; PF00035; dsrm; 1.
DR SMART; SM00552; ADEAMc; 1.
DR PROSITE; PS50141; A_DEAMIN_EDITASE; 1.
DR PROSITE; PS50137; DS_RBD; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasm; Differentiation; Nucleus;
KW Reference proteome; RNA-binding; Spermatogenesis.
FT CHAIN 1..583
FT /note="Adenosine deaminase domain-containing protein 2"
FT /id="PRO_0000309524"
FT DOMAIN 115..181
FT /note="DRBM"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00266"
FT DOMAIN 261..582
FT /note="A to I editase"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00240"
FT REGION 1..48
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 139
FT /note="P -> PGKVFKYRAPGGEELKAMCLWQVEVLRAFLLRTGWRGLWRGDLDLGP
FT DSSWANRLPFLLICEMESRIPAVEEL (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029230"
FT VAR_SEQ 244
FT /note="R -> RGWAVSAPSCT (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029231"
FT VARIANT 44
FT /note="G -> E (in dbSNP:rs8044695)"
FT /evidence="ECO:0000269|PubMed:14702039, ECO:0000269|Ref.3"
FT /id="VAR_036976"
FT VARIANT 235
FT /note="G -> R (in dbSNP:rs11149631)"
FT /id="VAR_055650"
SQ SEQUENCE 583 AA; 61755 MW; 8F1566C88111FAD7 CRC64;
MASASQGADD DGSRRKPRLA ASLQISPQPR PWRPLPAQAQ SAWGPAPAPA TYRAEGGWPQ
VSVLRDSGPG AGAGVGELGA ARAWENLGEQ MGKAPRVPVP PAGLSLPLKD PPASQAVSLL
TEYAASLGIF LLFREDQPPG PCFPFSVSAE LDGVVCPAGT ANSKTEAKQQ AALSALCYIR
SQLENPESPQ TSSRPPLAPL SVENILTHEQ RCAALVSAGF DLLLDERSPY WACKGTVAGV
ILEREIPRAR GHVKEIYKLV ALGTGSSCCA GWLEFSGQQL HDCHGLVIAR RALLRFLFRQ
LLLATQGGPK GKEQSVLAPQ PGPGPPFTLK PRVFLHLYIS NTPKGAARDI YLPPTSEGGL
PHSPPMRLQA HVLGQLKPVC YVAPSLCDTH VGCLSASDKL ARWAVLGLGG ALLAHLVSPL
YSTSLILADS CHDPPTLSRA IHTRPCLDSV LGPCLPPPYV RTALHLFAGP PVAPSEPTPD
TCRGLSLNWS LGDPGIEVVD VATGRVKANA ALGPPSRLCK ASFLRAFHQA ARAVGKPYLL
ALKTYEAAKA GPYQEARRQL SLLLDQQGLG AWPSKPLVGK FRN
