DND1_MOUSE
ID DND1_MOUSE Reviewed; 352 AA.
AC Q6VY05; Q8CFK7;
DT 01-MAR-2005, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 129.
DE RecName: Full=Dead end protein homolog 1;
DE AltName: Full=RNA-binding motif, single-stranded-interacting protein 4;
GN Name=Dnd1; Synonyms=Rbms4, Ter;
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).
RC STRAIN=C57BL/6J; TISSUE=Testis;
RX PubMed=12932328; DOI=10.1016/s0960-9822(03)00537-2;
RA Weidinger G., Stebler J., Slanchev K., Dumstrei K., Wise C.,
RA Lovell-Badge R., Thisse C., Thisse B., Raz E.;
RT "Dead end, a novel vertebrate germ plasm component, is required for
RT zebrafish primordial germ cell migration and survival.";
RL Curr. Biol. 13:1429-1434(2003).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC STRAIN=C57BL/6J; TISSUE=Thymus;
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 [3]
RP TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, AND DISEASE.
RX PubMed=15902260; DOI=10.1038/nature03595;
RA Youngren K.K., Coveney D., Peng X., Bhattacharya C., Schmidt L.S.,
RA Nickerson M.L., Lamb B.T., Deng J.M., Behringer R.R., Capel B., Rubin E.M.,
RA Nadeau J.H., Matin A.;
RT "The Ter mutation in the dead end gene causes germ cell loss and testicular
RT germ cell tumours.";
RL Nature 435:360-364(2005).
RN [4]
RP ALTERNATIVE SPLICING (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION, TISSUE
RP SPECIFICITY, AND DEVELOPMENTAL STAGE.
RX PubMed=17291453; DOI=10.1016/j.bbrc.2007.01.138;
RA Bhattacharya C., Aggarwal S., Zhu R., Kumar M., Zhao M., Meistrich M.L.,
RA Matin A.;
RT "The mouse dead-end gene isoform alpha is necessary for germ cell and
RT embryonic viability.";
RL Biochem. Biophys. Res. Commun. 355:194-199(2007).
RN [5]
RP INTERACTION WITH APOBEC3, SUBCELLULAR LOCATION, AND DEVELOPMENTAL STAGE.
RX PubMed=18509452; DOI=10.1371/journal.pone.0002315;
RA Bhattacharya C., Aggarwal S., Kumar M., Ali A., Matin A.;
RT "Mouse apolipoprotein B editing complex 3 (APOBEC3) is expressed in germ
RT cells and interacts with dead-end (DND1).";
RL PLoS ONE 3:E2315-E2315(2008).
RN [6]
RP METHYLATION [LARGE SCALE ANALYSIS] AT ARG-336, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Brain;
RX PubMed=24129315; DOI=10.1074/mcp.o113.027870;
RA Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V., Aguiar M.,
RA Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C., Vemulapalli V.,
RA Bedford M.T., Comb M.J.;
RT "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT methylation.";
RL Mol. Cell. Proteomics 13:372-387(2014).
CC -!- FUNCTION: RNA-binding factor that positively regulates gene expression
CC by prohibiting miRNA-mediated gene suppression (By similarity).
CC Relieves miRNA repression in germline cells (By similarity). Prohibits
CC the function of several miRNAs by blocking the accessibility of target
CC mRNAs (By similarity). Sequence-specific RNA-binding factor that binds
CC specifically to U-rich regions (URRs) in the 3' untranslated region
CC (3'-UTR) of several mRNAs (By similarity). Does not bind to miRNAs (By
CC similarity). Isoform 1 may play a role during primordial germ cell
CC (PGC) survival. However, does not seem to be essential for PGC
CC migration. {ECO:0000250}.
CC -!- SUBUNIT: Interacts with APOBEC3. {ECO:0000269|PubMed:18509452}.
CC -!- SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=Perinuclear germ
CC granules, also called germ plasm or chromatoid body (By similarity).
CC Colocalizes in perinuclear sites with APOBEC3. {ECO:0000250}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=DND1-alpha;
CC IsoId=Q6VY05-1; Sequence=Displayed;
CC Name=2; Synonyms=DND1-beta;
CC IsoId=Q6VY05-2; Sequence=VSP_012943;
CC -!- TISSUE SPECIFICITY: Isoform 1 and isoform 2 are expressed in testis.
CC Isoform 1 is expressed continuously in post natal (PN) testis although
CC levels are low between PN1 to PN6. Isoform 2 is expressed from PN 20
CC onwards. Isoform 2 is strongly expressed in meiotic and in post-meiotic
CC germ cells of the testis with highest expression at the elongated
CC spermatid stage (at protein level). Expressed in testis and heart.
CC Expressed in germ cells and genital ridges. Not detected in testicular
CC tumors. {ECO:0000269|PubMed:15902260, ECO:0000269|PubMed:17291453}.
CC -!- DEVELOPMENTAL STAGE: Isoform 1, but not isoform 2, is expressed in
CC embryos at 13.5 and 15.5 dpc. Isoform 1, but not isoform 2, is
CC expressed in primordial gonads at 13.5 and 15.5 dpc. Isoform 1, but not
CC isoform 2, is expressed in ES cell lines. Isoform 1, but not isoform 2,
CC is expressed in embryonic germ (EG) cells (at protein level). Detected
CC in the embryo and allantoic bud at 7.5 dpc, in the neuroectoderm at 8.5
CC dpc, and widespread at 9.5 dpc, including the neural tube, head
CC mesenchyme, first branchial arch and the hindgut, through which
CC primordial germ cells are migrating. At 11.5 dpc, also expressed in the
CC XY and XX genital ridges. Expressed in genital ridges at 13.5 dpc.
CC Between 12.5 to 14.5 dpc, up-regulated in the testis cords of the XY
CC gonads and down-regulated in XX gonads. Down-regulation occurs
CC progressively as an anterior to posterior wave.
CC {ECO:0000269|PubMed:15902260, ECO:0000269|PubMed:17291453,
CC ECO:0000269|PubMed:18509452}.
CC -!- DISEASE: Note=Defects in Dnd1 are the cause of the Ter mutation
CC phenotype. Ter mice are characterized by primordial germ cell loss and
CC susceptibility to spontaneous testicular germ cell tumors (TGCT). They
CC are sterile, but viable. Isoform 1 defects may be the cause of tumor
CC development. {ECO:0000269|PubMed:15902260}.
CC -!- MISCELLANEOUS: [Isoform 2]: May be due to intron retention.
CC {ECO:0000305}.
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DR EMBL; AY321066; AAQ63636.1; -; mRNA.
DR EMBL; BC034897; AAH34897.1; -; mRNA.
DR CCDS; CCDS29163.2; -. [Q6VY05-1]
DR RefSeq; NP_775559.2; NM_173383.2. [Q6VY05-1]
DR AlphaFoldDB; Q6VY05; -.
DR SMR; Q6VY05; -.
DR BioGRID; 229409; 2.
DR STRING; 10090.ENSMUSP00000054412; -.
DR iPTMnet; Q6VY05; -.
DR PhosphoSitePlus; Q6VY05; -.
DR PaxDb; Q6VY05; -.
DR PeptideAtlas; Q6VY05; -.
DR PRIDE; Q6VY05; -.
DR ProteomicsDB; 279558; -. [Q6VY05-1]
DR ProteomicsDB; 279559; -. [Q6VY05-2]
DR Antibodypedia; 49888; 228 antibodies from 23 providers.
DR Ensembl; ENSMUST00000061522; ENSMUSP00000054412; ENSMUSG00000044595. [Q6VY05-1]
DR GeneID; 213236; -.
DR KEGG; mmu:213236; -.
DR UCSC; uc008eom.1; mouse. [Q6VY05-2]
DR UCSC; uc008eon.1; mouse. [Q6VY05-1]
DR CTD; 373863; -.
DR MGI; MGI:2447763; Dnd1.
DR VEuPathDB; HostDB:ENSMUSG00000044595; -.
DR eggNOG; KOG0117; Eukaryota.
DR GeneTree; ENSGT00940000159225; -.
DR HOGENOM; CLU_022960_0_0_1; -.
DR InParanoid; Q6VY05; -.
DR OMA; QLWCERV; -.
DR OrthoDB; 1384330at2759; -.
DR PhylomeDB; Q6VY05; -.
DR TreeFam; TF314932; -.
DR BioGRID-ORCS; 213236; 2 hits in 73 CRISPR screens.
DR PRO; PR:Q6VY05; -.
DR Proteomes; UP000000589; Chromosome 18.
DR RNAct; Q6VY05; protein.
DR Bgee; ENSMUSG00000044595; Expressed in gonadal ridge and 92 other tissues.
DR Genevisible; Q6VY05; MM.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005739; C:mitochondrion; ISO:MGI.
DR GO; GO:0005654; C:nucleoplasm; ISO:MGI.
DR GO; GO:0005634; C:nucleus; ISS:UniProtKB.
DR GO; GO:0003730; F:mRNA 3'-UTR binding; ISS:UniProtKB.
DR GO; GO:0003729; F:mRNA binding; IBA:GO_Central.
DR GO; GO:0003723; F:RNA binding; IBA:GO_Central.
DR GO; GO:0061158; P:3'-UTR-mediated mRNA destabilization; ISO:MGI.
DR GO; GO:0007281; P:germ cell development; IMP:MGI.
DR GO; GO:0048255; P:mRNA stabilization; IBA:GO_Central.
DR GO; GO:0060965; P:negative regulation of miRNA-mediated gene silencing; ISS:UniProtKB.
DR GO; GO:0007283; P:spermatogenesis; ISO:MGI.
DR CDD; cd20313; DSRM_DND1; 1.
DR CDD; cd12487; RRM1_DND1; 1.
DR Gene3D; 3.30.70.330; -; 2.
DR InterPro; IPR044448; DND1_DSRM.
DR InterPro; IPR034414; DND1_RRM1.
DR InterPro; IPR012677; Nucleotide-bd_a/b_plait_sf.
DR InterPro; IPR035979; RBD_domain_sf.
DR InterPro; IPR000504; RRM_dom.
DR Pfam; PF00076; RRM_1; 1.
DR SMART; SM00360; RRM; 2.
DR SUPFAM; SSF54928; SSF54928; 1.
DR PROSITE; PS50102; RRM; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cytoplasm; Developmental protein; Methylation;
KW Nucleus; Reference proteome; Repeat; RNA-binding.
FT CHAIN 1..352
FT /note="Dead end protein homolog 1"
FT /id="PRO_0000081569"
FT DOMAIN 58..136
FT /note="RRM 1"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT DOMAIN 138..218
FT /note="RRM 2"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00176"
FT MOD_RES 336
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0007744|PubMed:24129315"
FT VAR_SEQ 1..45
FT /note="MQSKRECEQWCERVNPENKAALEAWVRETGIRLVQVNGQRKYGGP -> MVS
FT LPSPPLPPPPSFILELKNILVDHSNQQNPF (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_012943"
SQ SEQUENCE 352 AA; 39076 MW; 5503E51D413B7161 CRC64;
MQSKRECEQW CERVNPENKA ALEAWVRETG IRLVQVNGQR KYGGPPPGWV GSPPPSGSEV
YIGRLPQDVY EHQLIPLFQR VGRLYEFRLM MTFSGLNRGF AYARYSSRRG AQAAIATLHN
HQLRPSCQLL VCRSTEKCEL TVDGLPLSLN RRALLLALQP FGPCLQETLL LPSPGSAPSQ
IALLKFSTHR AAAMAKKALV EGQSRLCGEQ VAVEWLKPDL KQHFRQQLAG PSLRFLRPDV
SQLTQTREKL GSQGARAALQ LLCQRMKLGS PVFLTKCLGT GPAGWHRFWY QVVIPGHPVP
FSGLIWVVLA SDWQDGHEVA KDAVSAQLLE ALSEPRTSLW SPGAEAGTMV KQ
