D19L2_MOUSE
ID D19L2_MOUSE Reviewed; 773 AA.
AC P0CW70;
DT 03-MAY-2011, integrated into UniProtKB/Swiss-Prot.
DT 03-MAY-2011, sequence version 1.
DT 03-AUG-2022, entry version 62.
DE RecName: Full=Probable C-mannosyltransferase DPY19L2;
DE EC=2.4.1.- {ECO:0000250|UniProtKB:P34413};
DE AltName: Full=Dpy-19-like protein 2;
DE AltName: Full=Protein dpy-19 homolog 2;
GN Name=Dpy19l2;
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 [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 [2]
RP TISSUE SPECIFICITY.
RX PubMed=21397064; DOI=10.1016/j.ajhg.2011.02.007;
RA Harbuz R., Zouari R., Pierre V., Ben Khelifa M., Kharouf M., Coutton C.,
RA Merdassi G., Abada F., Escoffier J., Nikas Y., Vialard F., Koscinski I.,
RA Triki C., Sermondade N., Schweitzer T., Zhioua A., Zhioua F., Latrous H.,
RA Halouani L., Ouafi M., Makni M., Jouk P.S., Sele B., Hennebicq S.,
RA Satre V., Viville S., Arnoult C., Lunardi J., Ray P.F.;
RT "A recurrent deletion of DPY19L2 causes infertility in man by blocking
RT sperm head elongation and acrosome formation.";
RL Am. J. Hum. Genet. 88:351-361(2011).
RN [3]
RP SUBCELLULAR LOCATION, DISRUPTION PHENOTYPE, SUBUNIT, FUNCTION, AND
RP TOPOLOGY.
RX PubMed=22764053; DOI=10.1242/dev.077982;
RA Pierre V., Martinez G., Coutton C., Delaroche J., Yassine S., Novella C.,
RA Pernet-Gallay K., Hennebicq S., Ray P.F., Arnoult C.;
RT "Absence of Dpy19l2, a new inner nuclear membrane protein, causes
RT globozoospermia in mice by preventing the anchoring of the acrosome to the
RT nucleus.";
RL Development 139:2955-2965(2012).
RN [4]
RP SUBCELLULAR LOCATION, INTERACTION WITH FAM209, AND FUNCTION.
RX PubMed=34471926; DOI=10.1242/jcs.259206;
RA Castaneda J.M., Shimada K., Satouh Y., Yu Z., Devlin D.J., Ikawa M.,
RA Matzuk M.M.;
RT "FAM209 associates with DPY19L2, and is required for sperm acrosome
RT biogenesis and fertility in mice.";
RL J. Cell Sci. 134:0-0(2021).
CC -!- FUNCTION: Probable C-mannosyltransferase that mediates C-mannosylation
CC of tryptophan residues on target proteins.
CC {ECO:0000250|UniProtKB:P34413}.
CC -!- FUNCTION: Required during spermatogenesis for sperm head elongation and
CC acrosome formation. Also plays a role in acrosome attachment to the
CC nuclear envelope. {ECO:0000269|PubMed:22764053,
CC ECO:0000269|PubMed:34471926}.
CC -!- SUBUNIT: Interacts with FAM209. {ECO:0000269|PubMed:34471926}.
CC -!- SUBCELLULAR LOCATION: Nucleus inner membrane
CC {ECO:0000269|PubMed:22764053, ECO:0000269|PubMed:34471926}; Multi-pass
CC membrane protein {ECO:0000305}. Note=Restricted to the inner nuclear
CC membrane facing the acrosomal vesicle. The N- and C-termini are
CC oriented towards the nucleoplasm (PubMed:22764053). Colocalizes with
CC FAM209 at the inner nuclear membrane (PubMed:34471926).
CC {ECO:0000269|PubMed:22764053, ECO:0000269|PubMed:34471926}.
CC -!- TISSUE SPECIFICITY: Predominantly expressed in testis. Present in
CC testis but absent from epididymal sperm (at protein level).
CC {ECO:0000269|PubMed:21397064}.
CC -!- DISRUPTION PHENOTYPE: Deficient male exhibit sterility associated with
CC globozoospermia. {ECO:0000269|PubMed:22764053}.
CC -!- SIMILARITY: Belongs to the dpy-19 family. {ECO:0000305}.
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DR EMBL; AC154463; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CT025664; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS52743.1; -.
DR RefSeq; NP_001159679.1; NM_001166207.1.
DR AlphaFoldDB; P0CW70; -.
DR STRING; 10090.ENSMUSP00000132092; -.
DR iPTMnet; P0CW70; -.
DR PhosphoSitePlus; P0CW70; -.
DR MaxQB; P0CW70; -.
DR PaxDb; P0CW70; -.
DR PeptideAtlas; P0CW70; -.
DR PRIDE; P0CW70; -.
DR ProteomicsDB; 279308; -.
DR Antibodypedia; 53106; 127 antibodies from 19 providers.
DR Ensembl; ENSMUST00000133010; ENSMUSP00000132092; ENSMUSG00000085576.
DR GeneID; 320752; -.
DR KEGG; mmu:320752; -.
DR UCSC; uc009opc.2; mouse.
DR CTD; 283417; -.
DR MGI; MGI:2444662; Dpy19l2.
DR VEuPathDB; HostDB:ENSMUSG00000085576; -.
DR eggNOG; KOG4587; Eukaryota.
DR GeneTree; ENSGT00530000063023; -.
DR HOGENOM; CLU_014404_0_1_1; -.
DR InParanoid; P0CW70; -.
DR OMA; WLIQGCA; -.
DR OrthoDB; 1115173at2759; -.
DR PhylomeDB; P0CW70; -.
DR TreeFam; TF313376; -.
DR BioGRID-ORCS; 320752; 3 hits in 73 CRISPR screens.
DR ChiTaRS; Dpy19l2; mouse.
DR PRO; PR:P0CW70; -.
DR Proteomes; UP000000589; Chromosome 9.
DR RNAct; P0CW70; protein.
DR Bgee; ENSMUSG00000085576; Expressed in spermatocyte and 14 other tissues.
DR Genevisible; P0CW70; MM.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005637; C:nuclear inner membrane; IDA:UniProtKB.
DR GO; GO:0000030; F:mannosyltransferase activity; IBA:GO_Central.
DR GO; GO:0018406; P:protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan; IBA:GO_Central.
DR GO; GO:0007286; P:spermatid development; IMP:UniProtKB.
DR InterPro; IPR018732; Dpy-19/Dpy-19-like.
DR InterPro; IPR030042; DPY19L2.
DR PANTHER; PTHR31488; PTHR31488; 1.
DR PANTHER; PTHR31488:SF6; PTHR31488:SF6; 1.
DR Pfam; PF10034; Dpy19; 1.
PE 1: Evidence at protein level;
KW Developmental protein; Differentiation; Glycosyltransferase; Membrane;
KW Nucleus; Reference proteome; Spermatogenesis; Transferase; Transmembrane;
KW Transmembrane helix.
FT CHAIN 1..773
FT /note="Probable C-mannosyltransferase DPY19L2"
FT /id="PRO_0000408327"
FT TOPO_DOM 1..122
FT /note="Nuclear"
FT /evidence="ECO:0000269|PubMed:22764053"
FT TRANSMEM 123..143
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 144..209
FT /note="Perinuclear space"
FT /evidence="ECO:0000305"
FT TRANSMEM 210..230
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 231..256
FT /note="Nuclear"
FT /evidence="ECO:0000305"
FT TRANSMEM 257..277
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 278..311
FT /note="Perinuclear space"
FT /evidence="ECO:0000305"
FT TRANSMEM 312..332
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 333..358
FT /note="Nuclear"
FT /evidence="ECO:0000305"
FT TRANSMEM 359..379
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 380..386
FT /note="Perinuclear space"
FT /evidence="ECO:0000305"
FT TRANSMEM 387..407
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 408..437
FT /note="Nuclear"
FT /evidence="ECO:0000305"
FT TRANSMEM 438..458
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 459..507
FT /note="Perinuclear space"
FT /evidence="ECO:0000305"
FT TRANSMEM 508..528
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 529..548
FT /note="Nuclear"
FT /evidence="ECO:0000305"
FT TRANSMEM 549..569
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 570..590
FT /note="Perinuclear space"
FT /evidence="ECO:0000305"
FT TRANSMEM 591..611
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 612..773
FT /note="Nuclear"
FT /evidence="ECO:0000269|PubMed:22764053"
FT REGION 1..45
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 773 AA; 89882 MW; 72BE45D2458E68C5 CRC64;
MVGPTRSKLR EGSSDRPQSS CTGQARRRWS AATMEPQQER SAPQERTKWS LLQHFLLGGR
KLPSGARNYA ARRIQSLNAQ NYFQLEEVAK LLLLNRFQFL FTLLDHFREK VQALQMHRFS
HRTLFGLAIF VGILHWLHLI TLFENDHHFS HLSSLEREMT FRTEMGLYYS YFKTIIEAPS
FLEGLWMIMN DRLTEYPLVI NTVKRFHLYP EVVIAYWYRT IIGIMNLFGI ETKTCWNVTR
MEPLNEVQSC EGLGDPACFY IGVIFILNGL MMGLFFIYST YLSGSQLGGL ITVACYFFNH
GEATRVMWTP PLRESFSYPF LVLQMYILTI ILRTSTVHKK HYMALCFSNV AFMLPWQFAQ
FILFTQIASL FPMYVVGYIE PSKFQKIIYV NMSSVALCFI LMFGNSMYLS SYYSSCLLVT
WAIMQKKSKI QKLGGTELQF WLIQGCFWWC GTIILKFLTS KICGVSDHIR LSDLIAARIL
RYTDFDTLIY TCAPEFDFME QATPLRYIKT LLLPLILVIT YLIFKKIVRD IMCVLYTNTY
VRKQLLDNAE LIFHTLQLLA FTGLAILIMR LKLFLTPHMC IMASLICSQR LFGWLFCRIH
FENVVFGILT MMSIQGCANL HNQWSIMGEF TNLPQEELIH WIKHSTRPDA VFAGAMPTMA
SIKLSTLRPI VNHPHYEDAD LRARTKIVYS VYSRKSAVEV RNNLLKLHVN YYVLEEAWCV
VRTKPGCSML EIWDVEDPSN AANPPLCSIL LKDSRPYFTT VFQNSMYRVL KIN
