D19L3_HUMAN
ID D19L3_HUMAN Reviewed; 716 AA.
AC Q6ZPD9; Q68DC7; Q6ZTB7; Q6ZTS2;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 05-JUL-2004, sequence version 1.
DT 03-AUG-2022, entry version 125.
DE RecName: Full=Probable C-mannosyltransferase DPY19L3;
DE EC=2.4.1.-;
DE AltName: Full=Dpy-19-like protein 3;
DE AltName: Full=Protein dpy-19 homolog 3;
GN Name=DPY19L3;
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), AND NUCLEOTIDE SEQUENCE
RP [LARGE SCALE MRNA] OF 235-716 (ISOFORM 2).
RC TISSUE=Brain, Cerebellum, and Trachea;
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 MRNA] (ISOFORM 1).
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 203-716 (ISOFORM 1).
RC TISSUE=Prostate;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP TISSUE SPECIFICITY.
RX PubMed=16526957; DOI=10.1186/1471-2164-7-45;
RA Carson A.R., Cheung J., Scherer S.W.;
RT "Duplication and relocation of the functional DPY19L2 gene within low copy
RT repeats.";
RL BMC Genomics 7:45-45(2006).
CC -!- FUNCTION: Probable C-mannosyltransferase that mediates C-mannosylation
CC of tryptophan residues on target proteins. {ECO:0000250}.
CC -!- INTERACTION:
CC Q6ZPD9-2; Q92876: KLK6; NbExp=3; IntAct=EBI-25888224, EBI-2432309;
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q6ZPD9-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZPD9-2; Sequence=VSP_029634, VSP_029635;
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16526957}.
CC -!- SIMILARITY: Belongs to the dpy-19 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC86508.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK126264; BAC86508.1; ALT_INIT; mRNA.
DR EMBL; AK126757; BAC86676.1; -; mRNA.
DR EMBL; AK129497; BAC85166.1; -; mRNA.
DR EMBL; BC131725; AAI31726.1; -; mRNA.
DR EMBL; CR749459; CAH18293.1; -; mRNA.
DR CCDS; CCDS12422.1; -. [Q6ZPD9-1]
DR RefSeq; NP_001166245.1; NM_001172774.1. [Q6ZPD9-1]
DR RefSeq; NP_997208.2; NM_207325.2. [Q6ZPD9-1]
DR RefSeq; XP_011524828.1; XM_011526526.2. [Q6ZPD9-1]
DR AlphaFoldDB; Q6ZPD9; -.
DR BioGRID; 127110; 25.
DR IntAct; Q6ZPD9; 14.
DR STRING; 9606.ENSP00000344937; -.
DR CAZy; GT98; Glycosyltransferase Family 98.
DR GlyGen; Q6ZPD9; 1 site.
DR iPTMnet; Q6ZPD9; -.
DR PhosphoSitePlus; Q6ZPD9; -.
DR SwissPalm; Q6ZPD9; -.
DR BioMuta; DPY19L3; -.
DR DMDM; 74710923; -.
DR EPD; Q6ZPD9; -.
DR jPOST; Q6ZPD9; -.
DR MassIVE; Q6ZPD9; -.
DR MaxQB; Q6ZPD9; -.
DR PaxDb; Q6ZPD9; -.
DR PeptideAtlas; Q6ZPD9; -.
DR PRIDE; Q6ZPD9; -.
DR ProteomicsDB; 68077; -. [Q6ZPD9-1]
DR ProteomicsDB; 68078; -. [Q6ZPD9-2]
DR Antibodypedia; 2035; 101 antibodies from 15 providers.
DR DNASU; 147991; -.
DR Ensembl; ENST00000342179.9; ENSP00000344937.4; ENSG00000178904.19. [Q6ZPD9-1]
DR Ensembl; ENST00000392250.7; ENSP00000376081.2; ENSG00000178904.19. [Q6ZPD9-1]
DR GeneID; 147991; -.
DR KEGG; hsa:147991; -.
DR MANE-Select; ENST00000392250.7; ENSP00000376081.2; NM_001172774.2; NP_001166245.1.
DR UCSC; uc002ntg.4; human. [Q6ZPD9-1]
DR CTD; 147991; -.
DR DisGeNET; 147991; -.
DR GeneCards; DPY19L3; -.
DR HGNC; HGNC:27120; DPY19L3.
DR HPA; ENSG00000178904; Low tissue specificity.
DR MIM; 613894; gene.
DR neXtProt; NX_Q6ZPD9; -.
DR OpenTargets; ENSG00000178904; -.
DR PharmGKB; PA142671954; -.
DR VEuPathDB; HostDB:ENSG00000178904; -.
DR eggNOG; KOG4587; Eukaryota.
DR GeneTree; ENSGT00530000063023; -.
DR HOGENOM; CLU_014404_1_0_1; -.
DR InParanoid; Q6ZPD9; -.
DR OMA; FSLAWQF; -.
DR OrthoDB; 1115173at2759; -.
DR PhylomeDB; Q6ZPD9; -.
DR TreeFam; TF313376; -.
DR BRENDA; 2.4.1.B72; 2681.
DR PathwayCommons; Q6ZPD9; -.
DR SignaLink; Q6ZPD9; -.
DR BioGRID-ORCS; 147991; 12 hits in 1078 CRISPR screens.
DR ChiTaRS; DPY19L3; human.
DR GenomeRNAi; 147991; -.
DR Pharos; Q6ZPD9; Tbio.
DR PRO; PR:Q6ZPD9; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q6ZPD9; protein.
DR Bgee; ENSG00000178904; Expressed in tibia and 177 other tissues.
DR ExpressionAtlas; Q6ZPD9; baseline and differential.
DR Genevisible; Q6ZPD9; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0005637; C:nuclear inner membrane; IBA:GO_Central.
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 InterPro; IPR018732; Dpy-19/Dpy-19-like.
DR InterPro; IPR030039; DPY19L3.
DR PANTHER; PTHR31488; PTHR31488; 1.
DR PANTHER; PTHR31488:SF4; PTHR31488:SF4; 1.
DR Pfam; PF10034; Dpy19; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Glycosyltransferase; Membrane; Reference proteome;
KW Transferase; Transmembrane; Transmembrane helix.
FT CHAIN 1..716
FT /note="Probable C-mannosyltransferase DPY19L3"
FT /id="PRO_0000311901"
FT TRANSMEM 44..64
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 156..174
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 179..195
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 215..235
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 244..264
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 269..289
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 298..318
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 342..362
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 417..437
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 461..481
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 489..509
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 527..547
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 539..542
FT /note="FWPG -> NQKS (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029634"
FT VAR_SEQ 543..716
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_029635"
FT VARIANT 350
FT /note="M -> V (in dbSNP:rs8105178)"
FT /id="VAR_037336"
FT CONFLICT 482
FT /note="R -> G (in Ref. 1; BAC86676)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 716 AA; 83197 MW; EE76B5A54024A8CC CRC64;
MMSIRQRREI RATEVSEDFP AQEENVKLEN KLPSGCTSRR LWKILSLTIG GTIALCIGLL
TSVYLATLHE NDLWFSNIKE VEREISFRTE CGLYYSYYKQ MLQAPTLVQG FHGLIYDNKT
ESMKTINLLQ RMNIYQEVFL SILYRVLPIQ KYLEPVYFYI YTLFGLQAIY VTALYITSWL
LSGTWLSGLL AAFWYVTNRI DTTRVEFTIP LRENWALPFF AIQIAAITYF LRPNLQPLSE
RLTLLAIFIS TFLFSLTWQF NQFMMLMQAL VLFTLDSLDM LPAVKATWLY GIQITSLLLV
CILQFFNSMI LGSLLISFNL SVFIARKLQK NLKTGSFLNR LGKLLLHLFM VLCLTLFLNN
IIKKILNLKS DEHIFKFLKA KFGLGATRDF DANLYLCEEA FGLLPFNTFG RLSDTLLFYA
YIFVLSITVI VAFVVAFHNL SDSTNQQSVG KMEKGTVDLK PETAYNLIHT ILFGFLALST
MRMKYLWTSH MCVFASFGLC SPEIWELLLK SVHLYNPKRI CIMRYSVPIL ILLYLCYKFW
PGMMDELSEL REFYDPDTVE LMNWINSNTP RKAVFAGSMQ LLAGVKLCTG RTLTNHPHYE
DSSLRERTRA VYQIYAKRAP EEVHALLRSF GTDYVILEDS ICYERRHRRG CRLRDLLDIA
NGHMMDGPGE NDPDLKPADH PRFCEEIKRN LPPYVAYFTR VFQNKTFHVY KLSRNK
