D19P2_HUMAN
ID D19P2_HUMAN Reviewed; 376 AA.
AC Q6ZN68; Q8N9V4; Q8ND62;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 29-APR-2008, sequence version 2.
DT 25-MAY-2022, entry version 87.
DE RecName: Full=Putative C-mannosyltransferase DPY19L2P2;
DE EC=2.4.1.-;
DE AltName: Full=Dpy-19-like protein 2 pseudogene 2;
DE AltName: Full=Protein dpy-19 homolog 2-like 2;
GN Name=DPY19L2P2;
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] (ISOFORMS 1 AND 2).
RC TISSUE=Kidney, and 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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Testis;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP GENE DUPLICATION, AND 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 -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q6ZN68-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6ZN68-2; Sequence=VSP_033400, VSP_033401;
CC Name=3;
CC IsoId=Q6ZN68-3; Sequence=VSP_033399, VSP_033401;
CC -!- TISSUE SPECIFICITY: Fibroblast, lung, lymphoblast, spleen and testis.
CC {ECO:0000269|PubMed:16526957}.
CC -!- SIMILARITY: Belongs to the dpy-19 family. {ECO:0000305}.
CC -!- CAUTION: Could be the product of a pseudogene. {ECO:0000305}.
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DR EMBL; AK093485; BAC04183.1; -; mRNA.
DR EMBL; AK131353; BAD18507.1; -; mRNA.
DR EMBL; AL834175; CAD38872.1; -; mRNA.
DR EMBL; CH471070; EAW83318.1; -; Genomic_DNA.
DR AlphaFoldDB; Q6ZN68; -.
DR GlyGen; Q6ZN68; 1 site.
DR BioMuta; HGNC:21764; -.
DR DMDM; 187471076; -.
DR jPOST; Q6ZN68; -.
DR MassIVE; Q6ZN68; -.
DR MaxQB; Q6ZN68; -.
DR PeptideAtlas; Q6ZN68; -.
DR PRIDE; Q6ZN68; -.
DR GeneCards; DPY19L2P2; -.
DR HGNC; HGNC:21764; DPY19L2P2.
DR neXtProt; NX_Q6ZN68; -.
DR InParanoid; Q6ZN68; -.
DR PhylomeDB; Q6ZN68; -.
DR PathwayCommons; Q6ZN68; -.
DR ChiTaRS; DPY19L2P2; human.
DR Pharos; Q6ZN68; Tdark.
DR PRO; PR:Q6ZN68; -.
DR Proteomes; UP000005640; Unplaced.
DR RNAct; Q6ZN68; protein.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016757; F:glycosyltransferase activity; IEA:UniProtKB-KW.
DR GO; GO:0007286; P:spermatid development; IEA:InterPro.
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 5: Uncertain;
KW Alternative splicing; Glycoprotein; Glycosyltransferase; Membrane;
KW Reference proteome; Transferase; Transmembrane; Transmembrane helix.
FT CHAIN 1..376
FT /note="Putative C-mannosyltransferase DPY19L2P2"
FT /id="PRO_0000332965"
FT TRANSMEM 52..72
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 107..127
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 154..174
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 182..202
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 233..253
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 299..319
FT /note="Helical"
FT /evidence="ECO:0000255"
FT CARBOHYD 32
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..147
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:17974005"
FT /id="VSP_033399"
FT VAR_SEQ 1..65
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_033400"
FT VAR_SEQ 338..376
FT /note="CCLCRCHAYNGKCQAVYTSSHCESSTLRRCRLEAWLQHA -> KQLLEHSEL
FT AFHTLQLLAFTALAILILRLKLFLTQHMCVMASLICS (in isoform 2 and
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_033401"
FT VARIANT 66
FT /note="M -> V (in dbSNP:rs7796589)"
FT /id="VAR_043009"
FT VARIANT 333
FT /note="N -> I (in dbSNP:rs17136078)"
FT /id="VAR_043010"
FT CONFLICT 274
FT /note="I -> T (in Ref. 1; BAD18507)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 376 AA; 43060 MW; 40C668C279E43609 CRC64;
MADSRRVIIA SWYRTFMGIV NLFGLETKTC WNVTRIEPLN EVQSCEGLRD PACFYVGVIF
ILNGLMMGLF FIYGTYLSGT ELGGLITVLC FFFNHGEATC VMWTPPLRES FSYPFLVLQM
YVLTLILRTS SNDRRPFIAL CLSNVAFMLP WQFAQFILFT QIASLFPMYV VGYIEPSKFQ
KIIYMNMISV TLSFILMFGN SMYLSSYYSS SLLMTWAIIL KRNEIQKLGV SKLNCWLIQG
SAWWCGTIIL KFLTSKILGV SDHICLSDLI AAGILRYTDF DTLKYTCSPE FDFMEKATLL
IYTKTLLLPV VMVITCFIFK KTVGDISRVL ATNVYLRCCL CRCHAYNGKC QAVYTSSHCE
SSTLRRCRLE AWLQHA
