D19L4_HUMAN
ID D19L4_HUMAN Reviewed; 723 AA.
AC Q7Z388; Q6ZW32; Q6ZW42; Q7Z329;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 01-OCT-2003, sequence version 1.
DT 03-AUG-2022, entry version 127.
DE RecName: Full=Probable C-mannosyltransferase DPY19L4;
DE EC=2.4.1.-;
DE AltName: Full=Dpy-19-like protein 4;
DE AltName: Full=Protein dpy-19 homolog 4;
GN Name=DPY19L4;
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].
RC TISSUE=Tongue;
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].
RC TISSUE=Colon endothelium, and Uterus;
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 NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Eye;
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 [5]
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).
RN [6]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, CLEAVAGE OF INITIATOR
RP METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION BY MASS SPECTROMETRY
RP [LARGE SCALE ANALYSIS].
RX PubMed=22814378; DOI=10.1073/pnas.1210303109;
RA Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A.,
RA Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E.,
RA Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.;
RT "N-terminal acetylome analyses and functional insights of the N-terminal
RT acetyltransferase NatB.";
RL Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012).
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 -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16526957}.
CC -!- SIMILARITY: Belongs to the dpy-19 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC85664.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR EMBL; AK123618; BAC85664.1; ALT_INIT; mRNA.
DR EMBL; AK123682; BAC85675.1; -; mRNA.
DR EMBL; BX538048; CAD97987.1; -; mRNA.
DR EMBL; BX538174; CAD98049.1; -; mRNA.
DR EMBL; CH471060; EAW91723.1; -; Genomic_DNA.
DR EMBL; BC110870; AAI10871.1; -; mRNA.
DR EMBL; BC126193; AAI26194.1; -; mRNA.
DR EMBL; BC130576; AAI30577.1; -; mRNA.
DR CCDS; CCDS34924.1; -.
DR RefSeq; NP_861452.2; NM_181787.2.
DR AlphaFoldDB; Q7Z388; -.
DR BioGRID; 130313; 48.
DR IntAct; Q7Z388; 15.
DR STRING; 9606.ENSP00000389630; -.
DR GlyConnect; 1627; 4 N-Linked glycans (2 sites).
DR GlyGen; Q7Z388; 3 sites, 4 N-linked glycans (2 sites).
DR iPTMnet; Q7Z388; -.
DR PhosphoSitePlus; Q7Z388; -.
DR BioMuta; DPY19L4; -.
DR DMDM; 74713335; -.
DR CPTAC; CPTAC-1488; -.
DR EPD; Q7Z388; -.
DR jPOST; Q7Z388; -.
DR MassIVE; Q7Z388; -.
DR MaxQB; Q7Z388; -.
DR PaxDb; Q7Z388; -.
DR PeptideAtlas; Q7Z388; -.
DR PRIDE; Q7Z388; -.
DR ProteomicsDB; 69011; -.
DR Antibodypedia; 25883; 102 antibodies from 16 providers.
DR DNASU; 286148; -.
DR Ensembl; ENST00000414645.6; ENSP00000389630.2; ENSG00000156162.16.
DR GeneID; 286148; -.
DR KEGG; hsa:286148; -.
DR MANE-Select; ENST00000414645.6; ENSP00000389630.2; NM_181787.3; NP_861452.2.
DR UCSC; uc003ygx.3; human.
DR CTD; 286148; -.
DR GeneCards; DPY19L4; -.
DR HGNC; HGNC:27829; DPY19L4.
DR HPA; ENSG00000156162; Low tissue specificity.
DR MIM; 613895; gene.
DR neXtProt; NX_Q7Z388; -.
DR OpenTargets; ENSG00000156162; -.
DR PharmGKB; PA142671955; -.
DR VEuPathDB; HostDB:ENSG00000156162; -.
DR eggNOG; KOG4587; Eukaryota.
DR GeneTree; ENSGT00530000063023; -.
DR HOGENOM; CLU_014404_1_0_1; -.
DR InParanoid; Q7Z388; -.
DR OMA; YILFQRF; -.
DR OrthoDB; 1115173at2759; -.
DR PhylomeDB; Q7Z388; -.
DR TreeFam; TF313376; -.
DR PathwayCommons; Q7Z388; -.
DR SignaLink; Q7Z388; -.
DR BioGRID-ORCS; 286148; 26 hits in 1075 CRISPR screens.
DR ChiTaRS; DPY19L4; human.
DR GenomeRNAi; 286148; -.
DR Pharos; Q7Z388; Tdark.
DR PRO; PR:Q7Z388; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q7Z388; protein.
DR Bgee; ENSG00000156162; Expressed in adrenal tissue and 195 other tissues.
DR ExpressionAtlas; Q7Z388; baseline and differential.
DR Genevisible; Q7Z388; 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; IPR030040; DPY19L4.
DR PANTHER; PTHR31488; PTHR31488; 1.
DR PANTHER; PTHR31488:SF2; PTHR31488:SF2; 1.
DR Pfam; PF10034; Dpy19; 1.
PE 1: Evidence at protein level;
KW Acetylation; Glycosyltransferase; Membrane; Reference proteome;
KW Transferase; Transmembrane; Transmembrane helix.
FT INIT_MET 1
FT /note="Removed"
FT /evidence="ECO:0007744|PubMed:22814378"
FT CHAIN 2..723
FT /note="Probable C-mannosyltransferase DPY19L4"
FT /id="PRO_0000311881"
FT TRANSMEM 52..72
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 161..178
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 184..202
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 222..240
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 260..280
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 292..310
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 316..337
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 349..370
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 421..441
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 466..486
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 489..509
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 522..542
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..33
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 2
FT /note="N-acetylalanine"
FT /evidence="ECO:0007744|PubMed:22814378"
FT CONFLICT 3
FT /note="E -> D (in Ref. 2; CAD98049)"
FT /evidence="ECO:0000305"
FT CONFLICT 440
FT /note="I -> T (in Ref. 1; BAC85664)"
FT /evidence="ECO:0000305"
FT CONFLICT 654
FT /note="M -> T (in Ref. 1; BAC85675)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 723 AA; 83756 MW; F1B385FF181F7193 CRC64;
MAEEEGPPVE LRQRKKPKSS ENKESAKEEK ISDIPIPERA PKHVLFQRFA KIFIGCLAAV
TSGMMYALYL SAYHERKFWF SNRQELEREI TFQGDSAIYY SYYKDMLKAP SFERGVYELT
HNNKTVSLKT INAVQQMSLY PELIASILYQ ATGSNEIIEP VYFYIGIVFG LQGIYVTALF
VTSWLMSGTW LAGMLTVAWF VINRVDTTRI EYSIPLRENW ALPYFACQIA ALTGYLKSNL
NTYGERFCYL LMSASTYTFM MMWEYSHYLL FLQAISLFLL DTFSVEQSDK VYEVYKIYIF
SLFLGYLLQF ENPALLVSPL LSLVAALMLA KCLQLNVKKG SFVAKIIKVI NFYLVCTLTI
TLNIIMKMFV PHKENGHMLK FLEVKFGLNM TKNFTMNWLL CQESLQAPSQ DFFLRLTQSS
LLPFYILVLI ICFLSMLQVI FRRINGKSLK ETVTLEDGRI GERPEIIYHV IHTILLGSLA
MVIEGLKYIW IPYVCMLAAF GVCSPELWMT LFKWLRLRTV HPILLALILS MAVPTIIGLS
LWKEFFPRLM TELMELQEFY DPDTVELMTW IKRQAPVAAV FAGSPQLMGA IKLCTGWMVT
SLPLYNDDDL LKRNENIYQI YSKRSAEDIY KILTSYKANY LIVEDAICNE VGPMRGCRVK
DLLDIANGHM VCEEGDKLTY SKYGRFCHEV KINYSPYVNY FTRVYWNRSY FVYKINTVIS
FQS