D19L1_HUMAN
ID D19L1_HUMAN Reviewed; 675 AA.
AC Q2PZI1; O94954; Q4G151;
DT 04-DEC-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-JAN-2006, sequence version 1.
DT 03-AUG-2022, entry version 111.
DE RecName: Full=Probable C-mannosyltransferase DPY19L1;
DE EC=2.4.1.-;
DE AltName: Full=Dpy-19-like protein 1;
DE AltName: Full=Protein dpy-19 homolog 1;
GN Name=DPY19L1; Synonyms=GA0500, KIAA0877;
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).
RA Carson A.R., Cheung J., Scherer S.W.;
RT "The Centre for Applied Genomics chromosome 7 annotation project.";
RL Submitted (NOV-2005) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Testis;
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 96-675 (ISOFORM 1).
RC TISSUE=Brain;
RX PubMed=10048485; DOI=10.1093/dnares/5.6.355;
RA Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N.,
RA Tanaka A., Kotani H., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XII. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 5:355-364(1998).
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=2;
CC Name=1;
CC IsoId=Q2PZI1-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q2PZI1-2; Sequence=VSP_029628;
CC -!- TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:16526957}.
CC -!- MISCELLANEOUS: It has been suggested that DPY19L1 has a related
CC pseudogene DPY19L1P1.
CC -!- SIMILARITY: Belongs to the dpy-19 family. {ECO:0000305}.
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DR EMBL; DQ287932; ABB89208.1; -; mRNA.
DR EMBL; BC029591; AAH29591.1; -; mRNA.
DR EMBL; AB020684; BAA74900.1; -; mRNA.
DR CCDS; CCDS43567.1; -. [Q2PZI1-1]
DR RefSeq; NP_056098.1; NM_015283.1. [Q2PZI1-1]
DR AlphaFoldDB; Q2PZI1; -.
DR BioGRID; 116920; 91.
DR IntAct; Q2PZI1; 22.
DR MINT; Q2PZI1; -.
DR STRING; 9606.ENSP00000308695; -.
DR iPTMnet; Q2PZI1; -.
DR PhosphoSitePlus; Q2PZI1; -.
DR SwissPalm; Q2PZI1; -.
DR BioMuta; DPY19L1; -.
DR DMDM; 121941680; -.
DR EPD; Q2PZI1; -.
DR jPOST; Q2PZI1; -.
DR MassIVE; Q2PZI1; -.
DR MaxQB; Q2PZI1; -.
DR PaxDb; Q2PZI1; -.
DR PeptideAtlas; Q2PZI1; -.
DR PRIDE; Q2PZI1; -.
DR ProteomicsDB; 61434; -. [Q2PZI1-1]
DR ProteomicsDB; 61435; -. [Q2PZI1-2]
DR Antibodypedia; 53188; 153 antibodies from 19 providers.
DR DNASU; 23333; -.
DR Ensembl; ENST00000310974.8; ENSP00000308695.4; ENSG00000173852.16. [Q2PZI1-1]
DR GeneID; 23333; -.
DR KEGG; hsa:23333; -.
DR UCSC; uc003tem.5; human. [Q2PZI1-1]
DR CTD; 23333; -.
DR DisGeNET; 23333; -.
DR GeneCards; DPY19L1; -.
DR HGNC; HGNC:22205; DPY19L1.
DR HPA; ENSG00000173852; Low tissue specificity.
DR MIM; 613892; gene.
DR neXtProt; NX_Q2PZI1; -.
DR OpenTargets; ENSG00000173852; -.
DR PharmGKB; PA142671946; -.
DR VEuPathDB; HostDB:ENSG00000173852; -.
DR eggNOG; KOG4587; Eukaryota.
DR GeneTree; ENSGT00530000063023; -.
DR HOGENOM; CLU_014404_0_1_1; -.
DR InParanoid; Q2PZI1; -.
DR PhylomeDB; Q2PZI1; -.
DR TreeFam; TF313376; -.
DR PathwayCommons; Q2PZI1; -.
DR SignaLink; Q2PZI1; -.
DR BioGRID-ORCS; 23333; 12 hits in 1073 CRISPR screens.
DR ChiTaRS; DPY19L1; human.
DR GenomeRNAi; 23333; -.
DR Pharos; Q2PZI1; Tdark.
DR PRO; PR:Q2PZI1; -.
DR Proteomes; UP000005640; Chromosome 7.
DR RNAct; Q2PZI1; protein.
DR Bgee; ENSG00000173852; Expressed in ganglionic eminence and 204 other tissues.
DR ExpressionAtlas; Q2PZI1; baseline and differential.
DR Genevisible; Q2PZI1; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
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; IPR030041; DPY19L1.
DR PANTHER; PTHR31488; PTHR31488; 1.
DR PANTHER; PTHR31488:SF5; PTHR31488:SF5; 1.
DR Pfam; PF10034; Dpy19; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Glycosyltransferase; Membrane; Reference proteome;
KW Transferase; Transmembrane; Transmembrane helix.
FT CHAIN 1..675
FT /note="Probable C-mannosyltransferase DPY19L1"
FT /id="PRO_0000311877"
FT TRANSMEM 66..88
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 156..176
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 186..208
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 236..254
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 260..279
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 286..303
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 309..325
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 334..354
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 414..434
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 449..469
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 491..511
FT /note="Helical"
FT /evidence="ECO:0000255"
FT REGION 1..22
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..590
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_029628"
FT VARIANT 502
FT /note="G -> V (in dbSNP:rs1637696)"
FT /id="VAR_037332"
SQ SEQUENCE 675 AA; 77319 MW; 89B82078AC235F3E CRC64;
MEGRPPPEGR PPPRPRTGRA PRGRRRAVFA AVLHWSHITH LFENDRHFSH LSTLEREMAF
RTEMGLYYSY FKTIVEAPSF LNGVWMIMND KLTEYPLVIN TLKRFNLYPE VILASWYRIY
TKIMDLIGIQ TKICWTVTRG EGLSPIESCE GLGDPACFYV AVIFILNGLM MALFFIYGTY
LSGSRLGGLV TVLCFFFNHG ECTRVMWTPP LRESFSYPFL VLQMLLVTHI LRATKLYRGS
LIALCISNVF FMLPWQFAQF VLLTQIASLF AVYVVGYIDI CKLRKIIYIH MISLALCFVL
MFGNSMLLTS YYASSLVIIW GILAMKPHFL KINVSELSLW VIQGCFWLFG TVILKYLTSK
IFGIADDAHI GNLLTSKFFS YKDFDTLLYT CAAEFDFMEK ETPLRYTKTL LLPVVLVVFV
AIVRKIISDM WGVLAKQQTH VRKHQFDHGE LVYHALQLLA YTALGILIMR LKLFLTPHMC
VMASLICSRQ LFGWLFCKVH PGAIVFAILA AMSIQGSANL QTQWNIVGEF SNLPQEELIE
WIKYSTKPDA VFAGAMPTMA SVKLSALRPI VNHPHYEDAG LRARTKIVYS MYSRKAAEEV
KRELIKLKVN YYILEESWCV RRSKPGCSMP EIWDVEDPAN AGKTPLCNLL VKDSKPHFTT
VFQNSVYKVL EVVKE
