ID   DSEL_HUMAN              Reviewed;        1212 AA.
AC   Q8IZU8; Q17RH1; Q6P5Z3;
DT   20-FEB-2007, integrated into UniProtKB/Swiss-Prot.
DT   20-FEB-2007, sequence version 2.
DT   03-AUG-2022, entry version 127.
DE   RecName: Full=Dermatan-sulfate epimerase-like protein;
DE            EC=5.1.-.-;
DE   Flags: Precursor;
GN   Name=DSEL; Synonyms=C18orf4, NCAG1;
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 [MRNA], AND TISSUE SPECIFICITY.
RX   PubMed=12556911; DOI=10.1038/sj.mp.4001190;
RA   Goossens D., Van Gestel S., Claes S., De Rijk P., Souery D., Massat I.,
RA   Van den Bossche D., Backhovens H., Mendlewicz J., Van Broeckhoven C.,
RA   Del-Favero J.;
RT   "A novel CpG-associated brain-expressed candidate gene for chromosome 18q-
RT   linked bipolar disorder.";
RL   Mol. Psychiatry 8:83-89(2003).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16177791; DOI=10.1038/nature03983;
RA   Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D.,
RA   Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X.,
RA   Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J.,
RA   Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L.,
RA   Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A.,
RA   Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C.,
RA   Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K.,
RA   Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R.,
RA   Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.;
RT   "DNA sequence and analysis of human chromosome 18.";
RL   Nature 437:551-555(2005).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Brain, and Mammary gland;
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   [4]
RP   VARIANT [LARGE SCALE ANALYSIS] GLU-1090.
RX   PubMed=16959974; DOI=10.1126/science.1133427;
RA   Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA   Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA   Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA   Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA   Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA   Velculescu V.E.;
RT   "The consensus coding sequences of human breast and colorectal cancers.";
RL   Science 314:268-274(2006).
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC       protein {ECO:0000305}.
CC   -!- TISSUE SPECIFICITY: Expressed in different brain areas as well as in
CC       multiple other peripheral tissues. {ECO:0000269|PubMed:12556911}.
CC   -!- SIMILARITY: Belongs to the dermatan-sulfate isomerase family.
CC       {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAI17326.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC       Sequence=AAN32895.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR   EMBL; AF480435; AAN32895.1; ALT_INIT; mRNA.
DR   EMBL; AC110597; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC062557; AAH62557.1; ALT_TERM; mRNA.
DR   EMBL; BC117325; AAI17326.1; ALT_INIT; mRNA.
DR   CCDS; CCDS11995.1; -.
DR   RefSeq; NP_115536.1; NM_032160.2.
DR   AlphaFoldDB; Q8IZU8; -.
DR   SMR; Q8IZU8; -.
DR   BioGRID; 124911; 3.
DR   IntAct; Q8IZU8; 1.
DR   STRING; 9606.ENSP00000310565; -.
DR   GlyGen; Q8IZU8; 5 sites.
DR   iPTMnet; Q8IZU8; -.
DR   PhosphoSitePlus; Q8IZU8; -.
DR   BioMuta; DSEL; -.
DR   DMDM; 126215700; -.
DR   EPD; Q8IZU8; -.
DR   jPOST; Q8IZU8; -.
DR   MassIVE; Q8IZU8; -.
DR   MaxQB; Q8IZU8; -.
DR   PaxDb; Q8IZU8; -.
DR   PeptideAtlas; Q8IZU8; -.
DR   PRIDE; Q8IZU8; -.
DR   ProteomicsDB; 71432; -.
DR   Antibodypedia; 77494; 4 antibodies from 4 providers.
DR   DNASU; 92126; -.
DR   Ensembl; ENST00000310045.9; ENSP00000310565.8; ENSG00000171451.15.
DR   Ensembl; ENST00000572659.1; ENSP00000460321.1; ENSG00000262102.1.
DR   GeneID; 92126; -.
DR   KEGG; hsa:92126; -.
DR   MANE-Select; ENST00000310045.9; ENSP00000310565.8; NM_032160.3; NP_115536.2.
DR   UCSC; uc002lke.2; human.
DR   CTD; 92126; -.
DR   DisGeNET; 92126; -.
DR   GeneCards; DSEL; -.
DR   HGNC; HGNC:18144; DSEL.
DR   HPA; ENSG00000171451; Tissue enhanced (brain).
DR   MIM; 611125; gene.
DR   neXtProt; NX_Q8IZU8; -.
DR   OpenTargets; ENSG00000171451; -.
DR   PharmGKB; PA162384097; -.
DR   VEuPathDB; HostDB:ENSG00000171451; -.
DR   eggNOG; ENOG502QPWZ; Eukaryota.
DR   GeneTree; ENSGT00390000006522; -.
DR   HOGENOM; CLU_011348_0_0_1; -.
DR   InParanoid; Q8IZU8; -.
DR   OrthoDB; 588663at2759; -.
DR   PhylomeDB; Q8IZU8; -.
DR   TreeFam; TF334118; -.
DR   BRENDA; 5.1.3.19; 2681.
DR   PathwayCommons; Q8IZU8; -.
DR   Reactome; R-HSA-2022923; Dermatan sulfate biosynthesis.
DR   SignaLink; Q8IZU8; -.
DR   BioGRID-ORCS; 92126; 24 hits in 1064 CRISPR screens.
DR   GenomeRNAi; 92126; -.
DR   Pharos; Q8IZU8; Tdark.
DR   PRO; PR:Q8IZU8; -.
DR   Proteomes; UP000005640; Chromosome 18.
DR   RNAct; Q8IZU8; protein.
DR   Bgee; ENSG00000171451; Expressed in stromal cell of endometrium and 101 other tissues.
DR   Genevisible; Q8IZU8; HS.
DR   GO; GO:0000139; C:Golgi membrane; TAS:Reactome.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0047757; F:chondroitin-glucuronate 5-epimerase activity; IBA:GO_Central.
DR   GO; GO:0008146; F:sulfotransferase activity; IEA:InterPro.
DR   GO; GO:0030204; P:chondroitin sulfate metabolic process; IBA:GO_Central.
DR   GO; GO:0030208; P:dermatan sulfate biosynthetic process; TAS:Reactome.
DR   GO; GO:0030205; P:dermatan sulfate metabolic process; IBA:GO_Central.
DR   Gene3D; 1.50.10.100; -; 1.
DR   Gene3D; 3.40.50.300; -; 1.
DR   InterPro; IPR008929; Chondroitin_lyas.
DR   InterPro; IPR027417; P-loop_NTPase.
DR   InterPro; IPR000863; Sulfotransferase_dom.
DR   Pfam; PF00685; Sulfotransfer_1; 1.
DR   SUPFAM; SSF52540; SSF52540; 1.
PE   2: Evidence at transcript level;
KW   Glycoprotein; Isomerase; Membrane; Reference proteome; Signal;
KW   Transmembrane; Transmembrane helix.
FT   SIGNAL          1..20
FT                   /evidence="ECO:0000255"
FT   CHAIN           21..1212
FT                   /note="Dermatan-sulfate epimerase-like protein"
FT                   /id="PRO_0000278288"
FT   TRANSMEM        764..784
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        803..823
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        28
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        666
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        688
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        709
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   CARBOHYD        874
FT                   /note="N-linked (GlcNAc...) asparagine"
FT                   /evidence="ECO:0000255"
FT   VARIANT         673
FT                   /note="P -> S (in dbSNP:rs2279269)"
FT                   /id="VAR_030833"
FT   VARIANT         730
FT                   /note="Y -> C (in dbSNP:rs12953840)"
FT                   /id="VAR_030834"
FT   VARIANT         832
FT                   /note="T -> S (in dbSNP:rs35479856)"
FT                   /id="VAR_057759"
FT   VARIANT         1090
FT                   /note="K -> E (in a colorectal cancer sample; somatic
FT                   mutation)"
FT                   /evidence="ECO:0000269|PubMed:16959974"
FT                   /id="VAR_036528"
FT   CONFLICT        188
FT                   /note="Missing (in Ref. 3; AAI17326)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   1212 AA;  139238 MW;  B3C52221661234BD CRC64;
     MALMFTGHLL FLALLMFAFS TFEESVSNYS EWAVFTDDID QFKTQKVQDF RPNQKLKKSM
     LHPSLYFDAG EIQAMRQKSR ASHLHLFRAI RSAVTVMLSN PTYYLPPPKH ADFAAKWNEI
     YGNNLPPLAL YCLLCPEDKV AFEFVLEYMD RMVGYKDWLV ENAPGDEVPI GHSLTGFATA
     FDFLYNLLDN HRRQKYLEKI WVITEEMYEY SKVRSWGKQL LHNHQATNMI ALLTGALVTG
     VDKGSKANIW KQAVVDVMEK TMFLLNHIVD GSLDEGVAYG SYTAKSVTQY VFLAQRHFNI
     NNLDNNWLKM HFWFYYATLL PGFQRTVGIA DSNYNWFYGP ESQLVFLDKF ILKNGAGNWL
     AQQIRKHRPK DGPMVPSTAQ RWSTLHTEYI WYDPQLTPQP PADYGTAKIH TFPNWGVVTY
     GAGLPNTQTN TFVSFKSGKL GGRAVYDIVH FQPYSWIDGW RSFNPGHEHP DQNSFTFAPN
     GQVFVSEALY GPKLSHLNNV LVFAPSPSSQ CNKPWEGQLG ECAQWLKWTG EEVGDAAGEI
     ITASQHGEMV FVSGEAVSAY SSAMRLKSVY RALLLLNSQT LLVVDHIERQ EDSPINSVSA
     FFHNLDIDFK YIPYKFMNRY NGAMMDVWDA HYKMFWFDHH GNSPMASIQE AEQAAEFKKR
     WTQFVNVTFQ MEPTITRIAY VFYGPYINVS SCRFIDSSNP GLQISLNVNN TEHVVSIVTD
     YHNLKTRFNY LGFGGFASVA DQGQITRFGL GTQAIVKPVR HDRIIFPFGF KFNIAVGLIL
     CISLVILTFQ WRFYLSFRKL MRWILILVIA LWFIELLDVW STCSQPICAK WTRTEAEGSK
     KSLSSEGHHM DLPDVVITSL PGSGAEILKQ LFFNSSDFLY IRVPTAYIDI PETELEIDSF
     VDACEWKVSD IRSGHFRLLR GWLQSLVQDT KLHLQNIHLH EPNRGKLAQY FAMNKDKKRK
     FKRRESLPEQ RSQMKGAFDR DAEYIRALRR HLVYYPSARP VLSLSSGSWT LKLHFFQEVL
     GASMRALYIV RDPRAWIYSM LYNSKPSLYS LKNVPEHLAK LFKIEGGKGK CNLNSGYAFE
     YEPLRKELSK SKSNAVSLLS HLWLANTAAA LRINTDLLPT SYQLVKFEDI VHFPQKTTER
     IFAFLGIPLS PASLNQILFA TSTNLFYLPY EGEISPTNTN VWKQNLPRDE IKLIENICWT
     LMDRLGYPKF MD