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Protein

Dermatan-sulfate epimerase-like protein

Gene

DSEL

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Isomerase

Enzyme and pathway databases

BRENDAi5.1.3.19. 2681.
ReactomeiREACT_120800. Dermatan sulfate biosynthesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Dermatan-sulfate epimerase-like protein (EC:5.1.-.-)
Gene namesi
Name:DSEL
Synonyms:C18orf4, NCAG1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componentsi: Chromosome 18, Unplaced

Organism-specific databases

HGNCiHGNC:18144. DSEL.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei764 – 78421HelicalSequence AnalysisAdd
BLAST
Transmembranei803 – 82321HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162384097.

Polymorphism and mutation databases

BioMutaiDSEL.
DMDMi126215700.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 2020Sequence AnalysisAdd
BLAST
Chaini21 – 12121192Dermatan-sulfate epimerase-like proteinPRO_0000278288Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi28 – 281N-linked (GlcNAc...)Sequence Analysis
Glycosylationi666 – 6661N-linked (GlcNAc...)Sequence Analysis
Glycosylationi688 – 6881N-linked (GlcNAc...)Sequence Analysis
Glycosylationi709 – 7091N-linked (GlcNAc...)Sequence Analysis
Glycosylationi874 – 8741N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ8IZU8.
PaxDbiQ8IZU8.
PRIDEiQ8IZU8.

PTM databases

PhosphoSiteiQ8IZU8.

Expressioni

Tissue specificityi

Expressed in different brain areas as well as in multiple other peripheral tissues.1 Publication

Gene expression databases

BgeeiQ8IZU8.
CleanExiHS_DSEL.
GenevisibleiQ8IZU8. HS.

Interactioni

Protein-protein interaction databases

BioGridi124911. 1 interaction.

Structurei

3D structure databases

ProteinModelPortaliQ8IZU8.
SMRiQ8IZU8. Positions 1119-1210.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the dermatan-sulfate isomerase family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG19607.
HOGENOMiHOG000060116.
HOVERGENiHBG081464.
InParanoidiQ8IZU8.
OrthoDBiEOG7RZ5P7.
PhylomeDBiQ8IZU8.
TreeFamiTF334118.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR027417. P-loop_NTPase.
IPR000863. Sulfotransferase_dom.
[Graphical view]
PfamiPF00685. Sulfotransfer_1. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 3 hits.

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q8IZU8-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MALMFTGHLL FLALLMFAFS TFEESVSNYS EWAVFTDDID QFKTQKVQDF
60 70 80 90 100
RPNQKLKKSM LHPSLYFDAG EIQAMRQKSR ASHLHLFRAI RSAVTVMLSN
110 120 130 140 150
PTYYLPPPKH ADFAAKWNEI YGNNLPPLAL YCLLCPEDKV AFEFVLEYMD
160 170 180 190 200
RMVGYKDWLV ENAPGDEVPI GHSLTGFATA FDFLYNLLDN HRRQKYLEKI
210 220 230 240 250
WVITEEMYEY SKVRSWGKQL LHNHQATNMI ALLTGALVTG VDKGSKANIW
260 270 280 290 300
KQAVVDVMEK TMFLLNHIVD GSLDEGVAYG SYTAKSVTQY VFLAQRHFNI
310 320 330 340 350
NNLDNNWLKM HFWFYYATLL PGFQRTVGIA DSNYNWFYGP ESQLVFLDKF
360 370 380 390 400
ILKNGAGNWL AQQIRKHRPK DGPMVPSTAQ RWSTLHTEYI WYDPQLTPQP
410 420 430 440 450
PADYGTAKIH TFPNWGVVTY GAGLPNTQTN TFVSFKSGKL GGRAVYDIVH
460 470 480 490 500
FQPYSWIDGW RSFNPGHEHP DQNSFTFAPN GQVFVSEALY GPKLSHLNNV
510 520 530 540 550
LVFAPSPSSQ CNKPWEGQLG ECAQWLKWTG EEVGDAAGEI ITASQHGEMV
560 570 580 590 600
FVSGEAVSAY SSAMRLKSVY RALLLLNSQT LLVVDHIERQ EDSPINSVSA
610 620 630 640 650
FFHNLDIDFK YIPYKFMNRY NGAMMDVWDA HYKMFWFDHH GNSPMASIQE
660 670 680 690 700
AEQAAEFKKR WTQFVNVTFQ MEPTITRIAY VFYGPYINVS SCRFIDSSNP
710 720 730 740 750
GLQISLNVNN TEHVVSIVTD YHNLKTRFNY LGFGGFASVA DQGQITRFGL
760 770 780 790 800
GTQAIVKPVR HDRIIFPFGF KFNIAVGLIL CISLVILTFQ WRFYLSFRKL
810 820 830 840 850
MRWILILVIA LWFIELLDVW STCSQPICAK WTRTEAEGSK KSLSSEGHHM
860 870 880 890 900
DLPDVVITSL PGSGAEILKQ LFFNSSDFLY IRVPTAYIDI PETELEIDSF
910 920 930 940 950
VDACEWKVSD IRSGHFRLLR GWLQSLVQDT KLHLQNIHLH EPNRGKLAQY
960 970 980 990 1000
FAMNKDKKRK FKRRESLPEQ RSQMKGAFDR DAEYIRALRR HLVYYPSARP
1010 1020 1030 1040 1050
VLSLSSGSWT LKLHFFQEVL GASMRALYIV RDPRAWIYSM LYNSKPSLYS
1060 1070 1080 1090 1100
LKNVPEHLAK LFKIEGGKGK CNLNSGYAFE YEPLRKELSK SKSNAVSLLS
1110 1120 1130 1140 1150
HLWLANTAAA LRINTDLLPT SYQLVKFEDI VHFPQKTTER IFAFLGIPLS
1160 1170 1180 1190 1200
PASLNQILFA TSTNLFYLPY EGEISPTNTN VWKQNLPRDE IKLIENICWT
1210
LMDRLGYPKF MD
Length:1,212
Mass (Da):139,238
Last modified:February 20, 2007 - v2
Checksum:iB3C52221661234BD
GO

Sequence cautioni

The sequence AAI17326.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAN32895.1 differs from that shown. Reason: Erroneous initiation. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti188 – 1881Missing in AAI17326 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti673 – 6731P → S.
Corresponds to variant rs2279269 [ dbSNP | Ensembl ].
VAR_030833
Natural varianti730 – 7301Y → C.
Corresponds to variant rs12953840 [ dbSNP | Ensembl ].
VAR_030834
Natural varianti832 – 8321T → S.
Corresponds to variant rs35479856 [ dbSNP | Ensembl ].
VAR_057759
Natural varianti1090 – 10901K → E in a colorectal cancer sample; somatic mutation. 1 Publication
VAR_036528

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF480435 mRNA. Translation: AAN32895.1. Different initiation.
AC110597 Genomic DNA. No translation available.
BC062557 mRNA. Translation: AAH62557.1. Different termination.
BC117325 mRNA. Translation: AAI17326.1. Different initiation.
RefSeqiNP_115536.1. NM_032160.2.
UniGeneiHs.124673.

Genome annotation databases

EnsembliENST00000310045; ENSP00000310565; ENSG00000171451.
ENST00000572659; ENSP00000460321; ENSG00000262102.
GeneIDi92126.
KEGGihsa:92126.
UCSCiuc002lke.1. human.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF480435 mRNA. Translation: AAN32895.1. Different initiation.
AC110597 Genomic DNA. No translation available.
BC062557 mRNA. Translation: AAH62557.1. Different termination.
BC117325 mRNA. Translation: AAI17326.1. Different initiation.
RefSeqiNP_115536.1. NM_032160.2.
UniGeneiHs.124673.

3D structure databases

ProteinModelPortaliQ8IZU8.
SMRiQ8IZU8. Positions 1119-1210.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124911. 1 interaction.

PTM databases

PhosphoSiteiQ8IZU8.

Polymorphism and mutation databases

BioMutaiDSEL.
DMDMi126215700.

Proteomic databases

MaxQBiQ8IZU8.
PaxDbiQ8IZU8.
PRIDEiQ8IZU8.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000310045; ENSP00000310565; ENSG00000171451.
ENST00000572659; ENSP00000460321; ENSG00000262102.
GeneIDi92126.
KEGGihsa:92126.
UCSCiuc002lke.1. human.

Organism-specific databases

CTDi92126.
GeneCardsiGC18M065173.
HGNCiHGNC:18144. DSEL.
MIMi611125. gene.
neXtProtiNX_Q8IZU8.
PharmGKBiPA162384097.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG19607.
HOGENOMiHOG000060116.
HOVERGENiHBG081464.
InParanoidiQ8IZU8.
OrthoDBiEOG7RZ5P7.
PhylomeDBiQ8IZU8.
TreeFamiTF334118.

Enzyme and pathway databases

BRENDAi5.1.3.19. 2681.
ReactomeiREACT_120800. Dermatan sulfate biosynthesis.

Miscellaneous databases

GenomeRNAii92126.
NextBioi77597.
PROiQ8IZU8.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IZU8.
CleanExiHS_DSEL.
GenevisibleiQ8IZU8. HS.

Family and domain databases

Gene3Di3.40.50.300. 2 hits.
InterProiIPR027417. P-loop_NTPase.
IPR000863. Sulfotransferase_dom.
[Graphical view]
PfamiPF00685. Sulfotransfer_1. 1 hit.
[Graphical view]
SUPFAMiSSF52540. SSF52540. 3 hits.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "A novel CpG-associated brain-expressed candidate gene for chromosome 18q-linked bipolar disorder."
    Goossens D., Van Gestel S., Claes S., De Rijk P., Souery D., Massat I., Van den Bossche D., Backhovens H., Mendlewicz J., Van Broeckhoven C., Del-Favero J.
    Mol. Psychiatry 8:83-89(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain and Mammary gland.
  4. Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-1090.

Entry informationi

Entry nameiDSEL_HUMAN
AccessioniPrimary (citable) accession number: Q8IZU8
Secondary accession number(s): Q17RH1, Q6P5Z3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: June 24, 2015
This is version 86 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.