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Q8IZU8

- DSEL_HUMAN

UniProt

Q8IZU8 - DSEL_HUMAN

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Protein

Dermatan-sulfate epimerase-like protein

Gene

DSEL

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

Functioni

GO - Molecular functioni

  1. isomerase activity Source: UniProtKB-KW
  2. sulfotransferase activity Source: InterPro

GO - Biological processi

  1. carbohydrate metabolic process Source: Reactome
  2. chondroitin sulfate metabolic process Source: Reactome
  3. dermatan sulfate biosynthetic process Source: Reactome
  4. glycosaminoglycan metabolic process Source: Reactome
  5. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Isomerase

Enzyme and pathway databases

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: Chromosome 18

Organism-specific databases

HGNCiHGNC:18144. DSEL.

Subcellular locationi

GO - Cellular componenti

  1. Golgi membrane Source: Reactome
  2. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA162384097.

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.
GenevestigatoriQ8IZU8.

Interactioni

Protein-protein interaction databases

BioGridi124911. 1 interaction.
STRINGi9606.ENSP00000310565.

Structurei

3D structure databases

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

Transmembrane

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

Family & Domainsi

Sequence similaritiesi

Belongs to the dermatan-sulfate isomerase family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG19607.
GeneTreeiENSGT00390000006522.
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.
The sequence AAN32895.1 differs from that shown. Reason: Erroneous initiation.

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:
EMBL
GenBank
DDBJ
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.

Polymorphism databases

DMDMi126215700.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
RefSeqi NP_115536.1. NM_032160.2.
UniGenei Hs.124673.

3D structure databases

ProteinModelPortali Q8IZU8.
SMRi Q8IZU8. Positions 1119-1210.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 124911. 1 interaction.
STRINGi 9606.ENSP00000310565.

PTM databases

PhosphoSitei Q8IZU8.

Polymorphism databases

DMDMi 126215700.

Proteomic databases

MaxQBi Q8IZU8.
PaxDbi Q8IZU8.
PRIDEi Q8IZU8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000310045 ; ENSP00000310565 ; ENSG00000171451 .
ENST00000572659 ; ENSP00000460321 ; ENSG00000262102 .
GeneIDi 92126.
KEGGi hsa:92126.
UCSCi uc002lke.1. human.

Organism-specific databases

CTDi 92126.
GeneCardsi GC18M065173.
HGNCi HGNC:18144. DSEL.
MIMi 611125. gene.
neXtProti NX_Q8IZU8.
PharmGKBi PA162384097.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG19607.
GeneTreei ENSGT00390000006522.
HOGENOMi HOG000060116.
HOVERGENi HBG081464.
InParanoidi Q8IZU8.
OrthoDBi EOG7RZ5P7.
PhylomeDBi Q8IZU8.
TreeFami TF334118.

Enzyme and pathway databases

Reactomei REACT_120800. Dermatan sulfate biosynthesis.

Miscellaneous databases

GenomeRNAii 92126.
NextBioi 77597.
PROi Q8IZU8.
SOURCEi Search...

Gene expression databases

Bgeei Q8IZU8.
CleanExi HS_DSEL.
Genevestigatori Q8IZU8.

Family and domain databases

Gene3Di 3.40.50.300. 2 hits.
InterProi IPR027417. P-loop_NTPase.
IPR000863. Sulfotransferase_dom.
[Graphical view ]
Pfami PF00685. Sulfotransfer_1. 1 hit.
[Graphical view ]
SUPFAMi SSF52540. SSF52540. 3 hits.
ProtoNeti Search...

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: October 29, 2014
This is version 80 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