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Q8IZU8 (DSEL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 76. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Dermatan-sulfate epimerase-like protein

EC=5.1.-.-
Gene names
Name:DSEL
Synonyms:C18orf4, NCAG1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1212 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Subcellular location

Membrane; Multi-pass membrane protein Potential.

Tissue specificity

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

Sequence similarities

Belongs to the dermatan-sulfate isomerase family.

Sequence caution

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

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Signal peptide1 – 2020 Potential
Chain21 – 12121192Dermatan-sulfate epimerase-like protein
PRO_0000278288

Regions

Transmembrane764 – 78421Helical; Potential
Transmembrane803 – 82321Helical; Potential

Amino acid modifications

Glycosylation281N-linked (GlcNAc...) Potential
Glycosylation6661N-linked (GlcNAc...) Potential
Glycosylation6881N-linked (GlcNAc...) Potential
Glycosylation7091N-linked (GlcNAc...) Potential
Glycosylation8741N-linked (GlcNAc...) Potential

Natural variations

Natural variant6731P → S.
Corresponds to variant rs2279269 [ dbSNP | Ensembl ].
VAR_030833
Natural variant7301Y → C.
Corresponds to variant rs12953840 [ dbSNP | Ensembl ].
VAR_030834
Natural variant8321T → S.
Corresponds to variant rs35479856 [ dbSNP | Ensembl ].
VAR_057759
Natural variant10901K → E in a colorectal cancer sample; somatic mutation. Ref.4
VAR_036528

Experimental info

Sequence conflict1881Missing in AAI17326. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Q8IZU8 [UniParc].

Last modified February 20, 2007. Version 2.
Checksum: B3C52221661234BD

FASTA1,212139,238
        10         20         30         40         50         60 
MALMFTGHLL FLALLMFAFS TFEESVSNYS EWAVFTDDID QFKTQKVQDF RPNQKLKKSM 

        70         80         90        100        110        120 
LHPSLYFDAG EIQAMRQKSR ASHLHLFRAI RSAVTVMLSN PTYYLPPPKH ADFAAKWNEI 

       130        140        150        160        170        180 
YGNNLPPLAL YCLLCPEDKV AFEFVLEYMD RMVGYKDWLV ENAPGDEVPI GHSLTGFATA 

       190        200        210        220        230        240 
FDFLYNLLDN HRRQKYLEKI WVITEEMYEY SKVRSWGKQL LHNHQATNMI ALLTGALVTG 

       250        260        270        280        290        300 
VDKGSKANIW KQAVVDVMEK TMFLLNHIVD GSLDEGVAYG SYTAKSVTQY VFLAQRHFNI 

       310        320        330        340        350        360 
NNLDNNWLKM HFWFYYATLL PGFQRTVGIA DSNYNWFYGP ESQLVFLDKF ILKNGAGNWL 

       370        380        390        400        410        420 
AQQIRKHRPK DGPMVPSTAQ RWSTLHTEYI WYDPQLTPQP PADYGTAKIH TFPNWGVVTY 

       430        440        450        460        470        480 
GAGLPNTQTN TFVSFKSGKL GGRAVYDIVH FQPYSWIDGW RSFNPGHEHP DQNSFTFAPN 

       490        500        510        520        530        540 
GQVFVSEALY GPKLSHLNNV LVFAPSPSSQ CNKPWEGQLG ECAQWLKWTG EEVGDAAGEI 

       550        560        570        580        590        600 
ITASQHGEMV FVSGEAVSAY SSAMRLKSVY RALLLLNSQT LLVVDHIERQ EDSPINSVSA 

       610        620        630        640        650        660 
FFHNLDIDFK YIPYKFMNRY NGAMMDVWDA HYKMFWFDHH GNSPMASIQE AEQAAEFKKR 

       670        680        690        700        710        720 
WTQFVNVTFQ MEPTITRIAY VFYGPYINVS SCRFIDSSNP GLQISLNVNN TEHVVSIVTD 

       730        740        750        760        770        780 
YHNLKTRFNY LGFGGFASVA DQGQITRFGL GTQAIVKPVR HDRIIFPFGF KFNIAVGLIL 

       790        800        810        820        830        840 
CISLVILTFQ WRFYLSFRKL MRWILILVIA LWFIELLDVW STCSQPICAK WTRTEAEGSK 

       850        860        870        880        890        900 
KSLSSEGHHM DLPDVVITSL PGSGAEILKQ LFFNSSDFLY IRVPTAYIDI PETELEIDSF 

       910        920        930        940        950        960 
VDACEWKVSD IRSGHFRLLR GWLQSLVQDT KLHLQNIHLH EPNRGKLAQY FAMNKDKKRK 

       970        980        990       1000       1010       1020 
FKRRESLPEQ RSQMKGAFDR DAEYIRALRR HLVYYPSARP VLSLSSGSWT LKLHFFQEVL 

      1030       1040       1050       1060       1070       1080 
GASMRALYIV RDPRAWIYSM LYNSKPSLYS LKNVPEHLAK LFKIEGGKGK CNLNSGYAFE 

      1090       1100       1110       1120       1130       1140 
YEPLRKELSK SKSNAVSLLS HLWLANTAAA LRINTDLLPT SYQLVKFEDI VHFPQKTTER 

      1150       1160       1170       1180       1190       1200 
IFAFLGIPLS PASLNQILFA TSTNLFYLPY EGEISPTNTN VWKQNLPRDE IKLIENICWT 

      1210 
LMDRLGYPKF MD 

« Hide

References

« Hide 'large scale' references
[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]"DNA sequence and analysis of human chromosome 18."
Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. expand/collapse author list , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S.
Nature 437:551-555(2005) [PubMed] [Europe PMC] [Abstract]
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]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLU-1090.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_115536.1. NM_032160.2.
UniGeneHs.124673.

3D structure databases

ProteinModelPortalQ8IZU8.
SMRQ8IZU8. Positions 1119-1210.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124911. 1 interaction.
STRING9606.ENSP00000310565.

PTM databases

PhosphoSiteQ8IZU8.

Polymorphism databases

DMDM126215700.

Proteomic databases

PaxDbQ8IZU8.
PRIDEQ8IZU8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000310045; ENSP00000310565; ENSG00000171451.
ENST00000572659; ENSP00000460321; ENSG00000262102.
GeneID92126.
KEGGhsa:92126.
UCSCuc002lke.1. human.

Organism-specific databases

CTD92126.
GeneCardsGC18M065173.
HGNCHGNC:18144. DSEL.
MIM611125. gene.
neXtProtNX_Q8IZU8.
PharmGKBPA162384097.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG19607.
HOGENOMHOG000060116.
HOVERGENHBG081464.
InParanoidQ8IZU8.
OrthoDBEOG7RZ5P7.
PhylomeDBQ8IZU8.
TreeFamTF334118.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.

Gene expression databases

BgeeQ8IZU8.
CleanExHS_DSEL.
GenevestigatorQ8IZU8.

Family and domain databases

Gene3D3.40.50.300. 2 hits.
InterProIPR027417. P-loop_NTPase.
IPR000863. Sulfotransferase_dom.
[Graphical view]
PfamPF00685. Sulfotransfer_1. 1 hit.
[Graphical view]
SUPFAMSSF52540. SSF52540. 3 hits.
ProtoNetSearch...

Other

GenomeRNAi92126.
NextBio77597.
PROQ8IZU8.
SOURCESearch...

Entry information

Entry nameDSEL_HUMAN
AccessionPrimary (citable) accession number: Q8IZU8
Secondary accession number(s): Q17RH1, Q6P5Z3
Entry history
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: April 16, 2014
This is version 76 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM