Q8IZU8 (DSEL_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Dermatan-sulfate epimerase-like protein
EC=5.1.-.-

Gene names

Name:	DSEL
Synonyms:	C18orf4, NCAG1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	1212 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Polymorphism
Domain	Signal Transmembrane Transmembrane helix
Molecular function	Isomerase
PTM	Glycoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Molecular_function	isomerase activity Inferred from electronic annotation. Source: UniProtKB-KW sulfotransferase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Signal peptide	1 – 20	20	Potential
	Chain	21 – 1212	1192	Dermatan-sulfate epimerase-like protein		PRO_0000278288
Regions
	Transmembrane	764 – 784	21	Helical; Potential
	Transmembrane	803 – 823	21	Helical; Potential
Amino acid modifications
	Glycosylation	28	1	N-linked (GlcNAc...) Potential
	Glycosylation	666	1	N-linked (GlcNAc...) Potential
	Glycosylation	688	1	N-linked (GlcNAc...) Potential
	Glycosylation	709	1	N-linked (GlcNAc...) Potential
	Glycosylation	874	1	N-linked (GlcNAc...) Potential
Natural variations
	Natural variant	673	1	P → S. Corresponds to variant rs2279269 [ dbSNP | Ensembl ].		VAR_030833
	Natural variant	730	1	Y → C. Corresponds to variant rs12953840 [ dbSNP | Ensembl ].		VAR_030834
	Natural variant	832	1	T → S. Corresponds to variant rs35479856 [ dbSNP | Ensembl ].		VAR_057759
	Natural variant	1090	1	K → E in a colorectal cancer sample; somatic mutation. Ref.4		VAR_036528
Experimental info
	Sequence conflict	188	1	Missing in AAI17326. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Q8IZU8 [UniParc]. Last modified February 20, 2007. Version 2. Checksum: B3C52221661234BD	FASTA	1,212	139,238
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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.
IPI	IPI01014267.
RefSeq	NP_115536.1. NM_032160.2.
UniGene	Hs.124673.
3D structure databases
ProteinModelPortal	Q8IZU8.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000310565.
PTM databases
PhosphoSite	Q8IZU8.
Polymorphism databases
DMDM	126215700.
Proteomic databases
PaxDb	Q8IZU8.
PRIDE	Q8IZU8.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000310045; ENSP00000310565; ENSG00000171451. ENST00000572659; ENSP00000460321; ENSG00000262102.
GeneID	92126.
KEGG	hsa:92126.
UCSC	uc002lke.1. human.
Organism-specific databases
CTD	92126.
GeneCards	GC18M065173.
HGNC	HGNC:18144. DSEL.
MIM	611125. gene.
neXtProt	NX_Q8IZU8.
PharmGKB	PA162384097.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG19607.
HOGENOM	HOG000060116.
HOVERGEN	HBG081464.
InParanoid	Q8IZU8.
OrthoDB	EOG4M0F26.
Gene expression databases
Bgee	Q8IZU8.
CleanEx	HS_DSEL.
Genevestigator	Q8IZU8.
Family and domain databases
InterPro	IPR000863. Sulfotransferase_dom. [Graphical view]
Pfam	PF00685. Sulfotransfer_1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	92126.
NextBio	77597.
SOURCE	Search...

Entry information

Entry name

DSEL_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 67 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.