• Gene id: 92126

Gene Summary

• Gene Symbol: DSEL   Gene   UCSC   Ensembl
• Aliases: C18orf4, DE-epi2
• Gene name: dermatan sulfate epimerase like
• Alternate names: dermatan-sulfate epimerase-like protein, NCAG1,
• Gene location: 18q22.1 (67516719: 67506586)     Exons: 2     NC_000018.10
• OMIM: 611125

Protein Summary

• Protein general information: Q8IZU8  
  • Name: Dermatan sulfate epimerase like protein (EC 5.1. . )
  • Length: 1212  
  • Mass: 139238
  • Tissue specificity: Expressed in different brain areas as well as in multiple other peripheral tissues. {ECO
• Sequence:

  MALMFTGHLLFLALLMFAFSTFEESVSNYSEWAVFTDDIDQFKTQKVQDFRPNQKLKKSMLHPSLYFDAGEIQAM
  RQKSRASHLHLFRAIRSAVTVMLSNPTYYLPPPKHADFAAKWNEIYGNNLPPLALYCLLCPEDKVAFEFVLEYMD
  RMVGYKDWLVENAPGDEVPIGHSLTGFATAFDFLYNLLDNHRRQKYLEKIWVITEEMYEYSKVRSWGKQLLHNHQ
  ATNMIALLTGALVTGVDKGSKANIWKQAVVDVMEKTMFLLNHIVDGSLDEGVAYGSYTAKSVTQYVFLAQRHFNI
  NNLDNNWLKMHFWFYYATLLPGFQRTVGIADSNYNWFYGPESQLVFLDKFILKNGAGNWLAQQIRKHRPKDGPMV
  PSTAQRWSTLHTEYIWYDPQLTPQPPADYGTAKIHTFPNWGVVTYGAGLPNTQTNTFVSFKSGKLGGRAVYDIVH
  FQPYSWIDGWRSFNPGHEHPDQNSFTFAPNGQVFVSEALYGPKLSHLNNVLVFAPSPSSQCNKPWEGQLGECAQW
  LKWTGEEVGDAAGEIITASQHGEMVFVSGEAVSAYSSAMRLKSVYRALLLLNSQTLLVVDHIERQEDSPINSVSA
  FFHNLDIDFKYIPYKFMNRYNGAMMDVWDAHYKMFWFDHHGNSPMASIQEAEQAAEFKKRWTQFVNVTFQMEPTI
  TRIAYVFYGPYINVSSCRFIDSSNPGLQISLNVNNTEHVVSIVTDYHNLKTRFNYLGFGGFASVADQGQITRFGL
  GTQAIVKPVRHDRIIFPFGFKFNIAVGLILCISLVILTFQWRFYLSFRKLMRWILILVIALWFIELLDVWSTCSQ
  PICAKWTRTEAEGSKKSLSSEGHHMDLPDVVITSLPGSGAEILKQLFFNSSDFLYIRVPTAYIDIPETELEIDSF
  VDACEWKVSDIRSGHFRLLRGWLQSLVQDTKLHLQNIHLHEPNRGKLAQYFAMNKDKKRKFKRRESLPEQRSQMK
  GAFDRDAEYIRALRRHLVYYPSARPVLSLSSGSWTLKLHFFQEVLGASMRALYIVRDPRAWIYSMLYNSKPSLYS
  LKNVPEHLAKLFKIEGGKGKCNLNSGYAFEYEPLRKELSKSKSNAVSLLSHLWLANTAAALRINTDLLPTSYQLV
  KFEDIVHFPQKTTERIFAFLGIPLSPASLNQILFATSTNLFYLPYEGEISPTNTNVWKQNLPRDEIKLIENICWT
  LMDRLGYPKFMD

• Structural information:
  • Interpro: IPR008929  IPR027417  IPR000863  
  • STRING: ENSP00000310565
• Other Databases: GeneCards:  DSEL  Malacards:  DSEL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0047757	chondroitin-glucuronate 5-epimerase activity	IBA	molecular function
GO:0030204	chondroitin sulfate metabolic process	IBA	biological process
GO:0030205	dermatan sulfate metabolic process	IBA	biological process
GO:0008146	sulfotransferase activity	IEA	molecular function
GO:0016853	isomerase activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0030208	dermatan sulfate biosynthetic process	TAS	biological process
GO:0030204	chondroitin sulfate metabolic process	IEA	biological process
GO:0047757	chondroitin-glucuronate 5-epimerase activity	IEA	molecular function
GO:0030205	dermatan sulfate metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)