DSE

Protein identityUniProt · HPA

UniProt accession

Q9UL01

Gene

DSE

Ensembl

ENSG00000111817

Chromosome

6

Canonical length

958 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins

Secretome location

Intracellular and membrane

OverviewNCBI Gene

The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]

Canonical amino-acid sequenceUniProt

958 residues, UniProt reviewed canonical sequence.

>Q9UL01|DSE
     1  MRTHTRGAPS VFFIYLLCFV SAYITDENPE VMIPFTNANY DSHPMLYFSR AEVAELQLRA
    61  ASSHEHIAAR LTEAVHTMLS SPLEYLPPWD PKDYSARWNE IFGNNLGALA MFCVLYPENI
   121  EARDMAKDYM ERMAAQPSWL VKDAPWDEVP LAHSLVGFAT AYDFLYNYLS KTQQEKFLEV
   181  IANASGYMYE TSYRRGWGFQ YLHNHQPTNC MALLTGSLVL MNQGYLQEAY LWTKQVLTIM
   241  EKSLVLLREV TDGSLYEGVA YGSYTTRSLF QYMFLVQRHF NINHFGHPWL KQHFAFMYRT
   301  ILPGFQRTVA IADSNYNWFY GPESQLVFLD KFVMRNGSGN WLADQIRRNR VVEGPGTPSK
   361  GQRWCTLHTE FLWYDGSLKS VPPPDFGTPT LHYFEDWGVV TYGSALPAEI NRSFLSFKSG
   421  KLGGRAIYDI VHRNKYKDWI KGWRNFNAGH EHPDQNSFTF APNGVPFITE ALYGPKYTFF
   481  NNVLMFSPAV SKSCFSPWVG QVTEDCSSKW SKYKHDLAAS CQGRVVAAEE KNGVVFIRGE
   541  GVGAYNPQLN LKNVQRNLIL LHPQLLLLVD QIHLGEESPL ETAASFFHNV DVPFEETVVD
   601  GVHGAFIRQR DGLYKMYWMD DTGYSEKATF ASVTYPRGYP YNGTNYVNVT MHLRSPITRA
   661  AYLFIGPSID VQSFTVHGDS QQLDVFIATS KHAYATYLWT GEATGQSAFA QVIADRHKIL
   721  FDRNSAIKSS IVPEVKDYAA IVEQNLQHFK PVFQLLEKQI LSRVRNTASF RKTAERLLRF
   781  SDKRQTEEAI DRIFAISQQQ QQQSKSKKNR RAGKRYKFVD AVPDIFAQIE VNEKKIRQKA
   841  QILAQKELPI DEDEEMKDLL DFADVTYEKH KNGGLIKGRF GQARMVTTTH SRAPSLSASY
   901  TRLFLILNIA IFFVMLAMQL TYFQRAQSLH GQRCLYAVLL IDSCILLWLY SSCSQSQC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DSE can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Other membrane

Secreted

No

Transmembrane segments

2

Mean surface accessibility (rSASA)

0.25

Highest tissue expression

25 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DSE.

Disease | AllUniProt

Conditions DSE is implicated in, by any mechanism.

• Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2) MIM:615539

Disease | GeneticClinVar

15 pathogenic / likely-pathogenic of 495 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ehlers-Danlos syndrome, musculocontractural type 2
• Inborn genetic diseases
• See cases
• Fetal anomalies with a likely genetic cause

Disease | ImmuneIEDB

Conditions an epitope on DSE was assayed in.

• prostate cancer B and T cell
• castration-resistant prostate carcinoma B and T cell
• prostate adenocarcinoma B and T cell
• triple-receptor negative breast cancer B and T cell
• Her2-receptor negative breast cancer B and T cell
• Her2-receptor positive breast cancer B and T cell
• colorectal cancer B and T cell
• synovial sarcoma B and T cell
• lung cancer B and T cell
• liposarcoma B and T cell
• gastric adenocarcinoma B and T cell
• prostatic urethral cancer B and T cell
• cancer B cell
• pancreatic carcinoma B cell
• biliary tract cancer B and T cell
• lung small cell carcinoma B cell
• adult hepatocellular carcinoma B cell
• esophageal cancer B and T cell
• carcinoma B and T cell
• hematologic cancer B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.38

gnomAD pLI

0.63

gnomAD missense Z

2.03

DepMap mean gene effect

0.15

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• chondroitin sulfate proteoglycan metabolic process
• dermatan sulfate proteoglycan biosynthetic process
• dermatan sulfate proteoglycan metabolic process
• heparan sulfate proteoglycan biosynthetic process

Molecular functions

• chondroitin-glucuronate 5-epimerase activity
• metal ion binding

Cellular components

• cytoplasmic vesicle membrane
• endoplasmic reticulum
• endoplasmic reticulum membrane
• Golgi apparatus
• Golgi membrane

Protein domainsUniProt · Pfam · InterPro

• Chondroitin AC/alginate lyase
• Dermatan-Sulfate Isomerase

KeywordsUniProt

• Cytoplasmic vesicle
• Ehlers-Danlos syndrome
• Endoplasmic reticulum
• Glycoprotein
• Golgi apparatus
• Isomerase
• Manganese
• Membrane
• Metal-binding
• Microsome
• Signal
• Transmembrane
• Transmembrane helix