GFUS

Protein identityUniProt · HPA

UniProt accession

Q13630

Gene

GFUS

Ensembl

ENSG00000104522

Chromosome

8

Canonical length

321 aa

Protein class

Enzymes, Metabolic proteins, Predicted intracellular proteins

Subcellular location

Nucleoplasm,Cytosol

Quaternary structure

Homodimer

OverviewNCBI Gene

Tissue specific transplantation antigen P35B is a NADP(H)-binding protein. It catalyze the two-step epimerase and the reductase reactions in GDP-D-mannose metabolism, converting GDP-4-keto-6-D-deoxymannose to GDP-L-fucose. GDP-L-fucose is the substrate of several fucosyltransferases involved in the expression of many glycoconjugates, including blood group ABH antigens and developmental adhesion antigens. Mutations in this gene may cause leukocyte adhesion deficiency, type II. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

321 residues, UniProt reviewed canonical sequence.

>Q13630|GFUS
     1  MGEPQGSMRI LVTGGSGLVG KAIQKVVADG AGLPGEDWVF VSSKDADLTD TAQTRALFEK
    61  VQPTHVIHLA AMVGGLFRNI KYNLDFWRKN VHMNDNVLHS AFEVGARKVV SCLSTCIFPD
   121  KTTYPIDETM IHNGPPHNSN FGYSYAKRMI DVQNRAYFQQ YGCTFTAVIP TNVFGPHDNF
   181  NIEDGHVLPG LIHKVHLAKS SGSALTVWGT GNPRRQFIYS LDLAQLFIWV LREYNEVEPI
   241  ILSVGEEDEV SIKEAAEAVV EAMDFHGEVT FDTTKSDGQF KKTASNSKLR TYLPDFRFTP
   301  FKQAVKETCA WFTDNYEQAR K

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GFUS 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

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.24

Highest tissue expression

109 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GFUS.

Disease | ImmuneIEDB

Conditions an epitope on GFUS was assayed in.

• multiple sclerosis T 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)

1.13

gnomAD pLI

0

DepMap mean gene effect

-0.12

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• 'de novo' GDP-L-fucose biosynthetic process
• GDP-mannose metabolic process
• leukocyte cell-cell adhesion
• positive regulation of endothelial cell migration
• positive regulation of endothelial cell-matrix adhesion via fibronectin
• T cell mediated cytotoxicity

Molecular functions

• electron transfer activity
• identical protein binding
• GDP-4-dehydro-D-rhamnose reductase activity
• GDP-L-fucose synthase activity
• GDP-mannose 3,5-epimerase activity

Cellular components

• cytosol
• extracellular exosome

Protein domainsUniProt · Pfam · InterPro

• NAD-dependent epimerase/dehydratase
• NAD(P)-binding domain superfamily
• NAD dependent epimerase/dehydratase family
• GDP-L-fucose synthase/GDP-L-colitose synthase

KeywordsUniProt

• Isomerase
• Multifunctional enzyme
• NADP
• Oxidoreductase