Guanine nucleotide exchange factor C9orf72 (C9orf72)

Homo sapiens — UniProt Q96LT7

Gene: C9orf72Homo sapiensSwissProt reviewed

About Guanine nucleotide exchange factor C9orf72

Guanine nucleotide exchange factor C9orf72 (C9orf72) is a protein from Homo sapiens identified by UniProt accession Q96LT7, 481 residues long. MolForge cross-references it against 0 known binders and 591 disease associations.

Target properties

Protein nameGuanine nucleotide exchange factor C9orf72
UniProt accessionQ96LT7
GeneC9orf72
OrganismHomo sapiens
Length481 residues
Molecular weight—
EC numbers—
Target classUNCLASSIFIED
Subcellular location—
Keywords—

Druggability

Target tractability assessment (Open Targets + pocket analysis). No approved drug

Druggability tierMEDIUM
Druggability score—
Pocket score—
Max clinical phase—

Disease associations (591)

Diseases linked to this target (Open Targets).

  • frontotemporal dementia and/or amyotrophic lateral sclerosis 1 · score 0.57
  • amyotrophic lateral sclerosis · score 0.56
  • Amyotrophic lateral sclerosis · score 0.39
  • frontotemporal dementia with motor neuron disease · score 0.37
  • Huntington disease-like syndrome due to C9ORF72 expansions · score 0.37
  • sporadic amyotrophic lateral sclerosis · score 0.32
  • mean platelet volume · score 0.28
  • blood protein measurement · score 0.27
  • cathepsin L1 measurement · score 0.25
  • body mass index · score 0.23

3D Structure (1)

Experimental (PDB) and predicted (AlphaFold) structures for this protein.

StructureSourceMethodMean pLDDTResolution (Å)
AF-Q96LT7-F1alphafoldPREDICTED83.41—

Amino-acid sequence (481 residues)

MSTLCPPPSP AVAKTEIALS GKSPLLAATF AYWDNILGPR VRHIWAPKTE QVLLSDGEIT FLANHTLNGE ILRNAESGAI DVKFFVLSEK GVIIVSLIFD GNWNGDRSTY GLSIILPQTE LSFYLPLHRV CVDRLTHIIR KGRIWMHKER QENVQKIILE GTERMEDQGQ SIIPMLTGEV IPVMELLSSM KSHSVPEEID IADTVLNDDD IGDSCHEGFL LNAISSHLQT CGCSVVVGSS AEKVNKIVRT LCLFLTPAER KCSRLCEAES SFKYESGLFV QGLLKDSTGS FVLPFRQVMY APYPTTHIDV DVNTVKQMPP CHEHIYNQRR YMRSELTAFW RATSEEDMAQ DTIIYTDESF TPDLNIFQDV LHRDTLVKAF LDQVFQLKPG LSLRSTFLAQ FLLVLHRKAL TLIKYIEDDT QKGKKPFKSL RNLKIDLDLT AEGDLNIIMA LAEKIKPGLH SFIFGRPFYT SVQERDVLMT F

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Quick facts

UniProtQ96LT7
GeneC9orf72
OrganismHomo sapiens
Length481
Binders0
Diseases591
View on UniProt