SHH

GPTKB entity

Statements (54)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alias gptkb:HHG-1
gptkb:Sonic_hedgehog_homolog
HPE3
gptkbp:coReceptor gptkb:Smoothened_(SMO)
gptkbp:discoveredBy gptkb:Andrew_P._McMahon
gptkb:Clifford_Tabin
gptkb:Philip_Ingham
gptkbp:discoveredIn 1993
gptkbp:encodes gptkb:Sonic_Hedgehog_protein
gptkbp:Entrez_Gene_ID 6469
ENSG00000164690
gptkbp:expressedIn notochord
developing brain
developing limbs
floor plate
gptkbp:fullName gptkb:Sonic_Hedgehog
gptkbp:function signaling molecule in embryonic development
gptkbp:geneType protein-coding
gptkbp:HGNC_ID 10848
https://www.w3.org/2000/01/rdf-schema#label SHH
gptkbp:involvedIn cell growth
limb development
cell specialization
patterning of the neural tube
gptkbp:length 462 amino acids
gptkbp:locatedOnChromosome 7q36
gptkbp:molecularWeight 49 kDa
gptkbp:mutationAssociatedWith gptkb:Gorlin_syndrome
gptkb:holoprosencephaly
basal cell carcinoma
gptkbp:OMIM 600725
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologIn gptkb:Mus_musculus
Drosophila melanogaster (as hedgehog)
gptkbp:pathway gptkb:Hedgehog_signaling_pathway
gptkbp:postTranslationalModification palmitoylation
autoproteolytic cleavage
cholesterol modification
gptkbp:proteinFamily gptkb:hedgehog_signaling_proteins
gptkbp:recipient gptkb:PTCH1
gptkb:PTCH2
gptkbp:regulates gptkb:GLI_transcription_factors
cell fate determination
gptkbp:relatedTo gptkb:cancer
developmental disorders
gptkbp:species gptkb:human
gptkbp:symbol gptkb:SHH
gptkbp:UniProtID gptkb:Q15465
gptkbp:bfsParent gptkb:Shanghai_Railway_Station
gptkb:Shanghai_South_Railway_Station
gptkb:medulloblastoma
gptkb:Shanghai_West_Railway_Station
gptkbp:bfsLayer 6