Homo sapiens Gene: DHH
Summary
InnateDB Gene IDBG-31007.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DHH
Gene Name desert hedgehog
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000139549
Encoded Proteins
desert hedgehog
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the hedgehog family. The hedgehog gene family encodes signaling molecules that play an important role in regulating morphogenesis. This protein is predicted to be made as a precursor that is autocatalytically cleaved; the N-terminal portion is soluble and contains the signalling activity while the C-terminal portion is involved in precursor processing. More importantly, the C-terminal product covalently attaches a cholesterol moiety to the N-terminal product, restricting the N-terminal product to the cell surface and preventing it from freely diffusing throughout the organism. Defects in this protein have been associated with partial gonadal dysgenesis (PGD) accompanied by minifascicular polyneuropathy. This protein may be involved in both male gonadal differentiation and perineurial development. [provided by RefSeq, May 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:49089421-49094819
Strand Reverse strand
Band q13.12
Transcripts
ENST00000266991 ENSP00000266991
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005113 patched binding
GO:0005509 calcium ion binding
GO:0005515 protein binding
GO:0008233 peptidase activity
GO:0008270 zinc ion binding
Biological Process
GO:0006508 proteolysis
GO:0007154 cell communication
GO:0007267 cell-cell signaling
GO:0007275 multicellular organismal development
GO:0007286 spermatid development
GO:0030238 male sex determination
GO:0032355 response to estradiol
GO:0033327 Leydig cell differentiation
GO:0042552 myelination
GO:0043627 response to estrogen
GO:0050810 regulation of steroid biosynthetic process
Cellular Component
GO:0005615 extracellular space
GO:0005886 plasma membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
Hedgehog pathway
REACTOME
Processing-defective Hh variants abrogate ligand secretion pathway
Signaling by Hedgehog pathway
Release of Hh-Np from the secreting cell pathway
Signaling by GPCR pathway
Signal Transduction pathway
Hh ligand biogenesis disease pathway
Hedgehog ligand biogenesis pathway
GPCR ligand binding pathway
Class B/2 (Secretin family receptors) pathway
Disease pathway
KEGG
Hedgehog signaling pathway pathway
INOH
GPCR signaling pathway
Hedgehog signaling pathway pathway
PID BIOCARTA
PID NCI
Signaling events mediated by the Hedgehog family
Cross-References
SwissProt O43323
TrEMBL F6KSZ4
UniProt Splice Variant
Entrez Gene 50846
UniGene Hs.524382
RefSeq NM_021044
HUGO HGNC:2865
OMIM 605423
CCDS CCDS8779
HPRD 05664
IMGT
EMBL AB010994 BC033507 HQ607677 U59748
GenPept AAB03398 AAH33507 AEF38366 BAA24866
RNA Seq Atlas 50846