DHH Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
DHH
Official Name
desert hedgehog signaling molecule [Source:HGNC Symbol;Acc:HGNC:2865]
Ensembl ID
ENSG00000139549
Bio databases IDs NCBI: 50846 Ensembl: ENSG00000139549
Aliases desert hedgehog signaling molecule
Synonyms desert hedgehog, desert hedgehog signaling molecule, GDMN, GDXYM, HHG-3, SRXY7
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human DHH often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Hint (Hedgehog/Intein) domain C-terminal region
  • intein N-terminal splicing region
  • Hint module
  • peptidase
  • calcium ion binding
  • enzyme
  • protein binding
  • Hedgehog amino-terminal signalling domain
  • Hint (Hedgehog/Intein) domain N-terminal region
  • transferase
  • zinc ion binding
  • Hint
  • patched binding

Pathways

Biological processes and signaling networks where the DHH gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • cancer
  • myelin oligodendrocyte glycoprotein induced experimental autoimmune encephalomyelitis
  • azoospermia
  • partial 46,XY gonadal dysgenesis with minifascicular neuropathy
  • hyperplasia
  • sex reversal
  • 46,XY sex reversal type 7
  • hypoplasia
  • pseudohermaphroditism
  • cryptorchidism
regulates
role in cell
  • expression in
  • differentiation
  • number
  • proliferation
  • phosphorylation in
  • specification
  • survival
  • quantity
  • abnormal morphology
  • stimulation

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • Plasma Membrane
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human DHH gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • response to estrogen stimulus
  • spermatid development
  • cell-cell signaling
  • smoothened signaling pathway
  • myelination
  • male sex determination
  • self proteolysis
  • positive regulation of smoothened signaling pathway
  • response to estradiol stimulus
  • regulation of gene expression
  • osteoblast differentiation
  • protein autoprocessing
  • cell fate specification
  • regulation of steroid biosynthetic process
  • Leydig cell differentiation

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • extracellular space
  • Golgi membrane
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • zinc ion binding
  • protein binding
  • calcium ion binding
  • peptidase activity
  • patched binding

Gene-Specific Assays for Results You Can Trust

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