Desert hedgehog (protein)

DHH
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2WFQ, 2WFR, 2WG3, 3N1G, 3N1Q
Identifiers
Aliases	DHH , GDXYM, HHG-3, SRXY7, C78960, desert hedgehog, desert hedgehog signaling molecule, GDMN
External IDs	OMIM: 605423 MGI: 94891 HomoloGene: 22431 GeneCards: DHH
Gene location (Human) Chr. Chromosome 12 (human) [1] Band 12q13.12 Start 49,086,656 bp [1] End 49,094,801 bp [1]
Gene location (Mouse) Chr. Chromosome 15 (mouse) [2] Band 15 F1|15 55.05 cM Start 98,789,033 bp [2] End 98,796,421 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibial nerve sural nerve smooth muscle tissue spinal ganglia left coronary artery appendix right coronary artery gallbladder right lung ventricle Top expressed in sciatic nerve Sertoli cell external carotid artery internal carotid artery utricle pulmonary artery cumulus cell entorhinal cortex semi-lunar valve ascending aorta More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding zinc ion binding metal ion binding patched binding peptidase activity protein binding hydrolase activity Cellular component membrane plasma membrane extracellular region extracellular space Biological process response to estradiol Leydig cell differentiation cell-cell signaling regulation of steroid biosynthetic process male sex determination proteolysis response to estrogen multicellular organism development spermatid development myelination osteoblast differentiation smoothened signaling pathway cell fate specification regulation of gene expression Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 50846 13363 Ensembl ENSG00000139549 ENSMUSG00000023000 UniProt O43323 Q61488 RefSeq (mRNA) NM_021044 NM_007857 RefSeq (protein) NP_066382 NP_031883 Location (UCSC) Chr 12: 49.09 – 49.09 Mb Chr 15: 98.79 – 98.8 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

desert hedgehog
Identifiers
Symbol	DHH
Alt. symbols	HHG-3, MGC35145
NCBI gene	50846
HGNC	2865
OMIM	605423
RefSeq	NM_021044
UniProt	O43323
Other data
Locus	Chr. 12 q13.1
Search for Structures Swiss-model Domains InterPro

Desert hedgehog, also Desert hedgehog homolog or Dhh, is a protein encoded by the DHH gene, and is a member of the hedgehog signaling pathway. The human homolog (DHH) is on chromosome band 12q13.1. ^{[5] [6]} The protein encoded by this gene is involved in cell signaling. The several mammalian variants of the Drosophila hedgehog gene (which was the first named) have been named after the various species of hedgehog; the desert hedgehog is honored by this one. The gene is not specific to desert hedgehogs.

Function

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.

Clinical significance

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. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000139549 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000023000 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Kamisago M, Kimura M, Furutani Y, Furutani M, Takao A, Momma K, Matsuoka R (1999). "Assignment of human desert hedgehog gene (DHH) to chromosome band 12q13.1 by in situ hybridization". Cytogenet. Cell Genet. 87 (1–2): 117–8. doi:10.1159/000015376. PMID   10640830. S2CID   2152329.
6. Tate G, Satoh H, Endo Y, Mitsuya T (2000). "Assignment of desert hedgehog (DHH) to human chromosome bands 12q12→q13.1 by in situ hybridization". Cytogenet. Cell Genet. 88 (1–2): 93–4. doi:10.1159/000015495. PMID   10773676. S2CID   36364525.
7. "Entrez Gene: desert hedgehog homolog (Drosophila)".

External links

• DHH protein, human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

This article incorporates text from the United States National Library of Medicine, which is in the public domain.