Dhh desert hedgehog [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Dhhprovided by MGI
Official Full Name: desert hedgehogprovided by MGI
Primary source: MGI:MGI:94891
See related: Ensembl:ENSMUSG00000023000 AllianceGenome:MGI:94891
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables patched binding activity. Involved in several processes, including Schwann cell development; male gonad development; and paracrine signaling. Acts upstream of or within several processes, including Leydig cell differentiation; male sex determination; and osteoblast differentiation. Predicted to be located in plasma membrane. Predicted to be active in extracellular space. Is expressed in several structures, including brain; genitourinary system; gut; heart and pericardium; and yolk sac. Used to study 46,XY sex reversal. Human ortholog(s) of this gene implicated in 46,XY sex reversal and 46,XY sex reversal 7. Orthologous to human DHH (desert hedgehog signaling molecule). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in ovary adult (RPKM 10.4), testis adult (RPKM 4.0) and 7 other tissues See more
Orthologs: human all
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Genomic context

Location:: 15 F1; 15 55.05 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	15	NC_000081.7 (98779496..98796443, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	15	NC_000081.6 (98881615..98898562, complement)

Chromosome 15 - NC_000081.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Desert Hedgehog-Driven Endothelium Integrity Is Enhanced by Gas1 (Growth Arrest-Specific 1) but Negatively Regulated by Cdon (Cell Adhesion Molecule-Related/Downregulated by Oncogenes).
Title: Desert Hedgehog-Driven Endothelium Integrity Is Enhanced by Gas1 (Growth Arrest-Specific 1) but Negatively Regulated by Cdon (Cell Adhesion Molecule-Related/Downregulated by Oncogenes).
Identify Dhh (desert hedgehog) as a downstream effector of Klf2, whose expression in endothelial cells is upregulated by shear stress and decreased by inflammatory cytokines.
Title: Restoring Endothelial Function by Targeting Desert Hedgehog Downstream of Klf2 Improves Critical Limb Ischemia in Adults.
the critical role of Dhh in maintaining blood nerve barrier integrity and demonstrates for the first time that endothelial dysfunction is sufficient to induce neuropathy
Title: Impaired Hedgehog signalling-induced endothelial dysfunction is sufficient to induce neuropathy: implication in diabetes.
In organogenesis of the ovary, production of Dhh/Ihh in granulosa cells requires growth differentiation factor 9 from the oocyte.
Title: Lineage specification of ovarian theca cells requires multicellular interactions via oocyte and granulosa cells.
increased expression in cell bodies of cutaneous sensory nerves of dorsal root ganglia as compared with skin epithelia
Title: Basal cell carcinoma preferentially arises from stem cells within hair follicle and mechanosensory niches.
The results demonstrate a pivotal role for dhh in maintof this study aining myelination. Furthermore, dhh signaling reveals a potential target for therapeutic intervention to prevent and treat demyelination of peripheral nerves in compression neuropathies
Title: Desert hedgehog is a mediator of demyelination in compression neuropathies.
Hedgehog signaling is impaired in aged mice. Hegdehog-dependent regulation of angiogenesis and myogenesis involves distinct mechanisms.
Title: Hedgehog-dependent regulation of angiogenesis and myogenesis is impaired in aged mice.
Data indicate that the centrosomal protein DZIP1 interacts with GLI3 transcription factor in the cytoplasm and regulates Hedgehog signaling and ciliogenesis.
Title: Centrosomal protein DZIP1 regulates Hedgehog signaling by promoting cytoplasmic retention of transcription factor GLI3 and affecting ciliogenesis.
Desert hedgehog promotes ischemia-induced angiogenesis by ensuring peripheral nerve survival.
Title: Desert hedgehog promotes ischemia-induced angiogenesis by ensuring peripheral nerve survival.
Desert hedgehog-dependent transcription in T cells promotes T helper (Th)2 cell transcriptional programs and differentiation, exacerbating allergic disease.
Title: Tissue-derived hedgehog proteins modulate Th differentiation and disease.

Submit: New GeneRIF Correction See all GeneRIFs (19)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (3)
Targeted (4) 1 citation

General gene information

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Markers

Dhh (e-PCR), detects polymorphism
- UniSTS:142848

Dhh (e-PCR), detects polymorphism
- UniSTS:464666

NoName (e-PCR)
- UniSTS:548468

Dhh (e-PCR), detects polymorphism
- UniSTS:257000

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity more info
enables cholesterol-protein transferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables patched binding	IBA Inferred from Biological aspect of Ancestor more info
enables patched binding	IPI Inferred from Physical Interaction more info	PubMed
enables patched binding	ISO Inferred from Sequence Orthology more info
enables peptidase activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	ISO Inferred from Sequence Orthology more info
enables zinc ion binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Leydig cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within Leydig cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Schwann cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell fate specification	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell signaling	IEA Inferred from Electronic Annotation more info
involved_in intein-mediated protein splicing	IEA Inferred from Electronic Annotation more info
involved_in male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within male sex determination	IGI Inferred from Genetic Interaction more info	PubMed
involved_in myelination	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within osteoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in paracrine signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of smoothened signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of smoothened signaling pathway	ISS Inferred from Sequence or Structural Similarity more info
involved_in protein autoprocessing	IEA Inferred from Electronic Annotation more info
involved_in regulation of gene expression	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of steroid biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
involved_in response to estradiol	IEA Inferred from Electronic Annotation more info
involved_in response to estrogen	IEA Inferred from Electronic Annotation more info
involved_in self proteolysis	ISS Inferred from Sequence or Structural Similarity more info
involved_in smoothened signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within smoothened signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within spermatid development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: desert hedgehog protein

Names: HHG-3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_007857.5 → NP_031883.1 desert hedgehog protein preproprotein

See identical proteins and their annotated locations for NP_031883.1

Status: VALIDATED

Source sequence(s)

AC161165, AK032466, AK033392

Consensus CDS

CCDS27810.1

UniProtKB/Swiss-Prot

Q61488

UniProtKB/TrEMBL

Q544P6

Related

ENSMUSP00000023737.5, ENSMUST00000023737.6

Conserved Domains (2) summary

pfam01079
Location:188 → 395

Hint; Hint module

pfam01085
Location:40 → 185

HH_signal; Hedgehog amino-terminal signalling domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000081.7 Reference GRCm39 C57BL/6J

Range

98779496..98796443 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006520406.5 → XP_006520469.1 desert hedgehog protein isoform X1

Conserved Domains (2) summary

pfam01079
Location:74 → 281

Hint; Hint module

pfam01085
Location:1 → 71

HH_signal; Hedgehog amino-terminal signalling domain