InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: DHH

Summary

InnateDB Protein

IDBP-31009.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

DHH

Protein Name

desert hedgehog

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000266991

InnateDB Gene

IDBG-31007 (DHH)

Protein Structure

UniProt Annotation

Function

Intercellular signal essential for a variety of patterning events during development. May function as a spermatocyte survival factor in the testes. Essential for testes development.

Subcellular Localization

Desert hedgehog protein N-product: Cell membrane {ECO:0000250}; Lipid-anchor {ECO:0000250}; Extracellular side {ECO:0000250}. Note=The N-terminal peptide remains associated with the cell surface. {ECO:0000250}.Desert hedgehog protein C-product: Secreted, extracellular space {ECO:0000250}. Note=The C-terminal peptide diffuses from the cell. {ECO:0000250}.

Disease Associations

Partial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD) [MIM:607080]: Characterized by the presence of a testis on one side and a streak or an absent gonad at the other, persistence of Muellerian duct structures, and a variable degree of genital ambiguity. {ECO:0000269PubMed:11017805}. Note=The disease may be caused by mutations affecting the gene represented in this entry.Complete pure gonadal dysgenesis 46,XY type (GDXYM) [MIM:233420]: Type of hypogonadism in which no functional gonads are present to induce puberty in an externally female person whose karyotype is then found to be XY. The gonads are found to be non- functional streaks. {ECO:0000269PubMed:15356051}. Note=The disease may be caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR000320 Hedgehog, N-terminal signalling domain
IPR001657 Hedgehog protein
IPR001767 Hedgehog protein, Hint domain
IPR003586 Hint domain C-terminal
IPR003587 Hint domain N-terminal
IPR009045 Hedgehog signalling/DD-peptidase zinc-binding domain
IPR028992 Hedgehog/Intein (Hint) domain

PFAM

PF01085
PF01079

PRINTS

PR00632

PIRSF

PIRSF009400

SMART

SM00305
SM00306

TIGRFAMs

Post-translational Modifications

Modification

Cross-References