UniProt functional annotation for O43323



	UniProt functional annotation for O43323

UniProt code: O43323.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

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.

Subunit: Interacts with BOC and CDON. Interacts with HHIP. {ECO:0000269|PubMed:19561611, ECO:0000269|PubMed:20519495}.

Subcellular location: [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}.

Subcellular location: [Desert hedgehog protein C-product]: Secreted, extracellular space {ECO:0000250}. Note=The C-terminal peptide diffuses from the cell. {ECO:0000250}.

Domain: The desert hedgehog protein N-product binds calcium and zinc ions; this stabilizes the protein fold and is essential for protein- protein interactions mediated by this domain. {ECO:0000269|PubMed:19561611, ECO:0000269|PubMed:20519495}.

Ptm: The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity. Both activities result in the cleavage of the full-length protein and covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N-terminal fragment (N-product). This covalent modification appears to play an essential role in restricting the spatial distribution of the protein activity to the cell surface. The N-product is the active species in both local and long-range signaling, whereas the C-product has no signaling activity (By similarity). {ECO:0000250}.

Disease: 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:0000269|PubMed:11017805}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Disease: 46,XY sex reversal 7 (SRXY7) [MIM:233420]: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. SRXY7 patients have no functional gonads. {ECO:0000269|PubMed:15356051}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Similarity: Belongs to the hedgehog family. {ECO:0000305}.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



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.


Subunit:		Interacts with BOC and CDON. Interacts with HHIP. {ECO:0000269\|PubMed:19561611, ECO:0000269\|PubMed:20519495}.
Subcellular location:		[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}.
Subcellular location:		[Desert hedgehog protein C-product]: Secreted, extracellular space {ECO:0000250}. Note=The C-terminal peptide diffuses from the cell. {ECO:0000250}.
Domain:		The desert hedgehog protein N-product binds calcium and zinc ions; this stabilizes the protein fold and is essential for protein- protein interactions mediated by this domain. {ECO:0000269\|PubMed:19561611, ECO:0000269\|PubMed:20519495}.
Ptm:		The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity. Both activities result in the cleavage of the full-length protein and covalent attachment of a cholesterol moiety to the C-terminal of the newly generated N-terminal fragment (N-product). This covalent modification appears to play an essential role in restricting the spatial distribution of the protein activity to the cell surface. The N-product is the active species in both local and long-range signaling, whereas the C-product has no signaling activity (By similarity). {ECO:0000250}.
Disease:		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:0000269\|PubMed:11017805}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Disease:		46,XY sex reversal 7 (SRXY7) [MIM:233420]: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. SRXY7 patients have no functional gonads. {ECO:0000269\|PubMed:15356051}. Note=The disease may be caused by variants affecting the gene represented in this entry.
Similarity:		Belongs to the hedgehog family. {ECO:0000305}.