Entity Details

Primary name DHH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO43323
EntryNameDHH_HUMAN
FullNameDesert hedgehog protein
TaxID9606
Evidenceevidence at protein level
Length396
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesDHH

GO terms

Show/Hide Table
GOName
GO:0001649 osteoblast differentiation
GO:0001708 cell fate specification
GO:0005113 patched binding
GO:0005509 calcium ion binding
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0007224 smoothened signaling pathway
GO:0007267 cell-cell signaling
GO:0007286 spermatid development
GO:0008233 peptidase activity
GO:0008270 zinc ion binding
GO:0010468 regulation of gene expression
GO:0016540 protein autoprocessing
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

Subcellular Location

Show/Hide Table
Subcellular Location
Cell membrane
Secreted

Domains

Show/Hide Table
DomainNameCategoryType
IPR000320 Hedgehog, N-terminal signalling domainDomainDomain
IPR001657 Hedgehog proteinFamilyFamily
IPR001767 Hedgehog protein, Hint domainDomainDomain
IPR003586 Hint domain C-terminalDomainDomain
IPR003587 Hint domain N-terminalDomainDomain
IPR009045 Hedgehog signalling/DD-peptidase zinc-binding domain superfamilyFamilyHomologous superfamily
IPR036844 Hint domain superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
607080 OMIMPartial gonadal dysgenesis with minifascicular neuropathy 46,XY (PGD)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. The disease may be caused by variants affecting the gene represented in this entry.
233420 OMIM46,XY sex reversal 7 (SRXY7)A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. SRXY7 patients have no functional gonads. The disease may be caused by variants affecting the gene represented in this entry.