Entity Details

Primary name IHH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ14623
EntryNameIHH_HUMAN
FullNameIndian hedgehog protein
TaxID9606
Evidenceevidence at protein level
Length411
SequenceStatuscomplete
DateCreated1999-07-15
DateModified2021-06-02

Ontological Relatives

GenesIHH

GO terms

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GOName
GO:0001501 skeletal system development
GO:0001569 branching involved in blood vessel morphogenesis
GO:0001649 osteoblast differentiation
GO:0001701 in utero embryonic development
GO:0001708 cell fate specification
GO:0001947 heart looping
GO:0002053 positive regulation of mesenchymal cell proliferation
GO:0003382 epithelial cell morphogenesis
GO:0003406 retinal pigment epithelium development
GO:0003413 chondrocyte differentiation involved in endochondral bone morphogenesis
GO:0005113 patched binding
GO:0005509 calcium ion binding
GO:0005615 extracellular space
GO:0005886 plasma membrane
GO:0006029 proteoglycan metabolic process
GO:0007224 smoothened signaling pathway
GO:0007267 cell-cell signaling
GO:0008233 peptidase activity
GO:0009612 response to mechanical stimulus
GO:0009880 embryonic pattern specification
GO:0010468 regulation of gene expression
GO:0016539 intein-mediated protein splicing
GO:0016540 protein autoprocessing
GO:0030704 vitelline membrane formation
GO:0031012 extracellular matrix
GO:0031016 pancreas development
GO:0032355 response to estradiol
GO:0032967 positive regulation of collagen biosynthetic process
GO:0033085 negative regulation of T cell differentiation in thymus
GO:0033088 negative regulation of immature T cell proliferation in thymus
GO:0033089 positive regulation of T cell differentiation in thymus
GO:0035264 multicellular organism growth
GO:0035988 chondrocyte proliferation
GO:0040008 regulation of growth
GO:0042733 embryonic digit morphogenesis
GO:0043066 negative regulation of apoptotic process
GO:0045453 bone resorption
GO:0045880 positive regulation of smoothened signaling pathway
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0046638 positive regulation of alpha-beta T cell differentiation
GO:0046639 negative regulation of alpha-beta T cell differentiation
GO:0048074 negative regulation of eye pigmentation
GO:0048469 cell maturation
GO:0048557 embryonic digestive tract morphogenesis
GO:0048596 embryonic camera-type eye morphogenesis
GO:0048666 neuron development
GO:0048745 smooth muscle tissue development
GO:0050679 positive regulation of epithelial cell proliferation
GO:0051216 cartilage development
GO:0060135 maternal process involved in female pregnancy
GO:0060220 camera-type eye photoreceptor cell fate commitment
GO:0060323 head morphogenesis
GO:0061053 somite development
GO:0072498 embryonic skeletal joint development
GO:0090136 epithelial cell-cell adhesion
GO:0097421 liver regeneration

Subcellular Location

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Subcellular Location
Cell membrane
Secreted

Domains

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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
IPR006141 Intein N-terminal splicing regionPTMPTM
IPR009045 Hedgehog signalling/DD-peptidase zinc-binding domain superfamilyFamilyHomologous superfamily
IPR033385 Indian hedgehog proteinFamilyFamily
IPR036844 Hint domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
607778 OMIMAcrocapitofemoral dysplasia (ACFD)An autosomal recessive disorder characterized by short stature of variable severity with postnatal onset. The most constant radiographic abnormalities are observed in the tubular bones of the hands and in the proximal part of the femur. Cone-shaped epiphyses or a similar epiphyseal configuration with premature epimetaphyseal fusion result in shortening of the skeletal components involved. Cone-shaped epiphyses are also present to a variable extent at the shoulders, knees and ankles. The disease is caused by variants affecting the gene represented in this entry.
112500 OMIMBrachydactyly A1 (BDA1)A form of brachydactyly. Brachydactyly defines a group of inherited malformations characterized by shortening of the digits due to abnormal development of the phalanges and/or the metacarpals. Brachydactyly type A1 is characterized by middle phalanges of all the digits rudimentary or fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are short. BDA1 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.