InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: IHH

Summary

InnateDB Protein

IDBP-81276.6

Last Modified

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

Gene Symbol

IHH

Protein Name

Indian hedgehog

Synonyms

BDA1; HHG2;

Species

Homo sapiens

Ensembl Protein

ENSP00000295731

InnateDB Gene

IDBG-81274 (IHH)

Protein Structure

UniProt Annotation

Function

Intercellular signal essential for a variety of patterning events during development. Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. Implicated in endochondral ossification: may regulate the balance between growth and ossification of the developing bones. Induces the expression of parathyroid hormone-related protein (PTHRP) (By similarity). {ECO:0000250}.

Subcellular Localization

Indian 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}.Indian hedgehog protein C-product: Secreted, extracellular space {ECO:0000250}. Note=The C-terminal peptide diffuses from the cell. {ECO:0000250}.Cell membrane {ECO:0000269PubMed:21537345}.

Disease Associations

Brachydactyly A1 (BDA1) [MIM:112500]: 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. {ECO:0000269PubMed:11455389, ECO:0000269PubMed:12384778}. Note=The disease is caused by mutations affecting the gene represented in this entry.Acrocapitofemoral dysplasia (ACFD) [MIM:607778]: A 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. {ECO:0000269PubMed:12632327}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in embryonic lung, and in adult kidney and liver.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	3 [view]
Protein-Protein	1 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	2 [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:0008233	peptidase activity

Biological Process

GO:0001501	skeletal system development
GO:0001503	ossification
GO:0001569	patterning of blood vessels
GO:0001649	osteoblast differentiation
GO:0001701	in utero embryonic development
GO:0001708	cell fate specification
GO:0001763	morphogenesis of a branching structure
GO:0001944	vasculature development
GO:0001947	heart looping
GO:0002053	positive regulation of mesenchymal cell proliferation
GO:0003382	epithelial cell morphogenesis
GO:0003406	retinal pigment epithelium development
GO:0006029	proteoglycan metabolic process
GO:0006508	proteolysis
GO:0007154	cell communication
GO:0007224	smoothened signaling pathway
GO:0007267	cell-cell signaling
GO:0007275	multicellular organismal development
GO:0007389	pattern specification process
GO:0008284	positive regulation of cell proliferation
GO:0009880	embryonic pattern specification
GO:0009968	negative regulation of signal transduction
GO:0016539	intein-mediated protein splicing
GO:0030154	cell differentiation
GO:0030704	vitelline membrane formation
GO:0031016	pancreas development
GO:0032332	positive regulation of chondrocyte differentiation
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:0043010	camera-type eye development
GO:0043066	negative regulation of apoptotic process
GO:0045453	bone resorption
GO:0045595	regulation of cell differentiation
GO:0045596	negative regulation of cell differentiation
GO:0045880	positive regulation of smoothened signaling pathway
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
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

Cellular Component

GO:0005615	extracellular space
GO:0005886	plasma membrane
GO:0031012	extracellular matrix

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
IPR006141 Intein splice site
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