IHH
entrez
3549
canonical
uniprot
Q14623
canonical
ensembl
ENSG00000163501
resolver
ensp
ENSP00000295731
resolver
enst
ENST00000295731
resolver
genesymbol
IHH
resolver
hgnc
HGNC:5956
resolver
uniprot
B9EGM5
resolver
uniprot
O43322
resolver
uniprot
Q8N4B9
resolver
uniprot_entry
IHH_HUMAN
resolver
uniprot_sec
B9EGM5
resolver
uniprot_sec
O43322
resolver
uniprot_sec
Q8N4B9
resolver
amino_acid_sequence
MSPARLRPRLHFCLVLLLLLVVPAAWGCGPGRVVGSRRRPPRKLVPLAYKQFSPNVPEKTLGASGRYEGKIARSSERFKELTPNYNPDIIFKDEENTGADRLMTQRCKDRLNSLAISVMNQWPGVKLRVTEGWDEDGHHSEESLHYEGRAVDITTSDRDRNKYGLLARLAVEAGFDWVYYESKAHVHCSVKSEHSAAAKTGGCFPAGAQVRLESGARVALSAVRPGDRVLAMGEDGSPTFSDVLIFLDREPHRLRAFQVIETQDPPRRLALTPAHLLFTADNHTEPAARFRATFASHVQPGQYVLVAGVPGLQPARVAAVSTHVALGAYAPLTKHGTLVVEDVVASCFAAVADHHLAQLAFWPLRLFHSLAWGSWTPGEGVHWYPQLLYRLGRLLLEEGSFHPLGMSGAGS
uniprot
proteins
disease_involvement
DISEASE: Brachydactyly A1 (BDA1) [MIM:112500]: An autosomal dominant form of brachydactyly, 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. Some BDA1 affected individuals exhibit short stature. {ECO:0000269|PubMed:11455389, ECO:0000269|PubMed:12384778, ECO:0000269|PubMed:21537345}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Acrocapitofemoral dysplasia (ACFD) [MIM:607778]: 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. {ECO:0000269|PubMed:12632327}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.1.-.-
uniprot
proteins
function
FUNCTION: [Indian hedgehog protein]: Precursor of indian hedgehog, a morphogen that activates the smoothened signaling pathway, and which is essential for bone and cartilage development (By similarity). The C-terminal part of the precursor displays an autoproteolysis and a cholesterol transferase activity, resulting (1) in the cleavage of the full-length protein into two parts, indian hedgehog protein N-product and C-product and (2) covalent attachment of a cholesterol moiety to the C-terminus of the newly generated N-product (By similarity). Both autoproteolysis and a cholesterol transferase activities occur in the endoplasmic reticulum (By similarity). Following additional lipidation, N-product acts as a morphogen, while C-product is degraded in the endoplasmic reticulum (By similarity). {ECO:0000250|UniProtKB:P97812, ECO:0000250|UniProtKB:Q62226}.; FUNCTION: [Indian hedgehog protein N-product]: The dually lipidated indian hedgehog protein N-product is a morphogen that activates the smoothened signaling pathway, and which is essential for bone and cartilage development (By similarity). Acts by binding to the patched receptor (PTCH1 or PTCH2), relieving smoothened (SMO) inhibition by patched, activating the smoothened signaling pathway and transcription of target genes (By similarity). In the absence of IHH, patched represses the constitutive signaling activity of SMO (By similarity). Plays a role in morphogenesis of the skeleton by coordinating growth and differentiation of the endochondral skeleton (By similarity). Positively regulates PTHLH expression during endochondral bone formation preventing chondrocyte hypertrophy (By similarity). In contrast, participates in normal chondrocyte proliferation in a PTHLH-independent pathway (By similarity). Involved in the development of retinal pigment epithelium (RPE), photoreceptors and periocular tissues (By similarity). Plays a role in hedgehog paracrine signaling (PubMed:24342078). Associated with the very-low-density lipoprotein (VLDL) particles to function as a circulating morphogen for endothelial cell integrity maintenance (PubMed:20839884). {ECO:0000250|UniProtKB:P97812, ECO:0000250|UniProtKB:Q62226, ECO:0000269|PubMed:20839884, ECO:0000269|PubMed:24342078}.
uniprot
proteins
mass_dalton
45251
uniprot
proteins
mutagenesis
MUTAGEN 95; /note="E->G: Increases the lysosomal degradation of the indian hedgehog protein N-product."; /evidence="ECO:0000269|PubMed:21537345
uniprot
proteins
post_translational_modification
PTM: [Indian hedgehog protein]: The C-terminal domain displays an autoproteolysis activity and a cholesterol transferase activity (By similarity). 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) (By similarity). N-product is the active species in both local and long-range signaling, whereas the C-product is degraded in the endoplasmic reticulum (By similarity). {ECO:0000250|UniProtKB:Q62226}.; PTM: [Indian hedgehog protein N-product]: Dually lipidated: a cholesterol moiety is attached to its C-terminus following cleavage (PubMed:21537345). N-palmitoylated by HHAT following cholesterylation; palmitoylation is required for indian hedgehog protein N-product multimerization and full activity (PubMed:21537345, PubMed:9593755). {ECO:0000269|PubMed:21537345, ECO:0000269|PubMed:9593755}.
uniprot
proteins
protein_family
Hedgehog family
uniprot
proteins
pubmed
11455389
uniprot
proteins
pubmed
12384778
uniprot
proteins
pubmed
12632327
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16335952
uniprot
proteins
pubmed
20519495
uniprot
proteins
pubmed
20839884
uniprot
proteins
pubmed
21537345
uniprot
proteins
pubmed
24342078
uniprot
proteins
pubmed
7590746
uniprot
proteins
pubmed
7720571
uniprot
proteins
pubmed
9593755
uniprot
proteins
sequence_length
411
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Indian hedgehog protein]: Endoplasmic reticulum membrane {ECO:0000250|UniProtKB:Q15465}. Golgi apparatus membrane {ECO:0000250|UniProtKB:Q15465}. Note=Co-localizes with HHAT in the ER and Golgi membrane. {ECO:0000250|UniProtKB:Q15465}.; SUBCELLULAR LOCATION: [Indian hedgehog protein N-product]: Secreted {ECO:0000269|PubMed:24342078}. Cell membrane {ECO:0000269|PubMed:21537345}; Lipid-anchor {ECO:0000250|UniProtKB:Q15465}. Note=The dual-lipidated N-product is tethered to the cell membrane where it forms multimers (By similarity). Further solubilization from the cell surface is required to promote its release from producing cells and act as a morphogen for distant signaling (By similarity). {ECO:0000250|UniProtKB:Q15465}.
uniprot
proteins