HHIP
Summary: This gene encodes a member of the hedgehog-interacting protein (HHIP) family. The hedgehog (HH) proteins are evolutionarily conserved protein, which are important morphogens for a wide range of developmental processes, including anteroposterior patterns of limbs and regulation of left-right asymmetry in embryonic development. Multiple cell-surface receptors are responsible for transducing and/or regulating HH signals. The HHIP encoded by this gene is a highly conserved, vertebrate-specific inhibitor of HH signaling. It interacts with all three HH family members, SHH, IHH and DHH. Two single nucleotide polymorphisms (SNPs) near this gene are significantly associated with risk of chronic obstructive pulmonary disease (COPD). A single nucleotide polymorphism in this gene is also strongly associated with human height.[provided by RefSeq, Feb 2011].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
hedgehog interacting protein | MIM:606178 | Ensembl:ENSG00000164161 | HGNC:HGNC:14866 | PA29276 | 4q31.21 |
GO terms in HHIP
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IEA | GO:0003824 | catalytic activity |
MF | IPI | GO:0005515 | protein binding |
MF | IDA | GO:0008270 | zinc ion binding |
MF | IBA | GO:0097108 | hedgehog family protein binding |
MF | IPI | GO:0097108 | hedgehog family protein binding |
BP | IEA | GO:0007224 | smoothened signaling pathway |
BP | IEA | GO:0007405 | neuroblast proliferation |
BP | IEA | GO:0009953 | dorsal/ventral pattern formation |
BP | IDA | GO:0009968 | negative regulation of signal transduction |
BP | IEA | GO:0040036 | regulation of fibroblast growth factor receptor signaling pathway |
BP | IEA | GO:0043066 | negative regulation of apoptotic process |
BP | IBA | GO:0045879 | negative regulation of smoothened signaling pathway |
BP | ISS | GO:0045879 | negative regulation of smoothened signaling pathway |
BP | ISS | GO:0048705 | skeletal system morphogenesis |
BP | IEA | GO:0060441 | epithelial tube branching involved in lung morphogenesis |
CC | IEA | GO:0005576 | extracellular region |
CC | IEA | GO:0005634 | nucleus |
CC | IEA | GO:0005737 | cytoplasm |
CC | ISS | GO:0005887 | integral component of plasma membrane |
CC | IEA | GO:0009986 | cell surface |
CC | TAS | GO:0060170 | ciliary membrane |
Gene expression in normal tissue: HHIP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HHIP
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-162582 | Signal Transduction |
reactome | R-HSA-5358351 | Signaling by Hedgehog |
reactome | R-HSA-5632681 | Ligand-receptor interactions |
reactome | R-HSA-5632684 | Hedgehog 'on' state |
netpath | Pathway_Hedgehog | Hedgehog |
pid | hedgehog_2pathway | Signaling events mediated by the Hedgehog family |
kegg | hsa04024 | cAMP signaling pathway - Homo sapiens (human) |
kegg | hsa04340 | Hedgehog signaling pathway - Homo sapiens (human) |
kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
kegg | hsa05217 | Basal cell carcinoma - Homo sapiens (human) |
wikipathways | WP3313 | Hedgehog ,on, state |
wikipathways | WP4249 | Hedgehog Signaling Pathway |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HHIP