IHH
Indian hedgehog protein
Also known as: BDA1, HHG2, IHH_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q14623
- Gene
- IHH
- Ensembl
- ENSG00000163501
- Chromosome
- 2
- Canonical length
- 411 aa
- Protein class
- Disease related genes, Human disease related genes, Plasma proteins, Predicted secreted proteins
- Secretome location
- Secreted in other tissues
OverviewNCBI Gene
This gene encodes a member of the hedgehog family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including an N-terminal fragment that is involved in signaling. Hedgehog family proteins are essential secreted signaling molecules that regulate a variety of developmental processes including growth, patterning and morphogenesis. The protein encoded by this gene specifically plays a role in bone growth and differentiation. Mutations in this gene are the cause of brachydactyly type A1, which is characterized by shortening or malformation of the fingers and toes. Mutations in this gene are also the cause of acrocapitofemoral dysplasia. [provided by RefSeq, Nov 2015]
Canonical amino-acid sequenceUniProt
411 residues, UniProt reviewed canonical sequence.
>Q14623|IHH
1 MSPARLRPRL HFCLVLLLLL VVPAAWGCGP GRVVGSRRRP PRKLVPLAYK QFSPNVPEKT
61 LGASGRYEGK IARSSERFKE LTPNYNPDII FKDEENTGAD RLMTQRCKDR LNSLAISVMN
121 QWPGVKLRVT EGWDEDGHHS EESLHYEGRA VDITTSDRDR NKYGLLARLA VEAGFDWVYY
181 ESKAHVHCSV KSEHSAAAKT GGCFPAGAQV RLESGARVAL SAVRPGDRVL AMGEDGSPTF
241 SDVLIFLDRE PHRLRAFQVI ETQDPPRRLA LTPAHLLFTA DNHTEPAARF RATFASHVQP
301 GQYVLVAGVP GLQPARVAAV STHVALGAYA PLTKHGTLVV EDVVASCFAA VADHHLAQLA
361 FWPLRLFHSL AWGSWTPGEG VHWYPQLLYR LGRLLLEEGS FHPLGMSGAG SLocalizationUniProt · AlphaFold · HPA
Whether an antibody against IHH can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.29
- Highest tissue expression
- 18 nTPM
Expression across tissuesHPA
Tissue
- colon: 18 nTPM
- stomach: 14 nTPM
- endometrium: 13 nTPM
- rectum: 12 nTPM
- duodenum: 12 nTPM
- small intestine: 12 nTPM
Single-cell type
- colonocytes: 54 nCPM
- neuroendocrine cells: 54 nCPM
- goblet cells: 51 nCPM
- epididymal efferent duct absorptive cells: 37 nCPM
- epididymal efferent duct ciliated cells: 31 nCPM
- enteric stem cells: 27 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- cerebral cortex: 5 nTPM
- pons: 0.9 nTPM
- medulla oblongata: 0.8 nTPM
- spinal cord: 0.7 nTPM
- thalamus: 0.4 nTPM
- cerebellum: 0.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about IHH.
Disease | AllUniProt
Conditions IHH is implicated in, by any mechanism.
- Brachydactyly A1 (BDA1) MIM:112500
- Acrocapitofemoral dysplasia (ACFD) MIM:607778
Disease | GeneticClinVar
50 pathogenic / likely-pathogenic of 343 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Brachydactyly type A1
- Acrocapitofemoral dysplasia
- Brachydactyly type A1A
- Hirschsprung disease, susceptibility to, 1
- IHH-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.61
- gnomAD pLI
- 0.31
- gnomAD missense Z
- 1.45
- DepMap mean gene effect
- 0.04
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- bone resorption
- branching involved in blood vessel morphogenesis
- cell fate specification
- cell maturation
- cell-cell signaling
- chondrocyte differentiation involved in endochondral bone morphogenesis
- chondrocyte proliferation
- embryonic camera-type eye morphogenesis
- embryonic digestive tract morphogenesis
- embryonic digit morphogenesis
- embryonic pattern specification
- embryonic skeletal joint development
- epithelial cell morphogenesis
- epithelial cell-cell adhesion
- head morphogenesis
- heart looping
- in utero embryonic development
- intein-mediated protein splicing
- liver regeneration
- maternal process involved in female pregnancy
- multicellular organism growth
- negative regulation of alpha-beta T cell differentiation
- negative regulation of apoptotic process
- negative regulation of chondrocyte differentiation
- negative regulation of immature T cell proliferation in thymus
- negative regulation of T cell differentiation in thymus
- neuron development
- osteoblast differentiation
- pancreas development
- positive regulation of alpha-beta T cell differentiation
- positive regulation of collagen biosynthetic process
- positive regulation of epithelial cell proliferation
- positive regulation of mesenchymal cell proliferation
- positive regulation of smoothened signaling pathway
- positive regulation of T cell differentiation in thymus
- positive regulation of transcription by RNA polymerase II
- protein autoprocessing
- proteoglycan metabolic process
- regulation of gene expression
- regulation of growth
- response to estradiol
- response to mechanical stimulus
- retinal pigment epithelium development
- self proteolysis
- skeletal system development
- smooth muscle tissue development
- smoothened signaling pathway
- somite development
- camera-type eye photoreceptor cell fate commitment
- negative regulation of eye pigmentation
- vitelline membrane formation
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Hedgehog, N-terminal signalling domain
- Hedgehog protein
- Hedgehog protein, Hint domain
- Hint domain C-terminal
- Hint domain N-terminal
- Intein N-terminal splicing region
- Peptidase M74/Hedgehog-like, zinc-binding domain superfamily
- Hint domain superfamily
- Hedgehog Signaling
- Hint module
- Hedgehog amino-terminal signalling domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of IHH in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads IHH as an antibody target. Whether an autoantibody or antibody against IHH could matter depends on whether native IHH is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
IHH is annotated at the cell surface, where native IHH is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label IHH as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
Loading the interactive Seroatlas protein explorer...