| Predicate | Object |
|---|---|
| rdf:type | |
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
Hedgehog-interacting protein
|
| http://www.biopax.org/relea... |
HHIP_HUMAN
|
| http://www.biopax.org/relea... | |
| http://www.biopax.org/relea... |
HHIP,
HIP
|
| http://www.biopax.org/relea... |
FUNCTION: Modulates hedgehog signaling in several cell types including brain and lung through direct interaction with members of the hedgehog family. SUBUNIT: Interacts with all three hedgehog family members, SHH, IHH and DHH. SUBCELLULAR LOCATION: Cell membrane; Peripheral membrane protein (By similarity). Secreted (By similarity). Note=The last 22 C- terminal amino acids may participate in cell membrane attachment. SUBCELLULAR LOCATION: Isoform 2: Cytoplasm (Probable). ALTERNATIVE PRODUCTS: Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q96QV1-1; Sequence=Displayed; Name=2; IsoId=Q96QV1-2; Sequence=VSP_013192, VSP_013193; Note=Potentially soluble form; TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues. Highest expression in adult heart, liver and pancreas, and in fetal kidney. DOMAIN: A flexible loop interacts with the SHH zinc binding site and contributes to zinc binding. POLYMORPHISM: Genetic variations in HHIP define the stature quantitative trait locus 12 (STQTL12) [MIM:612226]. Adult height is an easily observable and highly heritable complex continuous trait. Because of this, it is a model trait for studying genetic influence on quantitative traits. SIMILARITY: Belongs to the HHIP family. SIMILARITY: Contains 2 EGF-like domains. SEQUENCE CAUTION: Sequence=BAB14945.1; Type=Erroneous initiation; Note=Translation N-terminally extended; GENE SYNONYMS: HIP. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.
|
| skos:exactMatch | |
| skos:closeMatch |