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UniProt functional annotation for Q96QV1 | ||
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| UniProt code: Q96QV1. |
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| Organism: | |
Homo sapiens (Human). |
| Taxonomy: | |
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. |
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| Function: | |
Modulates hedgehog signaling in several cell types including brain and lung through direct interaction with members of the hedgehog family. {ECO:0000269|PubMed:11472839, ECO:0000269|PubMed:19561609}. |
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| Subunit: | |
Interacts with all three hedgehog family members, SHH, IHH and DHH. {ECO:0000269|PubMed:11472839, ECO:0000269|PubMed:19561609, ECO:0000269|PubMed:19561611}. |
| Subcellular location: | |
Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Secreted {ECO:0000250}. Note=The last 22 C- terminal amino acids may participate in cell membrane attachment. |
| Subcellular location: | |
[Isoform 2]: Cytoplasm {ECO:0000305}. |
| Tissue specificity: | |
Widely expressed in fetal and adult tissues. Highest expression in adult heart, liver and pancreas, and in fetal kidney. {ECO:0000269|PubMed:11435703, ECO:0000269|Ref.1}. |
| 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:612224]. 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. {ECO:0000269|PubMed:18391950}. |
| Miscellaneous: | |
[Isoform 2]: Potentially soluble form. {ECO:0000305}. |
| Similarity: | |
Belongs to the HHIP family. {ECO:0000305}. |
| Sequence caution: | |
Sequence=BAB14945.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; |
Annotations taken from UniProtKB at the EBI.