RSPH4A
Summary: This gene encodes a protein that appears to be a component the radial spoke head, as determined by homology to similar proteins in the biflagellate alga Chlamydomonas reinhardtii and other ciliates. Radial spokes, which are regularly spaced along cilia, sperm, and flagella axonemes, consist of a thin 'stalk' and a bulbous 'head' that form a signal transduction scaffold between the central pair of microtubules and dynein. Mutations in this gene cause primary ciliary dyskinesia 1, a disease arising from dysmotility of motile cilia and sperm. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| radial spoke head component 4A | MIM:612647 | Ensembl:ENSG00000111834 | HGNC:HGNC:21558 | PA164725568 | 6q22.1 |
GO terms in RSPH4A
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | ISS | GO:0001534 | radial spoke |
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IC | GO:0005930 | axoneme |
| CC | IDA | GO:0005930 | axoneme |
| CC | IC | GO:0031514 | motile cilium |
| BP | IMP | GO:0003341 | cilium movement |
| BP | IMP | GO:0035082 | axoneme assembly |
| MF | ND | GO:0003674 | molecular_function |
Gene expression in normal tissue: RSPH4A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in RSPH4A
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in RSPH4A
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