HYDIN Gene Summary [Human]
This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]
Details
| Type | Protein Coding |
| Official Symbol | HYDIN |
| Official Name | HYDIN axonemal central pair apparatus protein [Source:HGNC Symbol;Acc:HGNC:19368] |
| Ensembl ID | ENSG00000157423 |
| Bio databases IDs | |
| Aliases | HYDIN axonemal central pair apparatus protein, protein phosphatase 1, regulatory subunit 31 |
| Synonyms | 1700034M11RIK, 4930545D19RIK, 4932703P14, A830061H17, AC069308.21gm4, CILD5, DKFZP434L0850, FLJ14665, Gm9558, hy-3, HYDIN1, HYDIN2, HYDIN axonemal central pair apparatus protein, HYDIN, axonemal central pair apparatus protein, hyrh, KIAA1864, PPP1R31 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human HYDIN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Arginine and glutamate-rich 1
- Cgr1 family
- Hydin Adenylate kinase-like domain
- Ezrin/radixin/moesin, alpha-helical domain
- UDM1_RNF168_RNF169-like
- protein binding
- PLC-beta C terminal
- Troponin
- MAP7 (E-MAP-115) family
- Chromatin assembly factor 1 complex p150 subunit, N-terminal
- Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin
- ALMS motif
- Domain of unknown function (DUF4200)
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
regulates
disease
- schizophrenia
- hypertension
- primary ciliary dyskinesia type 5
- celiac disease
- paroxysmal supraventricular tachycardia
- primary ciliary dyskinesia
- Alzheimer disease
- chronic obstructive pulmonary disease
- head and neck cancer
- myopia
phenotypes
- Primary ciliary dyskinesia
- CILIARY DYSKINESIA PRIMARY 5
role in cell
- development
- movement
- beat
- stalling
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- cilia
- Mitochondria
- sperm tail
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human HYDIN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- ventricular system development
- trachea development
- epithelial cell development
- cilium movement
Cellular Component
Where in the cell the gene product is active
- axoneme