DRC1 - dynein regulatory complex subunit 1 Gene
Also Known as CILD21; C2orf39; CCDC164
Species: Homo sapiens
About DRC1
This gene has 8 transcripts (splice variants), 189 orthologues, 1 paralogue and is associated with 4 phenotypes. Restricted expression toward testis (RPKM 14.3).
Summary
This gene encodes a central component of the nexin-dynein complex (N-DRC), which regulates the assembly of ciliary dynein. Mutations in this gene can cause ciliary dyskinesia. [provided by RefSeq, Aug 2015]
DRC1 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_145038.5 | NP_659475.2 | dynein regulatory complex protein 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
34169321 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in axonemal dynein complex assembly |
IMP
IMP: Inferred from mutant phenotype
|
23354437 | GOA |
| involved in cilium-dependent cell motility |
IMP
IMP: Inferred from mutant phenotype
|
23354437 | GOA |
DRC1 Protein Structure
NYD-SP28: Sperm tail (98 - 201)
NYD-SP28_assoc: Sperm tail C-terminal domain (660 - 719)
- 0
- 200
- 400
- 600
- 740 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dynein regulatory complex protein 1 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Ciliary Dyskinesia, Primary, 21 |
|
|
| Primary Ciliary Dyskinesia |
|
|
| Non-Syndromic Male Infertility Due To Sperm Motility Disorder |
|
|
| Ciliary Dyskinesia, Primary, 27 |
|
|
| Kartagener Syndrome |
|
|
| Situs Inversus |
|
|
| Ciliary Dyskinesia, Primary, 4 |
|
|
| Ciliary Dyskinesia, Primary, 8 |
|
|
| Chronic Purulent Otitis Media |
|
|
| Suppurative Otitis Media |
|
|
| Dextrocardia |
|
|
| Visceral Heterotaxy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | DRC1 | VGNC | VGNC:28205 |
| Macaca mulatta | DRC1 | VGNC | VGNC:71892 |
| Felis catus | DRC1 | VGNC | VGNC:61623 |
| Mus musculus | DRC1 | MGD | MGI:2685906 |
| Rattus norvegicus | DRC1 | RGD | RGD:1359318 |
| Canis familiaris | DRC1 | VGNC | VGNC:40091 |
| Others | DRC1 | NCBI |