DRC1 - dynein regulatory complex subunit 1 Gene

Also Known as CILD21; C2orf39; CCDC164

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 92749

About DRC1

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:26,401,920-26,456,711 (from NCBI)

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

Gene Ontology

Molecular Function
Biological Process

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

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DRC1 Protein Structure

NYD-SP28

NYD-SP28_assoc

0
200
400
600
740 a.a.

Protein Preferred Names	Protein Names
dynein regulatory complex protein 1	coiled-coil domain-containing protein 164

Related Diseases

Diseases	Alias
Ciliary Dyskinesia, Primary, 21	CILD21 Primary Ciliary Dyskinesia 21 Primary Ciliary Dyskinesia 21 Without Situs Inversus Ciliary Dyskinesia, Primary, 21, Without Situs Inversus Dyskinesia, Ciliary, Primary, 21
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Non-Syndromic Male Infertility Due To Sperm Motility Disorder	Non-Syndromic Male Infertility Due Asthenozoospermia
Ciliary Dyskinesia, Primary, 27	Primary Ciliary Dyskinesia 27 CILD27 Ciliary Dyskinesia, Primary, 27, Without Situs Inversus Primary Ciliary Dyskinesia 27 Without Situs Inversus Primary Ciliary Dyskinesia 27 With Or Without Situs Inversus Dyskinesia, Ciliary, Primary, 27
Kartagener Syndrome	Kartagener'S Syndrome
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Ciliary Dyskinesia, Primary, 4	Primary Ciliary Dyskinesia 4 CILD4 Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus Primary Ciliary Dyskinesia, 4
Ciliary Dyskinesia, Primary, 8	Primary Ciliary Dyskinesia 8 CILD8 Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus
Chronic Purulent Otitis Media	Chronic Suppurative Otitis Media Csom - [Chronic Suppurative Otitis Media]
Suppurative Otitis Media	Otitis Media With Effusion - Purulent Purulent Otitis Media Otitis Media, Suppurative
Dextrocardia	Heart Predominantly In Right Hemithorax Heart In Right Chest Right-Sided Heart Congenital Dextrocardia Of Heart Transposition Of Heart
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	상품명	효과	Purity	Rare Diseases
HY-RS03192	CRNN Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS03991	DRC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20719	Drc1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27230	Drc1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

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