DRC3 - dynein regulatory complex subunit 3 Gene

Also Known as LRRC48; CFAP134

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 83450

About DRC3

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:17,972,813-18,016,889 (from NCBI)

This gene has 18 transcripts (splice variants), 202 orthologues and 13 paralogues. Broad expression in testis (RPKM 3.8), thyroid (RPKM 2.3) and 17 other tissues.

Summary

Located in axoneme. [provided by Alliance of Genome Resources, Apr 2022]

DRC3 Products (4)

mRNA	Protein	Name
NM_001130090.1	NP_001123562.1	dynein regulatory complex subunit 3 isoform a
NM_001130091.2	NP_001123563.1	dynein regulatory complex subunit 3 isoform b
NM_001130092.2	NP_001123564.1	dynein regulatory complex subunit 3 isoform b
NM_031294.4	NP_112584.3	dynein regulatory complex subunit 3 isoform a

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in axoneme	IDA IDA: Inferred from direct assay	26387594	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

DRC3 Protein Structure

LRR_9

0
100
200
300
400
500
523 a.a.

Protein Preferred Names	Protein Names
dynein regulatory complex subunit 3	leucine rich repeat containing 48

Related Diseases

Diseases	Alias
Smith-Magenis Syndrome	SMS Chromosome 17p11.2 Deletion Syndrome 17p11.2 Microdeletion Syndrome 17p11.2 Monosomy Chromosome 17p Deletion Syndrome Del(17) P11.2 17p- Syndrome Deletion 17p Syndrome Partial Monosomy 17p
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
Potocki-Lupski Syndrome	PTLS Chromosome 17p11.2 Duplication Syndrome 17p11.2 Microduplication Syndrome Duplication 17p11.2 Syndrome Trisomy 17p11.2 Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2)) 17p11.2 Duplication Syndrome Dup(17)(P11.2p11.2) Pls Chromosome 17, Trisomy 17p11 2

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03992	DRC3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04455	EPS8L1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20154	Eps8l1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	DRC3	VGNC	VGNC:61624
Bos taurus	DRC3	VGNC	VGNC:52763
Rattus norvegicus	DRC3	RGD	RGD:1309150
Canis familiaris	DRC3	VGNC	VGNC:53350
Mus musculus	DRC3	MGD	MGI:1921915
Macaca mulatta	DRC3	VGNC	VGNC:71906
Others	DRC3	NCBI