DRC1 dynein regulatory complex subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DRC1provided by HGNC
Official Full Name: dynein regulatory complex subunit 1provided by HGNC
Primary source: HGNC:HGNC:24245
See related: Ensembl:ENSG00000157856 MIM:615288; AllianceGenome:HGNC:24245
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CILD21; SPGF80; C2orf39; CCDC164
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]
Expression: Restricted expression toward testis (RPKM 14.3) See more
Orthologs: mouse all
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Genomic context

Location:: 2p23.3

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (26401920..26456711)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (26440521..26495334)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (26624788..26679579)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.
Title: Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.
Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia.
Title: Prevalence and founder effect of DRC1 exon 1-4 deletion in Korean patients with primary ciliary dyskinesia.
Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse.
Title: Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse.
Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population.
Title: Copy number variation in DRC1 is the major cause of primary ciliary dyskinesia in the Japanese population.
Study report a 50-year-old Japanese male and 5 years old girl of Korean descent with primary ciliary dyskinesia (PCD) harboring a large homozygous deletion spanning exons 1- 4 of the DRC1. Four carriers of the same deletion among 965 Asian individuals were identified, whereas no deletion was found in the 23,951 non-Asians. Authors speculate that the DRC1 deletion is a recurrent or perhaps founder PCD mutation in Asians.
Title: Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients.
Loss-of-function mutations disrupting DRC1 result in severe defects in assembly of the N-DRC structure and defective ciliary movement in Chlamydomonas reinhardtii and humans
Title: The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Primary ciliary dyskinesia 21 MedGen: C3809087 OMIM: 615294 GeneReviews: Primary Ciliary Dyskinesia	not available
Spermatogenic failure 80 MedGen: C5774301 OMIM: 620222 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in axonemal dynein complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in axonemal dynein complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium-dependent cell motility	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium-dependent cell motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in determination of left/right symmetry	IEA Inferred from Electronic Annotation more info
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in regulation of cilium movement	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of axonemal dynein complex	IEA Inferred from Electronic Annotation more info
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dynein regulatory complex protein 1

Names: coiled-coil domain-containing protein 164

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.