Drc1 dynein regulatory complex subunit 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Drc1provided by MGI
Official Full Name: dynein regulatory complex subunit 1provided by MGI
Primary source: MGI:MGI:2685906
See related: Ensembl:ENSMUSG00000073102 AllianceGenome:MGI:2685906
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm1060; Ccdc164; b2b1654Clo
Summary: Acts upstream of or within determination of left/right symmetry and heart development. Is active in cytosol. Is expressed in brain; nasal cavity respiratory epithelium; and respiratory system epithelium. Used to study Kartagener syndrome; primary ciliary dyskinesia 21; and visceral heterotaxy. Human ortholog(s) of this gene implicated in primary ciliary dyskinesia 21. Orthologous to human DRC1 (dynein regulatory complex subunit 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 10.4), cortex adult (RPKM 2.7) and 5 other tissues See more
Orthologs: human all
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Genomic context

Location:: 5 B1; 5 16.42 cM

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (30486328..30524039)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (30281335..30366695)

Chromosome 5 - NC_000071.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
Gm1060 is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
Title: Tissue expression patterns identify mouse cilia genes.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (2)
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

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	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within axoneme assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium-dependent cell motility	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cilium-dependent cell motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium-dependent cell motility	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of cilium movement	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within single fertilization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sperm flagellum assembly	IMP Inferred from Mutant Phenotype more info	PubMed

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 cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cilium	IMP Inferred from Mutant Phenotype more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in motile cilium	IEA Inferred from Electronic Annotation more info
is_active_in sperm flagellum	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: dynein regulatory complex protein 1

Names: coiled-coil domain containing 164; 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.

mRNA and Protein(s)

NM_001033460.4 → NP_001028632.1 dynein regulatory complex protein 1

See identical proteins and their annotated locations for NP_001028632.1

Status: VALIDATED

Source sequence(s)

AC241618, AC242405

Consensus CDS

CCDS84857.1

UniProtKB/Swiss-Prot

B9EKF0, Q3USS3

Related

ENSMUSP00000098992.4, ENSMUST00000101448.5

Conserved Domains (2) summary

pfam14772
Location:100 → 200

NYD-SP28; Sperm tail

pfam14775
Location:673 → 731

NYD-SP28_assoc; Sperm tail C-terminal domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000071.7 Reference GRCm39 C57BL/6J

Range

30486328..30524039

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017320953.3 → XP_017176442.1 dynein regulatory complex protein 1 isoform X1

Conserved Domains (3) summary

COG1196
Location:117 → 372

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam14772
Location:100 → 200

NYD-SP28; Sperm tail

pfam14775
Location:644 → 699

NYD-SP28_assoc; Sperm tail C-terminal domain
XM_017320954.2 → XP_017176443.1 dynein regulatory complex protein 1 isoform X3

Conserved Domains (1) summary

pfam14775
Location:467 → 526

NYD-SP28_assoc; Sperm tail C-terminal domain
XM_036165255.1 → XP_036021148.1 dynein regulatory complex protein 1 isoform X3

Conserved Domains (1) summary

pfam14775
Location:467 → 526

NYD-SP28_assoc; Sperm tail C-terminal domain
XM_030254633.1 → XP_030110493.1 dynein regulatory complex protein 1 isoform X4

Conserved Domains (2) summary

pfam09787
Location:3 → 149

Golgin_A5; Golgin subfamily A member 5

pfam14775
Location:438 → 493

NYD-SP28_assoc; Sperm tail C-terminal domain
XM_036165253.1 → XP_036021146.1 dynein regulatory complex protein 1 isoform X2

Conserved Domains (3) summary

COG1196
Location:13 → 246

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam14772
Location:1 → 45

NYD-SP28; Sperm tail

pfam14775
Location:518 → 577

NYD-SP28_assoc; Sperm tail C-terminal domain
XM_036165254.1 → XP_036021147.1 dynein regulatory complex protein 1 isoform X2

Conserved Domains (3) summary

COG1196
Location:13 → 246

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

pfam14772
Location:1 → 45

NYD-SP28; Sperm tail

pfam14775
Location:518 → 577

NYD-SP28_assoc; Sperm tail C-terminal domain