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

Gene ID: 92749, updated on 23-Nov-2021

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
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; 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
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Genomic context

See DRC1 in Genome Data Viewer
Location:
2p23.3
Exon count:
17
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (26401920..26456713)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (26624788..26679579)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374334 Neighboring gene adhesion G protein-coupled receptor F3 Neighboring gene selenoprotein I Neighboring gene Sharpr-MPRA regulatory region 888 Neighboring gene otoferlin Neighboring gene family with sequence similarity 166 member C

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Ciliary dyskinesia, primary, 21
MedGen: C3809087 OMIM: 615294 GeneReviews: Primary Ciliary Dyskinesia
Compare labs
Genome-wide association study of monoamine metabolite levels in human cerebrospinal fluid.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ32660, MGC16372

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in axonemal dynein complex assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
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
PubMed 
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

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.

Genomic

  1. NG_042824.1 RefSeqGene

    Range
    5009..59800
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_145038.5NP_659475.2  dynein regulatory complex protein 1

    See identical proteins and their annotated locations for NP_659475.2

    Status: REVIEWED

    Source sequence(s)
    AC093378, AK057222, BC009488, DB021259, KF459613
    Consensus CDS
    CCDS1723.1
    UniProtKB/Swiss-Prot
    Q96MC2
    Related
    ENSP00000288710.2, ENST00000288710.7
    Conserved Domains (2) summary
    pfam14772
    Location:102200
    NYD-SP28; Sperm tail
    pfam14775
    Location:660718
    NYD-SP28_assoc; Sperm tail C-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    26401920..26456713
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264637.3XP_005264694.1  dynein regulatory complex protein 1 isoform X1

    Conserved Domains (1) summary
    pfam14775
    Location:454512
    NYD-SP28_assoc; Sperm tail C-terminal domain
  2. XM_024453218.1XP_024308986.1  dynein regulatory complex protein 1 isoform X2

    Conserved Domains (1) summary
    pfam14775
    Location:320378
    NYD-SP28_assoc; Sperm tail C-terminal domain
  3. XM_017005271.1XP_016860760.1  dynein regulatory complex protein 1 isoform X2

    Conserved Domains (1) summary
    pfam14775
    Location:320378
    NYD-SP28_assoc; Sperm tail C-terminal domain
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