U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

DRC3 dynein regulatory complex subunit 3 [ Homo sapiens (human) ]

Gene ID: 83450, updated on 3-Apr-2024

Summary

Go to the top of the page Help
Official Symbol
DRC3provided by HGNC
Official Full Name
dynein regulatory complex subunit 3provided by HGNC
Primary source
HGNC:HGNC:25384
See related
Ensembl:ENSG00000171962 MIM:618758; AllianceGenome:HGNC:25384
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LRRC48; CFAP134
Summary
Located in axoneme. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 3.8), thyroid (RPKM 2.3) and 17 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See DRC3 in Genome Data Viewer
Location:
17p11.2; 17p11.2
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (17972813..18016889)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17919490..17963683)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17876127..17920203)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17722069-17722789 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11811 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17726733-17726883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8257 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11812 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11813 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17730461-17731182 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17731183-17731904 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17733682-17734430 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17734431-17735178 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17739175-17740076 Neighboring gene sterol regulatory element binding transcription factor 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17740077-17740979 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17740980-17741881 Neighboring gene microRNA 33b Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17743523-17744042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17745179-17745680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17747581-17748101 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17751860-17752706 Neighboring gene Sharpr-MPRA regulatory region 7387 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17762139-17762639 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11815 Neighboring gene target of myb1 like 2 membrane trafficking protein Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:17779053-17780252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17780613-17781334 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17787373-17788134 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17788135-17788894 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17792123-17792624 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11816 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11817 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17817644-17818266 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17823655-17824188 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17824189-17824722 Neighboring gene Sharpr-MPRA regulatory region 12990 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17825257-17825790 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17825791-17826324 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17826325-17826857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11818 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8262 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:17875207-17875776 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11819 Neighboring gene uncharacterized LOC107984989 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:17884370-17884870 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17898150-17898316 Neighboring gene brain protein I3 pseudogene 3 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene Sharpr-MPRA regulatory region 6800 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:17925691-17925854 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11821 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11822 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8265 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11823 Neighboring gene ATP synthase mitochondrial F1 complex assembly factor 2 Neighboring gene GID complex subunit 4 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11824 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17991145-17991646 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:17991647-17992146 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:18010366-18011013 Neighboring gene uncharacterized LOC105371566 Neighboring gene developmentally regulated GTP binding protein 2

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. DRC3 is an assembly adapter of the nexin-dynein regulatory complex functional components during spermatogenesis in humans and mice. Zhou S, et al. Signal Transduct Target Ther, 2023 Jan 10. PMID 36627292, Free PMC Article
  2. Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. Lucas RE, et al. Eur J Hum Genet, 2001 Dec. PMID 11840190
  3. The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. Wirschell M, et al. Nat Genet, 2013 Mar. PMID 23354437, Free PMC Article
  4. Loss of DRC1 function leads to multiple morphological abnormalities of the sperm flagella and male infertility in human and mouse. Zhang J, et al. Hum Mol Genet, 2021 Oct 13. PMID 34169321, Free PMC Article
  5. Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex. Olbrich H, et al. Am J Hum Genet, 2015 Oct 1. PMID 26387594, Free PMC Article

See all (21) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DRC3 is an assembly adapter of the nexin-dynein regulatory complex functional components during spermatogenesis in humans and mice.
    Title: DRC3 is an assembly adapter of the nexin-dynein regulatory complex functional components during spermatogenesis in humans and mice.
  2. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Biological insights from 108 schizophrenia-associated genetic loci.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • DKFZp586M1120

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Component Evidence Code Pubs
located_in axoneme IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cilium IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
  
located_in sperm flagellum ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

Go to the top of the page Help
Preferred Names
dynein regulatory complex subunit 3
Names
leucine rich repeat containing 48
leucine-rich repeat-containing protein 48

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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)

  1. NM_001130090.1 → NP_001123562.1  dynein regulatory complex subunit 3 isoform a

    See identical proteins and their annotated locations for NP_001123562.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AK093317, BC050665, DB032678
    Consensus CDS
    CCDS45622.1
    UniProtKB/Swiss-Prot
    A8KAE6, Q86SF9, Q86W73, Q8IWG0, Q9H069
    UniProtKB/TrEMBL
    B3KSC6
    Conserved Domains (2) summary
    sd00031
    Location:67 → 88
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:68 → 202
    LRR_9; Leucine-rich repeat

  2. NM_001130091.2 → NP_001123563.1  dynein regulatory complex subunit 3 isoform b

    See identical proteins and their annotated locations for NP_001123563.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 3' UTR and 3' coding region, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a. Both variants 3 and 4 encode the same isoform.
    Source sequence(s)
    AC087163, AK293011, BC040276, DB032678
    Consensus CDS
    CCDS45623.1
    UniProtKB/TrEMBL
    B3KSC6
    Related
    ENSP00000462661.1, ENST00000584166.5
    Conserved Domains (3) summary
    sd00031
    Location:67 → 88
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:65 → 105
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:66 → 121
    LRR_8; Leucine rich repeat

  3. NM_001130092.2 → NP_001123564.1  dynein regulatory complex subunit 3 isoform b

    See identical proteins and their annotated locations for NP_001123564.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, 3' UTR and 3' coding region, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a. Both variants 3 and 4 encode the same isoform.
    Source sequence(s)
    AC087163, BC040276, DB032678
    Consensus CDS
    CCDS45623.1
    UniProtKB/TrEMBL
    B3KSC6
    Related
    ENSP00000382136.1, ENST00000399182.5
    Conserved Domains (3) summary
    sd00031
    Location:67 → 88
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:65 → 105
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:66 → 121
    LRR_8; Leucine rich repeat

  4. NM_031294.4 → NP_112584.3  dynein regulatory complex subunit 3 isoform a

    See identical proteins and their annotated locations for NP_112584.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AK093317, BC047873, BC050665, DB032678
    Consensus CDS
    CCDS45622.1
    UniProtKB/Swiss-Prot
    A8KAE6, Q86SF9, Q86W73, Q8IWG0, Q9H069
    UniProtKB/TrEMBL
    B3KSC6
    Related
    ENSP00000382140.1, ENST00000399187.6
    Conserved Domains (2) summary
    sd00031
    Location:67 → 88
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:68 → 202
    LRR_9; Leucine-rich repeat

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    17972813..18016889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024450964.2 → XP_024306732.1  dynein regulatory complex subunit 3 isoform X3

    UniProtKB/TrEMBL
    B3KSC6
    Conserved Domains (2) summary
    sd00031
    Location:67 → 88
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:68 → 193
    LRR_9; Leucine-rich repeat

  2. XM_011524018.3 → XP_011522320.1  dynein regulatory complex subunit 3 isoform X1

    See identical proteins and their annotated locations for XP_011522320.1

    UniProtKB/TrEMBL
    B3KSC6
    Conserved Domains (2) summary
    sd00031
    Location:87 → 108
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:88 → 213
    LRR_9; Leucine-rich repeat

  3. XM_011524021.3 → XP_011522323.1  dynein regulatory complex subunit 3 isoform X2

    UniProtKB/TrEMBL
    B3KSC6
    Conserved Domains (3) summary
    sd00031
    Location:87 → 108
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:85 → 125
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:86 → 141
    LRR_8; Leucine rich repeat

  4. XM_024450963.2 → XP_024306731.1  dynein regulatory complex subunit 3 isoform X3

    UniProtKB/TrEMBL
    B3KSC6
    Conserved Domains (2) summary
    sd00031
    Location:67 → 88
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:68 → 193
    LRR_9; Leucine-rich repeat

  5. XM_011524023.3 → XP_011522325.1  dynein regulatory complex subunit 3 isoform X4

    See identical proteins and their annotated locations for XP_011522325.1

    UniProtKB/TrEMBL
    B3KSC6
    Conserved Domains (3) summary
    sd00031
    Location:87 → 108
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:85 → 125
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:86 → 141
    LRR_8; Leucine rich repeat

  6. XM_011524022.3 → XP_011522324.1  dynein regulatory complex subunit 3 isoform X4

    See identical proteins and their annotated locations for XP_011522324.1

    UniProtKB/TrEMBL
    B3KSC6
    Conserved Domains (3) summary
    sd00031
    Location:87 → 108
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:85 → 125
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:86 → 141
    LRR_8; Leucine rich repeat

  7. XM_047436875.1 → XP_047292831.1  dynein regulatory complex subunit 3 isoform X5

  8. XM_011524020.3 → XP_011522322.1  dynein regulatory complex subunit 3 isoform X1

    See identical proteins and their annotated locations for XP_011522322.1

    UniProtKB/TrEMBL
    B3KSC6
    Conserved Domains (2) summary
    sd00031
    Location:87 → 108
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:88 → 213
    LRR_9; Leucine-rich repeat

  9. XM_024450965.2 → XP_024306733.1  dynein regulatory complex subunit 3 isoform X3

    UniProtKB/TrEMBL
    B3KSC6
    Conserved Domains (2) summary
    sd00031
    Location:67 → 88
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:68 → 193
    LRR_9; Leucine-rich repeat

  10. XM_011524026.3 → XP_011522328.1  dynein regulatory complex subunit 3 isoform X6

    See identical proteins and their annotated locations for XP_011522328.1

RNA

  1. XR_934111.3 RNA Sequence

  2. XR_007065485.1 RNA Sequence

  3. XR_001752656.2 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    17919490..17963683
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054317467.1 → XP_054173442.1  dynein regulatory complex subunit 3 isoform X3

  2. XM_054317464.1 → XP_054173439.1  dynein regulatory complex subunit 3 isoform X1

  3. XM_054317465.1 → XP_054173440.1  dynein regulatory complex subunit 3 isoform X2

  4. XM_054317466.1 → XP_054173441.1  dynein regulatory complex subunit 3 isoform X3

  5. XM_054317469.1 → XP_054173444.1  dynein regulatory complex subunit 3 isoform X4

  6. XM_054317468.1 → XP_054173443.1  dynein regulatory complex subunit 3 isoform X4

  7. XM_054317470.1 → XP_054173445.1  dynein regulatory complex subunit 3 isoform X5

  8. XM_054317471.1 → XP_054173446.1  dynein regulatory complex subunit 3 isoform X6

RNA

  1. XR_008484950.1 RNA Sequence

  2. XR_008484949.1 RNA Sequence

  3. XR_008484948.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H069.2 GenPept UniProtKB/Swiss-Prot:Q9H069

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous