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

    Gene ID: 83450, updated on 28-Oct-2024

    Summary

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    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, Oct 2024]
    Expression
    Broad expression in testis (RPKM 3.8), thyroid (RPKM 2.3) and 17 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DRC3 in Genome Data Viewer
    Location:
    17p11.2; 17p11.2
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (17972813..18016889)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (17919490..17963683)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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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    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

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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

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    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

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

    NCBI Reference Sequences (RefSeq)

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    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_2024_08

    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

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