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

Gene ID: 83450, updated on 22-May-2018

Summary

Official Symbol
DRC3provided by HGNC
Official Full Name
dynein regulatory complex subunit 3provided by HGNC
Primary source
HGNC:HGNC:25384
See related
Ensembl:ENSG00000171962 Vega:OTTHUMG00000059355
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
Expression
Broad expression in testis (RPKM 3.8), thyroid (RPKM 2.3) and 17 other tissues See more
Orthologs

Genomic context

See DRC3 in Genome Data Viewer
Location:
17p11.2
Exon count:
20
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (17972766..18016889)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (17876127..17920203)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene sterol regulatory element binding transcription factor 1 Neighboring gene microRNA 33b Neighboring gene target of myb1 like 2 membrane trafficking protein Neighboring gene uncharacterized LOC107984989 Neighboring gene brain protein I3 pseudogene 3 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene ATP synthase mitochondrial F1 complex assembly factor 2 Neighboring gene GID complex subunit 4 homolog Neighboring gene uncharacterized LOC105371566 Neighboring gene developmentally regulated GTP binding protein 2

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 Jun 15 11:32:44 2016

General gene information

Markers

Homology

Clone Names

  • DKFZp586M1120

Gene Ontology Provided by GOA

Component Evidence Code Pubs
axoneme IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
 
motile cilium IEA
Inferred from Electronic Annotation
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_001130090.1NP_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
    Q9H069
    UniProtKB/TrEMBL
    B3KSC6
    Conserved Domains (2) summary
    sd00031
    Location:6788
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:68202
    LRR_9; Leucine-rich repeat
  2. NM_001130091.1NP_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)
    AK293011, BC040276, DB032678
    Consensus CDS
    CCDS45623.1
    UniProtKB/Swiss-Prot
    Q9H069
    Related
    ENSP00000462661.1, OTTHUMP00000260088, ENST00000584166.5, OTTHUMT00000443447
    Conserved Domains (3) summary
    sd00031
    Location:6788
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:65105
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:66121
    LRR_8; Leucine rich repeat
  3. NM_001130092.1NP_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)
    BC040276, DB032678
    Consensus CDS
    CCDS45623.1
    UniProtKB/Swiss-Prot
    Q9H069
    Related
    ENSP00000382136.1, OTTHUMP00000065663, ENST00000399182.5, OTTHUMT00000131948
    Conserved Domains (3) summary
    sd00031
    Location:6788
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:65105
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:66121
    LRR_8; Leucine rich repeat
  4. NM_031294.3NP_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
    Q9H069
    UniProtKB/TrEMBL
    B3KSC6
    Related
    ENSP00000382140.1, OTTHUMP00000065661, ENST00000399187.5, OTTHUMT00000131945
    Conserved Domains (2) summary
    sd00031
    Location:6788
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:68202
    LRR_9; Leucine-rich repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    17972766..18016889
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011524023.2XP_011522325.1  dynein regulatory complex subunit 3 isoform X5

    See identical proteins and their annotated locations for XP_011522325.1

    Conserved Domains (3) summary
    sd00031
    Location:87108
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:85125
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:86141
    LRR_8; Leucine rich repeat
  2. XM_011524022.2XP_011522324.1  dynein regulatory complex subunit 3 isoform X5

    See identical proteins and their annotated locations for XP_011522324.1

    Conserved Domains (3) summary
    sd00031
    Location:87108
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:85125
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:86141
    LRR_8; Leucine rich repeat
  3. XM_011524018.2XP_011522320.1  dynein regulatory complex subunit 3 isoform X1

    See identical proteins and their annotated locations for XP_011522320.1

    Conserved Domains (2) summary
    sd00031
    Location:87108
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:88213
    LRR_9; Leucine-rich repeat
  4. XM_011524020.2XP_011522322.1  dynein regulatory complex subunit 3 isoform X1

    See identical proteins and their annotated locations for XP_011522322.1

    Conserved Domains (2) summary
    sd00031
    Location:87108
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:88213
    LRR_9; Leucine-rich repeat
  5. XM_024450961.1XP_024306729.1  dynein regulatory complex subunit 3 isoform X1

    Conserved Domains (2) summary
    sd00031
    Location:87108
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:88213
    LRR_9; Leucine-rich repeat
  6. XM_011524021.2XP_011522323.1  dynein regulatory complex subunit 3 isoform X2

    Conserved Domains (3) summary
    sd00031
    Location:87108
    LRR_1; leucine-rich repeat [structural motif]
    pfam12799
    Location:85125
    LRR_4; Leucine Rich repeats (2 copies)
    pfam13855
    Location:86141
    LRR_8; Leucine rich repeat
  7. XM_024450965.1XP_024306733.1  dynein regulatory complex subunit 3 isoform X3

    Conserved Domains (2) summary
    sd00031
    Location:6788
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:68193
    LRR_9; Leucine-rich repeat
  8. XM_024450964.1XP_024306732.1  dynein regulatory complex subunit 3 isoform X3

    Conserved Domains (2) summary
    sd00031
    Location:6788
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:68193
    LRR_9; Leucine-rich repeat
  9. XM_024450963.1XP_024306731.1  dynein regulatory complex subunit 3 isoform X3

    Conserved Domains (2) summary
    sd00031
    Location:6788
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:68193
    LRR_9; Leucine-rich repeat
  10. XM_024450966.1XP_024306734.1  dynein regulatory complex subunit 3 isoform X4

    Conserved Domains (2) summary
    sd00031
    Location:6788
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:68202
    LRR_9; Leucine-rich repeat
  11. XM_024450962.1XP_024306730.1  dynein regulatory complex subunit 3 isoform X1

    Conserved Domains (2) summary
    sd00031
    Location:87108
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:88213
    LRR_9; Leucine-rich repeat
  12. XM_011524019.2XP_011522321.1  dynein regulatory complex subunit 3 isoform X1

    See identical proteins and their annotated locations for XP_011522321.1

    Conserved Domains (2) summary
    sd00031
    Location:87108
    LRR_1; leucine-rich repeat [structural motif]
    pfam14580
    Location:88213
    LRR_9; Leucine-rich repeat
  13. XM_011524025.2XP_011522327.1  dynein regulatory complex subunit 3 isoform X6

    See identical proteins and their annotated locations for XP_011522327.1

  14. XM_011524026.2XP_011522328.1  dynein regulatory complex subunit 3 isoform X6

    See identical proteins and their annotated locations for XP_011522328.1

RNA

  1. XR_934110.2 RNA Sequence

  2. XR_934111.2 RNA Sequence

  3. XR_001752656.1 RNA Sequence

  4. XR_934109.2 RNA Sequence

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