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Protein

Dynein regulatory complex subunit 3

Gene

DRC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

Component of the nexin-dynein regulatory complex (N-DRC) a key regulator of ciliary/flagellar motility which maintains the alignment and integrity of the distal axoneme and regulates microtubule sliding in motile axonemes.By similarity

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein regulatory complex subunit 3
Alternative name(s):
Leucine-rich repeat-containing protein 48
Gene namesi
Name:DRC3
Synonyms:LRRC48
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000171962.17
HGNCiHGNC:25384 DRC3
neXtProtiNX_Q9H069

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton, Flagellum

Pathology & Biotechi

Organism-specific databases

DisGeNETi83450
OpenTargetsiENSG00000171962
PharmGKBiPA142671508

Polymorphism and mutation databases

BioMutaiLRRC48
DMDMi74761374

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002277741 – 523Dynein regulatory complex subunit 3Add BLAST523

Proteomic databases

PaxDbiQ9H069
PeptideAtlasiQ9H069
PRIDEiQ9H069
ProteomicsDBi80207
80208 [Q9H069-2]

PTM databases

iPTMnetiQ9H069
PhosphoSitePlusiQ9H069

Expressioni

Gene expression databases

BgeeiENSG00000171962
CleanExiHS_LRRC48
ExpressionAtlasiQ9H069 baseline and differential
GenevisibleiQ9H069 HS

Organism-specific databases

HPAiHPA036040
HPA036041

Interactioni

Subunit structurei

Component of the nexin-dynein regulatory complex (N-DRC). Interacts with TCTE1/DRC5.By similarity

Protein-protein interaction databases

BioGridi123652, 20 interactors
IntActiQ9H069, 1 interactor
STRINGi9606.ENSP00000326870

Structurei

3D structure databases

ProteinModelPortaliQ9H069
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati44 – 65LRR 1Add BLAST22
Repeati66 – 87LRR 2Add BLAST22
Repeati88 – 109LRR 3Add BLAST22
Repeati110 – 131LRR 4Add BLAST22
Repeati132 – 153LRR 5Add BLAST22
Domaini166 – 204LRRCTAdd BLAST39

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili208 – 242Sequence analysisAdd BLAST35
Coiled coili366 – 391Sequence analysisAdd BLAST26

Sequence similaritiesi

Belongs to the DRC3 family.Curated

Keywords - Domaini

Coiled coil, Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0531 Eukaryota
COG4886 LUCA
GeneTreeiENSGT00900000140836
HOGENOMiHOG000007647
HOVERGENiHBG079481
InParanoidiQ9H069
OMAiDKFVIIC
OrthoDBiEOG091G0NY3
PhylomeDBiQ9H069
TreeFamiTF323974

Family and domain databases

Gene3Di3.80.10.10, 1 hit
InterProiView protein in InterPro
IPR001611 Leu-rich_rpt
IPR032675 LRR_dom_sf
PROSITEiView protein in PROSITE
PS51450 LRR, 5 hits

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9H069-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MNQPCNSMEP RVMDDDMLKL AVGDQGPQEE AGQLAKQEGI LFKDVLSLQL
60 70 80 90 100
DFRNILRIDN LWQFENLRKL QLDNNIIEKI EGLENLAHLV WLDLSFNNIE
110 120 130 140 150
TIEGLDTLVN LEDLSLFNNR ISKIDSLDAL VKLQVLSLGN NRIDNMMNII
160 170 180 190 200
YLRRFKCLRT LSLSRNPISE AEDYKMFICA YLPDLMYLDY RRIDDHTKKL
210 220 230 240 250
AEAKHQYSID ELKHQENLMQ AQLEDEQAQR EELEKHKTAF VEHLNGSFLF
260 270 280 290 300
DSMYAEDSEG NNLSYLPGVG ELLETYKDKF VIICVNIFEY GLKQQEKRKT
310 320 330 340 350
ELDTFSECVR EAIQENQEQG KRKIAKFEEK HLSSLSAIRE ELELPNIEKM
360 370 380 390 400
ILECSADISE LFDALMTLEM QLVEQLEETI NMFERNIVDM VGLFIENVQS
410 420 430 440 450
LMAQCRDLEN HHHEKLLEIS ISTLEKIVEG DLDEDLPNDL RALFVDKDTI
460 470 480 490 500
VNAVGASHDI HLLKIDNRED ELVTRINSWC TRLIDRIHKD EIMRNRKRVK
510 520
EINQYIDHMQ SELDNLECGD ILD
Length:523
Mass (Da):61,054
Last modified:October 25, 2004 - v2
Checksum:iB36DF1E42318D768
GO
Isoform 2 (identifier: Q9H069-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     443-457: LFVDKDTIVNAVGAS → GRFQKFNYVEASGTF
     458-523: Missing.

Show »
Length:457
Mass (Da):53,205
Checksum:i1929FC5AF2854E21
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_051120159R → Q. Corresponds to variant dbSNP:rs8072048Ensembl.1
Natural variantiVAR_025625191R → W1 PublicationCorresponds to variant dbSNP:rs4584886Ensembl.1
Natural variantiVAR_051121364A → V. Corresponds to variant dbSNP:rs11656629Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_017578443 – 457LFVDK…AVGAS → GRFQKFNYVEASGTF in isoform 2. 2 PublicationsAdd BLAST15
Alternative sequenceiVSP_017579458 – 523Missing in isoform 2. 2 PublicationsAdd BLAST66

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136926 mRNA Translation: CAB66860.2
AK293011 mRNA Translation: BAF85700.1
BC040276 mRNA Translation: AAH40276.1
BC047873 mRNA Translation: AAH47873.1
BC050419 mRNA Translation: AAH50419.1
BC050665 mRNA Translation: AAH50665.1
CCDSiCCDS45622.1 [Q9H069-1]
CCDS45623.1 [Q9H069-2]
RefSeqiNP_001123562.1, NM_001130090.1 [Q9H069-1]
NP_001123563.1, NM_001130091.1 [Q9H069-2]
NP_001123564.1, NM_001130092.1 [Q9H069-2]
NP_112584.3, NM_031294.3 [Q9H069-1]
UniGeneiHs.579264

Genome annotation databases

EnsembliENST00000313838; ENSP00000326870; ENSG00000171962 [Q9H069-1]
ENST00000399182; ENSP00000382136; ENSG00000171962 [Q9H069-2]
ENST00000399187; ENSP00000382140; ENSG00000171962 [Q9H069-1]
ENST00000584166; ENSP00000462661; ENSG00000171962 [Q9H069-2]
GeneIDi83450
KEGGihsa:83450
UCSCiuc032ewk.2 human [Q9H069-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDRC3_HUMAN
AccessioniPrimary (citable) accession number: Q9H069
Secondary accession number(s): A8KAE6
, Q86SF9, Q86W73, Q8IWG0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: October 25, 2004
Last modified: June 20, 2018
This is version 138 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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