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Protein

Dynein regulatory complex subunit 3

Gene

DRC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 3 out of 5-Experimental evidence at transcript leveli

Functioni

Key component of the nexin-dynein regulatory complex (N-DRC), a key regulator of ciliary motility.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

HGNCiHGNC:25384. DRC3.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA142671508.

Polymorphism and mutation databases

BioMutaiLRRC48.
DMDMi74761374.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 523523Dynein regulatory complex subunit 3PRO_0000227774Add
BLAST

Proteomic databases

PaxDbiQ9H069.
PeptideAtlasiQ9H069.
PRIDEiQ9H069.

Expressioni

Gene expression databases

BgeeiENSG00000171962.
CleanExiHS_LRRC48.
ExpressionAtlasiQ9H069. baseline and differential.
GenevisibleiQ9H069. HS.

Organism-specific databases

HPAiHPA036040.
HPA036041.

Interactioni

Protein-protein interaction databases

MINTiMINT-3065444.
STRINGi9606.ENSP00000326870.

Structurei

3D structure databases

ProteinModelPortaliQ9H069.
SMRiQ9H069. Positions 47-227.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati44 – 6522LRR 1Add
BLAST
Repeati66 – 8722LRR 2Add
BLAST
Repeati88 – 10922LRR 3Add
BLAST
Repeati110 – 13122LRR 4Add
BLAST
Repeati132 – 15322LRR 5Add
BLAST
Domaini166 – 20439LRRCTAdd
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili208 – 24235Sequence analysisAdd
BLAST
Coiled coili366 – 39126Sequence analysisAdd
BLAST

Sequence similaritiesi

Belongs to the DRC3 family.Curated
Contains 5 LRR (leucine-rich) repeats.Curated
Contains 1 LRRCT domain.Curated

Keywords - Domaini

Coiled coil, Leucine-rich repeat, Repeat

Phylogenomic databases

eggNOGiKOG0531. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00730000110223.
HOGENOMiHOG000007647.
HOVERGENiHBG079481.
InParanoidiQ9H069.
OMAiEKMILEC.
OrthoDBiEOG091G0NY3.
PhylomeDBiQ9H069.
TreeFamiTF323974.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 5 hits.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti159 – 1591R → Q.
Corresponds to variant rs8072048 [ dbSNP | Ensembl ].
VAR_051120
Natural varianti191 – 1911R → W.1 Publication
Corresponds to variant rs4584886 [ dbSNP | Ensembl ].
VAR_025625
Natural varianti364 – 3641A → V.
Corresponds to variant rs11656629 [ dbSNP | Ensembl ].
VAR_051121

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei443 – 45715LFVDK…AVGAS → GRFQKFNYVEASGTF in isoform 2. 2 PublicationsVSP_017578Add
BLAST
Alternative sequencei458 – 52366Missing in isoform 2. 2 PublicationsVSP_017579Add
BLAST

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ9H069.
SMRiQ9H069. Positions 47-227.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

MINTiMINT-3065444.
STRINGi9606.ENSP00000326870.

Polymorphism and mutation databases

BioMutaiLRRC48.
DMDMi74761374.

Proteomic databases

PaxDbiQ9H069.
PeptideAtlasiQ9H069.
PRIDEiQ9H069.

Protocols and materials databases

DNASUi83450.
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi83450.
GeneCardsiLRRC48.
HGNCiHGNC:25384. DRC3.
HPAiHPA036040.
HPA036041.
neXtProtiNX_Q9H069.
PharmGKBiPA142671508.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0531. Eukaryota.
COG4886. LUCA.
GeneTreeiENSGT00730000110223.
HOGENOMiHOG000007647.
HOVERGENiHBG079481.
InParanoidiQ9H069.
OMAiEKMILEC.
OrthoDBiEOG091G0NY3.
PhylomeDBiQ9H069.
TreeFamiTF323974.

Miscellaneous databases

ChiTaRSiLRRC48. human.
GeneWikiiLRRC48.
GenomeRNAii83450.
PROiQ9H069.

Gene expression databases

BgeeiENSG00000171962.
CleanExiHS_LRRC48.
ExpressionAtlasiQ9H069. baseline and differential.
GenevisibleiQ9H069. HS.

Family and domain databases

Gene3Di3.80.10.10. 1 hit.
InterProiIPR032675. L_dom-like.
IPR001611. Leu-rich_rpt.
[Graphical view]
SUPFAMiSSF52058. SSF52058. 1 hit.
PROSITEiPS51450. LRR. 5 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDRC3_HUMAN
AccessioniPrimary (citable) accession number: Q9H069
Secondary accession number(s): A8KAE6
, Q86SF9, Q86W73, Q8IWG0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 21, 2006
Last sequence update: October 25, 2004
Last modified: September 7, 2016
This is version 126 of the entry and version 2 of the sequence. [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

Documents

  1. Human chromosome 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.