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Protein

Dynein regulatory complex protein 1

Gene

DRC1

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). Plays a critical role in the assembly of N-DRC and also stabilizes the assembly of multiple inner dynein arms and radial spokes. Coassembles with CCDC65/DRC2 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules (PubMed:23354437).By similarity1 Publication

GO - Biological processi

  • axonemal dynein complex assembly Source: UniProtKB
  • cilium-dependent cell motility Source: UniProtKB
  • determination of left/right symmetry Source: Ensembl
  • heart development Source: Ensembl

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein regulatory complex protein 1
Alternative name(s):
Coiled-coil domain-containing protein 164
Gene namesi
Name:DRC1
Synonyms:C2orf39, CCDC164
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000157856.10
HGNCiHGNC:24245 DRC1
MIMi615288 gene
neXtProtiNX_Q96MC2

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

Involvement in diseasei

Ciliary dyskinesia, primary, 21 (CILD21)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
See also OMIM:615294

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi92749
MalaCardsiDRC1
MIMi615294 phenotype
OpenTargetsiENSG00000157856
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA145149775

Polymorphism and mutation databases

BioMutaiDRC1
DMDMi126215680

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002778811 – 740Dynein regulatory complex protein 1Add BLAST740

Proteomic databases

PaxDbiQ96MC2
PeptideAtlasiQ96MC2
PRIDEiQ96MC2

PTM databases

iPTMnetiQ96MC2
PhosphoSitePlusiQ96MC2

Expressioni

Gene expression databases

BgeeiENSG00000157856
CleanExiHS_C2orf39
ExpressionAtlasiQ96MC2 baseline and differential
GenevisibleiQ96MC2 HS

Interactioni

Subunit structurei

Component of the nexin-dynein regulatory complex (N-DRC).By similarity

Protein-protein interaction databases

BioGridi124976, 6 interactors
IntActiQ96MC2, 2 interactors
STRINGi9606.ENSP00000288710

Structurei

3D structure databases

ProteinModelPortaliQ96MC2
SMRiQ96MC2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili101 – 388Sequence analysisAdd BLAST288
Coiled coili691 – 724Sequence analysisAdd BLAST34

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi573 – 612Glu-richAdd BLAST40

Sequence similaritiesi

Belongs to the DRC1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IEKG Eukaryota
ENOG410XQQ3 LUCA
GeneTreeiENSGT00730000111150
HOGENOMiHOG000007753
HOVERGENiHBG080997
InParanoidiQ96MC2
KOiK19754
OMAiKYHLVLT
OrthoDBiEOG091G06XQ
PhylomeDBiQ96MC2
TreeFamiTF324985

Family and domain databases

InterProiView protein in InterPro
IPR029440 DRC1_C
PfamiView protein in Pfam
PF14775 NYD-SP28_assoc, 1 hit

Sequencei

Sequence statusi: Complete.

Q96MC2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MNPPGSLEAL DPNVDEHLST QILAPSVHSD NSQERIQARR LRIAARLEAR
60 70 80 90 100
RREALGEYLD GKKESEEDQS KSYKQKEESR LKLAKLLLCG TELVTNIQVA
110 120 130 140 150
IDIREIHRRV EEEEIKRQRI EKLENEVKTS QDKFDEITSK WEEGKQKRIP
160 170 180 190 200
QELWEMLNTQ QLHCAGLLED KNKLISELQQ ELKTKDDQYV KDLKKQSDDI
210 220 230 240 250
CLLLERMEEQ VKNVMKTFRE ELYNIEKAFE VERQELLASN KKKWEQALQA
260 270 280 290 300
HNAKELEYLN NRMKKVEDYE KQLNRQRIWD CEEYNMIKIK LEQDVQILEQ
310 320 330 340 350
QLQQRKAIYQ LNQEKLEYNL QVLKKRDEES TVIKSQQKRK INRLHDILNN
360 370 380 390 400
LRSKYAKQIK QFQEENQSLT SDYKRLVMQF KELQKAMRHF ALIDDEKFWE
410 420 430 440 450
IWLMNEEEAK DLIARAFDVD RIIHTHHLGL PWAAPDFWFL NNVGPISQQP
460 470 480 490 500
QKSATQIVEE MLMRSEEEEA EEAAAEPESY LDLPKQISEK TTKRILMLLC
510 520 530 540 550
DESGFLIESK LLSLLLPLEQ NECYLLRLDA IFSALGIESE DDLYKLVNFF
560 570 580 590 600
LKYRAHRLSS SLQIKPCSQA SMEKASMEET STRSELELAE QTEMEGEKEE
610 620 630 640 650
SLVEGEKEEE EETPPSPWVI HPNDVLKILE AFVMGLKKPR DSRAPLRVQK
660 670 680 690 700
NVRDNSKDSE YWQALTTVIP SSKQNLWDAL YTALEKYHLV LTQRAKLLLE
710 720 730 740
NSSLEQQNTE LQALLQQYLN SKINSELQVP PTQVLRVPTK
Length:740
Mass (Da):87,134
Last modified:February 20, 2007 - v2
Checksum:i3CBF68B32B441C22
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti342N → D in BAF82642 (PubMed:14702039).Curated1
Sequence conflicti716Q → P in BAF82642 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030625357K → E1 PublicationCorresponds to variant dbSNP:rs3795958EnsemblClinVar.1
Natural variantiVAR_030626399W → R2 PublicationsCorresponds to variant dbSNP:rs939820EnsemblClinVar.1
Natural variantiVAR_030627633V → F. Corresponds to variant dbSNP:rs12623642EnsemblClinVar.1
Natural variantiVAR_030628702S → I. Corresponds to variant dbSNP:rs3172008Ensembl.1
Natural variantiVAR_057758734V → M. Corresponds to variant dbSNP:rs35313480EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057222 mRNA Translation: BAB71385.1
AK289953 mRNA Translation: BAF82642.1
AC010896 Genomic DNA Translation: AAY14647.1
AC093378 Genomic DNA Translation: AAY15082.1
AL833892 mRNA Translation: CAD38748.1
CCDSiCCDS1723.1
RefSeqiNP_659475.2, NM_145038.4
UniGeneiHs.393714

Genome annotation databases

EnsembliENST00000288710; ENSP00000288710; ENSG00000157856
GeneIDi92749
KEGGihsa:92749
UCSCiuc002rhg.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDRC1_HUMAN
AccessioniPrimary (citable) accession number: Q96MC2
Secondary accession number(s): A8K1N8
, Q53R91, Q53TA3, Q8NDI5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: April 25, 2018
This is version 110 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

Documents

  1. Human chromosome 2
    Human chromosome 2: 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. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families
  6. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

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