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Protein

Dynein regulatory complex protein 1

Gene

DRC1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

Key component of the nexin-dynein regulatory complex (N-DRC), essential for N-DRC integrity. Required for the assembly and regulation of specific classes of inner dynein arm motors. May also function to restrict dynein-driven microtubule sliding, thus aiding in the generation of ciliary bending.1 Publication

GO - Biological processi

  • axonemal dynein complex assembly Source: UniProtKB
  • bacterial-type flagellum-dependent cell motility Source: UniProtKB
  • cilium-dependent cell motility Source: UniProtKB
  • determination of left/right symmetry Source: Ensembl
  • heart development Source: Ensembl
Complete GO annotation...

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

HGNCiHGNC:24245. DRC1.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

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

MalaCardsiDRC1.
MIMi615294. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA145149775.

Polymorphism and mutation databases

BioMutaiDRC1.
DMDMi126215680.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 740740Dynein regulatory complex protein 1PRO_0000277881Add
BLAST

Proteomic databases

EPDiQ96MC2.
PaxDbiQ96MC2.
PeptideAtlasiQ96MC2.
PRIDEiQ96MC2.

PTM databases

iPTMnetiQ96MC2.
PhosphoSiteiQ96MC2.

Expressioni

Gene expression databases

BgeeiENSG00000157856.
CleanExiHS_C2orf39.
ExpressionAtlasiQ96MC2. baseline and differential.
GenevisibleiQ96MC2. HS.

Interactioni

Protein-protein interaction databases

BioGridi124976. 6 interactions.
IntActiQ96MC2. 2 interactions.
STRINGi9606.ENSP00000288710.

Structurei

3D structure databases

ProteinModelPortaliQ96MC2.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili101 – 388288Sequence analysisAdd
BLAST
Coiled coili691 – 72434Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi573 – 61240Glu-richAdd
BLAST

Sequence similaritiesi

Belongs to the DRC1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

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

Family and domain databases

InterProiIPR029440. DRC1_C.
[Graphical view]
PfamiPF14775. NYD-SP28_assoc. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti342 – 3421N → D in BAF82642 (PubMed:14702039).Curated
Sequence conflicti716 – 7161Q → P in BAF82642 (PubMed:14702039).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti357 – 3571K → E.1 Publication
Corresponds to variant rs3795958 [ dbSNP | Ensembl ].
VAR_030625
Natural varianti399 – 3991W → R.2 Publications
Corresponds to variant rs939820 [ dbSNP | Ensembl ].
VAR_030626
Natural varianti633 – 6331V → F.
Corresponds to variant rs12623642 [ dbSNP | Ensembl ].
VAR_030627
Natural varianti702 – 7021S → I.
Corresponds to variant rs3172008 [ dbSNP | Ensembl ].
VAR_030628
Natural varianti734 – 7341V → M.
Corresponds to variant rs35313480 [ dbSNP | Ensembl ].
VAR_057758

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

Cross-referencesi

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.

3D structure databases

ProteinModelPortaliQ96MC2.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124976. 6 interactions.
IntActiQ96MC2. 2 interactions.
STRINGi9606.ENSP00000288710.

PTM databases

iPTMnetiQ96MC2.
PhosphoSiteiQ96MC2.

Polymorphism and mutation databases

BioMutaiDRC1.
DMDMi126215680.

Proteomic databases

EPDiQ96MC2.
PaxDbiQ96MC2.
PeptideAtlasiQ96MC2.
PRIDEiQ96MC2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi92749.
GeneCardsiDRC1.
H-InvDBHIX0001896.
HGNCiHGNC:24245. DRC1.
MalaCardsiDRC1.
MIMi615288. gene.
615294. phenotype.
neXtProtiNX_Q96MC2.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA145149775.
GenAtlasiSearch...

Phylogenomic databases

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

Miscellaneous databases

GenomeRNAii92749.
PROiQ96MC2.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000157856.
CleanExiHS_C2orf39.
ExpressionAtlasiQ96MC2. baseline and differential.
GenevisibleiQ96MC2. HS.

Family and domain databases

InterProiIPR029440. DRC1_C.
[Graphical view]
PfamiPF14775. NYD-SP28_assoc. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDRC1_HUMAN
AccessioniPrimary (citable) accession number: Q96MC2
Secondary accession number(s): A8K1N8
, Q53R91, Q53TA3, Q8NDI5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 20, 2007
Last sequence update: February 20, 2007
Last modified: September 7, 2016
This is version 101 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 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

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.