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Protein

Dynein regulatory complex subunit 2

Gene

CCDC65

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein 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 DRC1 to form a central scaffold needed for assembly of the N-DRC and its attachment to the outer doublet microtubules (PubMed:24094744).By similarity1 Publication

GO - Biological processi

  • axonemal dynein complex assembly Source: GO_Central
  • cilium assembly Source: UniProtKB
  • cilium-dependent cell motility Source: GO_Central
  • regulation of cilium movement Source: UniProtKB

Names & Taxonomyi

Protein namesi
Recommended name:
Dynein regulatory complex subunit 21 Publication
Alternative name(s):
Coiled-coil domain-containing protein 65
Testis development protein NYD-SP28
Gene namesi
Name:CCDC65
Synonyms:DRC21 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000139537.10
HGNCiHGNC:29937 CCDC65
MIMi611088 gene
neXtProtiNX_Q8IXS2

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, 27 (CILD27)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. Cilia ultrastructure show normal outer dynein arms, radial spokes and central pairs, but a reduction in inner dynein arms and nexin links. In 5%-15% of cilia, microtubules are disorganized. Nasal epithelial cilia reveal a stiff, dyskinetic cilia waveform.
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:615504

Keywords - Diseasei

Ciliopathy, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi85478
MalaCardsiCCDC65
MIMi615504 phenotype
OpenTargetsiENSG00000139537
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA143485417

Polymorphism and mutation databases

BioMutaiCCDC65
DMDMi74728229

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002847781 – 484Dynein regulatory complex subunit 2Add BLAST484

Proteomic databases

EPDiQ8IXS2
MaxQBiQ8IXS2
PaxDbiQ8IXS2
PeptideAtlasiQ8IXS2
PRIDEiQ8IXS2
ProteomicsDBi71055
71056 [Q8IXS2-2]

PTM databases

iPTMnetiQ8IXS2
PhosphoSitePlusiQ8IXS2

Expressioni

Tissue specificityi

Highly expressed in adult testis, in spermatocytes and spermatids. Also observed in spermatogonia. Not detected in Leydig cells, nor in fetal testis (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000139537 Expressed in 121 organ(s), highest expression level in testis
CleanExiHS_CCDC65
ExpressionAtlasiQ8IXS2 baseline and differential
GenevisibleiQ8IXS2 HS

Organism-specific databases

HPAiHPA038520
HPA057573

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi124553, 5 interactors
STRINGi9606.ENSP00000312706

Structurei

3D structure databases

ProteinModelPortaliQ8IXS2
SMRiQ8IXS2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili92 – 160Sequence analysisAdd BLAST69
Coiled coili374 – 403Sequence analysisAdd BLAST30

Sequence similaritiesi

Belongs to the DRC2 family.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IE4Y Eukaryota
ENOG410XQTS LUCA
GeneTreeiENSGT00730000111193
HOGENOMiHOG000059628
HOVERGENiHBG103693
InParanoidiQ8IXS2
OMAiQMKKIQR
OrthoDBiEOG091G0BMS
PhylomeDBiQ8IXS2
TreeFamiTF326074

Family and domain databases

InterProiView protein in InterPro
IPR039505 DRC1/2_N
IPR039750 DRC1/DRC2
PANTHERiPTHR21625 PTHR21625, 1 hit
PfamiView protein in Pfam
PF14772 NYD-SP28, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IXS2-1) [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
MPKKEKMAKT PLSDEKQLLL FQQKLLAEEE MAKKKERLLS QFLKDKLAKE
60 70 80 90 100
EHNSALNLNK INTQWRTVLR EVKTRELHKD IEILSQTFER VVDCKDNVIK
110 120 130 140 150
SLAKDLSEAE EQYAHALRSH LHNVDQLLAL QRHRLSLLEE SYNMELEALT
160 170 180 190 200
KEFETERKTI IDQHEKEIHY LQDIFMAMEQ NYIDSEYESK LEFQSMWNDL
210 220 230 240 250
KNMNLEEKHF LRLHLENRVE DLWRKFQDVL KNYTDATEDR KAAFETLQVK
260 270 280 290 300
DEKSSKEIEV QMKKIQKLQD AITISKGKIM IHSRESEDEN RYIRNDKELV
310 320 330 340 350
LVQLRKLKAQ RTQARAASQK NLVRLTLESN ATLKALRKIV DKGEKILKLA
360 370 380 390 400
EICRKFETEE EKVLPFYSSV LTPKEQEGIQ KNNLEELTEE LTKVMVDYIG
410 420 430 440 450
MENFWKRYNK VKLEQLSLQH RRAQLLDING KLREMLKQYL DGISVSDEVL
460 470 480
SQLNPLFIVN YQSNLLQPLS IRIAHPGDKQ HPTT
Length:484
Mass (Da):57,297
Last modified:March 1, 2004 - v2
Checksum:i8B3E8E676512AAF2
GO
Isoform 2 (identifier: Q8IXS2-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     478-484: DKQHPTT → STSPSAPWRDQRRSFFLGSS

Note: No experimental confirmation available.
Show »
Length:497
Mass (Da):58,740
Checksum:i8FC23EA8D83AA456
GO

Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8VR42F8VR42_HUMAN
Dynein regulatory complex subunit 2
CCDC65
373Annotation score:
F8W0R6F8W0R6_HUMAN
Dynein regulatory complex subunit 2
CCDC65
42Annotation score:

Sequence cautioni

The sequence BAC05324 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti164H → R in BAC04035 (PubMed:14702039).Curated1
Sequence conflicti202N → D in AAK60542 (PubMed:17089017).Curated1
Sequence conflicti242A → T in AAK60542 (PubMed:17089017).Curated1
Sequence conflicti308K → E in BAC05324 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_056780133H → R. Corresponds to variant dbSNP:rs10747556EnsemblClinVar.1
Natural variantiVAR_056781408Y → C. Corresponds to variant dbSNP:rs4760600EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_024644478 – 484DKQHPTT → STSPSAPWRDQRRSFFLGSS in isoform 2. 1 Publication7

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF382188 mRNA Translation: AAK60542.1
AK093051 mRNA Translation: BAC04035.1
AK098529 mRNA Translation: BAC05324.1 Different initiation.
AK314623 mRNA Translation: BAG37189.1
AC073610 Genomic DNA No translation available.
CH471111 Genomic DNA Translation: EAW58020.1
CH471111 Genomic DNA Translation: EAW58021.1
BC039317 mRNA Translation: AAH39317.2
CCDSiCCDS8772.1 [Q8IXS2-1]
RefSeqiNP_149115.2, NM_033124.4 [Q8IXS2-1]
UniGeneiHs.512805

Genome annotation databases

EnsembliENST00000266984; ENSP00000266984; ENSG00000139537 [Q8IXS2-2]
ENST00000320516; ENSP00000312706; ENSG00000139537 [Q8IXS2-1]
GeneIDi85478
KEGGihsa:85478
UCSCiuc001rso.4 human [Q8IXS2-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF382188 mRNA Translation: AAK60542.1
AK093051 mRNA Translation: BAC04035.1
AK098529 mRNA Translation: BAC05324.1 Different initiation.
AK314623 mRNA Translation: BAG37189.1
AC073610 Genomic DNA No translation available.
CH471111 Genomic DNA Translation: EAW58020.1
CH471111 Genomic DNA Translation: EAW58021.1
BC039317 mRNA Translation: AAH39317.2
CCDSiCCDS8772.1 [Q8IXS2-1]
RefSeqiNP_149115.2, NM_033124.4 [Q8IXS2-1]
UniGeneiHs.512805

3D structure databases

ProteinModelPortaliQ8IXS2
SMRiQ8IXS2
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124553, 5 interactors
STRINGi9606.ENSP00000312706

PTM databases

iPTMnetiQ8IXS2
PhosphoSitePlusiQ8IXS2

Polymorphism and mutation databases

BioMutaiCCDC65
DMDMi74728229

Proteomic databases

EPDiQ8IXS2
MaxQBiQ8IXS2
PaxDbiQ8IXS2
PeptideAtlasiQ8IXS2
PRIDEiQ8IXS2
ProteomicsDBi71055
71056 [Q8IXS2-2]

Protocols and materials databases

DNASUi85478
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000266984; ENSP00000266984; ENSG00000139537 [Q8IXS2-2]
ENST00000320516; ENSP00000312706; ENSG00000139537 [Q8IXS2-1]
GeneIDi85478
KEGGihsa:85478
UCSCiuc001rso.4 human [Q8IXS2-1]

Organism-specific databases

CTDi85478
DisGeNETi85478
EuPathDBiHostDB:ENSG00000139537.10
GeneCardsiCCDC65
HGNCiHGNC:29937 CCDC65
HPAiHPA038520
HPA057573
MalaCardsiCCDC65
MIMi611088 gene
615504 phenotype
neXtProtiNX_Q8IXS2
OpenTargetsiENSG00000139537
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA143485417
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IE4Y Eukaryota
ENOG410XQTS LUCA
GeneTreeiENSGT00730000111193
HOGENOMiHOG000059628
HOVERGENiHBG103693
InParanoidiQ8IXS2
OMAiQMKKIQR
OrthoDBiEOG091G0BMS
PhylomeDBiQ8IXS2
TreeFamiTF326074

Miscellaneous databases

GenomeRNAii85478
PROiPR:Q8IXS2
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000139537 Expressed in 121 organ(s), highest expression level in testis
CleanExiHS_CCDC65
ExpressionAtlasiQ8IXS2 baseline and differential
GenevisibleiQ8IXS2 HS

Family and domain databases

InterProiView protein in InterPro
IPR039505 DRC1/2_N
IPR039750 DRC1/DRC2
PANTHERiPTHR21625 PTHR21625, 1 hit
PfamiView protein in Pfam
PF14772 NYD-SP28, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiDRC2_HUMAN
AccessioniPrimary (citable) accession number: Q8IXS2
Secondary accession number(s): A6NJG5
, B2RBE2, Q8N7G4, Q8NA91, Q96JA0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: April 17, 2007
Last sequence update: March 1, 2004
Last modified: November 7, 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. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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