UniProtKB - A2RUB6 (CCD66_HUMAN)
Protein
Coiled-coil domain-containing protein 66
Gene
CCDC66
Organism
Homo sapiens (Human)
Status
Functioni
Microtubule-binding protein required for ciliogenesis (PubMed:28235840). May function in ciliogenesis by mediating the transport of proteins like BBS4 to the cilium, but also through the organization of the centriolar satellites (PubMed:28235840). Plays a role in retina morphogenesis and/or homeostasis (By similarity).By similarity1 Publication
GO - Molecular functioni
- microtubule binding Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
GO - Biological processi
- cilium assembly Source: UniProtKB
- detection of light stimulus involved in visual perception Source: Ensembl
- microtubule bundle formation Source: UniProtKB
- regulation of protein localization to cilium Source: UniProtKB
- retina homeostasis Source: UniProtKB
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
PathwayCommonsi | A2RUB6 |
Names & Taxonomyi
Protein namesi | Recommended name: Coiled-coil domain-containing protein 66Curated |
Gene namesi | Name:CCDC66Imported |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:27709, CCDC66 |
neXtProti | NX_A2RUB6 |
VEuPathDBi | HostDB:ENSG00000180376.16 |
Subcellular locationi
Cytoskeleton
- centrosome 1 Publication
- centriolar satellite 1 Publication
- cilium basal body 1 Publication
Other locations
- cilium 1 Publication
- Photoreceptor inner segment 1 Publication
- photoreceptor outer segment 1 Publication
Note: Restricted to the centrosomes and the spindle microtubules during mitosis (PubMed:28235840). Enriched in the inner segment of the photoreceptor (PubMed:19777273).2 Publications
Cytoskeleton
- centriolar satellite Source: UniProtKB
- centrosome Source: UniProtKB
- ciliary basal body Source: UniProtKB
- microtubule Source: UniProtKB
Cytosol
- cytosol Source: HPA
Other locations
- cell junction Source: HPA
- cilium Source: UniProtKB
- Flemming body Source: HPA
- photoreceptor inner segment Source: UniProtKB
- photoreceptor outer segment Source: UniProtKB-SubCell
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, CytoskeletonPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 208 – 948 | Missing : Loss of association with microtubules and localization to centrosomes. 1 PublicationAdd BLAST | 741 |
Organism-specific databases
DisGeNETi | 285331 |
OpenTargetsi | ENSG00000180376 |
PharmGKBi | PA143485418 |
Miscellaneous databases
Pharosi | A2RUB6, Tdark |
Genetic variation databases
BioMutai | CCDC66 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000320037 | 1 – 948 | Coiled-coil domain-containing protein 66Add BLAST | 948 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 115 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 121 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 369 | PhosphoserineBy similarity | 1 | |
Modified residuei | 606 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
Disulfide bond, PhosphoproteinProteomic databases
EPDi | A2RUB6 |
jPOSTi | A2RUB6 |
MassIVEi | A2RUB6 |
MaxQBi | A2RUB6 |
PaxDbi | A2RUB6 |
PeptideAtlasi | A2RUB6 |
PRIDEi | A2RUB6 |
ProteomicsDBi | 507 [A2RUB6-1] 508 [A2RUB6-2] 509 [A2RUB6-3] 510 [A2RUB6-4] |
TopDownProteomicsi | A2RUB6-4 [A2RUB6-4] |
PTM databases
iPTMneti | A2RUB6 |
PhosphoSitePlusi | A2RUB6 |
Expressioni
Tissue specificityi
Widely expressed (at protein level) (PubMed:28235840). Expressed in retina, mainly in photoreceptors but also in outer plexiform and ganglion cell layers (at protein level) (PubMed:19777273).2 Publications
Gene expression databases
Bgeei | ENSG00000180376, Expressed in sural nerve and 193 other tissues |
ExpressionAtlasi | A2RUB6, baseline and differential |
Genevisiblei | A2RUB6, HS |
Organism-specific databases
HPAi | ENSG00000180376, Low tissue specificity |
Interactioni
Subunit structurei
GO - Molecular functioni
- microtubule binding Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 130082, 20 interactors |
IntActi | A2RUB6, 16 interactors |
STRINGi | 9606.ENSP00000378167 |
Miscellaneous databases
RNActi | A2RUB6, protein |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 467 – 558 | Sequence analysisAdd BLAST | 92 |
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502R1PQ, Eukaryota |
GeneTreei | ENSGT00390000012411 |
HOGENOMi | CLU_016964_0_0_1 |
InParanoidi | A2RUB6 |
OMAi | KNSNYER |
OrthoDBi | 1468611at2759 |
PhylomeDBi | A2RUB6 |
TreeFami | TF350489 |
Family and domain databases
InterProi | View protein in InterPro IPR039183, CCD66 IPR040467, CCDC66_dom |
PANTHERi | PTHR22736, PTHR22736, 1 hit |
Pfami | View protein in Pfam PF15236, CCDC66, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 5 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: A2RUB6-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MNLGDGLKLE TELLDGKTKL ILSPYEHKSK ISVKMGNKAK IAKCPLRTKT
60 70 80 90 100
GHILKSTQDT CIGSEKLLQK KPVGSETSQA KGEKNGMTFS STKDLCKQCI
110 120 130 140 150
DKDCLHIQKE ISPATPNMQK TRNTVNTSLV GKQKPHKKHI TAENMKSSLV
160 170 180 190 200
CLTQDQLQQI LMTVNQGNRS LSLTENGKEA KSQYSLYLNS ISNQPKDENI
210 220 230 240 250
MGLFKKTEMV SSVPAENKSV LNEHQETSKQ CEQKIAIENE WKPADIFSTL
260 270 280 290 300
GERECDRSSL EAKKAQWRKE LDEQVALKKK EKEVSEKWND PWKKSESDKI
310 320 330 340 350
IWEKHQILDQ SRETVLLEHP FSAVKQELQR KWIEELNKQI EDDRQRKIEE
360 370 380 390 400
KIIYSKGEEH DRWAMHFDSL KSYPGSQSQL FSQSTHKQPE YFCVSPDTQE
410 420 430 440 450
LADVSSVCTP TTGSQVEPSE EEHIAKPIKD VVMANSKKTN FLRSMTALLD
460 470 480 490 500
PAQIEERDRR RQKQLEHQKA ITAQVEEKRR KKQLEEEQRK KEEQEEELRL
510 520 530 540 550
AQEREEMQKQ YEEDILKQKQ KEEIMTLKTN ELFQTMQRAQ ELAQRLKQEQ
560 570 580 590 600
RIRELAQKGH DTSRLIKNLG VDTIQMEYNA SNISNSRHDS DEISGKMNTY
610 620 630 640 650
MNSTTSKKDT GVQTDDLNIG IFTNAESHCG SLMERDITNC SSPEISAELI
660 670 680 690 700
GQFSTKKNKQ ELTQDKGASL EKENNRCNDQ CNQFTRIEKQ TKHMKKYPKR
710 720 730 740 750
PDWNINKPPK RYIPASEKYP KQLQKQREEK KVRRQMELLH LVEKNNPGHL
760 770 780 790 800
SQNRGISPEI FHSSHQETES KLRWHLVKKE EEPLNIHSFS KERSPSSPVP
810 820 830 840 850
VVKNRTQQTQ NTLHLPLKNS SYERENLISG SNQTELSSGI SESSHFIPYV
860 870 880 890 900
RTNEIYYLDP DAPLSGPSTQ DPQYQNSQDC GQKRQLFDSD CVRDPLLNPN
910 920 930 940
MVKNRDRQQA ILKGLSELRQ GLLQKQKELE SSLLPLAENQ EESFGSSF
Computationally mapped potential isoform sequencesi
There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketC9JYB8 | C9JYB8_HUMAN | Coiled-coil domain-containing prote... | CCDC66 | 633 | Annotation score: | ||
F8WDJ0 | F8WDJ0_HUMAN | Coiled-coil domain-containing prote... | CCDC66 | 287 | Annotation score: | ||
F8WCY0 | F8WCY0_HUMAN | Coiled-coil domain-containing prote... | CCDC66 | 230 | Annotation score: | ||
F2Z2K6 | F2Z2K6_HUMAN | Coiled-coil domain-containing prote... | CCDC66 | 60 | Annotation score: | ||
F8WB87 | F8WB87_HUMAN | Coiled-coil domain-containing prote... | CCDC66 | 38 | Annotation score: |
Sequence cautioni
The sequence AAH47509 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence AAI32828 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated
The sequence BAC04607 differs from that shown. Reason: Frameshift.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 104 | C → Y in BAC04607 (PubMed:14702039).Curated | 1 | |
Sequence conflicti | 605 | T → TS in AAI32828 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_039111 | 383 | Q → R2 PublicationsCorresponds to variant dbSNP:rs1491170Ensembl. | 1 | |
Natural variantiVAR_039112 | 460 | R → Q2 PublicationsCorresponds to variant dbSNP:rs7637449Ensembl. | 1 | |
Natural variantiVAR_039113 | 592 | E → K. Corresponds to variant dbSNP:rs4681904Ensembl. | 1 | |
Natural variantiVAR_080466 | 592 | E → Q1 PublicationCorresponds to variant dbSNP:rs4681904Ensembl. | 1 | |
Natural variantiVAR_080467 | 681 | C → Y1 PublicationCorresponds to variant dbSNP:rs758090911Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_036545 | 1 – 34 | Missing in isoform 3 and isoform 4. 2 PublicationsAdd BLAST | 34 | |
Alternative sequenceiVSP_036546 | 231 – 948 | Missing in isoform 4. 1 PublicationAdd BLAST | 718 | |
Alternative sequenceiVSP_031586 | 272 – 287 | DEQVA…EVSEK → VLQTVQAWYQHLLGFW in isoform 2. 1 PublicationAdd BLAST | 16 | |
Alternative sequenceiVSP_031587 | 288 – 948 | Missing in isoform 2. 1 PublicationAdd BLAST | 661 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK095688 mRNA Translation: BAC04607.1 Frameshift. AK125303 mRNA Translation: BAG54180.1 AC098478 Genomic DNA No translation available. AC099781 Genomic DNA No translation available. BC047509 mRNA Translation: AAH47509.1 Different initiation. BC132827 mRNA Translation: AAI32828.2 Different initiation. |
CCDSi | CCDS33770.2 [A2RUB6-3] CCDS46852.1 [A2RUB6-1] |
RefSeqi | NP_001012524.4, NM_001012506.4 [A2RUB6-3] NP_001135419.1, NM_001141947.1 [A2RUB6-1] XP_016861723.1, XM_017006234.1 XP_016861724.1, XM_017006235.1 |
Genome annotation databases
Ensembli | ENST00000326595; ENSP00000326050; ENSG00000180376 [A2RUB6-3] ENST00000394672; ENSP00000378167; ENSG00000180376 [A2RUB6-1] |
GeneIDi | 285331 |
KEGGi | hsa:285331 |
UCSCi | uc003dhu.4, human [A2RUB6-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK095688 mRNA Translation: BAC04607.1 Frameshift. AK125303 mRNA Translation: BAG54180.1 AC098478 Genomic DNA No translation available. AC099781 Genomic DNA No translation available. BC047509 mRNA Translation: AAH47509.1 Different initiation. BC132827 mRNA Translation: AAI32828.2 Different initiation. |
CCDSi | CCDS33770.2 [A2RUB6-3] CCDS46852.1 [A2RUB6-1] |
RefSeqi | NP_001012524.4, NM_001012506.4 [A2RUB6-3] NP_001135419.1, NM_001141947.1 [A2RUB6-1] XP_016861723.1, XM_017006234.1 XP_016861724.1, XM_017006235.1 |
3D structure databases
SMRi | A2RUB6 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 130082, 20 interactors |
IntActi | A2RUB6, 16 interactors |
STRINGi | 9606.ENSP00000378167 |
PTM databases
iPTMneti | A2RUB6 |
PhosphoSitePlusi | A2RUB6 |
Genetic variation databases
BioMutai | CCDC66 |
Proteomic databases
EPDi | A2RUB6 |
jPOSTi | A2RUB6 |
MassIVEi | A2RUB6 |
MaxQBi | A2RUB6 |
PaxDbi | A2RUB6 |
PeptideAtlasi | A2RUB6 |
PRIDEi | A2RUB6 |
ProteomicsDBi | 507 [A2RUB6-1] 508 [A2RUB6-2] 509 [A2RUB6-3] 510 [A2RUB6-4] |
TopDownProteomicsi | A2RUB6-4 [A2RUB6-4] |
Protocols and materials databases
Antibodypediai | 31476, 99 antibodies |
DNASUi | 285331 |
Genome annotation databases
Ensembli | ENST00000326595; ENSP00000326050; ENSG00000180376 [A2RUB6-3] ENST00000394672; ENSP00000378167; ENSG00000180376 [A2RUB6-1] |
GeneIDi | 285331 |
KEGGi | hsa:285331 |
UCSCi | uc003dhu.4, human [A2RUB6-1] |
Organism-specific databases
CTDi | 285331 |
DisGeNETi | 285331 |
GeneCardsi | CCDC66 |
HGNCi | HGNC:27709, CCDC66 |
HPAi | ENSG00000180376, Low tissue specificity |
neXtProti | NX_A2RUB6 |
OpenTargetsi | ENSG00000180376 |
PharmGKBi | PA143485418 |
VEuPathDBi | HostDB:ENSG00000180376.16 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502R1PQ, Eukaryota |
GeneTreei | ENSGT00390000012411 |
HOGENOMi | CLU_016964_0_0_1 |
InParanoidi | A2RUB6 |
OMAi | KNSNYER |
OrthoDBi | 1468611at2759 |
PhylomeDBi | A2RUB6 |
TreeFami | TF350489 |
Enzyme and pathway databases
PathwayCommonsi | A2RUB6 |
Miscellaneous databases
BioGRID-ORCSi | 285331, 11 hits in 877 CRISPR screens |
ChiTaRSi | CCDC66, human |
GenomeRNAii | 285331 |
Pharosi | A2RUB6, Tdark |
PROi | PR:A2RUB6 |
RNActi | A2RUB6, protein |
Gene expression databases
Bgeei | ENSG00000180376, Expressed in sural nerve and 193 other tissues |
ExpressionAtlasi | A2RUB6, baseline and differential |
Genevisiblei | A2RUB6, HS |
Family and domain databases
InterProi | View protein in InterPro IPR039183, CCD66 IPR040467, CCDC66_dom |
PANTHERi | PTHR22736, PTHR22736, 1 hit |
Pfami | View protein in Pfam PF15236, CCDC66, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CCD66_HUMAN | |
Accessioni | A2RUB6Primary (citable) accession number: A2RUB6 Secondary accession number(s): B3KWL8, Q4VC34, Q8N949 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 26, 2008 |
Last sequence update: | March 3, 2009 | |
Last modified: | February 10, 2021 | |
This is version 105 of the entry and version 4 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human variants curated from literature reports
Index of human variants curated from literature reports - Human chromosome 3
Human chromosome 3: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants