UniProtKB - Q5VUJ9 (DRC8_HUMAN)
Protein
Dynein regulatory complex protein 8
Gene
EFCAB2
Organism
Homo sapiens (Human)
Status
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
GO - Molecular functioni
- calcium ion binding Source: Ensembl
Enzyme and pathway databases
PathwayCommonsi | Q5VUJ9 |
Names & Taxonomyi
Protein namesi | Recommended name: Dynein regulatory complex protein 8By similarityAlternative name(s): EF-hand calcium-binding domain-containing protein 2 |
Gene namesi | Name:EFCAB2 Synonyms:DRC8By similarity |
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
EuPathDBi | HostDB:ENSG00000203666.12 |
HGNCi | HGNC:28166, EFCAB2 |
neXtProti | NX_Q5VUJ9 |
Subcellular locationi
Cytoskeleton
- flagellum axoneme By similarity
Cytoskeleton
- cytoskeleton Source: UniProtKB-KW
Other locations
- cytoplasm Source: UniProtKB-KW
- sperm principal piece Source: Ensembl
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, Cytoskeleton, FlagellumPathology & Biotechi
Organism-specific databases
DisGeNETi | 84288 |
OpenTargetsi | ENSG00000203666 |
PharmGKBi | PA142671914 |
Miscellaneous databases
Pharosi | Q5VUJ9, Tdark |
Polymorphism and mutation databases
BioMutai | EFCAB2 |
DMDMi | 74756857 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000253544 | 1 – 269 | Dynein regulatory complex protein 8Add BLAST | 269 |
Proteomic databases
EPDi | Q5VUJ9 |
jPOSTi | Q5VUJ9 |
MassIVEi | Q5VUJ9 |
PaxDbi | Q5VUJ9 |
PeptideAtlasi | Q5VUJ9 |
PRIDEi | Q5VUJ9 |
ProteomicsDBi | 65421 [Q5VUJ9-1] 65422 [Q5VUJ9-2] 65423 [Q5VUJ9-3] |
PTM databases
iPTMneti | Q5VUJ9 |
PhosphoSitePlusi | Q5VUJ9 |
Expressioni
Gene expression databases
Bgeei | ENSG00000203666, Expressed in right uterine tube and 220 other tissues |
ExpressionAtlasi | Q5VUJ9, baseline and differential |
Genevisiblei | Q5VUJ9, HS |
Organism-specific databases
HPAi | ENSG00000203666, Low tissue specificity |
Interactioni
Subunit structurei
Component of the nexin-dynein regulatory complex (N-DRC).
By similarityBinary interactionsi
Hide detailsIsoform 2 [Q5VUJ9-2]
Protein-protein interaction databases
BioGRIDi | 124015, 14 interactors |
IntActi | Q5VUJ9, 6 interactors |
STRINGi | 9606.ENSP00000355480 |
Miscellaneous databases
RNActi | Q5VUJ9, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 150 – 185 | EF-hand 1PROSITE-ProRule annotationAdd BLAST | 36 | |
Domaini | 228 – 263 | EF-hand 2PROSITE-ProRule annotationAdd BLAST | 36 |
Sequence similaritiesi
Belongs to the DRC8 family.Curated
Keywords - Domaini
RepeatPhylogenomic databases
eggNOGi | KOG0027, Eukaryota |
GeneTreei | ENSGT00940000160590 |
HOGENOMi | CLU_061288_19_2_1 |
InParanoidi | Q5VUJ9 |
OrthoDBi | 1226331at2759 |
PhylomeDBi | Q5VUJ9 |
TreeFami | TF324069 |
Family and domain databases
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR002048, EF_hand_dom |
SMARTi | View protein in SMART SM00054, EFh, 2 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS50222, EF_HAND_2, 2 hits |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q5VUJ9-1) [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
MLGPGQVRLR PRVWRDKAGG RVADGASGLP PARGSWRETG TGRALGASSP
60 70 80 90 100
PRPAQGSSSP GIQSGPSSRP GSPRGAEQAG TPRPRLSLGI SQATGSAARW
110 120 130 140 150
RTRRTGKGLG YNSDEIRPRT LLIEHLMEGG RRDHHTMTVL WGTQEIIVAE
160 170 180 190 200
FHKKIKEAFE VFDHESNNTV DVREIGTIIR SLGCCPTEGE LHDLIAEVEE
210 220 230 240 250
EEPTGYIRFE KFLPVMTEIL LERKYRPIPE DVLLRAFEVL DSAKRGFLTK
260
DELIKYMTEE DGVSLRRPG
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH7BY53 | H7BY53_HUMAN | Dynein regulatory complex protein 8 | EFCAB2 | 221 | Annotation score: | ||
H0Y588 | H0Y588_HUMAN | Dynein regulatory complex protein 8 | EFCAB2 | 52 | Annotation score: | ||
H0YHT5 | H0YHT5_HUMAN | Dynein regulatory complex protein 8 | EFCAB2 | 131 | Annotation score: | ||
H0Y6F0 | H0Y6F0_HUMAN | Dynein regulatory complex protein 8 | EFCAB2 | 127 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 39 | T → A in AK090927 (PubMed:14702039).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_021055 | 1 – 136 | Missing in isoform 2. 1 PublicationAdd BLAST | 136 | |
Alternative sequenceiVSP_043273 | 1 – 8 | MLGPGQVR → MADEKDRE in isoform 3. 1 Publication | 8 | |
Alternative sequenceiVSP_043274 | 9 – 144 | Missing in isoform 3. 1 PublicationAdd BLAST | 136 | |
Alternative sequenceiVSP_021056 | 137 – 144 | MTVLWGTQ → MADEKDRE in isoform 2. 1 Publication | 8 | |
Alternative sequenceiVSP_021057 | 261 – 269 | DGVSLRRPG → GEPFSQEEMEEMLSAAIDPE SNSINYKDYITMMVIDEN in isoform 2. 1 Publication | 9 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK090927 mRNA No translation available. AK302883 mRNA Translation: BAG64061.1 AL356512 Genomic DNA No translation available. AL589763 Genomic DNA No translation available. BC005357 mRNA Translation: AAH05357.1 AB209286 mRNA Translation: BAD92523.1 |
CCDSi | CCDS31082.1 [Q5VUJ9-2] CCDS44341.1 [Q5VUJ9-3] |
RefSeqi | NP_001137415.1, NM_001143943.1 [Q5VUJ9-3] NP_115704.1, NM_032328.3 [Q5VUJ9-2] |
Genome annotation databases
Ensembli | ENST00000366522; ENSP00000355479; ENSG00000203666 [Q5VUJ9-1] ENST00000366523; ENSP00000355480; ENSG00000203666 [Q5VUJ9-2] ENST00000447569; ENSP00000408661; ENSG00000203666 [Q5VUJ9-3] |
GeneIDi | 84288 |
KEGGi | hsa:84288 |
UCSCi | uc001ibc.3, human [Q5VUJ9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK090927 mRNA No translation available. AK302883 mRNA Translation: BAG64061.1 AL356512 Genomic DNA No translation available. AL589763 Genomic DNA No translation available. BC005357 mRNA Translation: AAH05357.1 AB209286 mRNA Translation: BAD92523.1 |
CCDSi | CCDS31082.1 [Q5VUJ9-2] CCDS44341.1 [Q5VUJ9-3] |
RefSeqi | NP_001137415.1, NM_001143943.1 [Q5VUJ9-3] NP_115704.1, NM_032328.3 [Q5VUJ9-2] |
3D structure databases
SMRi | Q5VUJ9 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 124015, 14 interactors |
IntActi | Q5VUJ9, 6 interactors |
STRINGi | 9606.ENSP00000355480 |
PTM databases
iPTMneti | Q5VUJ9 |
PhosphoSitePlusi | Q5VUJ9 |
Polymorphism and mutation databases
BioMutai | EFCAB2 |
DMDMi | 74756857 |
Proteomic databases
EPDi | Q5VUJ9 |
jPOSTi | Q5VUJ9 |
MassIVEi | Q5VUJ9 |
PaxDbi | Q5VUJ9 |
PeptideAtlasi | Q5VUJ9 |
PRIDEi | Q5VUJ9 |
ProteomicsDBi | 65421 [Q5VUJ9-1] 65422 [Q5VUJ9-2] 65423 [Q5VUJ9-3] |
Protocols and materials databases
Antibodypediai | 34718, 26 antibodies |
Genome annotation databases
Ensembli | ENST00000366522; ENSP00000355479; ENSG00000203666 [Q5VUJ9-1] ENST00000366523; ENSP00000355480; ENSG00000203666 [Q5VUJ9-2] ENST00000447569; ENSP00000408661; ENSG00000203666 [Q5VUJ9-3] |
GeneIDi | 84288 |
KEGGi | hsa:84288 |
UCSCi | uc001ibc.3, human [Q5VUJ9-1] |
Organism-specific databases
CTDi | 84288 |
DisGeNETi | 84288 |
EuPathDBi | HostDB:ENSG00000203666.12 |
GeneCardsi | EFCAB2 |
HGNCi | HGNC:28166, EFCAB2 |
HPAi | ENSG00000203666, Low tissue specificity |
neXtProti | NX_Q5VUJ9 |
OpenTargetsi | ENSG00000203666 |
PharmGKBi | PA142671914 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0027, Eukaryota |
GeneTreei | ENSGT00940000160590 |
HOGENOMi | CLU_061288_19_2_1 |
InParanoidi | Q5VUJ9 |
OrthoDBi | 1226331at2759 |
PhylomeDBi | Q5VUJ9 |
TreeFami | TF324069 |
Enzyme and pathway databases
PathwayCommonsi | Q5VUJ9 |
Miscellaneous databases
BioGRID-ORCSi | 84288, 6 hits in 842 CRISPR screens |
ChiTaRSi | EFCAB2, human |
GenomeRNAii | 84288 |
Pharosi | Q5VUJ9, Tdark |
PROi | PR:Q5VUJ9 |
RNActi | Q5VUJ9, protein |
Gene expression databases
Bgeei | ENSG00000203666, Expressed in right uterine tube and 220 other tissues |
ExpressionAtlasi | Q5VUJ9, baseline and differential |
Genevisiblei | Q5VUJ9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR011992, EF-hand-dom_pair IPR002048, EF_hand_dom |
SMARTi | View protein in SMART SM00054, EFh, 2 hits |
SUPFAMi | SSF47473, SSF47473, 1 hit |
PROSITEi | View protein in PROSITE PS50222, EF_HAND_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DRC8_HUMAN | |
Accessioni | Q5VUJ9Primary (citable) accession number: Q5VUJ9 Secondary accession number(s): B4DZE9, Q59G23, Q9BS36 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 17, 2006 |
Last sequence update: | December 7, 2004 | |
Last modified: | December 2, 2020 | |
This is version 128 of the entry and version 1 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
- SIMILARITY comments
Index of protein domains and families - Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM