UniProtKB - Q9R1S0 (B9D1_MOUSE)
Protein
B9 domain-containing protein 1
Gene
B9d1
Organism
Mus musculus (Mouse)
Status
Functioni
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for ciliogenesis and sonic hedgehog/SHH signaling.3 Publications
GO - Molecular functioni
- hedgehog receptor activity Source: UniProtKB
GO - Biological processi
- camera-type eye development Source: MGI
- cilium assembly Source: UniProtKB
- embryonic digit morphogenesis Source: MGI
- in utero embryonic development Source: MGI
- neuroepithelial cell differentiation Source: MGI
- regulation of protein localization Source: MGI
- smoothened signaling pathway Source: UniProtKB
- vasculature development Source: MGI
Keywordsi
Biological process | Cilium biogenesis/degradation |
Enzyme and pathway databases
Reactomei | R-MMU-5620912, Anchoring of the basal body to the plasma membrane |
Names & Taxonomyi
Protein namesi | Recommended name: B9 domain-containing protein 1Alternative name(s): Endothelial precursor cells protein B9 |
Gene namesi | Name:B9d1 Synonyms:Eppb9 |
Organismi | Mus musculus (Mouse) |
Taxonomic identifieri | 10090 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Glires › Rodentia › Myomorpha › Muroidea › Muridae › Murinae › Mus › Mus |
Proteomesi |
|
Organism-specific databases
MGIi | MGI:1351471, B9d1 |
Subcellular locationi
Cytoskeleton
- cilium basal body 2 Publications
Note: Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
Cytoskeleton
- centrosome Source: UniProtKB
- ciliary basal body Source: UniProtKB
Other locations
- ciliary transition zone Source: UniProtKB
- cytoplasm Source: UniProtKB-KW
- membrane Source: MGI
- MKS complex Source: UniProtKB
Keywords - Cellular componenti
Cell projection, Cilium, Cytoplasm, CytoskeletonPathology & Biotechi
Disruption phenotypei
Mice display impaired cilia formation associated with renal cystic dysplasia, as well as ductal plate malformation of the liver and polydactyly. Additional phenotypes, occurring at varying frequencies, include randomized heart looping, holoprosencephaly, microphthalmia, cleft palate, ventricular septal defect and thinning of the myocardial wall. Depending on their genetic background, mutant mice die between 14.5 dpc and P1.2 Publications
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000307668 | 1 – 204 | B9 domain-containing protein 1Add BLAST | 204 |
Proteomic databases
EPDi | Q9R1S0 |
MaxQBi | Q9R1S0 |
PaxDbi | Q9R1S0 |
PRIDEi | Q9R1S0 |
PTM databases
iPTMneti | Q9R1S0 |
PhosphoSitePlusi | Q9R1S0 |
Expressioni
Developmental stagei
Specifically or prominently expressed in mouse blastocysts compared to 4-cell stage embryos.1 Publication
Gene expression databases
Bgeei | ENSMUSG00000001039, Expressed in zygote and 249 other tissues |
ExpressionAtlasi | Q9R1S0, baseline and differential |
Genevisiblei | Q9R1S0, MM |
Interactioni
Subunit structurei
Part of the tectonic-like complex (also named B9 complex).
3 PublicationsBinary interactionsi
Hide detailsProtein-protein interaction databases
BioGRIDi | 205118, 2 interactors |
CORUMi | Q9R1S0 |
IntActi | Q9R1S0, 79 interactors |
STRINGi | 10090.ENSMUSP00000099717 |
Miscellaneous databases
RNActi | Q9R1S0, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 9 – 127 | C2 B9-typePROSITE-ProRule annotationAdd BLAST | 119 |
Sequence similaritiesi
Belongs to the B9D family.Curated
Phylogenomic databases
eggNOGi | KOG4027, Eukaryota |
GeneTreei | ENSGT00940000160079 |
HOGENOMi | CLU_084934_0_0_1 |
InParanoidi | Q9R1S0 |
OMAi | WPQLVVS |
OrthoDBi | 1387644at2759 |
PhylomeDBi | Q9R1S0 |
TreeFami | TF314883 |
Family and domain databases
InterProi | View protein in InterPro IPR010796, B9_dom |
PANTHERi | PTHR12968, PTHR12968, 1 hit |
Pfami | View protein in Pfam PF07162, B9-C2, 1 hit |
PROSITEi | View protein in PROSITE PS51381, C2_B9, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All
Q9R1S0-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAAASPSVFL LMITGQVESA QFPEYDDLYC KYCFVYGQDW APTAGLEEGI
60 70 80 90 100
SQIASKSQDV RQALVWNFPI DVTFKSTNPY GWPQIVLSVY GPDVFGNDVV
110 120 130 140 150
RGYGAVHVPL SPGRHKRTIP MFVPESTSTL QKFTSWFMGR RPEYTDPKVV
160 170 180 190 200
AQGEGREVTR VRSQGFVTLL FNVVTKDMKK LGYDTGPVDT QGVLGPSLPQ
GNPQ
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketQ5NCM9 | Q5NCM9_MOUSE | B9 domain-containing protein 1 | B9d1 | 118 | Annotation score: |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB030483 mRNA Translation: BAA82643.1 AK003038 mRNA Translation: BAB22525.1 AK010355 mRNA Translation: BAB26875.1 AK131701 mRNA Translation: BAE20767.1 AL604029 Genomic DNA No translation available. BC008113 mRNA Translation: AAH08113.1 |
CCDSi | CCDS24815.1 |
RefSeqi | NP_001317709.1, NM_001330780.1 NP_001317710.1, NM_001330781.1 NP_038745.1, NM_013717.3 |
Genome annotation databases
Ensembli | ENSMUST00000102657; ENSMUSP00000099717; ENSMUSG00000001039 |
GeneIDi | 27078 |
KEGGi | mmu:27078 |
UCSCi | uc007jhu.1, mouse |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AB030483 mRNA Translation: BAA82643.1 AK003038 mRNA Translation: BAB22525.1 AK010355 mRNA Translation: BAB26875.1 AK131701 mRNA Translation: BAE20767.1 AL604029 Genomic DNA No translation available. BC008113 mRNA Translation: AAH08113.1 |
CCDSi | CCDS24815.1 |
RefSeqi | NP_001317709.1, NM_001330780.1 NP_001317710.1, NM_001330781.1 NP_038745.1, NM_013717.3 |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
BioGRIDi | 205118, 2 interactors |
CORUMi | Q9R1S0 |
IntActi | Q9R1S0, 79 interactors |
STRINGi | 10090.ENSMUSP00000099717 |
PTM databases
iPTMneti | Q9R1S0 |
PhosphoSitePlusi | Q9R1S0 |
Proteomic databases
EPDi | Q9R1S0 |
MaxQBi | Q9R1S0 |
PaxDbi | Q9R1S0 |
PRIDEi | Q9R1S0 |
Protocols and materials databases
Antibodypediai | 13647, 74 antibodies |
Genome annotation databases
Ensembli | ENSMUST00000102657; ENSMUSP00000099717; ENSMUSG00000001039 |
GeneIDi | 27078 |
KEGGi | mmu:27078 |
UCSCi | uc007jhu.1, mouse |
Organism-specific databases
CTDi | 27077 |
MGIi | MGI:1351471, B9d1 |
Phylogenomic databases
eggNOGi | KOG4027, Eukaryota |
GeneTreei | ENSGT00940000160079 |
HOGENOMi | CLU_084934_0_0_1 |
InParanoidi | Q9R1S0 |
OMAi | WPQLVVS |
OrthoDBi | 1387644at2759 |
PhylomeDBi | Q9R1S0 |
TreeFami | TF314883 |
Enzyme and pathway databases
Reactomei | R-MMU-5620912, Anchoring of the basal body to the plasma membrane |
Miscellaneous databases
BioGRID-ORCSi | 27078, 3 hits in 17 CRISPR screens |
ChiTaRSi | B9d1, mouse |
PROi | PR:Q9R1S0 |
RNActi | Q9R1S0, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSMUSG00000001039, Expressed in zygote and 249 other tissues |
ExpressionAtlasi | Q9R1S0, baseline and differential |
Genevisiblei | Q9R1S0, MM |
Family and domain databases
InterProi | View protein in InterPro IPR010796, B9_dom |
PANTHERi | PTHR12968, PTHR12968, 1 hit |
Pfami | View protein in Pfam PF07162, B9-C2, 1 hit |
PROSITEi | View protein in PROSITE PS51381, C2_B9, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | B9D1_MOUSE | |
Accessioni | Q9R1S0Primary (citable) accession number: Q9R1S0 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 23, 2007 |
Last sequence update: | May 1, 2000 | |
Last modified: | February 10, 2021 | |
This is version 123 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- MGD cross-references
Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families