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Protein

B9 domain-containing protein 1

Gene

B9d1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 processCilium biogenesis/degradation

Enzyme and pathway databases

ReactomeiR-MMU-5620912 Anchoring of the basal body to the plasma membrane

Names & Taxonomyi

Protein namesi
Recommended name:
B9 domain-containing protein 1
Alternative name(s):
Endothelial precursor cells protein B9
Gene namesi
Name:B9d1
Synonyms:Eppb9
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 11

Organism-specific databases

MGIiMGI:1351471 B9d1

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

Pathology & 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 keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003076681 – 204B9 domain-containing protein 1Add BLAST204

Proteomic databases

MaxQBiQ9R1S0
PaxDbiQ9R1S0
PRIDEiQ9R1S0

PTM databases

iPTMnetiQ9R1S0
PhosphoSitePlusiQ9R1S0

Expressioni

Developmental stagei

Specifically or prominently expressed in mouse blastocysts compared to 4-cell stage embryos.1 Publication

Gene expression databases

BgeeiENSMUSG00000001039
CleanExiMM_B9D1
ExpressionAtlasiQ9R1S0 baseline and differential
GenevisibleiQ9R1S0 MM

Interactioni

Subunit structurei

Part of the tectonic-like complex (also named B9 complex).3 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi2051182 interactors.
CORUMiQ9R1S0
IntActiQ9R1S0 79 interactors.
STRINGi10090.ENSMUSP00000099717

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini9 – 127B9PROSITE-ProRule annotationAdd BLAST119

Sequence similaritiesi

Belongs to the B9D family.Curated

Phylogenomic databases

eggNOGiKOG4027 Eukaryota
ENOG410XP62 LUCA
GeneTreeiENSGT00530000063756
HOGENOMiHOG000038832
HOVERGENiHBG104431
InParanoidiQ9R1S0
KOiK16744
OMAiGHFNEPI
OrthoDBiEOG091G0BGX
PhylomeDBiQ9R1S0
TreeFamiTF314883

Family and domain databases

InterProiView protein in InterPro
IPR010796 B9_dom
PANTHERiPTHR12968 PTHR12968, 1 hit
PfamiView protein in Pfam
PF07162 B9-C2, 1 hit
PROSITEiView protein in PROSITE
PS51381 B9, 1 hit

Sequencei

Sequence statusi: Complete.

Q9R1S0-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:204
Mass (Da):22,592
Last modified:May 1, 2000 - v1
Checksum:iC2C65AE39A65DB95
GO

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
CCDSiCCDS24815.1
RefSeqiNP_001317709.1, NM_001330780.1
NP_001317710.1, NM_001330781.1
NP_038745.1, NM_013717.3
UniGeneiMm.261226

Genome annotation databases

EnsembliENSMUST00000102657; ENSMUSP00000099717; ENSMUSG00000001039
GeneIDi27078
KEGGimmu:27078
UCSCiuc007jhu.1 mouse

Similar proteinsi

Entry informationi

Entry nameiB9D1_MOUSE
AccessioniPrimary (citable) accession number: Q9R1S0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 1, 2000
Last modified: April 25, 2018
This is version 108 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome