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Protein

B9 domain-containing protein 1

Gene

B9d1

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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
  • cilium morphogenesis 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
Complete GO annotation...

Keywords - Biological processi

Cilium 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 11

Organism-specific databases

MGIiMGI:1351471. B9d1.

Subcellular locationi

GO - Cellular componenti

  • centrosome Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • ciliary transition zone Source: UniProtKB
  • cytoplasm Source: UniProtKB-KW
  • membrane Source: MGI
  • TCTN-B9D complex Source: UniProtKB
Complete GO annotation...

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)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 204204B9 domain-containing protein 1PRO_0000307668Add
BLAST

Proteomic databases

MaxQBiQ9R1S0.
PaxDbiQ9R1S0.
PRIDEiQ9R1S0.

PTM databases

PhosphoSiteiQ9R1S0.

Expressioni

Developmental stagei

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

Gene expression databases

BgeeiQ9R1S0.
CleanExiMM_B9D1.
ExpressionAtlasiQ9R1S0. baseline and differential.
GenevisibleiQ9R1S0. MM.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi205118. 2 interactions.
IntActiQ9R1S0. 9 interactions.
STRINGi10090.ENSMUSP00000099717.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini9 – 127119B9PROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Belongs to the B9D family.Curated
Contains 1 B9 domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG4027. Eukaryota.
ENOG410XP62. LUCA.
GeneTreeiENSGT00530000063756.
HOGENOMiHOG000038832.
HOVERGENiHBG104431.
InParanoidiQ9R1S0.
KOiK16744.
OMAiNPSGWPQ.
OrthoDBiEOG78D7M7.
PhylomeDBiQ9R1S0.
TreeFamiTF314883.

Family and domain databases

InterProiIPR010796. B9_dom.
[Graphical view]
PfamiPF07162. B9-C2. 1 hit.
[Graphical view]
PROSITEiPS51381. B9. 1 hit.
[Graphical view]

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. Translation: CAI24186.1.
BC008113 mRNA. Translation: AAH08113.1.
CCDSiCCDS24815.1.
RefSeqiNP_038745.1. NM_013717.2.
UniGeneiMm.261226.

Genome annotation databases

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

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. Translation: CAI24186.1.
BC008113 mRNA. Translation: AAH08113.1.
CCDSiCCDS24815.1.
RefSeqiNP_038745.1. NM_013717.2.
UniGeneiMm.261226.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi205118. 2 interactions.
IntActiQ9R1S0. 9 interactions.
STRINGi10090.ENSMUSP00000099717.

PTM databases

PhosphoSiteiQ9R1S0.

Proteomic databases

MaxQBiQ9R1S0.
PaxDbiQ9R1S0.
PRIDEiQ9R1S0.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

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

Organism-specific databases

CTDi27077.
MGIiMGI:1351471. B9d1.

Phylogenomic databases

eggNOGiKOG4027. Eukaryota.
ENOG410XP62. LUCA.
GeneTreeiENSGT00530000063756.
HOGENOMiHOG000038832.
HOVERGENiHBG104431.
InParanoidiQ9R1S0.
KOiK16744.
OMAiNPSGWPQ.
OrthoDBiEOG78D7M7.
PhylomeDBiQ9R1S0.
TreeFamiTF314883.

Enzyme and pathway databases

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

Miscellaneous databases

NextBioi305035.
PROiQ9R1S0.
SOURCEiSearch...

Gene expression databases

BgeeiQ9R1S0.
CleanExiMM_B9D1.
ExpressionAtlasiQ9R1S0. baseline and differential.
GenevisibleiQ9R1S0. MM.

Family and domain databases

InterProiIPR010796. B9_dom.
[Graphical view]
PfamiPF07162. B9-C2. 1 hit.
[Graphical view]
PROSITEiPS51381. B9. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "A protein isolated from endothelial precursor cells."
    Miyashita H., Sato Y.
    Submitted (JUL-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Endothelial cell.
  2. "The transcriptional landscape of the mammalian genome."
    Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
    , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
    Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Strain: C57BL/6J.
    Tissue: Brain and Testis.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Strain: C57BL/6J.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Strain: FVB/N.
    Tissue: Mammary tumor.
  5. "Identification of differentially expressed genes in murine embryos at the blastocyst stage using annealing control primer system."
    Cui X.S., Shin M.R., Lee K.A., Kim N.H.
    Mol. Reprod. Dev. 70:278-287(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: DEVELOPMENTAL STAGE.
    Tissue: Embryo.
  6. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Kidney and Testis.
  7. Cited for: FUNCTION, DISRUPTION PHENOTYPE, IDENTIFICATION IN A COMPLEX WITH MKS1 AND B9D2.
  8. Cited for: INTERACTION WITH MKS1.
  9. "A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain."
    Chih B., Liu P., Chinn Y., Chalouni C., Komuves L.G., Hass P.E., Sandoval W., Peterson A.S.
    Nat. Cell Biol. 14:61-72(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE TECTONIC-LIKE COMPLEX, FUNCTION, SUBCELLULAR LOCATION, DISRUPTION PHENOTYPE.
  10. Cited for: FUNCTION, SUBCELLULAR LOCATION, IDENTIFICATION IN THE TECTONIC-LIKE COMPLEX.

Entry informationi

Entry nameiB9D1_MOUSE
AccessioniPrimary (citable) accession number: Q9R1S0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 23, 2007
Last sequence update: May 1, 2000
Last modified: November 11, 2015
This is version 94 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. MGD cross-references
    Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
  2. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.