Bbs1 | ENSMUSG00000006464 | NCBI 52028

Details for: Bbs1

Gene ID: 52028

Symbol: Bbs1

Ensembl ID: ENSMUSG00000006464

Description: Bardet-Biedl syndrome 1

Associated with

Bbsome-mediated cargo-targeting to cilium
(R-MMU-5620922)
Cargo trafficking to the periciliary membrane
(R-MMU-5620920)
Organelle biogenesis and maintenance
(R-MMU-1852241)
Adult behavior
(GO:0030534)
Axoneme
(GO:0005930)
Bbsome
(GO:0034464)
Brain morphogenesis
(GO:0048854)
Cartilage development
(GO:0051216)
Cellular lipid metabolic process
(GO:0044255)
Centriolar satellite
(GO:0034451)
Centrosome
(GO:0005813)
Cerebral cortex development
(GO:0021987)
Ciliary basal body
(GO:0036064)
Ciliary membrane
(GO:0060170)
Cilium
(GO:0005929)
Cilium assembly
(GO:0060271)
Cytoplasm
(GO:0005737)
Dendrite development
(GO:0016358)
Fat cell differentiation
(GO:0045444)
Fertilization
(GO:0009566)
Golgi to plasma membrane protein transport
(GO:0043001)
Hippocampus development
(GO:0021766)
Hormone metabolic process
(GO:0042445)
Intraciliary retrograde transport
(GO:0035721)
Microtubule cytoskeleton organization
(GO:0000226)
Motile cilium
(GO:0031514)
Neural precursor cell proliferation
(GO:0061351)
Neuron migration
(GO:0001764)
Non-motile cilium assembly
(GO:1905515)
Olfactory behavior
(GO:0042048)
Patched binding
(GO:0005113)
Phosphoprotein binding
(GO:0051219)
Photoreceptor cell maintenance
(GO:0045494)
Photoreceptor cell morphogenesis
(GO:0008594)
Protein binding
(GO:0005515)
Protein localization
(GO:0008104)
Protein localization to cilium
(GO:0061512)
Regulation of cilium beat frequency involved in ciliary motility
(GO:0060296)
Response to endoplasmic reticulum stress
(GO:0034976)
Retina development in camera-type eye
(GO:0060041)
Retina homeostasis
(GO:0001895)
Rna polymerase ii-specific dna-binding transcription factor binding
(GO:0061629)
Sensory perception of smell
(GO:0007608)
Signaling receptor binding
(GO:0005102)
Smoothened binding
(GO:0005119)
Striatum development
(GO:0021756)
Ventricular system development
(GO:0021591)
Visual perception
(GO:0007601)

Other Information

Proteins

Bardet-Biedl syndrome 1 protein homolog

Genular Protein ID: 2422006920

Symbol: BBS1_MOUSE

Name: Bardet-Biedl syndrome 1 protein homolog

UniProtKB Accession Codes:

Q3V3N7

Database IDs:

Citations:

PubMed ID: 16141072

Title: The transcriptional landscape of the mammalian genome.

PubMed ID: 16141072

DOI: 10.1126/science.1112014

PubMed ID: 19468303

Title: Lineage-specific biology revealed by a finished genome assembly of the mouse.

PubMed ID: 19468303

DOI: 10.1371/journal.pbio.1000112

PubMed ID: 15322545

Title: Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.

PubMed ID: 15322545

DOI: 10.1038/ng1418

PubMed ID: 18032602

Title: A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.

PubMed ID: 18032602

DOI: 10.1073/pnas.0708571104

PubMed ID: 21183079

Title: A tissue-specific atlas of mouse protein phosphorylation and expression.

PubMed ID: 21183079

DOI: 10.1016/j.cell.2010.12.001

PubMed ID: 28237838

Title: Gene therapeutic reversal of peripheral olfactory impairment in Bardet-Biedl syndrome.

PubMed ID: 28237838

DOI: 10.1016/j.ymthe.2017.02.006

Sequence Information:

Length: 593
Mass: 65094
Checksum: 322E9DD4DD554813
Sequence:

MAAASSSDSD SGRAESNEAN SKWLDAHYDP MANIHTFSSC LSLADLHGDG EYKLVVGDLG 
PGGQQPRLKV LKGPTVLTES PLPALPASAA TFLMDQHEPR TPALALASGP CVYVYKNLRP 
YFKFSLPQLP PNPLEQDVWN QAKEDQIDPL TLKEMLEDIR EKADVPLSVQ SLRFLQLELS 
EMEAFVNQHK SKVIKRQTVI TTMTTLKKNL ADEDAASCLV LGTESKELLV LDPEAFTILA 
KMSLPSVPVF LEVSGQFDVE FRLTAACRNG SIYILRRDSK HPKYCIELSA QPVGLVRVHK 
VLVVGSTQES LHGFTHKGKK LWTVQMPAAI LTMNLLEQRS RGLQAVMAAL ANGEVRIYRD 
KALLNVIHAP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK ILKRTAVFVE GTGEVGPPLA 
QTTKLSVPRK TRLYVDQTLR EREAGTAMHR TFQTDLYLLR LRAARAYVQA LESSLSPMST 
TAREPLKLHA VVQGLGPTFK LTLHLQNTST ARPVLGLHVC FLYNKALYAL PQAFFKVPLL 
VPGLSYPLET FVESLSSKGI SDMIKVLVLR EGQSAPLLSA HINMPVSEGL AAA

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: Bbs1

Associated with

Other Information

The transcriptional landscape of the mammalian genome. PubMed ID: 16141072

Lineage-specific biology revealed by a finished genome assembly of the mouse. PubMed ID: 19468303

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse. PubMed ID: 15322545

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity. PubMed ID: 18032602

A tissue-specific atlas of mouse protein phosphorylation and expression. PubMed ID: 21183079