Bbs1 Bardet-Biedl syndrome 1 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Bbs1provided by RGD
Official Full Name: Bardet-Biedl syndrome 1provided by RGD
Primary source: RGD:1307581
See related: EnsemblRapid:ENSRNOG00000019832 AllianceGenome:RGD:1307581
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable RNA polymerase II-specific DNA-binding transcription factor binding activity; phosphoprotein binding activity; and signaling receptor binding activity. Predicted to be involved in several processes, including non-motile cilium assembly; photoreceptor cell maintenance; and regulation of cilium beat frequency involved in ciliary motility. Predicted to act upstream of or within several processes, including Golgi to plasma membrane protein transport; nervous system development; and olfactory behavior. Predicted to be located in centriolar satellite; ciliary membrane; and motile cilium. Predicted to be part of BBSome. Predicted to be active in axoneme and centrosome. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1. Orthologous to human BBS1 (Bardet-Biedl syndrome 1). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Testes (RPKM 98.5), Kidney (RPKM 45.8) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1q43

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (211614195..211633504, complement)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (202184812..202204118, complement)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (220146084..220165545, complement)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

General gene information

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Markers

RH129849 (e-PCR)
- UniSTS:213137

RH140927 (e-PCR)
- UniSTS:222939

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables RNA polymerase II-specific DNA-binding transcription factor binding	ISO Inferred from Sequence Orthology more info
enables patched binding	IBA Inferred from Biological aspect of Ancestor more info
enables patched binding	ISO Inferred from Sequence Orthology more info
enables phosphoprotein binding	ISO Inferred from Sequence Orthology more info
enables signaling receptor binding	ISO Inferred from Sequence Orthology more info
enables smoothened binding	IBA Inferred from Biological aspect of Ancestor more info
enables smoothened binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Golgi to plasma membrane protein transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within adult behavior	ISO Inferred from Sequence Orthology more info
involved_in biological_process	ND No biological Data available more info
acts_upstream_of_or_within brain morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cartilage development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cerebral cortex development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within dendrite development	ISO Inferred from Sequence Orthology more info
involved_in fat cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within fertilization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hippocampus development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hormone metabolic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within microtubule cytoskeleton organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neural precursor cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within neuron migration	ISO Inferred from Sequence Orthology more info
involved_in non-motile cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in non-motile cilium assembly	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within olfactory behavior	ISO Inferred from Sequence Orthology more info
involved_in photoreceptor cell maintenance	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within photoreceptor cell morphogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein localization	ISO Inferred from Sequence Orthology more info
involved_in protein localization to cilium	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein localization to cilium	ISO Inferred from Sequence Orthology more info
involved_in regulation of cilium beat frequency involved in ciliary motility	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to endoplasmic reticulum stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within retina development in camera-type eye	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within retina homeostasis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sensory perception of smell	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within striatum development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ventricular system development	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of BBSome	IBA Inferred from Biological aspect of Ancestor more info
part_of BBSome	ISO Inferred from Sequence Orthology more info
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in ciliary membrane	ISO Inferred from Sequence Orthology more info
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in motile cilium	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: Bardet-Biedl syndrome 1 protein

Names: Bardet-Biedl syndrome 1 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001107569.1 → NP_001101039.1 Bardet-Biedl syndrome 1 protein

See identical proteins and their annotated locations for NP_001101039.1

Status: PROVISIONAL

Source sequence(s)

CH473953

UniProtKB/TrEMBL

A0A8I5ZVJ8, A6HZ05, D4A4U2

Related

ENSRNOP00000082124.2, ENSRNOT00000111822.2

Conserved Domains (1) summary

pfam14779
Location:24 → 277

BBS1; Ciliary BBSome complex subunit 1

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCr8

Genomic

NC_086019.1 Reference GRCr8

Range

211614195..211633504 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_008760137.4 → XP_008758359.1 Bardet-Biedl syndrome 1 protein isoform X2

UniProtKB/TrEMBL

A0A8I5ZVJ8, A0A8I6A032

Related

ENSRNOP00000085404.1, ENSRNOT00000097583.2

Conserved Domains (1) summary

pfam14779
Location:24 → 277

BBS1; Ciliary BBSome complex subunit 1
XM_039079420.2 → XP_038935348.1 Bardet-Biedl syndrome 1 protein isoform X1

UniProtKB/TrEMBL

A0A8I5ZVJ8

Conserved Domains (1) summary

pfam14779
Location:1 → 246

BBS1; Ciliary BBSome complex subunit 1