Bbs5 Bardet-Biedl syndrome 5 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Bbs5provided by RGD
Official Full Name: Bardet-Biedl syndrome 5provided by RGD
Primary source: RGD:1310718
See related: Ensembl:ENSRNOG00000007127 AllianceGenome:RGD:1310718
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 and phosphatidylinositol-3-phosphate binding activity. Predicted to be involved in cilium assembly and intracellular transport. Predicted to be located in axoneme and centriolar satellite. Predicted to be part of BBSome. Predicted to be active in ciliary basal body. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 5. Orthologous to human BBS5 (Bardet-Biedl syndrome 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Kidney (RPKM 66.3), Brain (RPKM 63.8) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 3q21

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	3	NC_086021.1 (74818104..74839658)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	3	NC_051338.1 (54410429..54431831)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	3	NC_005102.4 (55886695..55907717)

Chromosome 3 - NC_086021.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

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General gene information

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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 phosphatidylinositol-3-phosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-3-phosphate binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in biological_process	ND No biological Data available more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein transport	IEA Inferred from Electronic Annotation 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
located_in axoneme	ISO Inferred from Sequence Orthology more info
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
located_in ciliary basal body	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

General protein information

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Preferred Names: Bardet-Biedl syndrome 5 protein

Names: Bardet-Biedl syndrome 5 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_001108583.2 → NP_001102053.1 Bardet-Biedl syndrome 5 protein

See identical proteins and their annotated locations for NP_001102053.1

Status: PROVISIONAL

Source sequence(s)

BC167024

UniProtKB/TrEMBL

A0A8I6GGA2, A6HM08, B2RZ48, F7FFN7

Related

ENSRNOP00000009396.4, ENSRNOT00000009396.6

Conserved Domains (1) summary

pfam07289
Location:7 → 339

BBL5; Bardet-Biedl syndrome 5 protein

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_086021.1 Reference GRCr8

Range

74818104..74839658

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_039105400.2 → XP_038961328.2 Bardet-Biedl syndrome 5 protein isoform X1

UniProtKB/TrEMBL

A0A8I6GGA2
XM_039105402.2 → XP_038961330.2 Bardet-Biedl syndrome 5 protein isoform X2

UniProtKB/TrEMBL

A0A8I6GGA2
XM_039105406.2 → XP_038961334.1 Bardet-Biedl syndrome 5 protein isoform X4

Conserved Domains (1) summary

pfam07289
Location:4 → 169

BBL5; Bardet-Biedl syndrome 5 protein
XM_039105404.2 → XP_038961332.1 Bardet-Biedl syndrome 5 protein isoform X3

UniProtKB/TrEMBL

A0A8I5ZQX5, A0A8I6GGA2

Related

ENSRNOP00000081100.1

Conserved Domains (1) summary

pfam07289
Location:7 → 317

BBL5; Bardet-Biedl syndrome 5 protein