BBS1 Bardet-Biedl syndrome 1 [Pongo abelii (Sumatran orangutan)] - Gene

Summary

Gene symbol: BBS1
Gene description: Bardet-Biedl syndrome 1
Locus tag: CR201_G0031490
See related: Ensembl:ENSPPYG00000003022
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Pongo abelii
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Pongo
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 9

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	NHGRI_mPonAbe1-v2.0_pri (GCF_028885655.2)	9	NC_071994.2 (8122777..8144911, complement)
RS_2023_04	previous assembly	NHGRI_mPonAbe1-v1.1-hic.freeze_pri (GCF_028885655.1)	11	NC_071996.1 (8100431..8121875, complement)

Chromosome 9 - NC_071994.2 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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 RefSeq

Function	Evidence Code	Pubs
enables patched binding	IEA Inferred from Electronic Annotation more info	PubMed
enables smoothened binding	IEA Inferred from Electronic Annotation more info	PubMed

Process	Evidence Code	Pubs
involved_in non-motile cilium assembly	IEA Inferred from Electronic Annotation more info	PubMed
involved_in protein localization to cilium	IEA Inferred from Electronic Annotation more info	PubMed

Component	Evidence Code	Pubs
part_of BBSome	IEA Inferred from Electronic Annotation more info	PubMed
located_in axoneme	IEA Inferred from Electronic Annotation more info	PubMed
located_in centrosome	IEA Inferred from Electronic Annotation more info	PubMed

General protein information

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Preferred Names: Bardet-Biedl syndrome 1 protein

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_001133807.4 → NP_001127279.3 Bardet-Biedl syndrome 1 protein

Status: VALIDATED

Source sequence(s)

JAQQLQ020000009

RefSeqs of Annotated Genomes: GCF_028885655.2-RS_2024_02

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

Reference NHGRI_mPonAbe1-v2.0_pri Primary Assembly

Genomic

NC_071994.2 Reference NHGRI_mPonAbe1-v2.0_pri Primary Assembly

Range

8122777..8144911 complement

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GenBank, FASTA, Sequence Viewer (Graphics)