bbs12 Bardet-Biedl syndrome 12 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: bbs12provided by ZNC
Official Full Name: Bardet-Biedl syndrome 12provided by ZNC
Primary source: ZFIN:ZDB-GENE-070626-3
See related: Ensembl:ENSDARG00000016112 AllianceGenome:ZFIN:ZDB-GENE-070626-3
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Summary: Predicted to enable ATP binding activity. Acts upstream of or within convergent extension involved in gastrulation. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome 12. Orthologous to human BBS12 (Bardet-Biedl syndrome 12). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 14

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	14	NC_007125.7 (1310268..1362897)
105	previous assembly	GRCz10 (GCF_000002035.5)	14	NC_007125.6 (1338071..1349778)

Chromosome 14 - NC_007125.7 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: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
BioProject: PRJEB1986
Analysis date: Fri Dec 8 19:48:10 2017

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 ZFIN

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in chaperone-mediated protein complex assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within chaperone-mediated protein complex assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within convergent extension involved in gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in photoreceptor cell maintenance	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: Bardet-Biedl syndrome 12 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_001386299.1 → NP_001373228.1 Bardet-Biedl syndrome 12 protein

Status: VALIDATED

Source sequence(s)

CU896540

UniProtKB/TrEMBL

A0A2R8RT44, A0A8M1RS42

Related

ENSDARP00000152249.1, ENSDART00000188008.1

Conserved Domains (1) summary

pfam00118
Location:33 → 147

Cpn60_TCP1; TCP-1/cpn60 chaperonin family

RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

Reference GRCz11 Primary Assembly

Genomic

NC_007125.7 Reference GRCz11 Primary Assembly

Range

1310268..1362897

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_068213237.1 → XP_068069338.1 Bardet-Biedl syndrome 12 protein isoform X3
XM_068213236.1 → XP_068069337.1 Bardet-Biedl syndrome 12 protein isoform X2

Related

ENSDARP00000012805.8, ENSDART00000007091.8
XM_021481081.2 → XP_021336756.1 Bardet-Biedl syndrome 12 protein isoform X1

UniProtKB/TrEMBL

A0A8M9QKQ4

Conserved Domains (1) summary

cl02777
Location:33 → 146

chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...