mkks MKKS centrosomal shuttling protein [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: mkksprovided by ZNC
Official Full Name: MKKS centrosomal shuttling proteinprovided by ZNC
Primary source: ZFIN:ZDB-GENE-040426-757
See related: Ensembl:ENSDARG00000016139 AllianceGenome:ZFIN:ZDB-GENE-040426-757
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Danio rerio
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
Also known as: bbs6; zgc:55608
Summary: Predicted to enable ATP binding activity and unfolded protein binding activity. Acts upstream of or within several processes, including embryonic morphogenesis; establishment of pigment granule localization; and sensory organ development. Located in cytoplasm and nucleus. Used to study ciliopathy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 6; McKusick-Kaufman syndrome; congenital heart disease; and obesity. Orthologous to human MKKS (MKKS centrosomal shuttling protein). [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 13

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
106	current	GRCz11 (GCF_000002035.6)	13	NC_007124.7 (35472803..35482012)
105	previous assembly	GRCz10 (GCF_000002035.5)	13	NC_007124.6 (35346955..35356161)

Chromosome 13 - NC_007124.7 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: 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?

We demonstrate that through this interaction, BBS6 modulates the sub-cellular localization of SMARCC1 and find, by transcriptional profiling, similar transcriptional changes following smarcc1a and bbs6 manipulation. Our work identifies a new function for BBS6 in nuclear-cytoplasmic transport, and provides insight into the disease mechanism underlying the congenital heart defects in McKusick-Kaufman syndrome patients.
Title: Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.

Submit: New GeneRIF Correction

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

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
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables unfolded protein binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within Kupffer's vesicle development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within Kupffer's vesicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in chaperone-mediated protein complex assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cilium assembly	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within convergent extension	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within convergent extension	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within convergent extension involved in gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in developmental process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within gastrulation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart looping	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in intracellular transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within intracellular transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within melanosome transport	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within melanosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in melanosome transport	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pigment granule aggregation in cell center	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein folding	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in kinociliary basal body	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

Names: Bardet-Biedl syndrome 6; McKusick-Kaufman syndrome

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_200165.1 → NP_956459.1 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin

See identical proteins and their annotated locations for NP_956459.1

Status: PROVISIONAL

Source sequence(s)

BC045401

UniProtKB/TrEMBL

Q7ZVV0

Related

ENSDARP00000024495.5, ENSDART00000011583.6

Conserved Domains (2) summary

pfam00118
Location:29 → 562

Cpn60_TCP1; TCP-1/cpn60 chaperonin family

cl02777
Location:23 → 559

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 ...

RefSeqs of Annotated Genomes: Danio rerio Annotation Release 106 details...

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

Reference GRCz11 Primary Assembly

Genomic

NC_007124.7 Reference GRCz11 Primary Assembly

Range

35472803..35482012

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_021480540.1 → XP_021336215.1 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin isoform X1

UniProtKB/TrEMBL

A0A8M9QNB5

Conserved Domains (1) summary

pfam00118
Location:29 → 565

Cpn60_TCP1; TCP-1/cpn60 chaperonin family
XM_021480541.1 → XP_021336216.1 McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin isoform X2

UniProtKB/TrEMBL

A0A8M9QJK7, F1QCQ8

Related

ENSDARP00000151870.1, ENSDART00000181927.1

Conserved Domains (1) summary

pfam00118
Location:29 → 562

Cpn60_TCP1; TCP-1/cpn60 chaperonin family