mks1 MKS transition zone complex subunit 1 [Danio rerio (zebrafish)] - Gene

Summary

Official Symbol: mks1provided by ZNC
Official Full Name: MKS transition zone complex subunit 1provided by ZNC
Primary source: ZFIN:ZDB-GENE-030131-3813
See related: Ensembl:ENSDARG00000059657 AllianceGenome:ZFIN:ZDB-GENE-030131-3813
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
Also known as: fc54h05; wu:fc54h05; zgc:153149; si:dkey-189h5.2
Summary: Acts upstream of or within dorsal convergence. Predicted to be located in cytoplasm and cytoskeleton. Predicted to be part of MKS complex. Used to study ciliopathy. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 13; Joubert syndrome 28; and Meckel syndrome 1. Orthologous to human MKS1 (MKS transition zone complex subunit 1). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: human mouse all
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Genomic context

Location:: chromosome: 5

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCz11 (GCF_000002035.6)	5	NC_007116.7 (56090827..56119029, complement)
105	previous assembly	GRCz10 (GCF_000002035.5)	5	NC_007116.6 (55420610..55448812, complement)

Chromosome 5 - NC_007116.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

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?

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General gene information

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Gene Ontology Provided by ZFIN

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within dorsal convergence	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of MKS complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: tectonic-like complex member MKS1

Names: Meckel syndrome, type 1

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_001077373.2 → NP_001070841.2 tectonic-like complex member MKS1

Status: VALIDATED

Source sequence(s)

CR753838

UniProtKB/TrEMBL

A0A8M1NBE0, A3QK09

Related

ENSDARP00000077569.5, ENSDART00000083134.6

Conserved Domains (1) summary

pfam07162
Location:316 → 488

B9-C2; Ciliary basal body-associated, B9 protein