mksr-1 B9 domain-containing protein 1 [Caenorhabditis elegans] - Gene

Summary

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Official Symbol: mksr-1
Official Full Name: B9 domain-containing protein 1
Primary source: WormBase:WBGene00019364
Locus tag: CELE_K03E6.4
See related: AllianceGenome:WB:WBGene00019364
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Caenorhabditis elegans (strain: Bristol N2)
Lineage: Eukaryota; Metazoa; Ecdysozoa; Nematoda; Chromadorea; Rhabditida; Rhabditina; Rhabditomorpha; Rhabditoidea; Rhabditidae; Peloderinae; Caenorhabditis
Summary: Involved in several processes, including determination of adult lifespan; larval foraging behavior; and non-motile cilium assembly. Located in ciliary transition zone. Is expressed in nervous system. Used to study ciliopathy and nephronophthisis. Human ortholog(s) of this gene implicated in Joubert syndrome 27 and Meckel syndrome. Orthologous to human B9D1 (B9 domain containing 1). [provided by Alliance of Genome Resources, Dec 2024]
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Genomic context

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See mksr-1 in Genome Data Viewer

Location:: chromosome: X

Exon count:: 6

Sequence:: Chromosome: X; NC_003284.9 (1066606..1069129, complement)

Chromosome X - NC_003284.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:: NC_003284.9

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MKS-1/xbx-7 and MKS-1-related proteins 1 and 2 (MKSR-1/tza-2, MKSR-2/tza-1), localize to transition zones/basal bodies of sensory cilia; subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins
Title: Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.
The C. elegans B9 proteins form a complex that localizes to the base of cilia. Mutations in the B9 genes do not overtly affect cilia formation unless they are in combination with a mutation in nph-1 or nph-4.
Title: Functional redundancy of the B9 proteins and nephrocystins in Caenorhabditis elegans ciliogenesis.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

K03E6.4 (e-PCR)
- UniSTS:320101

Homology

Orthologs from OrthoDB

Gene Ontology Provided by WormBase

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell projection organization	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in determination of adult lifespan	IGI Inferred from Genetic Interaction more info	PubMed
involved_in larval foraging behavior	IGI Inferred from Genetic Interaction more info	PubMed
involved_in non-motile cilium assembly	IGI Inferred from Genetic Interaction more info	PubMed
involved_in protein localization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein localization to ciliary transition zone	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 ciliary transition zone	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IEA Inferred from Electronic Annotation 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: B9 domain-containing protein 1

NP_508203.1

Confirmed by transcript evidence

NCBI Reference Sequences (RefSeq)

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Genome Annotation

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

Reference assembly

Genomic

NC_003284.9 Reference assembly

Range

1066606..1069129 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_075802.3 → NP_508203.1 B9 domain-containing protein 1 [Caenorhabditis elegans]

See identical proteins and their annotated locations for NP_508203.1

Status: REVIEWED

UniProtKB/TrEMBL

Q21191

Conserved Domains (1) summary

pfam07162
Location:15 → 169

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