Ofd1 Ofd1 centriole and centriolar satellite protein [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Ofd1provided by RGD
Official Full Name: Ofd1 centriole and centriolar satellite proteinprovided by RGD
Primary source: RGD:1562231
See related: EnsemblRapid:ENSRNOG00000004574 AllianceGenome:RGD:1562231
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Also known as: RGD1562231
Summary: Predicted to enable identical protein binding activity; molecular adaptor activity; and tubulin binding activity. Involved in cilium assembly. Predicted to be located in centriolar satellite; centriole; and cilium. Predicted to be active in centrosome; ciliary basal body; and motile cilium. Biomarker of retinal degeneration. Human ortholog(s) of this gene implicated in Joubert syndrome 10; Simpson-Golabi-Behmel syndrome type 2; orofaciodigital syndrome I; retinitis pigmentosa; and retinitis pigmentosa 23. Orthologous to human OFD1 (OFD1 centriole and centriolar satellite protein). [provided by Alliance of Genome Resources, Dec 2024]
Expression: Biased expression in Thymus (RPKM 78.1), Lung (RPKM 52.0) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: Xq13

Exon count:: 25

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	X	NC_086039.1 (31647000..31687768)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	X	NC_051356.1 (28015347..28056115)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	X	NC_005120.4 (29562165..29602934)

Chromosome X - NC_086039.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ofd1 plays a role in controlling photoreceptor cilium length and number
Title: OFD1, as a Ciliary Protein, Exhibits Neuroprotective Function in Photoreceptor Degeneration Models.
mutated OFD1 interacts with LCA5-encoded lebercilin
Title: OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

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General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables alpha-tubulin binding	ISO Inferred from Sequence Orthology more info
enables gamma-tubulin binding	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables molecular adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within axoneme assembly	ISO Inferred from Sequence Orthology more info
NOT involved_in centriole replication	ISO Inferred from Sequence Orthology more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	ISO Inferred from Sequence Orthology more info
involved_in embryonic body morphogenesis	ISO Inferred from Sequence Orthology more info
involved_in epithelial cilium movement involved in determination of left/right asymmetry	ISO Inferred from Sequence Orthology more info
NOT involved_in mitotic cell cycle	ISO Inferred from Sequence Orthology more info
NOT involved_in mitotic spindle assembly	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in centriolar satellite	ISO Inferred from Sequence Orthology more info
located_in centriole	ISO Inferred from Sequence Orthology more info
is_active_in centrosome	IBA Inferred from Biological aspect of Ancestor more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
is_active_in ciliary basal body	IBA Inferred from Biological aspect of Ancestor more info
is_active_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in ciliary basal body	ISO Inferred from Sequence Orthology more info
located_in cilium	ISO Inferred from Sequence Orthology more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in microtubule cytoskeleton	ISO Inferred from Sequence Orthology more info
is_active_in motile cilium	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: centriole and centriolar satellite protein OFD1

Names: oral-facial-digital syndrome 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_001106961.1 → NP_001100431.1 centriole and centriolar satellite protein OFD1

See identical proteins and their annotated locations for NP_001100431.1

Status: PROVISIONAL

Source sequence(s)

CH474014

UniProtKB/TrEMBL

A6K2I3, D3ZUD5

Related

ENSRNOP00000006074.6, ENSRNOT00000006074.8

Conserved Domains (3) summary

pfam16045
Location:75 → 101

LisH_2; LisH

cd16269
Location:473 → 487

GBP_C; coiled coil [structural motif]

cl20817
Location:312 → 514

GBP_C; Guanylate-binding protein, C-terminal domain

RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

Reference GRCr8

Genomic

NC_086039.1 Reference GRCr8

Range

31647000..31687768

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_063279934.1 → XP_063136004.1 centriole and centriolar satellite protein OFD1 isoform X2

UniProtKB/TrEMBL

D3ZUD5

Related

ENSRNOP00000102767.1, ENSRNOT00000165290.1
XM_008773164.4 → XP_008771386.3 centriole and centriolar satellite protein OFD1 isoform X1

UniProtKB/TrEMBL

D3ZUD5