Rp1 retinitis pigmentosa 1 (human) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rp1provided by MGI
Official Full Name: retinitis pigmentosa 1 (human)provided by MGI
Primary source: MGI:MGI:1341105
See related: Ensembl:ENSMUSG00000025900 AllianceGenome:MGI:1341105
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Orp1; Rp1h; Dcdc3; mG145; Gm38717
Summary: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. [provided by RefSeq, Jun 2019]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 1 A1; 1 1.65 cM

Exon count:: 27

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (4185896..4479508, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (4115673..4409266, complement)

Chromosome 1 - NC_000067.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The L66P mutation in the first doublecortin domain of the Rp1 gene impairs Rp1 protein localization and function, leading to abnormalities in photoreceptor outer segment structure and progressive photoreceptor degeneration.
Title: A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration.
Rp1 and Rp1L1 play essential and synergistic roles in affecting photosensitivity and morphogenesis of rod photoreceptors. Our findings suggest that mutations in RP1L1 could underlie retinopathy or modify RP1 disease expression
Title: Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa.
The disruption of Rp1 changed gene expression in the c-Jun N-terminal kinase signaling cascades.
Title: Distinct gene expression profiles and reduced JNK signaling in retinitis pigmentosa caused by RP1 mutations.
RP1 is required for the correct orientation and higher order stacking of outer segment discs.
Title: RP1 is required for the correct stacking of outer segment discs.
RP1 is a photoreceptor-specific microtubule-associated protein that participates in controlling the length and stability of the photoreceptor axoneme.
Title: The retinitis pigmentosa 1 protein is a photoreceptor microtubule-associated protein.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1) 1 citation
Chemically induced (ENU) (1) 1 citation
Targeted (3) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

36.MMHAP82FRD12.seq (e-PCR)
- UniSTS:158773

PMC122834P1 (e-PCR)
- UniSTS:270413

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables microtubule binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in axoneme assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in axoneme assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within cell projection organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within cellular response to light stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intracellular signal transduction	IEA Inferred from Electronic Annotation more info
involved_in microtubule polymerization	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of microtubule depolymerization	TAS Traceable Author Statement more info	PubMed
involved_in photoreceptor cell development	IBA Inferred from Biological aspect of Ancestor more info
involved_in photoreceptor cell development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in photoreceptor cell maintenance	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in photoreceptor cell outer segment organization	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of non-motile cilium assembly	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of non-motile cilium assembly	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
involved_in retina development in camera-type eye	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within retina morphogenesis in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinal cone cell development	IDA Inferred from Direct Assay more info	PubMed
involved_in retinal rod cell development	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in axoneme	IBA Inferred from Biological aspect of Ancestor more info
located_in axoneme	IDA Inferred from Direct Assay more info	PubMed
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in ciliary tip	IDA Inferred from Direct Assay more info	PubMed
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
part_of microtubule associated complex	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor cell cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor connecting cilium	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor connecting cilium	ISO Inferred from Sequence Orthology more info	PubMed
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor inner segment	ISO Inferred from Sequence Orthology more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: oxygen-regulated protein 1

Names: lipoxygenase homology domain-containing protein 1; retinitis pigmentosa 1 homolog; retinitis pigmentosa RP1 protein homolog

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_001195662.2 → NP_001182591.1 oxygen-regulated protein 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 5' exon, which results in an upstream in-frame AUG start codon, and an alternate 3' exon, as compared to variant 1. The resulting isoform (2) has a longer N-terminus, but has a much shorter and distinct C-terminus, as compared to isoform 1. The isoform 2 retains two doublecortin domains.

Source sequence(s)

AC113280

Consensus CDS

CCDS78537.1

UniProtKB/TrEMBL

A0A0A6YXU6

Related

ENSMUST00000208793.2

Conserved Domains (2) summary

smart00537
Location:40 → 127

DCX; Domain in the Doublecortin (DCX) gene product

cl00155
Location:162 → 246

UBQ; Ubiquitin-like proteins
NM_001370921.1 → NP_001357850.1 oxygen-regulated protein 1 isoform 3

Status: REVIEWED

Source sequence(s)

AC111099, AC113280, AC132914

Conserved Domains (5) summary

cd01756
Location:395 → 513

PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.

cd17145
Location:35 → 113

DCX1_RP1; Doublecortin-like domain 1 found in retinitis pigmentosa 1 (RP1)-like protein

cd17147
Location:157 → 232

DCX2_RP1; Dublecortin-like domain 2 found in retinitis pigmentosa 1 (RP1)-like protein

cl00011
Location:268 → 383

PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

cl23781
Location:554 → 656

Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...
NM_011283.3 → NP_035413.1 oxygen-regulated protein 1 isoform 1

See identical proteins and their annotated locations for NP_035413.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC113280

Consensus CDS

CCDS14804.1

UniProtKB/Swiss-Prot

P56716, Q548Q8

UniProtKB/TrEMBL

Q4VA02

Related

ENSMUSP00000027032.5, ENSMUST00000027032.6

Conserved Domains (1) summary

cd01617
Location:35 → 110

DCX; Ubiquitin-like domain of DCX

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

4185896..4479508 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030252325.2 → XP_030108185.2 oxygen-regulated protein 1 isoform X1

UniProtKB/TrEMBL

A0A140LHJ6

Related

ENSMUSP00000146439.2, ENSMUST00000208660.2

Conserved Domains (6) summary

cd01756
Location:405 → 523

PLAT_repeat; PLAT/LH2 domain repeats of family of proteins with unknown function. In general, PLAT/LH2 consists of an eight stranded beta-barrel and it's proposed function is to mediate interaction with lipids or membrane bound proteins.

cd17145
Location:45 → 123

DCX1_RP1; Doublecortin-like domain 1 found in retinitis pigmentosa 1 (RP1)-like protein

cd17147
Location:167 → 242

DCX2_RP1; Dublecortin-like domain 2 found in retinitis pigmentosa 1 (RP1)-like protein

cl00011
Location:278 → 393

PLAT; PLAT (Polycystin-1, Lipoxygenase, Alpha-Toxin) domain or LH2 (Lipoxygenase homology 2) domain. It consists of an eight stranded beta-barrel. The domain can be found in various domain architectures, in case of lipoxygenases, alpha toxin, lipases and ...

cl00060
Location:557 → 591

FGF; Acidic and basic fibroblast growth factor family; FGFs are mitogens, which stimulate growth or differentiation of cells of mesodermal or neuroectodermal origin. The family plays essential roles in patterning and differentiation during vertebrate ...

cl23781
Location:564 → 666

Fascin; Fascin-like domain; members include actin-bundling/crosslinking proteins facsin, histoactophilin and singed; identified in sea urchin, Drosophila, Xenopus, rodents, and humans; The fascin-like domain adopts a beta-trefoil topology and contains an ...