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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RP1 Gene

protein-coding GIFtS: 50
GCID: GC08P055539

retinitis pigmentosa 1 (autosomal dominant)

Explore 10 diseases affiliated with
RP1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Retinitis Pigmentosa 1 (Autosomal Dominant)¹ ²		ORP1² ³
DCDC4A¹ ²		Oxygen-Regulated Protein 1²
Retinitis Pigmentosa 1 Protein² ³		O⁵
Retinitis Pigmentosa RP1 Protein² ³

External Ids:	HGNC: 10263¹	Entrez Gene: 6101²	Ensembl: ENSG00000104237⁷	OMIM: 603937⁵	UniProtKB: P56715³

Export aliases for RP1 gene to outside databases

Previous GC identifers: GC08P054800 GC08P055467 GC08P055251 GC08P055578 GC08P055691 GC08P050996

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RP1:

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. Transcript variants resulted from an alternative

promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons

upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of

some variants cannot be determined at this time.(provided by RefSeq, Sep 2010)

UniProtKB/Swiss-Prot: RP1_HUMAN, P56715

Function: Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of

photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the

outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer

segment disks along the photoreceptor axoneme (By similarity)

Gene Wiki entry for RP1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000008.10 NC_018919.1 NT_008183.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RP1 gene promoter:
AML1a POU2F1 GATA-3 POU2F1a CUTL1 LCR-F1 GATA-1 GATA-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RP1 promoter sequence

Search SABiosciences Chromatin IP Primers for RP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RP1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8q12.1 Ensembl cytogenetic band: 8q12.1 HGNC cytogenetic band: 8q12.1

RP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RP1 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08P055539: view genomic region (about GC identifiers)

Start:	55,528,627 bp from pter	End:	55,543,394 bp from pter
Size:	14,768 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RP1_HUMAN, P56715 (See protein sequence)

Recommended Name: Oxygen-regulated protein 1

Size: 2156 amino acids; 240661 Da

Subunit: Interacts (via the doublecortin domains) with microtubules. Interacts with RP1L1 (By similarity). Interacts

with MAK (By similarity)

Subcellular location: Cytoplasm, cytoskeleton, cilium axoneme (By similarity). Cell projection, cilium, photoreceptor

outer segment. Note=Specifically localized in the connecting cilia of rod and cone photoreceptors

Explore the universe of human proteins at neXtProt for RP1: NX_P56715

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P56715

RP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_006260.1

ENSEMBL proteins:

ENSP00000220676

Human Recombinant Protein Products:

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	Uscn Proteins for RP1

Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001750	photoreceptor outer segment	ISS	--
GO:0001917	photoreceptor inner segment	IDA	11773008
GO:0005625	soluble fraction	--	--
GO:0005737	cytoplasm	--	--
GO:0005874	microtubule	IEA	--

RP1 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for RP1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

RP1 for domains About GeneDecksing

1 InterPro domain/family:

IPR003533 Doublecortin_dom

Graphical View of Domain Structure for InterPro Entry P56715

ProtoNet protein and cluster: P56715

1 Blocks protein family: IPB003533 Doublecortin

UniProtKB/Swiss-Prot: RP1_HUMAN, P56715

Domain: The doublecortin domains, which mediate interaction with microtubules, are required for regulation of

microtubule polymerization and function in photoreceptor differentiation (By similarity)

Similarity: Contains 2 doublecortin domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: RP1_HUMAN, P56715

Function: Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of

photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the

outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer

segment disks along the photoreceptor axoneme (By similarity)

Genatlas biochemistry entry for RP1:

retina specific gene,mutated in RP1

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RP1
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate RP1:
		hsa-miR-3185 hsa-miR-3148
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Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for RP1

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RP1

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	--
GO:0008017	microtubule binding	ISS	--

RP1 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for RP1: Rp1^tm1Eap Rp1^tm1Jnz
     3 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Rp1):

cardiovascular system

nervous system

vision/eye

RP1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for RP1

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

5/10 Interacting proteins for RP1 (P56715³ ENSP00000220676⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 10)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APC	P25054³, ENSP00000257430⁴	I2D: score=1 STRING: ENSP00000257430
POLR2G	ENSP00000301788⁴	STRING: ENSP00000301788
SF3B4	ENSP00000271628⁴	STRING: ENSP00000271628
SLC29A1	ENSP00000360773⁴	STRING: ENSP00000360773
SP3	ENSP00000310301⁴	STRING: ENSP00000310301

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007601	visual perception	TAS	10391211
GO:0007603	phototransduction, visible light	TAS	10391211
GO:0035082	axoneme assembly	ISS	--
GO:0035556	intracellular signal transduction	IEA	--
GO:0035845	photoreceptor cell outer segment organization	ISS	--

RP1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RP1
Search CenterWatch for drugs/clinical trials and news about RP1

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for RP1 gene:

NM_006269.1

Unigene Cluster for RP1:

Retinitis pigmentosa 1 (autosomal dominant)

Hs.732820 [show with all ESTs]

Unigene Representative Sequence: NM_006269

1 Ensembl transcript including schematic representation, and UCSC links where relevant:

ENST00000220676(uc003xsd.1 uc011ldy.1)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RP1
		2 QIAGEN miScript miRNA Assays for microRNAs that regulate RP1:
		hsa-miR-3185 hsa-miR-3148
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RP1 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RP1 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: RP1 (NM_001618)
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Additional cDNA sequence:

AF141021.1 AF143222.1 AF146592.1 AK302348.1 DQ980612.1 DQ980613.1 DQ980614.1 DQ980615.1

3 DOTS entries:

DT.40279069 DT.120639557 DT.99935639

24/33 AceView cDNA sequences (see all 33):

NM_006269 BM661861 AL712847 BM665526 BM703017 BQ639345 BX279907 BX115012

AF146592 BM711615 BU730175 AF143222 AF141021 BU729244 BX490876 AL712952

AL712987 BX490961 AK098176 BG217362 BU628383 BM693046 BX953536 AL713028

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

RP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

RP1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Eye

Outer Nuclear Layer

Mature Rod Cells

Photoreceptors, Retina

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Photoreceptor-like cells (Generation of retina...)

See RP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RP1

SOURCE GeneReport for Unigene cluster: Hs.732820

UniProtKB/Swiss-Prot: RP1_HUMAN, P56715

Tissue specificity: Expressed in retina. Not expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney,

spleen and pancreas

SABiosciences Custom PCR Arrays for RP1

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RP1

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for RP1 gene from 5/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rp1^{1 , 5}	retinitis pigmentosa 1 (human)^{1, 5}	75.32(n)¹ 62.61(a)¹		1 (1.65 cM)⁵ 19888¹ NM_011283.2¹ NP_035413.1¹ 4343507⁵
chicken (Gallus gallus)	Aves	LOC421123¹	oxygen-regulated protein 1-like	54.65(n) 39.33(a)		421123 XM_419205.3 XP_419205.3
zebrafish (Danio rerio)	Actinopterygii	si:dkey-94e7.3⁶ CABZ01072735.1⁶	--	14(a) 12(a)	1 ↔ 1 possible ortholog	2(30441997-30448963) Zv9_NA625(17617-31182)
honey bee (Apis mellifera)	Insecta	--	--	5(a)	1 → many	Group11.9(48197-48806)
worm (Caenorhabditis elegans)	Secernentea	F27C1.13⁶	Protein F27C1.13	26(a)	1 → many	I(5443881-5446858)

ENSEMBL Gene Tree for RP1 (if available)
TreeFam Gene Tree for RP1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for RP1 gene

RP1L1²

RP1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: RP1_HUMAN, P56715

Polymorphism: Tyr-985 is associated with susceptibility to hypertriglyceridemia [MIM:145750] in the homozygous state

SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs77775126^1,2	C,F,	pathogenic	51005796(+)	`AAGAAC/TAGAAA`	2	T I	mis¹		3		NA EU	5979
rs104894082^1,2	C	pathogenic	51006707(+)	`AATCTC/TGACAG`	2	R *	stg¹		0	--	--	--	--
rs104894083^1,2	C	pathogenic	51006713(+)	`GACAGC/TAAGCA`	2	Q *	stg¹		0	--	--	--	--
rs28399531^1,2	C,F,	untested	51006933(+)	`TTCCAC/TGATTT`	2	T M	mis¹ ese³		5		CSA WA NA	4182
rs137853908^1,2	C,F,	untested	51010733(+)	`AAGAAG/AGTAAT`	2	/S /G	mis¹		2		NA EU	5505
rs200860068^1,2	C	other	51009413(+)	`CTGATT/GTAAAA`	2	/V /L	mis¹		1		EU	1309
rs183370413^1,2	C,	other	51010066(+)	`CCAACA/GATGGA`	2	T	syn¹		0	--	--	--	--
rs72650321^1,2	C,	--	50994882(+)	`AGGTAC/TTTTTC`	1	--	us2k¹		0	--	--	--	--
rs73679491^1,2	C,	--	50995123(+)	`TGAAGT/GCATTC`	1	--	us2k¹		2		WA	120
rs73679492^1,2	C,	--	50995135(+)	`CAGGGA/GAGAAG`	1	--	us2k¹		2		WA	120

HapMap Linkage Disequilibrium report for RP1 (55528627 - 55543394 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RP1: --
Human Gene Mutation Database (HGMD): RP1

Locus Specific Mutation Databases (LSDB): RP1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RP1

DNA2.0 Custom Variant and Variant Library Synthesis for RP1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RP1 for disorders           About GeneDecksing

OMIM gene information: 603937
OMIM disorders: 180100  145750
UniProtKB/Swiss-Prot: RP1_HUMAN, P56715

Defects in RP1 are the cause of retinitis pigmentosa type 1 (RP1) [MIM:180100]. RP leads to degeneration of

retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As

their condition progresses, they lose their far peripheral visual field and eventually central vision as well

10 diseases for RP1: About MalaCards

retinitis pigmentosa retinitis hereditary nephrotic syndromes intracranial aneurysm

hypertriglyceridemia cone dystrophy retinal degeneration nephrotic syndrome

blindness retinal disease

6 Novoseek disease relationships for RP1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
retinitis pigmentosa 1	97.3	5	15933747 (1), 12634863 (1), 12764676 (1), 12724644 (1)
retinitis pigmentosa	87.7	24	15933747 (2), 12882812 (2), 15183808 (2), 16568030 (2) (see all 13)
retinal degeneration	74.2	1	12724644 (1)
retinitis	68.7	3	12634863 (1), 17896309 (1), 11527933 (1)
blindness	50	2	16835924 (1), 12692530 (1)
retinopathy	48.1	5	12634863 (1), 10484783 (1), 10845615 (1)

Genatlas disease: RP1

retinitis pigmentosa 1,autosomal dominant

Genetic Association Database (GAD): RP1
Human Genome Epidemiology (HuGE) Navigator: RP1 (27 documents)

Export disorders for RP1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for RP1 gene, integrated from 9 sources (see all 53):
(articles sorted by number of sources associating them with RP1)

Utopia: connect your pdf to the dynamic
world of online information

Hypertriglyceridemia associated with amino acid variation Asn985Tyr of the RP1 gene. (PubMed id 12764676)^{1, 2, 4, 9} Fujita Y....Saito Y. (2003)
Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors. (PubMed id 11773008)^{1, 2, 9} Liu Q....Pierce E.A. (2002)
De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa. (PubMed id 12882812)^{1, 4, 9} Schwartz S.B....Stone E.M. (2003)
A nonsense mutation in a novel gene is associated with retinitis pigmentosa in a family linked to the RP1 locus. (PubMed id 10401003)^{1, 2, 9} Guillonneau X.... Farber D.B. (1999)
RP1 and autosomal dominant rod-cone dystrophy: Novel mutations, a review of published variants, and genotype-phenotype correlation. (PubMed id 22052604)^{1, 2} Audo I.... Zeitz C. (2011)
Differential pattern of RP1 mutations in retinitis pi gmentosa. (PubMed id 20664799)^{1, 2} Zhang X....Pang C.P. (2010)
[Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong] (PubMed id 16185528)^{1, 4} Wang D.Y....Pang C.P. (2005)
Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. (PubMed id 15863674)^{1, 2} Khaliq S....Mehdi S.Q. (2005)
[Mutation analysis of retinitis pigmentosa 1 gene in Chinese with retinitis pigmentosa] (PubMed id 12048676)^{1, 4} Zhang X....Fu W. (2002)
Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. (PubMed id 10391212)^{1, 2} Sullivan L.S.... Daiger S.P. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 6101	HGNC: 10263	AceView: RP1	Ensembl:ENSG00000104237	euGenes: HUgn6101
ECgene: RP1	H-InvDB: RP1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for RP1	Pharmacogenomics, SNPs, Pathways
RetNet	https://sph.uth.tmc.edu/retnet/
Mutations of the RP1 gene	http://www.retina-international.org/files/sci-news/rp1mut.htm
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RP1

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retinitis pigmentosa 1 (autosomal dominant)

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retinitis pigmentosa 1 (autosomal dominant)

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