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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RPGRIP1 Gene

protein-coding GIFtS: 57
GCID: GC14P021756

retinitis pigmentosa GTPase regulator interacting protein...

(Previous symbol: RPGRIP)

Explore 20 diseases affiliated with
RPGRIP1 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 GTPase Regulator Interacting Protein 1¹ ²		CORD13² ⁵
LCA6¹ ² ⁵		RGRIP²
RGI1¹ ²		RPGRIP1d²
RPGRIP¹ ²		X-Linked Retinitis Pigmentosa GTPase Regulator-Interacting Protein 1²
RPGR-Interacting Protein 1² ³

External Ids:	HGNC: 13436¹	Entrez Gene: 57096²	Ensembl: ENSG00000092200⁷	OMIM: 605446⁵	UniProtKB: Q96KN7³

Export aliases for RPGRIP1 gene to outside databases

Previous GC identifers: GC14P019128 GC14P015543 GC14P019746 GC14P020825 GC14P001876

(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 RPGRIP1:

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a

key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital

blindness. (provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: RPGR1_HUMAN, Q96KN7

Function: Essential for RPGR function and is also required for normal disk morphogenesis (By similarity)

Gene Wiki entry for RPGRIP1

(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_000014.8 NC_018925.1 NT_026437.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RPGRIP1 gene promoter:
E2F-3a E2F-4 E2F-5 E2F-2 Cdc5 GATA-2 E2F-1 E2F CP1C CP1A
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): RPGRIP1 promoter sequence

Search SABiosciences Chromatin IP Primers for RPGRIP1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RPGRIP1

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

Entrez Gene cytogenetic band: 14q11 Ensembl cytogenetic band: 14q11.2 HGNC cytogenetic band: 14q11.2

RPGRIP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RPGRIP1 gene location

GeneLoc information about chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14P021756: view genomic region (about GC identifiers)

Start:	21,756,098 bp from pter	End:	21,819,460 bp from pter
Size:	63,363 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: RPGR1_HUMAN, Q96KN7 (See protein sequence)

Recommended Name: X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

Size: 1286 amino acids; 146682 Da

Subunit: Forms homodimers and elongated homopolymers (By similarity). Interacts with RPGR. Interacts with NPHP4

Subcellular location: Cell projection, cilium (By similarity). Note=Situated between the axonemal microtubules and the

plasma membrane (By similarity)

Sequence caution: Sequence=CAE11866.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Secondary accessions: Q7Z2W6 Q8IXV5 Q96QA8 Q9HB94 Q9HB95 Q9HBK6 Q9NR40

Alternative splicing: 6 isoforms: Q96KN7-1 Q96KN7-2 Q96KN7-3 Q96KN7-4 Q96KN7-5 Q96KN7-6

Explore the universe of human proteins at neXtProt for RPGRIP1: NX_Q96KN7

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96KN7

RPGRIP1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_065099.3

ENSEMBL proteins:

ENSP00000450445 ENSP00000451219 ENSP00000382895 ENSP00000372391 ENSP00000452215

ENSP00000450662 ENSP00000451262 ENSP00000450426 ENSP00000451044 ENSP00000451719

ENSP00000206660 ENSP00000309721

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	Uscn Proteins for RPGRIP1

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005929	cilium	IEA	--
GO:0005930	axoneme	IEA	--

RPGRIP1 for ontologies About GeneDecksing

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

RPGRIP1 for domains About GeneDecksing

3 InterPro domains/families:

IPR008973 C2_Ca/lipid-bd_dom_CaLB

IPR021656 DUF3250

IPR000008 C2_Ca-dep

Graphical View of Domain Structure for InterPro Entry Q96KN7

ProtoNet protein and cluster: Q96KN7

1 Blocks protein family: IPB000008 C2 domain

UniProtKB/Swiss-Prot: RPGR1_HUMAN, Q96KN7

Similarity: Belongs to the RPGRIP1 family

Similarity: Contains 1 C2 domain

(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: RPGR1_HUMAN, Q96KN7

Function: Essential for RPGR function and is also required for normal disk morphogenesis (By similarity)

miRNA Products:		OriGene 3'-UTR Clone: RPGRIP1 Browse MicroRNA Expression Plasmids
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Gene Editing
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPGRIP1

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

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

RPGRIP1 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for RPGRIP1:

Decreased mitotic index

Increased G1 DNA content

Animal Models:
Mouse knock-out Rpgrip1^tm1Tili for RPGRIP1
2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Rpgrip1):

nervous system

vision/eye

RPGRIP1 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 RPGRIP1

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5/7 Interacting proteins for RPGRIP1 (Q96KN7³ ENSP00000382895⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 7)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RPGR	Q92834³, ENSP00000367766⁴	I2D: score=2 STRING: ENSP00000367766
NPHP4	O75161³, ENSP00000367398⁴	I2D: score=1 STRING: ENSP00000367398
TFE3	P19532³, ENSP00000314129⁴	I2D: score=1 STRING: ENSP00000314129
CEBPA	P49715³	I2D: score=1
SRPX	P78539³	I2D: score=1

About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007601	visual perception	IEA	--
GO:0042462	eye photoreceptor cell development	IEA	--
GO:0050896	response to stimulus	IEA	--
GO:0060041	retina development in camera-type eye	IEA	--

RPGRIP1 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 RPGRIP1
Search CenterWatch for drugs/clinical trials and news about RPGRIP1 / RPGR1

(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 RPGRIP1 gene:

NM_020366.3

Unigene Cluster for RPGRIP1:

Retinitis pigmentosa GTPase regulator interacting protein 1

Hs.126035 [show with all ESTs]

Unigene Representative Sequence: NM_020366

15 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000556336 ENST00000557771(uc001waj.1 uc001wal.3) ENST00000400017(uc001wag.3)

ENST00000554750 ENST00000382933(uc001wai.3) ENST00000557351 ENST00000553500

ENST00000555322(uc010aim.3) ENST00000555587 ENST00000554303 ENST00000555489

ENST00000553927(uc001wam.3) ENST00000557606 ENST00000206660(uc001wah.3 uc001wak.3)

ENST00000307974

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Additional cDNA sequence:

AF227257.1 AF260257.1 AF265666.1 AF265667.1 AJ417067.1 AK301780.1 AY914561.1 BC039089.1

9 DOTS entries:

DT.100745756 DT.100745757 DT.95164266 DT.95164265 DT.409264 DT.120757021 DT.101955126 DT.120757038

DT.101972808

24/30 AceView cDNA sequences (see all 30):

AF265667 BC039089 NM_020366 BU729630 AJ417067 AF265666 AL711852 BI829146

BI826832 BX954021 BI825694 AL712797 BX571740 AF227257 BX646036 BX491264

AA782963 AF260257 AI015922 AA928161 BP370518 BU568229 AI655818 AW593388

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for RPGRIP1 (see all 9) About this scheme

ExUns:	1	^	2	^	3a	·	3b	^	4a	·	4b	^	5	^	6	^	7	^	8	^	9	^	10a	·	10b	·	10c	^	11	^	12	^	13	^	14a	·	14b	^	15a	·	15b	·	15c	^	16a	·	16b	·	16c	^	17a	·
SP1:											-												-		-				-								-								-		-
SP2:																													-								-								-		-
SP3:																																													-		-		-
SP4:																																											-		-						-
SP5:																													-								-								-		-		-		-

ExUns:	17b	·	17c	^	18	^	19	^	20	^	21	^	22	^	23	^	24	^	25	^	26	^	27a	·	27b
SP1:
SP2:
SP3:
SP4:
SP5:	-		-		-		-

ECgene alternative splicing isoforms for RPGRIP1

(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

RPGRIP1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

RPGRIP1 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 RPGRIP1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RPGRIP1

SOURCE GeneReport for Unigene cluster: Hs.126035

UniProtKB/Swiss-Prot: RPGR1_HUMAN, Q96KN7

Tissue specificity: Strong expression in retina, with weaker expression in testis. Expressed in other neurons such as

amacrine cells. Colocalizes with RGPR in the outer segment of rod photoreceptors and cone outer segments

SABiosciences Custom PCR Arrays for RPGRIP1

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In Situ
Assay Products:

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(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 RPGRIP1 gene from 5/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Rpgrip1^{1 , 5}	retinitis pigmentosa GTPase regulator interacting protein more^{1, 5}	76.32(n)¹ 66.51(a)¹		14 (26.81 cM)⁵ 77945¹ NM_001168515.1¹ NP_001161987.1¹ 52110903⁵
lizard (Anolis carolinensis)	Reptilia	RPGRIP1⁶	--	39(a)	1 ↔ 1	GL343466.1(353349-381727)
zebrafish (Danio rerio)	Actinopterygii	si:dkey-86e23.2⁶	si:dkey-86e23.2	26(a)	1 ↔ 1	24(7861908-7890778)
honey bee (Apis mellifera)	Insecta	--	--	18(a)	1 → many	Group5.12(521896-524473)
worm (Caenorhabditis elegans)	Secernentea	mks-5⁶	Uncharacterized protein C09G5.8	12(a)	1 → many	II(10720172-10729193)

ENSEMBL Gene Tree for RPGRIP1 (if available)
TreeFam Gene Tree for RPGRIP1 (if available)

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

Paralogs for RPGRIP1 gene

RPGRIP1L²

3 SIMAP similar genes for RPGRIP1 using alignment to 11 protein entries: RPGR1_HUMAN (see all proteins):

RBMS2 RHBG RPGRIP1L

RPGRIP1 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

SNP ID	Valid	Clinical significance	Chr 14 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs10151259^1,2	C,F,H,	pathogenic	21790040(+)	`CAAAAG/TCTGAC`	2	A S	mis¹ ese³		21		NS EA NA WA EU	3147
rs17103671^1,2	C,F,H,	pathogenic	21811196(+)	`TCAGGA/GTTCAG`	2	D G	mis¹		17		NA NS EA WA EU	2525
rs137853911^1,2	C,	untested	21811213(+)	`TGTGCA/GTTGAA`	2	I V	mis¹		1		EU	593
rs150685865^1,2		--	21754186(+)	`TCTTGC/TTGCCC`	1	--	us2k¹		0	--	--	--	--
rs181720031^1,2		--	21754189(+)	`TGTTGC/TCCAGG`	1	--	us2k¹		0	--	--	--	--
rs185996964^1,2		--	21754331(+)	`TTTTAA/GTGGAG`	1	--	us2k¹		0	--	--	--	--
rs12434913^1,2	C,H,	--	21754365(+)	`GGCTGG/TTCTTG`	1	--	us2k¹		1		NA	2
rs149346463^1,2		--	21754533(+)	`TAGGAC/TGGTAG`	1	--	us2k¹		0	--	--	--	--
rs189969051^1,2		--	21754606(+)	`CCTGTC/TGGGGA`	1	--	us2k¹		0	--	--	--	--
rs114485494^1,2	F,	--	21754610(+)	`TTGGGG/AAAAAG`	1	--	us2k¹		2		WA NA	238

HapMap Linkage Disequilibrium report for RPGRIP1 (21756098 - 21819460 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for RPGRIP1
1 CNV: 101893
Human Gene Mutation Database (HGMD): RPGRIP1

Locus Specific Mutation Databases (LSDB): RPGRIP1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing RPGRIP1

DNA2.0 Custom Variant and Variant Library Synthesis for RPGRIP1

(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

RPGRIP1 for disorders           About GeneDecksing

OMIM gene information: 605446
OMIM disorders: 608194
UniProtKB/Swiss-Prot: RPGR1_HUMAN, Q96KN7

Defects in RPGRIP1 are the cause of Leber congenital amaurosis type 6 (LCA6) [MIM:613826]. LCA designates a

clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal

recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography.

LCA represents the most common genetic cause of congenital visual impairment in infants and children

Defects in RPGRIP1 are the cause of cone-rod dystrophy type 13 (CORD13) [MIM:608194]. An inherited retinal

dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular

region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity

and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs

earlier than in retinitis pigmentosa

Note=Heterozygous non-synonymous variants of RPGRIP1 may cause or increase the susceptibility to various forms

of glaucoma, a genetically heterogeneous disorder. It is the second cause of blindness worldwide owing to the

progressive degeneration of retinal ganglion neurons

20 diseases for RPGRIP1: About MalaCards

retinitis pigmentosa retinitis cone-rod dystrophy cone-rod dystrophy 13

open-angle glaucoma leber congenital amaurosis laurence-moon syndrome leber congenital amaurosis 6

blindness primary open angle glaucoma retinitis pigmentosa 3 fundus dystrophy

retinal degeneration n syndrome glaucoma joubert syndrome

nephronophthisis coloboma retinal disease neuronitis

7 diseases from the University of Copenhagen DISEASES database for RPGRIP1:

Leber congenital amaurosis cone-rod dystrophy Fundus dystrophy Retinitis pigmentosa

Blindness Nephronophthisis Laurence-Moon syndrome

9 Novoseek disease relationships for RPGRIP1 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lebers congenital amaurosis	97.7	17	17306875 (2), 16123399 (2), 11283794 (2), 16806805 (2) (see all 12)
cone-rod dystrophy	88.1	5	12920076 (1), 16806805 (1), 18593457 (1)
retinitis pigmentosa	87.1	25	16272259 (3), 10958648 (1), 15370538 (1), 17306875 (1) (see all 15)
blindness congenital	78.4	1	16339905 (1)
retinal degeneration	70.3	1	19430481 (1)
visual impairment	56.6	2	18632300 (1), 16806805 (1)
vision low	54.5	1	16205573 (1)
retinopathy	53.2	4	12140192 (2), 17653054 (1)
atrophy	25.3	2	15691574 (1), 16205573 (1)

GeneTests: RPGRIP1

Leber Congenital Amaurosis

Genetic Association Database (GAD): RPGRIP1
Human Genome Epidemiology (HuGE) Navigator: RPGRIP1 (4 documents)

Export disorders for RPGRIP1 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)
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PubMed articles for RPGRIP1 gene, integrated from 9 sources (see all 55):
(articles sorted by number of sources associating them with RPGRIP1)

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The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. (PubMed id 10958648)^{1, 2, 3, 9} Roepman R.... Ferreira P.A. (2000)
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. (PubMed id 12920076)^{1, 2, 4, 9} Hameed A.... Khaliq S. (2003)
Identification of a novel protein interacting with RPGR. (PubMed id 10958647)^{1, 2, 3} Boylan J.P. and Wright A.F. (2000)
Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. (PubMed id 12140192)^{1, 2, 9} Mavlyutov T.A.... Ferreira P.A. (2002)
Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. (PubMed id 11528500)^{1, 2, 9} Gerber S.... Rozet J.-M. (2001)
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma. (PubMed id 21224891)^{1, 2} FernA!ndez-MartA-nez L....Pasutto F. (2011)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Identification of novel murine- and human-specific RPGRIP1 splice variants with distinct expression profiles and subcellular localization. (PubMed id 15914599)^{1, 9} Lu X. and Ferreira P.A. (2005)
Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. (PubMed id 16339905)^{1, 9} Roepman R....Cremers F.P. (2005)
Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis. (PubMed id 15800011)^{1, 9} Lu X....Ferreira P.A. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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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: 57096	HGNC: 13436	AceView: RPGRIP1	Ensembl:ENSG00000092200	euGenes: HUgn57096
ECgene: RPGRIP1	H-InvDB: RPGRIP1

(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 RPGRIP1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RPGRIP1

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