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Aliases for RPGRIP1 Gene

Aliases for RPGRIP1 Gene

  • Retinitis Pigmentosa GTPase Regulator Interacting Protein 1 2 3
  • RPGR-Interacting Protein 1 3 4
  • CORD13 3 6
  • LCA6 3 6
  • X-Linked Retinitis Pigmentosa GTPase Regulator-Interacting Protein 1 3
  • RPGRIP1d 3
  • RPGRIP 3
  • RGRIP 3
  • RGI1 3

External Ids for RPGRIP1 Gene

Previous HGNC Symbols for RPGRIP1 Gene

  • RPGRIP

Previous GeneCards Identifiers for RPGRIP1 Gene

  • GC14P019128
  • GC14P015543
  • GC14P019746
  • GC14P020825
  • GC14P021756
  • GC14P001876

Summaries for RPGRIP1 Gene

Entrez Gene Summary for RPGRIP1 Gene

  • 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]

GeneCards Summary for RPGRIP1 Gene

RPGRIP1 (Retinitis Pigmentosa GTPase Regulator Interacting Protein 1) is a Protein Coding gene. Diseases associated with RPGRIP1 include leber congenital amaurosis 6 and cone-rod dystrophy 13. An important paralog of this gene is RPGRIP1L.

UniProtKB/Swiss-Prot for RPGRIP1 Gene

  • May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells.

Gene Wiki entry for RPGRIP1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RPGRIP1 Gene

Genomics for RPGRIP1 Gene

Regulatory Elements for RPGRIP1 Gene

Genomic Location for RPGRIP1 Gene

Start:
21,287,939 bp from pter
End:
21,351,301 bp from pter
Size:
63,363 bases
Orientation:
Plus strand

Genomic View for RPGRIP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for RPGRIP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RPGRIP1 Gene

Proteins for RPGRIP1 Gene

  • Protein details for RPGRIP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KN7-RPGR1_HUMAN
    Recommended name:
    X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
    Protein Accession:
    Q96KN7
    Secondary Accessions:
    • Q7Z2W6
    • Q8IXV5
    • Q96QA8
    • Q9HB94
    • Q9HB95
    • Q9HBK6
    • Q9NR40

    Protein attributes for RPGRIP1 Gene

    Size:
    1286 amino acids
    Molecular mass:
    146682 Da
    Quaternary structure:
    • Forms homodimers and elongated homopolymers (By similarity). Interacts with RPGR. Interacts with NPHP4. Interacts with NEK4. Interacts with SPATA7 (PubMed:25398945).
    SequenceCaution:
    • Sequence=CAE11866.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RPGRIP1 Gene

    Alternative splice isoforms for RPGRIP1 Gene

neXtProt entry for RPGRIP1 Gene

Proteomics data for RPGRIP1 Gene at MOPED

Post-translational modifications for RPGRIP1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RPGRIP1 Gene

Domains for RPGRIP1 Gene

Protein Domains for RPGRIP1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for RPGRIP1 Gene

Graphical View of Domain Structure for InterPro Entry

Q96KN7

UniProtKB/Swiss-Prot:

RPGR1_HUMAN :
  • Q96KN7
Domain:
  • The C2 domain does not bind calcium ions, and does not bind phosphoinositides.
  • Contains 1 C2 domain.
Family:
  • Belongs to the RPGRIP1 family.
genes like me logo Genes that share domains with RPGRIP1: view

No data available for Gene Families for RPGRIP1 Gene

Function for RPGRIP1 Gene

Molecular function for RPGRIP1 Gene

UniProtKB/Swiss-Prot Function: May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells.

Gene Ontology (GO) - Molecular Function for RPGRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21224891
genes like me logo Genes that share ontologies with RPGRIP1: view

Phenotypes for RPGRIP1 Gene

MGI mutant phenotypes for RPGRIP1:
inferred from 2 alleles
GenomeRNAi human phenotypes for RPGRIP1:
genes like me logo Genes that share phenotypes with RPGRIP1: view

Animal Models for RPGRIP1 Gene

MGI Knock Outs for RPGRIP1:

Animal Model Products

CRISPR Products

miRNA for RPGRIP1 Gene

miRTarBase miRNAs that target RPGRIP1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for RPGRIP1 Gene

Localization for RPGRIP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RPGRIP1 Gene

Cell projection, cilium. Note=Situated between the axonemal microtubules and the plasma membrane. {ECO:0000250 UniProtKB:Q9EPQ2}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RPGRIP1 Gene COMPARTMENTS Subcellular localization image for RPGRIP1 gene
Compartment Confidence
cytosol 2
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for RPGRIP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005929 cilium --
GO:0005930 axoneme IEA --
GO:0031513 nonmotile primary cilium --
GO:0032391 photoreceptor connecting cilium ISS --
genes like me logo Genes that share ontologies with RPGRIP1: view

Pathways for RPGRIP1 Gene

SuperPathways for RPGRIP1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RPGRIP1 Gene

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 --
genes like me logo Genes that share ontologies with RPGRIP1: view

No data available for Pathways by source for RPGRIP1 Gene

Transcripts for RPGRIP1 Gene

Unigene Clusters for RPGRIP1 Gene

Retinitis pigmentosa GTPase regulator interacting protein 1:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for RPGRIP1

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for RPGRIP1

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RPGRIP1 Gene

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: - - - - - -
SP6:
SP7:
SP8:
SP9: - - -

ExUns: 17b · 17c ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b
SP1:
SP2:
SP3:
SP4:
SP5: - - - -
SP6:
SP7:
SP8:
SP9:

Relevant External Links for RPGRIP1 Gene

GeneLoc Exon Structure for
RPGRIP1
ECgene alternative splicing isoforms for
RPGRIP1

Expression for RPGRIP1 Gene

mRNA expression in normal human tissues for RPGRIP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RPGRIP1 Gene

This gene is overexpressed in Testis (32.5).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for RPGRIP1 Gene

SOURCE GeneReport for Unigene cluster for RPGRIP1 Gene Hs.126035

mRNA Expression by UniProt/SwissProt for RPGRIP1 Gene

Q96KN7-RPGR1_HUMAN
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.
genes like me logo Genes that share expressions with RPGRIP1: view

In Situ Assay Products

Orthologs for RPGRIP1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RPGRIP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RPGRIP1 35
  • 99.21 (n)
  • 98.9 (a)
RPGRIP1 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RPGRIP1 35
  • 83.53 (n)
  • 76.94 (a)
RPGRIP1 36
  • 74 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RPGRIP1 35
  • 80.11 (n)
  • 72.55 (a)
RPGRIP1 36
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rpgrip1 35
  • 77.13 (n)
  • 68.12 (a)
Rpgrip1 16
Rpgrip1 36
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RPGRIP1 36
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rpgrip1 35
  • 77.15 (n)
  • 68.05 (a)
lizard
(Anolis carolinensis)
Reptilia RPGRIP1 36
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rpgrip1 35
  • 50.56 (n)
  • 39.86 (a)
zebrafish
(Danio rerio)
Actinopterygii RPGRIP1 36
  • 27 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mks-5 36
  • 14 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 25 (a)
OneToMany
Species with no ortholog for RPGRIP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for RPGRIP1 Gene

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

Paralogs for RPGRIP1 Gene

Paralogs for RPGRIP1 Gene

genes like me logo Genes that share paralogs with RPGRIP1: view

Variants for RPGRIP1 Gene

Sequence variations from dbSNP and Humsavar for RPGRIP1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type MAF
rs762069 -- 21,314,562(+) gcctg(G/T)gcaac intron-variant
rs1040904 untested, - 21,301,034(+) GGCGC(A/C)GCTCT missense, reference
rs1054981 -- 21,350,689(-) TTAAT(A/C)CCTTA intron-variant
rs1957413 -- 21,310,429(+) GGCAG(A/G)GGAAA intron-variant
rs1957414 -- 21,310,633(+) CTCTG(C/T)TTCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RPGRIP1 Gene

Variant ID Type Subtype PubMed ID
nsv509527 CNV Insertion 20534489
esv2647291 CNV Deletion 19546169
esv2748454 CNV Deletion 23290073
esv2748455 CNV Deletion 23290073
esv2667349 CNV Deletion 23128226
esv2663580 CNV Deletion 23128226

Relevant External Links for RPGRIP1 Gene

HapMap Linkage Disequilibrium report
RPGRIP1
Human Gene Mutation Database (HGMD)
RPGRIP1
Locus Specific Mutation Databases (LSDB)
RPGRIP1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RPGRIP1 Gene

Disorders for RPGRIP1 Gene

(2) OMIM Diseases for RPGRIP1 Gene (605446)

UniProtKB/Swiss-Prot

RPGR1_HUMAN
  • Leber congenital amaurosis 6 (LCA6) [MIM:613826]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {ECO:0000269 PubMed:11528500, ECO:0000269 PubMed:18682808}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cone-rod dystrophy 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. {ECO:0000269 PubMed:10958648, ECO:0000269 PubMed:12920076}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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.

(9) Novoseek inferred disease relationships for RPGRIP1 Gene

Disease -log(P) Hits PubMed IDs
lebers congenital amaurosis 97.7 16
cone-rod dystrophy 88.1 3
retinitis pigmentosa 87.1 17
blindness congenital 78.4 1
retinal degeneration 70.3 1

Relevant External Links for RPGRIP1

GeneTests
RPGRIP1
GeneReviews
RPGRIP1
Genetic Association Database (GAD)
RPGRIP1
Human Genome Epidemiology (HuGE) Navigator
RPGRIP1
genes like me logo Genes that share disorders with RPGRIP1: view

Publications for RPGRIP1 Gene

  1. The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. (PMID: 10958648) Roepman R. … Ferreira P.A. (Hum. Mol. Genet. 2000) 2 3 4 23
  2. Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. (PMID: 12920076) Hameed A. … Khaliq S. (J. Med. Genet. 2003) 3 4 23 48
  3. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis. (PMID: 11528500) Gerber S. … Rozet J.-M. (Eur. J. Hum. Genet. 2001) 3 4 23
  4. Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species. (PMID: 12140192) Mavlyutov T.A. … Ferreira P.A. (Hum. Mol. Genet. 2002) 3 4 23
  5. Identification of a novel protein interacting with RPGR. (PMID: 10958647) Boylan J.P. … Wright A.F. (Hum. Mol. Genet. 2000) 2 3 4

Products for RPGRIP1 Gene

Sources for RPGRIP1 Gene

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