RP1L1 Gene
protein-coding GIFtS : 45 GCID: GC08 M010501
Retinitis Pigmentosa 1-Like 1
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Aliasesfor RP1L1 gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
10 fRNAdb ,
12 H-InvDB ,
13 NCBI ,
14 NONCODE ,
and/or 15 RNAdb )About This Section Aliases Retinitis Pigmentosa 1-Like 1 1 2 DCDC4B2 Retinitis Pigmentosa 1-Like 1 Protein2
Export aliases for RP1L1 gene to outside databases Previous GC identifers: GC00U991063 GC08U900030 GC08M010335 GC08M009394
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Summariesfor RP1L1 gene (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 RP1L1 Gene: This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). (provided by RefSeq, Sep 2010) GeneCards Summary for RP1L1 Gene: RP1L1 (retinitis pigmentosa 1-like 1) is a protein-coding gene. Diseases associated with RP1L1 include occult macular dystrophy retinitis RP1 . UniProtKB/Swiss-Prot: RP1L1_HUMAN, Q8IWN7 Function : Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment ofrod and cone photoreceptors (By similarity)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Viewsfor RP1L1 gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 73) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000008.10 NC_018919.2 NT_077531.4 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the RP1L1 gene promoter:Tal-1 POU6F1 (c2) NF-kappaB Tal-1beta Cdc5 E47 Ik-2 NF-kappaB2 NF-kappaB1 Other transcription factors Search SABiosciences Chromatin IP Primers for RP1L1 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RP1L1
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 8p23.1 Ensembl cytogenetic band: 8p23.1 HGNC cytogenetic band: 8p23.1 RP1L1 Gene in genomic location: bands according to Ensembl, locations according to
Entrez Gene Ensembl GeneLoc information about chromosome 8 GeneLoc Exon Structure
GeneLoc location for GC08M010501: view genomic region
(about GC identifiers )
Start: 10,463,859 bp from pter End:
10,569,697 bp from pter
Size: 105,839 bases Orientation:
minus strand
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Proteinsfor RP1L1 gene
(According to
UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE 1 MOPED ,
2 PaxDb , and 3 MAXQB
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
Cloud-Clone Corp. ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Cloud-Clone Corp. ,
Ontologies according to Gene
Ontology Consortium 01 Oct 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
LSBio ,
Abcam , and/or
Cloud-Clone Corp. )
About This Section UniProtKB/Swiss-Prot: RP1L1_HUMAN, Q8IWN7 See
protein sequence )Recommended Name: Size : 2480 amino acids; 261207 DaSubunit : Interacts with RP1; has a synergistic effect with RP1 in photoreceptor differentiation (By similarity)Subcellular location : Cytoplasm, cytoskeleton, cilium axoneme. Cell projection, cilium, photoreceptor outer segment (Bysimilarity). Note=Localized to the axoneme of outer segments and connecting cilia in rod photoreceptors (By similarity)
Secondary accessions : Q86SQ1 Q8IWN8 Q8IWN9 Q8IWP0 Q8IWP1 Q8IWP2Alternative splicing : 2 isoforms : Q8IWN7-1 Q8IWN7-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for RP1L1: NX_Q8IWN7 Explore proteomics data for RP1L1 at MOPED Post-translational modifications:
View modification sites using PhosphoSitePlus View neXtProt modification sites for NX_Q8IWN7 RP1L1 Protein expression data from MOPED1 2 3 : About this image REFSEQ proteins: NP_849188.4 ENSEMBL proteins: ENSP00000371923 Human Recombinant Protein Products for RP1L1: Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view) : About this table
About GeneDecksing RP1L1 Antibody Products: Assay Products for RP1L1:
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Protein
Domains /for RP1L1 gene (According to HGNC , IUPHAR , InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section 1 InterPro protein domain :
Graphical View of Domain Structure for InterPro Entry Q8IWN7 ProtoNet protein and cluster: Q8IWN7
1 Blocks protein domain : IPB003533 UniProtKB/Swiss-Prot: RP1L1_HUMAN, Q8IWN7 Domain : The C-terminal part contains a large repetitive region which contains an unusually high percentage ofglutamine, glycine and above all glutamic acid residues Similarity : Contains 2 doublecortin domainsAbout GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Functionfor RP1L1 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
RNAi from
EMD Millipore ,
siRNAs from
OriGene ,
QIAGEN ,
microRNA from QIAGEN ,
Gene Editing from DNA2.0 ,
Sirion Biotech ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Oct 2013 via
Entrez Gene .)
About This Section Molecular Function: UniProtKB/Swiss-Prot Summary: RP1L1_HUMAN, Q8IWN7 Function : Required for the differentiation of photoreceptor cells. Plays a role in the organization of outer segment ofrod and cone photoreceptors (By similarity) Phenotypes: 2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Rp1l1) :
About GeneDecksing Animal Models: Rp1l1 tm1Jnz for RP1L1In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RP1L1
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Pathways & Interactionsfor RP1L1 gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
Sino Biological ,
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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Oct 2013 via
Entrez Gene) .
About This Section Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RP1L1 STRING Interaction
Network Preview (showing 4 interactants - click image to see more details)4 Interacting proteins for RP1L1 (Q8IWN7 2 , 3 ENSP00000371923 4 via UniProtKB, MINT, STRING , and/or I2D About this table Gene Ontology (GO): 5 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:0030030 cell projection organization
IEA -- GO:0035556 intracellular signal transduction
IEA -- GO:0042461 photoreceptor cell development
ISS -- GO:0045494 photoreceptor cell maintenance
ISS --
About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Drugs & Compoundsfor RP1L1 gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , and Drugs according to
DrugBank ,
IUPHAR ,
Enzo Life Sciences , and/or
PharmGKB , with drugs/clinical trials/news
search links to CenterWatch )
About This Section Browse Tocris compounds for RP1L1 RP1L1
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Transcriptsfor RP1L1 gene (Secondary structures according to
fRNAdb ,Unigene
(Build 236 Homo sapiens; Apr 25 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , KenesGroup ,
exon structure from GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,EMD Millipore ,
OriGene ,
QIAGEN ,
shRNA from
OriGene ,
Sirion Biotech ,
microRNA from QIAGEN ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for RP1L1 gene: NM_178857.5 Unigene Cluster for RP1L1:
Retinitis pigmentosa 1-like 1 Hs.33538 [show with all ESTs ] Unigene Representative Sequence: AY168346 2 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000382483 (uc003wtc.3 ) ENST00000329335 Primer human mouse SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat
Additional mRNA sequence: AJ491324.2 AY168341.1 AY168342.1 AY168343.1 AY168344.1 AY168345.1 AY168346.1
4 DOTS entries : DT.411175 DT.100020964
DT.100748800 DT.100020963 24/29 AceView cDNA sequences (see all 29 ):
BX101250 AA019117 BM719479 CK299909 AY168344 AK127545 AY168342 BQ184755 AY168341 BQ186792 AA059256 BM682803 BG395268 BM558973 H85580 BQ186229 AY168345 NM_178857 R84770 BM930879 R85514 AA019118 AJ491324 AY168343 GeneLoc Exon Structure
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Expression for RP1L1 gene
(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 ,SABiosciences ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section RP1L1 expression in normal human tissues
(normalized intensities) RP1L1 embryonic expression: see See probesets specificity/sensitivity at GeneAnnot About this image BioGPS 2/3 CGAP TAG: CTGTCCTGGGAbout this image
RP1L1 expression in embryonic tissues and stem cells About this table LifeMap ,
the Embryonic Development and Stem Cells Database 5/1 selected tissues (see all 1 ) fully expand See RP1L1 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for RP1L1 SOURCE GeneReport for Unigene cluster: Hs.33538 UniProtKB/Swiss-Prot: RP1L1_HUMAN, Q8IWN7 Tissue specificity : Retinal-specific; expressed in photoreceptorSABiosciences Custom PCR Arrays for RP1L1 Primer human mouse SABiosciences RT2 qPCR Primer Assay in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RP1L1
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Orthologsfor RP1L1 gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
About This Section Orthologs for RP1L1 gene from 5/10 species (see all 10 ) About this table
Organism
Taxonomic
Gene
Description
Human
Orthology
Details
mouse Mammalia Rp1l11 5
retinitis pigmentosa 1 homolog (human)-like 11, 5
64.01(n) 1 49.65(a) 1
14 (33.34 cM) 5 271209 1 NM_146246.3 1 NP_666358.2 1 63992431 5
chicken Aves RP1L16
retinitis pigmentosa 1-like 1
25(a)
1 ↔ 1
3(106375249-106398770)
lizard Reptilia RP1L16
Uncharacterized protein
22(a)
1 ↔ 1
4(41026363-41042736)
zebrafish Actinopterygii RP1L16
retinitis pigmentosa 1-like 1
12(a)
1 ↔ 1
17(5562212-5583829)
worm Secernentea F27C1.136
Protein F27C1.13
25(a)
1 → many
I(5443878-5446855)
ENSEMBL Gene Tree for RP1L1 (if available)TreeFam Gene Tree for RP1L1 (if available)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Paralogsfor RP1L1 gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for RP1L1 gene RP1 2 About GeneDecksing
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genomic Variantsfor RP1L1 gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
4 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: RP1L1_HUMAN, Q8IWN7 Polymorphism : The exact length of RP1L1 is variable between individuals due to the presence of several lengthpolymorphisms. The sequence shown here is that of allele RP1L1-6 and includes 8 repeats (from aa 1292-1422) with a length of 16 amino acids. The number of repeats is highly polymorphic and varies among different alleles, ranging from 3 to 8
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical Chr 8 pos Sequence # AA Type More # Allele Pop Total More
HapMap Linkage Disequilibrium report for RP1L1 (10463859 - 10569697 bp)
Structural Variations Database of Genomic Variants (DGV) 8 variations for RP1L1 : About this table Human Gene Mutation Database (HGMD) : RP1L1 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human mouse rat
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Disorders
/ Diseasesfor RP1L1 gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database , Conferences by KenesGroup ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB .)
About This Section About GeneDecksing OMIM gene information: 608581 OMIM disorders : 613587 UniProtKB/Swiss-Prot: RP1L1_HUMAN, Q8IWN7 Occult macular dystrophy (OCMD) [MIM:613587]: An inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. It is typically characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina. Note=The disease is caused by mutations affecting the gene represented in this entry 5 : About MalaCards occult macular dystrophy retinitis retinitis pigmentosa retinal degeneration thyroiditis 2 diseases from the University of Copenhagen DISEASES database for RP1L1 :Occult macular dystrophy Retinitis pigmentosa Export disorders for RP1L1 gene to outside databases
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Publicationsfor RP1L1 gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section PubMed articles for RP1L1 gene, integrated from 9 sources (see all 16 ):(articles sorted by number of sources associating them with RP1L1) Utopia : connect your pdf to the dynamic
Identification and characterization of the retinitis pigmentosa 1- like1 gene (rp1l1): a novel candidate for retinal degenerations. (PubMed id 12634863) 1 , 2 , 3, 9(2003) Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. (PubMed id 12724644) 1 , 2 , 9(2003) Dominant mutations in RP1L1 are responsible for occul t macular dystrophy. (PubMed id 20826268) 1 , 2 (2010) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 , 2 (2004) Clinical and genetic characteristics of Korean occult macular dystrophy patients. (PubMed id 23745001) 1 (2013) RP1L1 variants are associated with a spectrum of inher ited retinal diseases including retinitis pigmentosa and occult macular dystroph y. (PubMed id 23281133) 1 (2013) Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661) 1 (2012) A new mutation in the RP1L1 gene in a patient with occult macular dystrophy associated with a depolarizing pattern of focal macular electroretinograms. (PubMed id 22605915) 2 (2012) Autosomal dominant occult macular dystrophy with an RP 1L1 mutation (R45W). (PubMed id 22504327) 1 (2012) Clinical characteristics of occult macular dystrophy i n family with mutation of RP1l1 gene. (PubMed id 22466457) 1 (2012)
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
External Searches for RP1L1 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Genome Databases showing RP1L1 gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Other Databases showing RP1L1 gene
(According to HUGE )
About This Section --
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Specialized Databases showing RP1L1 gene (According to PharmGKB ,
ATLAS , HORDE , IMGT , LEIDEN , UniProtKB/Swiss-Prot , and/or UniProtKB/TrEMBL ,Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot )About This Section
Name Description PharmGKB entry for RP1L1 Pharmacogenomics, SNPs, Pathways
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
About This Section Patent Information for RP1L1 gene: RP1L1 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
Jump to Section...
Aliases
Databases
Disorders / Diseases
Domains / Families
Drugs / Compounds
Expression
Function
Genomic Views
Intellectual Property
Orthologs
Paralogs
Pathways / Interactions
Products
Proteins
Publications
Search Box
Summaries
Transcripts
Variants
TOP
BOTTOM
Productsfor RP1L1 gene (Antibodies, recombinant proteins, and assays from EMD Millipore , R&D Systems , OriGene , QIAGEN , GenScript , Cell Signaling Technology , SABiosciences , Novus Biologicals , Sino Biological , Enzo Life Sciences , Abcam , ProSpec , Cloud-Clone Corp. , Thermo Fisher Scientific , LSBio , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , PCR Arrays from SABiosciences , Drugs and/or compounds from EMD Millipore , Tocris Bioscience , and/or
Enzo Life Sciences , In Situ Hybridization Assays from Advanced Cell Diagnostics , Animal models from inGenious Targeting Laboratory )About This Section
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RP1L1 QIAGEN SeqTarget long-range PCR primers in human mouse rat QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RP1L1 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human mouse rat QIAGEN QuantiFast Probe-based Assays in human mouse rat QIAGEN QuantiTect SYBR Green Assays in human mouse rat
Search Tocris compounds for RP1L1
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RP1L1
Search ThermoFisher Antibodies for RP1L1
Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RP1L1
Jump to Section...
Aliases for RP1L1
Databases for RP1L1
Disorders / Diseases for RP1L1
Domains / Families for RP1L1
Drugs / Compounds for RP1L1
Expression for RP1L1
Function for RP1L1
Genomic Views for RP1L1
Intellectual Property for RP1L1
Orthologs for RP1L1
Paralogs for RP1L1
Pathways / Interactions for RP1L1
Products for RP1L1
Proteins for RP1L1
Publications for RP1L1
Search Box for RP1L1
Summaries for RP1L1
Transcripts for RP1L1
Variants for RP1L1
TOP
BOTTOM
Browse Tocris compounds for 
