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RPGRIP1 RPGR interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 57096, updated on 1-Aug-2020

Summary

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Official Symbol
RPGRIP1provided by HGNC
Official Full Name
RPGR interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:13436
See related
Ensembl:ENSG00000092200 MIM:605446
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LCA6; RGI1; RGRIP; CORD13; RPGRIP; RPGRIP1d
Summary
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]
Expression
Restricted expression toward testis (RPKM 14.5) See more
Orthologs
mouse all

Genomic context

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See RPGRIP1 in Genome Data Viewer
Location:
14q11.2
Exon count:
25
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (21287977..21351316)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21756136..21819460)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 641 Neighboring gene heterogeneous nuclear ribonucleoprotein C Neighboring gene mitochondrial ribosomal protein S17 pseudogene 6 Neighboring gene SPT16 homolog, facilitates chromatin remodeling subunit Neighboring gene uncharacterized LOC107984643 Neighboring gene chromodomain helicase DNA binding protein 8

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Thumb duplication: molecular analysis of different clinical types. Kyriazis Z, et al. Eur J Orthop Surg Traumatol, 2019 Feb. PMID 30498907
  2. Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing. Imani S, et al. J Cell Mol Med, 2018 Mar. PMID 29193763, Free PMC Article
  3. Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients. Huang H, et al. Oncotarget, 2017 May 23. PMID 28456785, Free PMC Article
  4. A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis. Abouzeid H, et al. Klin Monbl Augenheilkd, 2016 Apr. PMID 27116508
  5. A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis. Suzuki T, et al. Jpn J Ophthalmol, 2014 Nov. PMID 25096270

See all (47) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Data indicate that the c. 2889delT (p.P963 fs) mutation in the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene works as a pathogenic mutation that contributes to the progression of Leber congenital amaurosis (LCA).
    Title: Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.
  2. Although the patients had 2 mutated genes in common (RPGRIP1 and TMEM216), they only shared one common mutation in RPGRIP1 gene. Thus, it seems that this common RPGRIP1 mutation is associated with radial polydactyly but probably does not play a significant role in the Wassel type differentiation.
    Title: Thumb duplication: molecular analysis of different clinical types.
  3. Loss of Rpgrip1 expression is associated with Ciliopathy.
    Title: Cell type-specific regulation of ciliary transition zone assembly in vertebrates.
  4. Gene capture sequencing results found three probands carrying mutations of RPGRIP1, which was known to be associated with pathogenesis of LCA (Leber's congenital amaurosis). By further clinical analysis, two probands were confirmed to be retinitis pigmentosa (RP) patients and one was confirmed to be LCA patient. These novel mutations were co-segregated with the disease phenotype in their families.
    Title: Targeted next generation sequencing identified novel mutations in RPGRIP1 associated with both retinitis pigmentosa and Leber's congenital amaurosis in unrelated Chinese patients.
  5. Neurodevelopmental delay and brain atrophy in the CT scan were reported. Genomic sequencing identified a novel homozygous deletion, c.[420delG], in RPGRIP1. This mutation was not detected in 80 ethnically matched controls and has not been reported elsewhere. CONCLUSIONS: Identifying new mutations in Leber congenital amaurosis-related genes and their clinical manifestations can improve our understanding of the disease and.
    Title: A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis.
  6. RPGRIP1 has an essential role in the photoreceptor connecting cilia, and photoreceptors lacking RPGRIP1 are unable to maintain the light sensing outer segments. [review]
    Title: Leber congenital amaurosis caused by mutations in RPGRIP1.
  7. SPATA7 plays a role in RPGRIP1-mediated protein trafficking across the connecting cilium of photoreceptor cells. Apoptotic degeneration of these cells triggered by protein mislocalization is a mechanism of disease progression in LCA3/juvenile RP patients
    Title: Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
  8. Although the present patients did not show sufficient clinical findings as Leber congenital amaurosis (LCA), PCR findings and direct sequencing following microarray analysis confirmed that they were LCA.
    Title: A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis.
  9. Neurodevelopmental delay is a potential feature of strictly defined LCA, documented in our series for some children with homozygous RPGRIP1 and GUCY2D mutations.
    Title: Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay.
  10. We report a novel RPGRIP1 mutation causing LCA in a consanguineous Emirati family. To the best of our knowledge, this alteration has not been described in the literature so far.
    Title: Identification of a novel LCA6 mutation in an Emirati family.
Submit: New GeneRIF Correction See all GeneRIFs (22)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686P0897

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
eye photoreceptor cell development IEA
Inferred from Electronic Annotation
more info
  
neural precursor cell proliferation IEA
Inferred from Electronic Annotation
more info
  
non-motile cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
response to stimulus IEA
Inferred from Electronic Annotation
more info
  
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
  
retinal rod cell development IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
axoneme IEA
Inferred from Electronic Annotation
more info
  
ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
photoreceptor connecting cilium IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
photoreceptor connecting cilium ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Names
retinitis pigmentosa GTPase regulator interacting protein 1

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.

Genomic

  1. NG_008933.1 RefSeqGene

    Range
    5001..68325
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001377523.1 → NP_001364452.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AL135744, BC039089
    Related
    ENSP00000372391.4, ENST00000382933.8

  2. NM_001377948.1 → NP_001364877.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AF260257, AL135744

  3. NM_001377949.1 → NP_001364878.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AL135744

  4. NM_001377950.1 → NP_001364879.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL135744

  5. NM_001377951.1 → NP_001364880.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL135744

  6. NM_020366.4 → NP_065099.3  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 1

    See identical proteins and their annotated locations for NP_065099.3

    Status: REVIEWED

    Source sequence(s)
    AL135744
    Consensus CDS
    CCDS45080.1
    UniProtKB/Swiss-Prot
    Q96KN7
    Related
    ENSP00000382895.2, ENST00000400017.6
    Conserved Domains (3) summary
    cd00030
    Location:801 → 908
    C2; C2 domain
    pfam11618
    Location:619 → 756
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    cl12057
    Location:321 → 382
    Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    21287977..21351316
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021473.1 → XP_016876962.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X7

  2. XM_005267879.2 → XP_005267936.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X1

    Conserved Domains (2) summary
    cd00030
    Location:443 → 550
    C2; C2 domain
    pfam11618
    Location:261 → 398
    C2-C2_1; First C2 domain of RPGR-interacting protein 1

  3. XM_011536978.1 → XP_011535280.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X2

    Conserved Domains (2) summary
    cd00030
    Location:443 → 550
    C2; C2 domain
    pfam11618
    Location:261 → 398
    C2-C2_1; First C2 domain of RPGR-interacting protein 1

  4. XM_024449663.1 → XP_024305431.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X3

    Conserved Domains (3) summary
    cd00030
    Location:443 → 550
    C2; C2 domain
    pfam11618
    Location:261 → 398
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    cl25732
    Location:60 → 218
    SMC_N; RecF/RecN/SMC N terminal domain

  5. XM_011536981.1 → XP_011535283.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X6

    Conserved Domains (1) summary
    pfam11618
    Location:261 → 381
    C2-C2_1; First C2 domain of RPGR-interacting protein 1

  6. XM_024449664.1 → XP_024305432.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X8

    Conserved Domains (1) summary
    pfam11618
    Location:261 → 381
    C2-C2_1; First C2 domain of RPGR-interacting protein 1

  7. XM_011536979.1 → XP_011535281.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X5

    Conserved Domains (2) summary
    cd00030
    Location:371 → 478
    C2; C2 domain
    cl14603
    Location:257 → 326
    C2; C2 domain

  8. XM_011536982.1 → XP_011535284.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X10

  9. XM_024449666.1 → XP_024305434.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X12

  10. XM_005267880.2 → XP_005267937.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X4

    Conserved Domains (2) summary
    cd00030
    Location:432 → 539
    C2; C2 domain
    pfam11618
    Location:250 → 387
    C2-C2_1; First C2 domain of RPGR-interacting protein 1

  11. XM_005267881.3 → XP_005267938.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X9

    Related
    ENSP00000451262.1, ENST00000555587.5
    Conserved Domains (2) summary
    cd00030
    Location:259 → 366
    C2; C2 domain
    pfam11618
    Location:77 → 214
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96KN7.2 GenPept UniProtKB/Swiss-Prot:Q96KN7

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