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Rpgrip1 retinitis pigmentosa GTPase regulator interacting protein 1 [ Mus musculus (house mouse) ]

Gene ID: 77945, updated on 22-Jan-2023

Summary

Official Symbol
Rpgrip1provided by MGI
Official Full Name
retinitis pigmentosa GTPase regulator interacting protein 1provided by MGI
Primary source
MGI:MGI:1932134
See related
Ensembl:ENSMUSG00000057132 AllianceGenome:MGI:1932134
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
nmf247; 0610005A07Rik; 4930401L23Rik; 4930505G06Rik; A930002K18Rik
Summary
Acts upstream of or within eye development; neural precursor cell proliferation; and visual perception. Located in axoneme and photoreceptor distal connecting cilium. Is expressed in brain; cerebral cortex; photoreceptor layer outer segment; retina outer nuclear layer; and telencephalon ventricular layer. Used to study Leber congenital amaurosis 6. Human ortholog(s) of this gene implicated in Leber congenital amaurosis 6; Leber hereditary optic neuropathy; cone-rod dystrophy 13; and retinitis pigmentosa. Orthologous to human RPGRIP1 (RPGR interacting protein 1). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis adult (RPKM 34.8), CNS E11.5 (RPKM 6.0) and 17 other tissues See more
Orthologs
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Genomic context

See Rpgrip1 in Genome Data Viewer
Location:
14; 14 C2
Exon count:
27
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (52341698..52398796)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (52104241..52161339)

Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene 60S ribosomal protein L17 pseudogene Neighboring gene heterogeneous nuclear ribonucleoprotein C Neighboring gene MRT4, mRNA turnover 4, homolog pseudogene Neighboring gene SPT16, facilitates chromatin remodeling subunit Neighboring gene chromodomain helicase DNA binding protein 8 Neighboring gene predicted gene, 26590 Neighboring gene small nucleolar RNA, C/D box 8

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables thromboxane A2 receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in axoneme IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in neuron projection IDA
Inferred from Direct Assay
more info
PubMed 
located_in non-motile cilium IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in photoreceptor connecting cilium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in photoreceptor connecting cilium IDA
Inferred from Direct Assay
more info
PubMed 
located_in photoreceptor distal connecting cilium IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

mRNA and Protein(s)

  1. NM_001168515.1NP_001161987.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) has multiple differences in the coding region, compared to variant 1. The resulting protein (isoform 2) is shorter when it is compared to isoform 1.
    Source sequence(s)
    AY008297, BC081545, BC086692
    Consensus CDS
    CCDS49490.1
    UniProtKB/Swiss-Prot
    Q9EPQ2
    UniProtKB/TrEMBL
    E9QQ97, Q0VGR8
    Related
    ENSMUSP00000107227.3, ENSMUST00000111600.11
    Conserved Domains (1) summary
    cd00030
    Location:603710
    C2; C2 domain
  2. NM_023879.3NP_076368.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 1

    See identical proteins and their annotated locations for NP_076368.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant represents the longer transcript and it encodes the longer protein (isoform 1).
    Source sequence(s)
    AY008297, BC081545, BC086692
    Consensus CDS
    CCDS36918.1
    UniProtKB/Swiss-Prot
    Q9D5Q1, Q9EPQ2
    UniProtKB/TrEMBL
    Q0VGR8
    Related
    ENSMUSP00000107230.3, ENSMUST00000111603.10
    Conserved Domains (2) summary
    cd00030
    Location:765872
    C2; C2 domain
    pfam11618
    Location:583718
    C2-C2_1; First C2 domain of RPGR-interacting protein 1

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000080.7 Reference GRCm39 C57BL/6J

    Range
    52341698..52398796
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006519689.5XP_006519752.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X1

    Related
    ENSMUSP00000138027.2, ENSMUST00000181401.8
    Conserved Domains (5) summary
    cd00030
    Location:805912
    C2; C2 domain
    TIGR02168
    Location:270594
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam17325
    Location:10831147
    SPG4; Stationary phase protein 4
    pfam11618
    Location:623758
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    pfam18111
    Location:11991364
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  2. XM_017316222.2XP_017171711.2  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X2

    Conserved Domains (4) summary
    cd00030
    Location:603710
    C2; C2 domain
    TIGR02168
    Location:219540
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam17325
    Location:881945
    SPG4; Stationary phase protein 4
    pfam18111
    Location:9971162
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  3. XM_036158901.1XP_036014794.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X4

    Conserved Domains (1) summary
    pfam18111
    Location:8431008
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  4. XM_036158903.1XP_036014796.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X6

    Conserved Domains (2) summary
    TIGR02168
    Location:219544
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam18111
    Location:832997
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  5. XM_036158902.1XP_036014795.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X5

    Conserved Domains (2) summary
    COG1196
    Location:222544
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam18111
    Location:8421007
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  6. XM_036158906.1XP_036014799.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X9

    Conserved Domains (1) summary
    pfam18111
    Location:524689
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  7. XM_006519692.5XP_006519755.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X3

    See identical proteins and their annotated locations for XP_006519755.1

    Conserved Domains (5) summary
    cd00030
    Location:566673
    C2; C2 domain
    TIGR02168
    Location:31355
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
    pfam17325
    Location:844908
    SPG4; Stationary phase protein 4
    pfam11618
    Location:384519
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    pfam18111
    Location:9601125
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  8. XM_036158904.1XP_036014797.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X7

    Conserved Domains (2) summary
    pfam11618
    Location:226346
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    pfam18111
    Location:637802
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  9. XM_006519696.5XP_006519759.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X10

    See identical proteins and their annotated locations for XP_006519759.1

    UniProtKB/Swiss-Prot
    Q9EPQ2
    Conserved Domains (2) summary
    pfam17325
    Location:407471
    SPG4; Stationary phase protein 4
    pfam18111
    Location:523688
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
  10. XM_036158905.1XP_036014798.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X8

    Conserved Domains (3) summary
    cd00030
    Location:184291
    C2; C2 domain
    pfam11618
    Location:2137
    C2-C2_1; First C2 domain of RPGR-interacting protein 1
    pfam18111
    Location:578743
    RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal