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

    Gene ID: 57096, updated on 26-Jul-2021

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See RPGRIP1 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    26
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (21280083..21351316)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21748242..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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • DKFZp686P0897

    Gene Ontology Provided by GOA

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

    General protein information

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001377523.1NP_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_001377948.1NP_001364877.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AF260257, AL135744
      Conserved Domains (4) summary
      cd00030
      Location:443550
      C2; C2 domain
      COG1196
      Location:60218
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam11618
      Location:261398
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
      pfam18111
      Location:756921
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
    3. NM_001377949.1NP_001364878.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AL135744
      Conserved Domains (1) summary
      pfam18111
      Location:476641
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
    4. NM_001377950.1NP_001364879.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AL135744
      Conserved Domains (1) summary
      pfam18111
      Location:440605
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
    5. NM_001377951.1NP_001364880.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AL135744
      Conserved Domains (1) summary
      pfam18111
      Location:275440
      RPGR1_C; Retinitis pigmentosa G-protein regulator interacting C-terminal
    6. NM_020366.4NP_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, ENST00000400017.7
      Conserved Domains (3) summary
      cd00030
      Location:801908
      C2; C2 domain
      pfam11618
      Location:619756
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
      cl12057
      Location:321382
      Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    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
      21280083..21351316
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

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

      Conserved Domains (2) summary
      cd00030
      Location:443550
      C2; C2 domain
      pfam11618
      Location:261398
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
    3. XM_011536978.1XP_011535280.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X2

      Conserved Domains (2) summary
      cd00030
      Location:443550
      C2; C2 domain
      pfam11618
      Location:261398
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
    4. XM_024449663.1XP_024305431.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X3

      Conserved Domains (3) summary
      cd00030
      Location:443550
      C2; C2 domain
      pfam11618
      Location:261398
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
      cl25732
      Location:60218
      SMC_N; RecF/RecN/SMC N terminal domain
    5. XM_011536981.1XP_011535283.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X6

      Conserved Domains (1) summary
      pfam11618
      Location:261381
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
    6. XM_024449664.1XP_024305432.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X8

      Conserved Domains (1) summary
      pfam11618
      Location:261381
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
    7. XM_011536979.1XP_011535281.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X5

      Conserved Domains (2) summary
      cd00030
      Location:371478
      C2; C2 domain
      cl14603
      Location:257326
      C2; C2 domain
    8. XM_011536982.1XP_011535284.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X10

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

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

      Conserved Domains (2) summary
      cd00030
      Location:432539
      C2; C2 domain
      pfam11618
      Location:250387
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
    11. XM_005267881.3XP_005267938.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X9

      Related
      ENSP00000451262.1, ENST00000555587.5
      Conserved Domains (2) summary
      cd00030
      Location:259366
      C2; C2 domain
      pfam11618
      Location:77214
      C2-C2_1; First C2 domain of RPGR-interacting protein 1
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