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

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

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

Genomic context

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

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
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

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

NCBI Reference Sequences (RefSeq)

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

    Status: REVIEWED

    Source sequence(s)
    AL135744
  4. NM_001377950.1NP_001364879.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AL135744
  5. NM_001377951.1NP_001364880.1  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AL135744
  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, ENST00000400017.6
    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 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_017021473.1XP_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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