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RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1 [ Homo sapiens (human) ]

Gene ID: 57096, updated on 24-Sep-2014
Official Symbol
RPGRIP1provided by HGNC
Official Full Name
retinitis pigmentosa GTPase regulator interacting protein 1provided by HGNC
Primary source
HGNC:HGNC:13436
See related
Ensembl:ENSG00000092200; HPRD:05673; MIM:605446; Vega:OTTHUMG00000170758
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]
See RPGRIP1 in Epigenomics, MapViewer
Location:
14q11
Exon count:
25
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 14 NC_000014.9 (21287977..21351301)
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 (C1/C2) Neighboring gene mitochondrial ribosomal protein S17 pseudogene 6 Neighboring gene suppressor of Ty 16 homolog (S. cerevisiae) Neighboring gene chromodomain helicase DNA binding protein 8 Neighboring gene small nucleolar RNA, C/D box 9

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp686P0897

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
 
Process Evidence Code Pubs
eye photoreceptor cell development IEA
Inferred from Electronic Annotation
more info
 
response to stimulus IEA
Inferred from Electronic Annotation
more info
 
retina development in camera-type eye IEA
Inferred from Electronic Annotation
more info
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
axoneme IEA
Inferred from Electronic Annotation
more info
 
nonmotile primary cilium IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
Names
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1
RPGR-interacting protein 1

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 

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

mRNA and Protein(s)

  1. NM_020366.3NP_065099.3  X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

    See proteins identical to NP_065099.3

    Status: REVIEWED

    Source sequence(s)
    AJ417067, AW593388, BX571740
    Consensus CDS
    CCDS45080.1
    UniProtKB/Swiss-Prot
    Q96KN7
    Related
    ENSP00000382895, OTTHUMP00000244344, ENST00000400017, OTTHUMT00000410258
    Conserved Domains (3) summary
    cd00030
    Location:801908
    C2; C2 domain
    pfam02403
    Location:321385
    Seryl_tRNA_N; Seryl-tRNA synthetase N-terminal domain
    pfam11618
    Location:652756
    DUF3250; Protein of unknown function (DUF3250)

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000014.9 

    Range
    21287977..21351301
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006720208.1XP_006720271.1  

    See proteins identical to XP_006720271.1

    Conserved Domains (2) summary
    cd00030
    Location:443550
    C2; C2 domain
    pfam11618
    Location:294398
    DUF3250; Protein of unknown function (DUF3250)
  2. XM_006720209.1XP_006720272.1  

    UniProtKB/Swiss-Prot
    Q96KN7
    Related
    ENSP00000372391, OTTHUMP00000244345, ENST00000382933, OTTHUMT00000410260
  3. XM_005267879.1XP_005267936.1  

    Conserved Domains (2) summary
    cd00030
    Location:443550
    C2; C2 domain
    pfam11618
    Location:294398
    DUF3250; Protein of unknown function (DUF3250)
  4. XM_005267880.1XP_005267937.1  

    Conserved Domains (2) summary
    cd00030
    Location:432539
    C2; C2 domain
    pfam11618
    Location:283387
    DUF3250; Protein of unknown function (DUF3250)
  5. XM_005267881.1XP_005267938.1  

    Related
    ENSP00000451262, OTTHUMP00000244348, ENST00000555587, OTTHUMT00000410264
    Conserved Domains (2) summary
    cd00030
    Location:259366
    C2; C2 domain
    pfam11618
    Location:110214
    DUF3250; Protein of unknown function (DUF3250)
  6. XM_006720210.1XP_006720273.1  

    Conserved Domains (1) summary
    cd00030
    Location:22129
    C2; C2 domain

Alternate HuRef

Genomic

  1. AC_000146.1 

    Range
    1876922..1939296
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018925.2 

    Range
    21757824..21821127
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)