RPGRIP1

GENERAL INFORMATION

? »

Gene name

RPGRIP1

Gene description

Retinitis pigmentosa GTPase regulator interacting protein 1

Protein class

Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

8
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Tissue enriched (testis)
GTEx:Tissue enriched (testis)

Protein evidence

Evidence at protein level

Protein localization

Most normal cells showed weak to moderate cytoplasmic and/or nuclear positivity. Additional strong membranous staining was observed in respiratory epithelia and fallopian tube. Renal tubules, adrenal gland and cells in seminiferus ducts showed strong cytoplasmic immunoreactivity. The liver, pancreatic islets, glial cells, smooth muscle cells and spleen were negative.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA042955
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Tonsil

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Tissue enriched (testis)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enriched (testis)

Organ

Expression



GENE INFORMATION

? »

Gene name

RPGRIP1 (HGNC Symbol)

Synonyms

CORD13, LCA6, RGI1, RPGRIP

Description

Retinitis pigmentosa GTPase regulator interacting protein 1 (HGNC Symbol)

Entrez gene 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]

Chromosome

14

Cytoband

q11.2

Chromosome location (bp)

21287939 - 21351301

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000092200 (version 78.38)

Entrez gene

57096

UniProt

Q96KN7 (UniProt - Evidence at protein level)

neXtProt

NX_Q96KN7

Antibodypedia

RPGRIP1 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000382933
 
ENST00000400017
 
ENST00000554303
 
ENST00000555587
 
ENST00000556336
 
ENST00000557351
 
ENST00000557606
 
ENST00000557771
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RPGRIP1-001 ENSP00000382895
ENST00000400017
Q96KN7
Show all »
Show » Show » 1286 146.7 No 0
RPGRIP1-002 ENSP00000372391
ENST00000382933
Q96KN7
Show all »
Show » Show » 612 70.1 No 0
RPGRIP1-006 ENSP00000452215
ENST00000557351
G3V577
Show all »
Show » 166 18.6 No 0
RPGRIP1-008 ENSP00000450426
ENST00000554303
H0YIY1
Show all »
Show » 143 16.4 No 0
RPGRIP1-009 ENSP00000451262
ENST00000555587
G3V3I7
Show all »
Show » Show » 761 87 No 0
RPGRIP1-010 ENSP00000450445
ENST00000556336
G3V236
Show all »
Show » 943 108.1 No 0
RPGRIP1-011 ENSP00000451219
ENST00000557771
G3V3F7
Show all »
Show » Show » 1248 142.8 No 0
RPGRIP1-012 ENSP00000451719
ENST00000557606
Show » 134 15.1 No 0