Expression of RPGRIP1 in cancer - Summary

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
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HUMAN PROTEIN ATLAS INFORMATION

RNA category

TCGA (cancer tissue):	Tissue enhanced (testis cancer)
HPA (cell line):	Cell line enhanced (RT4)
HPA (normal tissue):	Tissue enriched (testis)

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Cytoplasmic expression in photoreceptor cells. Additional expression in flagella in testis and in cilia in fallopian tube, endometrial glands and respiratory epithelia.

ANTIBODY IHC RELIABILITY
Data reliability description	No internal RNA expression data available for correlation. External characterization data supports antibody staining but no internal RNA data available for correlation.
Reliability score	Supported based on 2 antibodies. HPA042955 , HPA060190
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset RNA cancer category: Tissue enhanced (testis cancer)

PROTEIN EXPRESSION

STAINING SUMMARY

HPA042955	HPA060190

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 83.38)
Entrez gene	57096
UniProt	Q96KN7 (UniProt - Evidence at protein level)
neXtProt	NX_Q96KN7
Antibodypedia	RPGRIP1 antibodies

PROTEIN BROWSER

RPGRIP1-001	RPGRIP1-002	RPGRIP1-006	RPGRIP1-008	RPGRIP1-009	RPGRIP1-010	RPGRIP1-011	RPGRIP1-012

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
RPGRIP1-001 ENSP00000382895 ENST00000400017	Q96KN7 [Direct mapping] X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 Show all	Predicted intracellular proteins Disease related genes Protein evidence (Kim et al 2014) Show all	GO:0005515 [protein binding] GO:0005929 [cilium] GO:0005930 [axoneme] GO:0007601 [visual perception] GO:0031513 [nonmotile primary cilium] GO:0032391 [photoreceptor connecting cilium] GO:0042462 [eye photoreceptor cell development] GO:0050896 [response to stimulus] GO:0060041 [retina development in camera-type eye] GO:0061351 [neural precursor cell proliferation] Show all	1286 aa 146.7 kDa	No	0
RPGRIP1-002 ENSP00000372391 ENST00000382933	Q96KN7 [Direct mapping] X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 Show all	Predicted intracellular proteins Disease related genes Show all	GO:0005515 [protein binding] GO:0032391 [photoreceptor connecting cilium] GO:0050896 [response to stimulus] Show all	612 aa 70.1 kDa	No	0
RPGRIP1-006 ENSP00000452215 ENST00000557351	G3V577 [Direct mapping] X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 Show all	SCAMPI predicted membrane proteins Predicted intracellular proteins Show all	GO:0007601 [visual perception] GO:0032391 [photoreceptor connecting cilium] GO:0042462 [eye photoreceptor cell development] Show all	166 aa 18.6 kDa	No	0
RPGRIP1-008 ENSP00000450426 ENST00000554303	H0YIY1 [Direct mapping] X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 Show all	Predicted intracellular proteins Show all	GO:0005515 [protein binding] GO:0007601 [visual perception] GO:0032391 [photoreceptor connecting cilium] GO:0042462 [eye photoreceptor cell development] Show all	143 aa 16.4 kDa	No	0
RPGRIP1-009 ENSP00000451262 ENST00000555587	G3V3I7 [Direct mapping] X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 Show all	Predicted intracellular proteins Show all	GO:0005515 [protein binding] GO:0007601 [visual perception] GO:0032391 [photoreceptor connecting cilium] GO:0042462 [eye photoreceptor cell development] Show all	761 aa 87 kDa	No	0
RPGRIP1-010 ENSP00000450445 ENST00000556336	G3V236 [Direct mapping] X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 Show all	Predicted intracellular proteins Show all	GO:0007601 [visual perception] GO:0032391 [photoreceptor connecting cilium] GO:0042462 [eye photoreceptor cell development] Show all	943 aa 108.1 kDa	No	0
RPGRIP1-011 ENSP00000451219 ENST00000557771	G3V3F7 [Direct mapping] X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 Show all	Predicted intracellular proteins Show all	GO:0005515 [protein binding] GO:0007601 [visual perception] GO:0032391 [photoreceptor connecting cilium] GO:0042462 [eye photoreceptor cell development] Show all	1248 aa 142.8 kDa	No	0
RPGRIP1-012 ENSP00000451719 ENST00000557606	H0YJK6 [Direct mapping] X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 Show all	Predicted intracellular proteins Show all	GO:0007601 [visual perception] GO:0032391 [photoreceptor connecting cilium] GO:0042462 [eye photoreceptor cell development] Show all	134 aa 15.1 kDa	No	0