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RP1

GENERAL INFORMATION

Gene name

 RP1

Gene description

 Retinitis pigmentosa 1 (autosomal dominant)

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 1
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Not detected
HPA (cell line):Cell line enhanced (RPTEC TERT1)
HPA (normal tissue):Tissue enhanced (fallopian tube)

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Cytoplasmic expression in cones and nerve fibers in retina.

ANTIBODY IHC RELIABILITY

Data reliability
description

 External characterization data supports antibody staining but no internal RNA data available for correlation.

Reliability score

 Supported based on 1 antibody.
HPA042257
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PROGNOSTIC SUMMARY
Gene product is not prognostic.
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Not detected

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA042257

GENE INFORMATION

Gene name

 RP1 (HGNC Symbol)

Synonyms

 DCDC4A

Description

 Retinitis pigmentosa 1 (autosomal dominant) (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]

Chromosome

 8

Cytoband

 q12.1

Chromosome location (bp)

 54616067 - 54630834

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000104237 (version 83.38)

Entrez gene

 6101

UniProt

 P56715 (UniProt - Evidence at protein level)

neXtProt

 NX_P56715

Antibodypedia

 RP1 antibodies

PROTEIN BROWSER
RP1-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
RP1-001
ENSP00000220676
ENST00000220676
P56715 [Direct mapping]
Oxygen-regulated protein 1
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   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
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GO:0001750 [photoreceptor outer segment]
GO:0001917 [photoreceptor inner segment]
GO:0005515 [protein binding]
GO:0005874 [microtubule]
GO:0005875 [microtubule associated complex]
GO:0005929 [cilium]
GO:0005930 [axoneme]
GO:0007601 [visual perception]
GO:0007603 [phototransduction, visible light]
GO:0008017 [microtubule binding]
GO:0032391 [photoreceptor connecting cilium]
GO:0035082 [axoneme assembly]
GO:0035556 [intracellular signal transduction]
GO:0035845 [photoreceptor cell outer segment organization]
GO:0042461 [photoreceptor cell development]
GO:0045494 [photoreceptor cell maintenance]
GO:0046548 [retinal rod cell development]
GO:0046549 [retinal cone cell development]
GO:0060041 [retina development in camera-type eye]
GO:0060042 [retina morphogenesis in camera-type eye]
GO:0071482 [cellular response to light stimulus]
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 2156 aa
240.7 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.