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Field

Term
Gene name

Class

Subclass

Chromosome

External id

In atlas

Reliability

Reliability

Reliability

Validation

Method

Validation

Method

Validation

Method

Validation

Location

Searches

Tissue

Cell type

Expression

Tissue

Specificity

Cell line

Specificity

Tissue

Detectable

Cell line

Detectable

Category

Score

Score

Score

Antibodies

Column

 
 
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RP1
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TISSUE ATLAS PRIMARY DATA

GENE/PROTEIN

Antibody validation


Dictionary


Tissue proteome

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 tissue category

HPA:Tissue enhanced (fallopian tube)
GTEx:Not detected
FANTOM5:Tissue enriched (retina)

Protein evidence

Evidence at protein level

Protein expression

Cytoplasmic expression in cones and nerve fibers in retina.

DATA 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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RNA AND PROTEIN EXPRESSION SUMMARY

RNA expression (TPM) Protein expression (score)
Brain
Cerebral cortex
Hippocampus
N/A
Caudate
N/A
Cerebellum
N/A
Endocrine tissues
Thyroid gland
Parathyroid gland
Adrenal gland
Bone marrow & immune system
Appendix
Bone marrow
Lymph node
Tonsil
Spleen
Muscle tissues
Heart muscle
Skeletal muscle
Smooth muscle
Lung
Nasopharynx
N/A
Bronchus
N/A
Lung
Liver & gallbladder
Liver
Gallbladder
Pancreas
Pancreas
Gastrointestinal tract
Oral mucosa
N/A
Salivary gland
Esophagus
Stomach
Duodenum
Small intestine
Colon
Rectum
Kidney & urinary bladder
Kidney
Urinary bladder
Male tissues
Testis
Epididymis
Prostate
Seminal vesicle
Female tissues
Breast
Vagina
N/A
Cervix, uterine
Endometrium
Fallopian tube
Ovary
Placenta
Adipose & soft tissue
Adipose tissue
Soft tissue
N/A
Skin
Skin
Eye
N/A
Retina
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Retina

PROTEIN EXPRESSION OVERVIEW

Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW

HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (fallopian tube)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Not detected
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enriched (retina)

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)
Show all
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]
Show all
2156 aa
240.7 kDa
No 0

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