Expression of RP1L1 in cancer - Summary - The Human Protein Atlas

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RP1L1

TISSUE

CELL

PATHOLOGY

PATHOLOGY ATLAS

GENE/PROTEIN

Antibody validation

Dictionary


Level of antibody staining/expression
	High Medium Low Not detected

GENERAL INFORMATION
Gene name	RP1L1
Gene description	Retinitis pigmentosa 1-like 1
Protein class	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):	Not detected
HPA (normal tissue):	Not detected

Protein evidence

Evidence at protein level

Protein expression
normal tissue

Expression in outer segment of photoreceptor cells.

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 2 antibodies. HPA024686 , HPA024744
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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

Prostate cancer

STAINING SUMMARY

HPA024686	HPA024744

GENE INFORMATION
Gene name	RP1L1 (HGNC Symbol)
Synonyms	DCDC4B
Description	Retinitis pigmentosa 1-like 1 (HGNC Symbol)
Entrez gene summary	This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]
Chromosome	8
Cytoband	p23.1
Chromosome location (bp)	10606349 - 10712187
Protein evidence	Evidence at protein level (all genes)
Ensembl	ENSG00000183638 (version 83.38)
Entrez gene	94137
UniProt
neXtProt
Antibodypedia	RP1L1 antibodies

PROTEIN BROWSER

RP1L1-001

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
RP1L1-001 ENSP00000371923 ENST00000382483	A6NKC6 [Direct mapping] Retinitis pigmentosa 1-like 1 protein Show all	Predicted intracellular proteins Protein evidence (Kim et al 2014) Show all	GO:0001750 [photoreceptor outer segment] GO:0005930 [axoneme] GO:0032391 [photoreceptor connecting cilium] GO:0035082 [axoneme assembly] GO:0035556 [intracellular signal transduction] GO:0042461 [photoreceptor cell development] GO:0060041 [retina development in camera-type eye] Show all	2400 aa 252.3 kDa	No	0

Contact

contact@proteinatlas.org

The Project

The Human Protein Atlas

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