InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: RP1

Summary

InnateDB Protein

IDBP-22036.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

RP1

Protein Name

retinitis pigmentosa 1 (autosomal dominant)

Synonyms

DCDC4A; ORP1;

Species

Homo sapiens

Ensembl Protein

ENSP00000220676

InnateDB Gene

IDBG-22034 (RP1)

Protein Structure

UniProt Annotation

Function

Microtubule-associated protein regulating the stability and length of the microtubule-based axoneme of photoreceptors. Required for the differentiation of photoreceptor cells, it plays a role in the organization of the outer segment of rod and cone photoreceptors ensuring the correct orientation and higher-order stacking of outer segment disks along the photoreceptor axoneme (By similarity). {ECO:0000250}.

Subcellular Localization

Cytoplasm, cytoskeleton, cilium axoneme {ECO:0000250}. Cell projection, cilium, photoreceptor outer segment {ECO:0000269PubMed:11773008}. Note=Specifically localized in the connecting cilia of rod and cone photoreceptors.

Disease Associations

Retinitis pigmentosa 1 (RP1) [MIM:180100]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269PubMed:10391211, ECO:0000269PubMed:10484783, ECO:0000269PubMed:11095597, ECO:0000269PubMed:15863674, ECO:0000269PubMed:15933747, ECO:0000269PubMed:19956407, ECO:0000269PubMed:20664799, ECO:0000269PubMed:22052604, ECO:0000269PubMed:22334370}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Expressed in retina. Not expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney, spleen and pancreas.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008017	microtubule binding

Biological Process

GO:0007601	visual perception
GO:0007603	phototransduction, visible light
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

Cellular Component

GO:0001750	photoreceptor outer segment
GO:0001917	photoreceptor inner segment
GO:0005874	microtubule
GO:0005875	microtubule associated complex
GO:0005929	cilium
GO:0005930	axoneme
GO:0032391	photoreceptor connecting cilium