NucEnvDB

NucEnvDB

A database of Nuclear Envelope Proteins and their Interactions

Protein RD3 - Homo sapiens - NucEnvDB

Protein RD3 (Homo sapiens)

FASTA TEXT XML

Subcellular Location Biology & Function Disease Associations Interactions Cross-References

General Information

Protein Information
Protein Name	Protein RD3
Accession Code	Q7Z3Z2
Gene	RD3
Organism	Homo sapiens \| Human (Taxonomy: 9606)
Part of Reference Proteome?	Yes
Sequence (Length: 195)
MSLISWLRWNEAPSRLSTRSPAEMVLETLMMELTGQMREAERQQRERSNAVRKVCTGVDYSWLASTPRSTYDLSPIERLQ LEDVCVKIHPSYCGPAILRFRQLLAEQEPEVQEVSQLFRSVLQEVLERMKQEEEAHKLTRQWSLRPRGSLATFKTRARIS PFASDIRTISEDVERDTPPPLRSWSMPEFRAPKAD

Structure Viewer (PDB: 6DRF)

Subcellular Location

Description
Cell projection, cilium, photoreceptor outer segment {By SimilarityUniProtKB:Q8BRE0}. Photoreceptor inner segment {By SimilarityUniProtKB:Q8BRE0}. Endosome {By SimilarityUniProtKB:Q8BRE0}. Nucleus {ECO:0000269\|PubMed:26100624, ECO:0000269\|PubMed:29030614}. Cytoplasm {ECO:0000269\|PubMed:26100624, ECO:0000269\|PubMed:29030614}. Cytoplasm, perinuclear region {ECO:0000269\|PubMed:29030614}. Note=Colocalizes with GUCY2E and GUCY2F in rods and cones photoreceptors. Colocalizes with GUK1 in photoreceptor inner segments and to a lesser extent in the outer plexiform layer (By similarity). Strong dot-like perinuclear staining in the epithelial cells (PubMed:29030614). {By SimilarityUniProtKB:Q8BRE0, ECO:0000269\|PubMed:29030614}.
Position in the Nuclear Envelope
Location	Location ID	Description
Perinuclear Region	SL-0198	The perinuclear region is the cytoplasmic region just around the nucleus.
Membrane Topology
Topology	Source	Annotation Type
Unknown	UniProt	Sequence Analysis
Assigned Ontology terms

Cellular Component	Cone Photoreceptor Outer Segment (GO:0120199) Cytoplasm (GO:0005737) Endosome (GO:0005768) Nucleus (GO:0005634) Perinuclear Region Of Cytoplasm (GO:0048471) Photoreceptor Inner Segment (GO:0001917) Photoreceptor Outer Segment (GO:0001750) Rod Photoreceptor Outer Segment (GO:0120200)

Biology & Function

Description
Plays a critical role in the regulation of enzymes involved in nucleotide cycle in photoreceptors (PubMed:29515371, PubMed:21928830, PubMed:21078983, PubMed:27471269, PubMed:30559291). Inhibits the basal catalytic activity and the GCAP-stimulated activity of GUCY2D and GUCY2F, two retinal guanylyl cyclases involved in the production of cGMP in photoreceptors (PubMed:21928830, PubMed:27471269, PubMed:29515371, PubMed:30559291). Involved in the transport of GUCY2D and GUCY2F to their target sites in the photoreceptor outer segment (PubMed:21078983). Up-regulates the activity of GUK1, a kinase that also plays an essential role for recycling GMP and indirectly, cGMP (PubMed:29515371). Plays an important role for the survival of rods and cones in the retina (By similarity). {By SimilarityUniProtKB:Q8BRE0, Experimental EvidencePubMed:21078983, Experimental EvidencePubMed:21928830, Experimental EvidencePubMed:27471269, Experimental EvidencePubMed:29515371, Experimental EvidencePubMed:30559291}.
Assigned Ontology terms

Biological Process	Negative Regulation Of Guanylate Cyclase Activity (GO:0031283) Protein Transport (GO:0015031) Response To Stimulus (GO:0050896) Retina Development In Camera-Type Eye (GO:0060041) Visual Perception (GO:0007601)
Molecular Function

Disease associations

Description
Leber congenital amaurosis 12 (LCA12) [MIM:610612]: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. {Experimental EvidencePubMed:17186464}. Note=The disease is caused by variants affecting the gene represented in this entry.
Database Associations
OMIM	180040 610612
DisGeNET	343035

Protein-Protein Interactions

Interactions with Nuclear Envelope proteins (1 interactors)

Partner (NucEnvDB)		IntAct	Confidence score
Q9NPB3	Calcium-binding protein 2	EBI-24796266	0.56
Interactions with other proteins (9 interactors)

Partner (UniProt)		IntAct	Confidence score
A2ABF9	Histone-lysine N-methyltransferase EHMT2	EBI-10257502	0.56
Q14232	Translation initiation factor eIF-2B subunit alpha (eIF-2B GDP-GTP exchange factor subunit alpha)	EBI-10257514	0.78
Q96HA8	Protein N-terminal glutamine amidohydrolase (EC 3.5.1.122) (Protein NH2-terminal glutamine deamidase) (N-terminal Gln amidase) (Nt(Q)-amidase) (WDYHV motif-containing protein 1)	EBI-24753164	0.56
Q96KQ7	Histone-lysine N-methyltransferase EHMT2 (EC 2.1.1.-) (EC 2.1.1.367) (Euchromatic histone-lysine N-methyltransferase 2) (HLA-B-associated transcript 8) (Histone H3-K9 methyltransferase 3) (H3-K9-HMTase 3) (Lysine N-methyltransferase 1C) (Protein G9a)	EBI-24461107	0.56
Q8NFP9	Neurobeachin (Lysosomal-trafficking regulator 2) (Protein BCL8B)	EBI-21854615	0.35
Q7L592	Protein arginine methyltransferase NDUFAF7, mitochondrial (EC 2.1.1.320) (NADH dehydrogenase [ubiquinone] complex I, assembly factor 7) (Protein midA homolog)	EBI-21854615	0.35
P50851	Lipopolysaccharide-responsive and beige-like anchor protein (Beige-like protein) (CDC4-like protein)	EBI-21854615	0.35
P19086	Guanine nucleotide-binding protein G(z) subunit alpha (G(x) alpha chain) (Gz-alpha)	EBI-21854615	0.35
Q02846	Retinal guanylyl cyclase 1 (RETGC-1) (EC 4.6.1.2) (CG-E) (Guanylate cyclase 2D, retinal) (Rod outer segment membrane guanylate cyclase) (ROS-GC)	EBI-20719207	0.46

Cross-References

Database	Links
UNIPROT	Q7Z3Z2 A8K595
PDB	6DRF
Pfam	PF14473
OMIM	180040 610612
DisGeNET	343035

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