Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q8BRE0

Entry ID Method Resolution Chain Position Source
AF-Q8BRE0-F1 Predicted AlphaFoldDB

10 variants for Q8BRE0

Variant ID(s) Position Change Description Diseaes Association Provenance
rs1133482505 12 T>I No EVA
rs3388522766 24 M>K No EVA
rs3391169339 42 R>PGRV* No EVA
rs3388525762 52 R>M No EVA
rs3388521289 134 E>D No EVA
rs3388520763 147 R>C No EVA
rs3388521368 165 D>Y No EVA
rs3388526935 172 D>H No EVA
rs3388520704 195 D>H No EVA
rs3388526309 196 D>S No EVA

1 associated diseases with Q8BRE0

Without disease ID

No regional properties for Q8BRE0

Type Name Position InterPro Accession
No domain, repeats, and functional sites for Q8BRE0

Functions

Description
EC Number
Subcellular Localization
  • Cell projection, cilium, photoreceptor outer segment
  • Photoreceptor inner segment
  • Endosome
  • Nucleus
  • Cytoplasm
  • Cytoplasm, perinuclear region
  • 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 (PubMed:29515371)
  • Strong dot-like perinuclear staining in the epithelial cells (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

8 GO annotations of cellular component

Name Definition
cone photoreceptor outer segment The outer segment of a vertebrate cone photoreceptor that contains membrane discs that are contiguous with the ciliary membrane and containing opsin photoreceptor proteins.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
endosome A vacuole to which materials ingested by endocytosis are delivered.
nucleus A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
perinuclear region of cytoplasm Cytoplasm situated near, or occurring around, the nucleus.
photoreceptor inner segment The inner segment of a vertebrate photoreceptor containing mitochondria, ribosomes and membranes where opsin molecules are assembled and passed to be part of the outer segment discs.
photoreceptor outer segment The outer segment of a vertebrate photoreceptor that contains a stack of membrane discs embedded with photoreceptor proteins.
rod photoreceptor outer segment The outer segment of a vertebrate rod photoreceptor that contains sealed membrane discs that are not connected to the ciliary membrane and containing rhodopsin photoreceptor proteins.

No GO annotations of molecular function

Name Definition
No GO annotations for molecular function

5 GO annotations of biological process

Name Definition
negative regulation of guanylate cyclase activity Any process that stops, prevents, or reduces the frequency, rate or extent of guanylate cyclase activity.
protein transport The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
response to stimulus Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus. The process begins with detection of the stimulus and ends with a change in state or activity or the cell or organism.
retina development in camera-type eye The process whose specific outcome is the progression of the retina over time, from its formation to the mature structure. The retina is the innermost layer or coating at the back of the eyeball, which is sensitive to light and in which the optic nerve terminates.
visual perception The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

1 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q7Z3Z2 RD3 Protein RD3 Homo sapiens (Human) PR
10 20 30 40 50 60
MSLIPWLRWN DTPPRLSART PAEMVLETLM MELAGQMREV ERQQRERRSA VRKICTGVDY
70 80 90 100 110 120
SWLANTPRPT YDISPGERLQ LEDVCAKIHP SYCGPAILRF RQLLAEREPE VQEVARLFRS
130 140 150 160 170 180
VLQEALEKMK QEEEAHKLTR QWSLRPRGSL SSFKTRARIA PFASDIRTIS EDVERDAPPP
190
PRTWSMPEFR APQAD