Primary Information |
|---|
| BoMiProt ID | Bomi4947 |
|---|
| Protein Name | Cyclic nucleotide-gated cation channel beta-1 |
|---|
| Organism | Bos taurus |
|---|
| Uniprot ID | Q28181 |
|---|
| Milk Fraction | Whey,MFGM |
|---|
| Ref Sequence ID | NP_001129112.1 |
|---|
| Aminoacid Length | 1394 |
|---|
| Molecular Weight | 155065 |
|---|
| FASTA Sequence |
Download |
|---|
| Gene Name | CNGB1 |
|---|
| Protein Existence Status | reviewed |
|---|
Secondary Information |
|---|
| Presence in other biological fluids/tissue/cells | retinal photoreceptors and olfactory neurons |
|---|
| Protein Function | To ensure the correct localization of the channel in the plasma membrane of the outer segment of photoreceptors and help to modulate the channel activity.role in visual and olfactory signal transduction. downstream mediator of cAMP signaling.240-kDa β subunit of the rod photoreceptor cyclic nucleotide-gated ion channel. |
|---|
| Biochemical Properties | They function as tetramers composed of α and β subunits. containing a long cytosolic N-terminus (glutamic acid-rich protein [GARP]) domain and a channel domain, which includes a cyclic nucleotide-binding domain (CNBD). |
|---|
| Significance in milk | play a central role in signal transduction |
|---|
| Additional Comments | Disease-causing sequence variants in CNGB1 lead to autosomal recessive rod-cone dystrophy/retinitis pigmentosa (RP) |
|---|
| Linking IDs | Bomi4947 |
|---|
| Bibliography | Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. CNGB1-related rod-cone dystrophy: A mutation review and update. Hum Mutat. 2021 Jun;42(6):641-666. doi: 10.1002/humu.24205. Epub 2021 May 16. PMID: 33847019; PMCID: PMC8218941. |
|---|
| Presence in other biological fluids/tissue/cells | retinal photoreceptors and olfactory neurons |
|---|
| Protein Function | To ensure the correct localization of the channel in the plasma membrane of the outer segment of photoreceptors and help to modulate the channel activity.role in visual and olfactory signal transduction. downstream mediator of cAMP signaling.240-kDa β subunit of the rod photoreceptor cyclic nucleotide-gated ion channel. |
|---|
| Biochemical Properties | They function as tetramers composed of α and β subunits. containing a long cytosolic N-terminus (glutamic acid-rich protein [GARP]) domain and a channel domain, which includes a cyclic nucleotide-binding domain (CNBD). |
|---|
| Significance in milk | play a central role in signal transduction |
|---|
Site(s) of PTM(s)
N-glycosylation,
O-glycosylation,
Phosphorylation
| na |
|---|
| Predicted Disorder Regions | 1-664, 1271-1393 |
|---|
| DisProt Annotation | |
|---|
| TM Helix Prediction | 2TMHs; (770-788), (801-823) |
|---|
| Additional Comments | Disease-causing sequence variants in CNGB1 lead to autosomal recessive rod-cone dystrophy/retinitis pigmentosa (RP) |
|---|
| Linking IDs | |
|---|
| Bibliography | Nassisi M, Smirnov VM, Solis Hernandez C, Mohand-Saïd S, Condroyer C, Antonio A, Kühlewein L, Kempf M, Kohl S, Wissinger B, Nasser F, Ragi SD, Wang NK, Sparrow JR, Greenstein VC, Michalakis S, Mahroo OA, Ba-Abbad R, Michaelides M, Webster AR, Degli Esposti S, Saffren B, Capasso J, Levin A, Hauswirth WW, Dhaenens CM, Defoort-Dhellemmes S, Tsang SH, Zrenner E, Sahel JA, Petersen-Jones SM, Zeitz C, Audo I. CNGB1-related rod-cone dystrophy: A mutation review and update. Hum Mutat. 2021 Jun;42(6):641-666. doi: 10.1002/humu.24205. Epub 2021 May 16. PMID: 33847019; PMCID: PMC8218941. |
|---|
