Search by BoMiProt ID - Bomi4947


Primary Information

BoMiProt ID Bomi4947
Protein Name Cyclic nucleotide-gated cation channel beta-1
Organism Bos taurus
Uniprot IdQ28181
Milk FractionWhey,MFGM
Ref Sequence Id NP_001129112.1
Aminoacid Length 1394
Molecular Weight 155065
Fasta Sequence https://www.uniprot.org/uniprot/Q28181.fasta
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.