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FLASH GENE

Symbol

CNGB1

contributors: mct - updated : 09-05-2018

HGNC name	cyclic nucleotide gated channel beta 1
HGNC id	2151

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARRP16 retinitis pigmentosa autosomal recessive, 16
Location	16q13      Physical location : 57.916.243 - 58.005.020
Synonym name	cyclic nucleotide-gated cation channel 4
	glutamic acid rich protein
	CNG channel 4
	cyclic nucleotide gated channel (photoreceptor), cGMP gated 3
	(gamma)-like
Synonym symbol(s)	CNCG2, CNCG3L, GAR1, GARP, RCN2, CNG4, CNGB1B, RCNC2, RCNCb, RCNCbeta, RP45

DNA

TYPE	functioning gene
STRUCTURE	88.78 kb     33 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001297 33 - 5663 NP_001288 139.6 1251 - 2009 19710307 CNGB1 NM_001135639 13 - 1648 NP_001129111 32.5 299 - 2009 19710307 GARP2/CNCG3L, CNGB1b transcript unit from the N terminus of CNGB1 contains two putative PACS1 binding sites, which are phosphorylated by the serine/threonine protein kinase, CSNK2A1 NM_001286130 33 - 5645 NP_001273059 - 1245 - 2009 19710307

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Olfactory olfactory bulb         Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)     Epithelial sensory visual outer nuclear layer

cells

System Cell Pubmed Species Stage Rna symbol smell nose Visual rod photoreceptor

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal cytoplasmic binding site for calmodulin, and N terminus of CNGB1 and soluble GARPs act as molecular gate keepers that control the activation of heteromeric rod CNG channels
	six transmembrane segments
	a pore domain between TM5 and TM6
	a cytoplasmic terminal tail
	the last 28 AA of CNGB1 harbor a motif required for the proper targeting of this subunit to rod photoreceptor outer segments
	a C terminal comprising the cGMP binding site

secondary structure

two subunits alpha (63KD) and beta (240KD)

mono polymer

heteromer , tetramer

HOMOLOGY

interspecies

homolog to rattus cngb1

Homologene

FAMILY

cyclic nucleotide-gated cation channel family

CATEGORY

receptor membrane , transport channel

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,Golgi

basic FUNCTION	cyclic guanine nucleotide gated channel (cGMP) rod photoreceptor
	mediating Ca2-calmodulin modulation
	having a dual function; first, it endows the olfactory CNG channel with a variety of biophysical properties tailored to the specific requirements of olfactory transduction, and second, together with the CNGA4 subunit, is needed for ciliary targeting of the olfactory CNG channel
	having a pivotal role in the degenerative process

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	small molecule transport

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

constituent of 240kDa channel

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ARRP16

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neurosensorial visual retina modulation of rod CNGB1 channel activity is a most promising target for the treatment in retinal degenerations with elevated cellular levels of cGMP

ANIMAL & CELL MODELS

treated by gene therapy CNGB1-/- mice gained the ability to navigate using information provided by the rod visual system