CNGB1

Protein identityUniProt · HPA

UniProt accession

Q14028

Gene

CNGB1

Ensembl

ENSG00000070729

Chromosome

16

Canonical length

1251 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

Subcellular location

Plasma membrane,Cytosol

OverviewNCBI Gene

In humans, the rod photoreceptor cGMP-gated cation channel helps regulate ion flow into the rod photoreceptor outer segment in response to light-induced alteration of the levels of intracellular cGMP. This channel consists of two subunits, alpha and beta, with the protein encoded by this gene representing the beta subunit. Defects in this gene are a cause of cause of retinitis pigmentosa type 45. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

Canonical amino-acid sequenceUniProt

1251 residues, UniProt reviewed canonical sequence.

>Q14028|CNGB1
     1  MLGWVQRVLP QPPGTPRKTK MQEEEEVEPE PEMEAEVEPE PNPEEAETES ESMPPEESFK
    61  EEEVAVADPS PQETKEAALT STISLRAQGA EISEMNSPSR RVLTWLMKGV EKVIPQPVHS
   121  ITEDPAQILG HGSTGDTGCT DEPNEALEAQ DTRPGLRLLL WLEQNLERVL PQPPKSSEVW
   181  RDEPAVATGA ASDPAPPGRP QEMGPKLQAR ETPSLPTPIP LQPKEEPKEA PAPEPQPGSQ
   241  AQTSSLPPTR DPARLVAWVL HRLEMALPQP VLHGKIGEQE PDSPGICDVQ TISILPGGQV
   301  EPDLVLEEVE PPWEDAHQDV STSPQGTEVV PAYEEENKAV EKMPRELSRI EEEKEDEEEE
   361  EEEEEEEEEE EVTEVLLDSC VVSQVGVGQS EEDGTRPQST SDQKLWEEVG EEAKKEAEEK
   421  AKEEAEEVAE EEAEKEPQDW AETKEEPEAE AEAASSGVPA TKQHPEVQVE DTDADSCPLM
   481  AEENPPSTVL PPPSPAKSDT LIVPSSASGT HRKKLPSEDD EAEELKALSP AESPVVAWSD
   541  PTTPKDTDGQ DRAASTASTN SAIINDRLQE LVKLFKERTE KVKEKLIDPD VTSDEESPKP
   601  SPAKKAPEPA PDTKPAEAEP VEEEHYCDML CCKFKHRPWK KYQFPQSIDP LTNLMYVLWL
   661  FFVVMAWNWN CWLIPVRWAF PYQTPDNIHH WLLMDYLCDL IYFLDITVFQ TRLQFVRGGD
   721  IITDKKDMRN NYLKSRRFKM DLLSLLPLDF LYLKVGVNPL LRLPRCLKYM AFFEFNSRLE
   781  SILSKAYVYR VIRTTAYLLY SLHLNSCLYY WASAYQGLGS THWVYDGVGN SYIRCYYFAV
   841  KTLITIGGLP DPKTLFEIVF QLLNYFTGVF AFSVMIGQMR DVVGAATAGQ TYYRSCMDST
   901  VKYMNFYKIP KSVQNRVKTW YEYTWHSQGM LDESELMVQL PDKMRLDLAI DVNYNIVSKV
   961  ALFQGCDRQM IFDMLKRLRS VVYLPNDYVC KKGEIGREMY IIQAGQVQVL GGPDGKSVLV
  1021  TLKAGSVFGE ISLLAVGGGN RRTANVVAHG FTNLFILDKK DLNEILVHYP ESQKLLRKKA
  1081  RRMLRSNNKP KEEKSVLILP PRAGTPKLFN AALAMTGKMG GKGAKGGKLA HLRARLKELA
  1141  ALEAAAKQQE LVEQAKSSQD VKGEEGSAAP DQHTHPKEAA TDPPAPRTPP EPPGSPPSSP
  1201  PPASLGRPEG EEEGPAEPEE HSVRICMSPG PEPGEQILSV KMPEEREEKA E

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CNGB1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

6

Mean surface accessibility (rSASA)

0.52

Highest tissue expression

557 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CNGB1.

Disease | AllUniProt

Conditions CNGB1 is implicated in, by any mechanism.

• Retinitis pigmentosa 45 (RP45) MIM:613767

Disease | GeneticClinVar

184 pathogenic / likely-pathogenic of 1,467 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Retinitis pigmentosa 45
• Retinitis pigmentosa
• Retinal dystrophy
• Retinal disorder
• CNGB1-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.15

gnomAD pLI

0

gnomAD missense Z

-0.83

DepMap mean gene effect

0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• calcium ion transport
• detection of chemical stimulus involved in sensory perception of smell
• detection of light stimulus involved in visual perception
• G protein-coupled receptor signaling pathway
• membrane depolarization
• monoatomic cation transmembrane transport
• monoatomic cation transport
• olfactory nerve maturation
• photoreceptor cell maintenance
• photoreceptor cell outer segment organization
• phototransduction
• positive regulation of gene expression
• potassium ion transport
• regulation of cytosolic calcium ion concentration
• response to odorant
• retina homeostasis
• sensory perception of smell
• sodium ion transport
• visual perception

Molecular functions

• calcium channel activity
• cAMP binding
• cGMP binding
• intracellularly cAMP-activated cation channel activity
• intracellularly cGMP-activated cation channel activity
• ligand-gated monoatomic ion channel activity
• protein-containing complex binding
• sodium channel activity

Cellular components

• ciliary membrane
• Golgi-associated vesicle membrane
• intracellular cyclic nucleotide activated cation channel complex
• non-motile cilium membrane
• photoreceptor outer segment
• plasma membrane
• rod photoreceptor outer segment
• terminal bouton
• transmembrane transporter complex

Protein domainsUniProt · Pfam · InterPro

• Cyclic nucleotide-binding domain
• Ion transport domain
• RmlC-like jelly roll fold
• Cyclic nucleotide-binding, conserved site
• Cyclic nucleotide-binding domain superfamily
• Cyclic nucleotide-gated cation channel
• Cyclic nucleotide-binding domain
• Ion transport protein

KeywordsUniProt

• Calcium
• Calcium channel
• Calcium transport
• cAMP
• cAMP-binding
• Cell membrane
• Cell projection
• cGMP
• cGMP-binding
• Ion channel
• Ion transport
• Ligand-gated ion channel
• Membrane
• Nucleotide-binding
• Olfaction
• Retinitis pigmentosa
• Sensory transduction
• Sodium
• Sodium channel
• Sodium transport
• Transmembrane
• Transmembrane helix
• Transport
• Vision