Guca1b guanylate cyclase activator 1B [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Guca1bprovided by MGI
Official Full Name: guanylate cyclase activator 1Bprovided by MGI
Primary source: MGI:MGI:1194489
See related: Ensembl:ENSMUSG00000023979 AllianceGenome:MGI:1194489
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: GCAP2
Summary: Enables calcium sensitive guanylate cyclase activator activity. Acts upstream of or within phototransduction; regulation of guanylate cyclase activity; and visual perception. Located in photoreceptor outer segment. Is expressed in retina outer nuclear layer. Human ortholog(s) of this gene implicated in retinitis pigmentosa 48. Orthologous to human GUCA1B (guanylate cyclase activator 1B). [provided by Alliance of Genome Resources, Oct 2024]
Expression: Ubiquitous expression in bladder adult (RPKM 1.3), adrenal adult (RPKM 0.7) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 C; 17 23.04 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (47692526..47703892)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (47384694..47392967)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

GCAP neuronal calcium sensor proteins mediate photoreceptor cell death in the rd3 mouse model of LCA12 congenital blindness by involving endoplasmic reticulum stress.
Title: GCAP neuronal calcium sensor proteins mediate photoreceptor cell death in the rd3 mouse model of LCA12 congenital blindness by involving endoplasmic reticulum stress.
conclude that, under normal physiological conditions, GCAP1 dominates the regulation of cGMP synthesis in mouse cones, but if its function becomes compromised, GCAP2 contributes to the regulation of phototransduction and light adaptation of cones
Title: Guanylate cyclase-activating protein 2 contributes to phototransduction and light adaptation in mouse cone photoreceptors.
The GCAP1 and GCAP2 binding site(s) overlaps within the kinase homology and/or dimerization domains of retinal GC1.
Title: Evaluating the role of retinal membrane guanylyl cyclase 1 (RetGC1) domains in binding guanylyl cyclase-activating proteins (GCAPs).
This study identifies a new mechanism governing GCAP2 subcellular distribution in vivo, closely related to disease.
Title: Functional EF-hands in neuronal calcium sensor GCAP2 determine its phosphorylation state and subcellular distribution in vivo, and are essential for photoreceptor cell integrity.
Overexpression of guanylate cyclase activating protein 2 in rod photoreceptors in vivo leads to morphological changes at the synaptic ribbon.
Title: Overexpression of guanylate cyclase activating protein 2 in rod photoreceptors in vivo leads to morphological changes at the synaptic ribbon.
GCAP-activated native retinal membrane (Ret)GC1 and RetGC2 are less sensitive to inhibition by calcium ions in the presence of GCAP1 than GCAP2.
Title: Enzymatic properties and regulation of the native isozymes of retinal membrane guanylyl cyclase (RetGC) from mouse photoreceptors.
GCAP2 is a prime candidate for mediating Ca2+-dependent dynamic changes of synaptic ribbons in photoreceptor synapses
Title: Nicotinamide adenine dinucleotide-dependent binding of the neuronal Ca2+ sensor protein GCAP2 to photoreceptor synaptic ribbons.
Prolonged illumination up-regulates retinal arrestin and Guca1a/b: a novel mechanism for light adaptation.
Title: Prolonged illumination up-regulates arrestin and two guanylate cyclase activating proteins: a novel mechanism for light adaptation.
GCAP2 regulation of guanylyl cyclase activity quickens the recovery of flash and step responses and adjusts the operating range of rods to higher intensities of ambient illumination
Title: A role for GCAP2 in regulating the photoresponse. Guanylyl cyclase activation and rod electrophysiology in GUCA1B knock-out mice.
GCAP functions in intact photoreceptors [review]
Title: Mouse models to study GCAP functions in intact photoreceptors.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IEA Inferred from Electronic Annotation more info
enables calcium sensitive guanylate cyclase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables calcium sensitive guanylate cyclase activator activity	IDA Inferred from Direct Assay more info	PubMed
enables guanylate cyclase regulator activity	IGI Inferred from Genetic Interaction more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within phototransduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within regulation of guanylate cyclase activity	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in visual perception	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cone photoreceptor outer segment	IBA Inferred from Biological aspect of Ancestor more info
located_in cone photoreceptor outer segment	ISO Inferred from Sequence Orthology more info
is_active_in photoreceptor inner segment	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor inner segment	IEA Inferred from Electronic Annotation more info
located_in photoreceptor inner segment	ISO Inferred from Sequence Orthology more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: guanylyl cyclase-activating protein 2

Names: GCAP2 (retina)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_146079.1 → NP_666191.1 guanylyl cyclase-activating protein 2

See identical proteins and their annotated locations for NP_666191.1

Status: VALIDATED

Source sequence(s)

BC031916

Consensus CDS

CCDS28847.1

UniProtKB/Swiss-Prot

Q8VBV8

Related

ENSMUSP00000024774.8, ENSMUST00000024774.14

Conserved Domains (2) summary

COG5126
Location:15 → 175

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

cd00051
Location:57 → 118

EFh; EF-hand, calcium binding motif; A diverse superfamily of calcium sensors and calcium signal modulators; most examples in this alignment model have 2 active canonical EF hands. Ca2+ binding induces a conformational change in the EF-hand motif, leading to ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000083.7 Reference GRCm39 C57BL/6J

Range

47692526..47703892

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036160257.1 → XP_036016150.1 guanylyl cyclase-activating protein 2 isoform X1

UniProtKB/TrEMBL

E9PWU1

Related

ENSMUSP00000126799.2, ENSMUST00000145462.2

Conserved Domains (1) summary

COG5126
Location:15 → 161

FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]