Guca1a guanylate cyclase activator 1a (retina) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Guca1aprovided by MGI
Official Full Name: guanylate cyclase activator 1a (retina)provided by MGI
Primary source: MGI:MGI:102770
See related: Ensembl:ENSMUSG00000023982 AllianceGenome:MGI:102770
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: GC-A; Gcap1; Guca1; mGCAP1
Summary: This gene encodes a calcium-binding photoreceptor protein. The encoded protein may be involved in modulation of guanylyl cyclase activity, and in turn, the mammalian cone phototransduction cascade. Disruption of this gene results in the retinal degeneration associated with cone dystrophy. [provided by RefSeq, Dec 2015]
Expression: Broad expression in testis adult (RPKM 12.3), adrenal adult (RPKM 2.0) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 C; 17 23.07 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (47705482..47724439, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (47394557..47413514, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: 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).
Direct association between RD3 and GCAP1 is important for GC1 targeting.
Title: Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1.
The wild type and mutants of GCAP1 displayed large differences in Ca(2+)-binding and regulation and preserved an intact secondary and tertiary structure with a significant rearrangement of the aromatic residues upon binding of Ca(2+).
Title: Impact of cone dystrophy-related mutations in GCAP1 on a kinetic model of phototransduction.
GCAP1 is the 'first-response' sensor protein that stimulates retinal membrane guanylyl cyclase early in the rod photoresponse.
Title: Enzymatic relay mechanism stimulates cyclic GMP synthesis in rod photoresponse: biochemical and physiological study in guanylyl cyclase activating protein 1 knockout mice.
results argue that there must be a cellular mechanism that limits GCAP1 access to RetGC2 and makes RetGC1 isozyme a preferential target for the disease-causing GCAP1 mutants.
Title: Retinal guanylyl cyclase isozyme 1 is the preferential in vivo target for constitutively active GCAP1 mutants causing congenital degeneration of photoreceptors.
Recombinant Gcap14 protein cosedimented with pure microtubules, indicating a direct binding between the two
Title: The murine Gcap14 gene encodes a novel microtubule binding and bundling protein.
Calcium-myristoyl Tug is a new mechanism for intramolecular tuning of calcium sensitivity and target enzyme interaction for guanylyl cyclase-activating protein 1
Title: Calcium-myristoyl Tug is a new mechanism for intramolecular tuning of calcium sensitivity and target enzyme interaction for guanylyl cyclase-activating protein 1: dynamic connection between N-fatty acyl group and EF-hand controls calcium sensitivity.
Stimulation by GCAP increases the maximal velocity (Vmax) for retinal guanylyl cyclase (RetGC1) activation up to 20-fold in mouse photoreceptor outer segment.
Title: Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins.

Submit: New GeneRIF Correction See all GeneRIFs (16)

Variation

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Alleles

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

Targeted (3) 1 citation
Endonuclease-mediated (1)

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 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
enables guanylate cyclase regulator activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within phototransduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of cGMP-mediated signaling	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of guanylate cyclase activity	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within regulation of guanylate cyclase activity	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation 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
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cone photoreceptor outer segment	IBA Inferred from Biological aspect of Ancestor more info
located_in cone photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in cone photoreceptor outer segment	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
is_active_in photoreceptor inner segment	IBA Inferred from Biological aspect of Ancestor more info
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
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	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: guanylyl cyclase-activating protein 1

Names: GCAP 1

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_008189.3 → NP_032215.2 guanylyl cyclase-activating protein 1

See identical proteins and their annotated locations for NP_032215.2

Status: REVIEWED

Source sequence(s)

AC112683, BC026834, BE954739

Consensus CDS

CCDS28848.1

UniProtKB/Swiss-Prot

P43081, Q8R0H3

Related

ENSMUSP00000060027.8, ENSMUST00000059348.9

Conserved Domains (1) summary

COG5126
Location:12 → 163

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

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

47705482..47724439 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011246296.3 → XP_011244598.1 guanylyl cyclase-activating protein 1 isoform X1

See identical proteins and their annotated locations for XP_011244598.1

UniProtKB/Swiss-Prot

P43081, Q8R0H3

Conserved Domains (1) summary

COG5126
Location:12 → 163

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