GUCA1A guanylate cyclase activator 1A [Homo sapiens (human)] - Gene

Summary

Official Symbol: GUCA1Aprovided by HGNC
Official Full Name: guanylate cyclase activator 1Aprovided by HGNC
Primary source: HGNC:HGNC:4678
See related: Ensembl:ENSG00000048545 MIM:600364; AllianceGenome:HGNC:4678
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: COD3; GCAP; GUCA; GCAP1; GUCA1; CORD14; GCAP-1; GCAP-I; C6orf131
Summary: This gene encodes an enzyme that plays a role in the recovery of retinal photoreceptors from photobleaching. This enzyme promotes the activity of retinal guanylyl cyclase-1 (GC1) at low calcium concentrations and inhibits GC1 at high calcium concentrations. Mutations in this gene can cause cone dystrophy 3 and code-rod dystrophy 14. provided by RefSeq, Jul 2020]
Expression: Restricted expression toward testis (RPKM 15.8) See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (42173364..42180056)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (42001569..42008260)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (42141102..42147794)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Supramolecular complexes of GCAP1: implications for inherited retinal dystrophies.
Title: Supramolecular complexes of GCAP1: implications for inherited retinal dystrophies.
A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.
Title: A Novel GUCA1A Variant Associated with Cone Dystrophy Alters cGMP Signaling in Photoreceptors by Strongly Interacting with and Hyperactivating Retinal Guanylate Cyclase.
Modulation of Guanylate Cyclase Activating Protein 1 (GCAP1) Dimeric Assembly by Ca(2+) or Mg(2+): Hints to Understand Protein Activity.
Title: Modulation of Guanylate Cyclase Activating Protein 1 (GCAP1) Dimeric Assembly by Ca(2+) or Mg(2+): Hints to Understand Protein Activity.
Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa.
Title: Neuronal Calcium Sensor GCAP1 Encoded by GUCA1A Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis Pigmentosa.
Impaired Ca(2+) Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.
Title: Impaired Ca(2+) Sensitivity of a Novel GCAP1 Variant Causes Cone Dystrophy and Leads to Abnormal Synaptic Transmission Between Photoreceptors and Bipolar Cells.
Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A.
Title: Normal GCAPs partly compensate for altered cGMP signaling in retinal dystrophies associated with mutations in GUCA1A.
Missense mutations affecting Ca(2+)-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties.
Title: Missense mutations affecting Ca(2+)-coordination in GCAP1 lead to cone-rod dystrophies by altering protein structural and functional properties.
Constitutive Activation of Guanylate Cyclase by the G86R GCAP1 Variant Is Due to ""Locking"" Cation-pi Interactions that Impair the Activator-to-Inhibitor Structural Transition.
Title: Constitutive Activation of Guanylate Cyclase by the G86R GCAP1 Variant Is Due to "Locking" Cation-π Interactions that Impair the Activator-to-Inhibitor Structural Transition.
Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.
Title: Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies.
The newly discovered missense mutation in GUCA1A (p.D144G) might lead to an imbalance of Ca(2+) and cGMP homeostasis and eventually, cause a significant variation in autosomal dominant cone dystrophy.
Title: Functional characterization of a novel GUCA1A missense mutation (D144G) in autosomal dominant cone dystrophy: A novel pathogenic GUCA1A variant in COD.

Submit: New GeneRIF Correction See all GeneRIFs (38)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cone dystrophy 3 MedGen: C1865869 OMIM: 602093 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH67862 (e-PCR)
- UniSTS:32822

RH47569 (e-PCR)
- UniSTS:72284

WI-9373 (e-PCR)
- UniSTS:39110

Readthrough GUCA1ANB-GUCA1A

Readthrough gene: GUCA1ANB-GUCA1A, Included gene: CIMIP3

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity more info
enables guanylate cyclase regulator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables guanylate cyclase regulator activity	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to calcium ion	ISS Inferred from Sequence or Structural Similarity more info
involved_in phototransduction	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cGMP-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of guanylate cyclase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	NAS Non-traceable Author Statement more info	PubMed
involved_in visual perception	IBA Inferred from Biological aspect of Ancestor more info

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	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor disc membrane	TAS Traceable Author Statement 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

General protein information

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Preferred Names: guanylyl cyclase-activating protein 1

Names: cone dystrophy 3; guanylate cyclase-activating protein, photoreceptor 1; guanylin 1, 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.

Genomic

NG_009938.1 RefSeqGene

Range

22959..29651

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001384910.1 → NP_001371839.1 guanylyl cyclase-activating protein 1

Status: REVIEWED

Source sequence(s)

AL096814

UniProtKB/Swiss-Prot

B3KWT4, P43080, Q7Z6T1, Q9NU14

UniProtKB/TrEMBL

B2R9P6

Related

ENSP00000362049.1, ENST00000372958.2

Conserved Domains (1) summary

COG5126
Location:12 → 163

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