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

Gene ID: 2978, updated on 24-Nov-2020

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
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; 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

Genomic context

See GUCA1A in Genome Data Viewer
Location:
6p21.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (42173364..42180056)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42123144..42147794)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene chromosome 6 open reading frame 132 Neighboring gene GUCA1ANB-GUCA1A readthrough Neighboring gene GUCA1A neighbor Neighboring gene guanylate cyclase activator 1B Neighboring gene CRISPRi-validated cis-regulatory element chr6.2919

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Readthrough LOC118142757

Readthrough gene: LOC118142757, Included gene: GUCA1ANB

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium sensitive guanylate cyclase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
guanylate cyclase regulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
guanylate cyclase regulator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to calcium ion ISS
Inferred from Sequence or Structural Similarity
more info
 
phototransduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cGMP-mediated signaling IEA
Inferred from Electronic Annotation
more info
 
positive regulation of guanylate cyclase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
signal transduction NAS
Non-traceable Author Statement
more info
PubMed 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cone photoreceptor outer segment IDA
Inferred from Direct Assay
more info
PubMed 
photoreceptor disc membrane TAS
Traceable Author Statement
more info
 
photoreceptor inner segment IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
guanylyl cyclase-activating protein 1
Names
cone dystrophy 3
guanylate cyclase-activating protein, photoreceptor 1
guanylin 1, retina

NCBI Reference Sequences (RefSeq)

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

  1. NG_009938.1 RefSeqGene

    Range
    22959..29651
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AL096814
    Related
    ENSP00000362049.1, ENST00000372958.1

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    42173364..42180056
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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