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

Gene ID: 2978, updated on 12-Aug-2018

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; Vega:OTTHUMG00000014696
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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Expression
Restricted expression toward testis (RPKM 15.8) See more
Orthologs

Genomic context

See GUCA1A in Genome Data Viewer
Location:
6p21.1
Exon count:
7
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (42155377..42180083)
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 TATA-box binding protein associated factor 8 Neighboring gene chromosome 6 open reading frame 132 Neighboring gene guanylate cyclase activator 1B Neighboring gene mitochondrial ribosomal protein S10

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • Cardiac Hypertrophic Response, organism-specific biosystem (from WikiPathways)
    Cardiac Hypertrophic Response, organism-specific biosystemIntegrated schematic of the more extensively characterized intracellular signal-transduction pathways that coordinate the cardiac hypertrophic response. During development and in response to physiolo...
  • Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
    Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystemTo terminate the single photon response and restore the system to its basal state, the three activated intermediates in phototransduction, rhodopsin (MII), transducin alpha subunit with GTP bound (GN...
  • Phototransduction, organism-specific biosystem (from KEGG)
    Phototransduction, organism-specific biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
  • Phototransduction, conserved biosystem (from KEGG)
    Phototransduction, conserved biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • The phototransduction cascade, organism-specific biosystem (from REACTOME)
    The phototransduction cascade, organism-specific biosystemThe visual pigment (rhodopsin in rods) consists of an 11-cis-retinal (11cRAL) chromophore covalently attached to a GPCR opsin family member via a Schiff base linkage. Upon photon absorption, 11cRAL i...
  • Visual phototransduction, organism-specific biosystem (from REACTOME)
    Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
  • Visual signal transduction: Cones, organism-specific biosystem (from Pathway Interaction Database)
    Visual signal transduction: Cones, organism-specific biosystem
    Visual signal transduction: Cones
  • Visual signal transduction: Rods, organism-specific biosystem (from Pathway Interaction Database)
    Visual signal transduction: Rods, organism-specific biosystem
    Visual signal transduction: Rods

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 ISS
Inferred from Sequence or Structural Similarity
more info
 
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
photoreceptor disc membrane TAS
Traceable Author Statement
more info
 
photoreceptor inner segment IEA
Inferred from Electronic Annotation
more info
 

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
    4972..29678
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000409.4NP_000400.2  guanylyl cyclase-activating protein 1

    See identical proteins and their annotated locations for NP_000400.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the same protein as variants 2 and 3.
    Source sequence(s)
    BC031663, BM717123, DB049592, DB055332
    Consensus CDS
    CCDS4864.1
    UniProtKB/Swiss-Prot
    P43080
    Related
    ENSP00000053469.4, OTTHUMP00000196468, ENST00000053469.8, OTTHUMT00000040546
    Conserved Domains (1) summary
    COG5126
    Location:12163
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  2. NM_001319061.1NP_001305990.1  guanylyl cyclase-activating protein 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AA400590, AK125780, BM717123, DB055332
    Consensus CDS
    CCDS4864.1
    UniProtKB/Swiss-Prot
    P43080
    Related
    ENSP00000377784.1, OTTHUMP00000196466, ENST00000394237.5, OTTHUMT00000316582
    Conserved Domains (1) summary
    COG5126
    Location:12163
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  3. NM_001319062.1NP_001305991.1  guanylyl cyclase-activating protein 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate exon in the 5' UTR compared to variant 1. Variants 1, 2, and 3 encode the same protein.
    Source sequence(s)
    AA400590, AK125780, AK313865, BM717123, DB055332
    Consensus CDS
    CCDS4864.1
    UniProtKB/Swiss-Prot
    P43080
    UniProtKB/TrEMBL
    B2R9P6
    Related
    ENSP00000362049.1, OTTHUMP00000016397, ENST00000372958.1, OTTHUMT00000040549
    Conserved Domains (1) summary
    COG5126
    Location:12163
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    42155377..42180083
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011514537.2XP_011512839.1  guanylyl cyclase-activating protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011512839.1

    UniProtKB/Swiss-Prot
    P43080
    Conserved Domains (1) summary
    COG5126
    Location:12163
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  2. XM_011514539.1XP_011512841.1  guanylyl cyclase-activating protein 1 isoform X1

    See identical proteins and their annotated locations for XP_011512841.1

    UniProtKB/Swiss-Prot
    P43080
    Conserved Domains (1) summary
    COG5126
    Location:12163
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
  3. XM_006715073.3XP_006715136.1  guanylyl cyclase-activating protein 1 isoform X2

    Conserved Domains (2) summary
    cd00051
    Location:1888
    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 ...
    pfam13499
    Location:1987
    EF-hand_7; EF-hand domain pair
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