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Guca1a Gene Detail
Summary
  • Symbol
    Guca1a
  • Name
    guanylate cyclase activator 1a (retina)
  • Synonyms
    Guca1, mGCAP1
  • Feature Type
    protein coding gene
  • IDs
    MGI:102770
    NCBI Gene: 14913
  • Gene Overview
    MyGene.info: GUCA1A
Location & Maps
more
  • Sequence Map
    Chr17:47394560-47400584 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      6025 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    GUCA1A, guanylate cyclase activator 1A
  • Vertebrate Orthologs
    11
  • Human Ortholog
    GUCA1A, guanylate cyclase activator 1A
    Orthology source: HomoloGene
  • Synonyms
    C6orf131, COD3, CORD14, GCAP, GCAP1, GUCA, GUCA1
  • Links
    NCBI Gene ID: 2978
    neXtProt AC: NX_P43080

  • Chr Location
    6p21.1; chr6:42155386-42180056 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 353
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: GUCA1A
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Guca1a mouse models; 1 with human GUCA1A associations

Human Disease Mouse Models
       Cone Dystrophy 3; COD3   OMIM: 602093 View 5 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    13 phenotypes from 5 alleles in 4 genetic backgrounds
    8 phenotypes from multigenic genotypes
    25 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    8
  • Targeted
    5
  • Transgenic
    3
  • Incidental Mutations
    APF , CvDC
Mice heterozygous or homozygous for a knock-in allele exhibit photoreceptor degeneration and loss of cone and rod function.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000023982 Ensembl Gene Model | MGI Sequence Detail 6025 C57BL/6J ±  kb
transcript ENSMUST00000059348 Ensembl | MGI Sequence Detail 871 Not Applicable  
polypeptide ENSMUSP00000060027 Ensembl | MGI Sequence Detail 202 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    89 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000008343 guanylyl cyclase-activating protein 1
  • InterPro Domains
    IPR018247 EF-Hand 1, calcium-binding site
    IPR002048 EF-hand domain
    IPR011992 EF-hand domain pair
Molecular
Reagents
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  • All nucleic 40
    Genomic 6
    cDNA 33
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-19677
References
more
  • Summaries
    All 52
    Developmental Gene Expression 6
    Diseases 3
    Gene Ontology 8
    Phenotypes 25
  • Earliest
    J:19567 Subbaraya I, et al., Molecular characterization of human and mouse photoreceptor guanylate cyclase-activating protein (GCAP) and chromosomal localization of the human gene. J Biol Chem. 1994 Dec 9;269(49):31080-9
  • Latest
    J:229508 Stockman A, et al., Visual consequences of molecular changes in the guanylate cyclase-activating protein. Invest Ophthalmol Vis Sci. 2014 Mar;55(3):1930-40

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory