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GUCA1C guanylate cyclase activator 1C [ Homo sapiens (human) ]

Gene ID: 9626, updated on 5-Mar-2024

Summary

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Official Symbol
GUCA1Cprovided by HGNC
Official Full Name
guanylate cyclase activator 1Cprovided by HGNC
Primary source
HGNC:HGNC:4680
See related
Ensembl:ENSG00000138472 MIM:605128; AllianceGenome:HGNC:4680
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GCAP3
Summary
Predicted to enable calcium ion binding activity and calcium sensitive guanylate cyclase activator activity. Predicted to be involved in signal transduction. Predicted to be located in photoreceptor disc membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in pancreas (RPKM 3.4), heart (RPKM 3.1) and 2 other tissues See more
Orthologs
all
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Genomic context

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See GUCA1C in Genome Data Viewer
Location:
3q13.13
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (108907792..108955195, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (111628032..111675446, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (108626639..108672726, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene resistin like beta Neighboring gene T cell receptor associated transmembrane adaptor 1 Neighboring gene MORC family CW-type zinc finger 1 Neighboring gene small nucleolar RNA U3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20223 Neighboring gene MORC1 antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa. Avesani A, et al. Int J Mol Sci, 2022 Mar 17. PMID 35328663, Free PMC Article
  2. The crystal structure of GCAP3 suggests molecular mechanism of GCAP-linked cone dystrophies. Stephen R, et al. J Mol Biol, 2006 Jun 2. PMID 16626734, Free PMC Article
  3. Molecular characterization of a third member of the guanylyl cyclase-activating protein subfamily. Haeseleer F, et al. J Biol Chem, 1999 Mar 5. PMID 10037746
  4. Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish. Morales-Cámara S, et al. Genes (Basel), 2020 May 14. PMID 32422965, Free PMC Article
  5. Characterization of retinal guanylate cyclase-activating protein 3 (GCAP3) from zebrafish to man. Imanishi Y, et al. Eur J Neurosci, 2002 Jan. PMID 11860507, Free PMC Article

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.
    Title: Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.
  2. Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish.
    Title: Role of GUCA1C in Primary Congenital Glaucoma and in the Retina: Functional Evaluation in Zebrafish.
  3. Results report the crystal structure of unmyristoylated human guanylate cyclase-activating protein 3 (GCAP3) with calcium bound.
    Title: The crystal structure of GCAP3 suggests molecular mechanism of GCAP-linked cone dystrophies.
Submit: New GeneRIF Correction

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

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2021-02-02)

ClinGen Genome Curation Page
Haploinsufficency

Dosage sensitivity unlikely (Last evaluated 2021-02-02)

ClinGen Genome Curation PagePubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC120158, MGC120159

Gene Ontology Provided by GOA

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
involved_in visual perception TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in photoreceptor disc membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
guanylyl cyclase-activating protein 3
Names
GCAP 3

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)

  1. NM_001363884.1 → NP_001350813.1  guanylyl cyclase-activating protein 3 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC016948, AC080135
    Consensus CDS
    CCDS87118.1
    UniProtKB/TrEMBL
    C9J7M7, C9JNI2
    Related
    ENSP00000377535.3, ENST00000393963.7
    Conserved Domains (1) summary
    cl25352
    Location:15 → 144
    EFh_PEF; The penta-EF hand (PEF) family

  2. NM_005459.4 → NP_005450.3  guanylyl cyclase-activating protein 3 isoform 1

    See identical proteins and their annotated locations for NP_005450.3

    Status: VALIDATED

    Source sequence(s)
    AC016948, AC080135, AF110002, AF110003, AV732101, C20850
    Consensus CDS
    CCDS2954.1
    UniProtKB/Swiss-Prot
    O95843, O95844, Q9UNM0
    Related
    ENSP00000261047.3, ENST00000261047.8
    Conserved Domains (2) summary
    COG5126
    Location:15 → 165
    FRQ1; Ca2+-binding protein, EF-hand superfamily [Signal transduction mechanisms]
    cd00051
    Location:92 → 160
    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 ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    108907792..108955195 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011513334.3 → XP_011511636.1  guanylyl cyclase-activating protein 3 isoform X1

    Conserved Domains (2) summary
    cd00051
    Location:8 → 76
    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:9 → 75
    EF-hand_7; EF-hand domain pair

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    111628032..111675446 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054348479.1 → XP_054204454.1  guanylyl cyclase-activating protein 3 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95843.3 GenPept UniProtKB/Swiss-Prot:O95843

Gene LinkOut

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