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GUCA1B guanylate cyclase activator 1B [ Homo sapiens (human) ]

Gene ID: 2979, updated on 2-Jun-2018
Official Symbol
GUCA1Bprovided by HGNC
Official Full Name
guanylate cyclase activator 1Bprovided by HGNC
Primary source
HGNC:HGNC:4679
See related
Ensembl:ENSG00000112599 MIM:602275; Vega:OTTHUMG00000014697
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
RP48; GCAP2; GUCA2
Summary
The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. [provided by RefSeq, Nov 2009]
Expression
Ubiquitous expression in skin (RPKM 1.1), testis (RPKM 0.8) and 24 other tissues See more
Orthologs
See GUCA1B in Genome Data Viewer
Location:
6p21.1
Exon count:
4
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (42183284..42194956, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (42151022..42162694, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene chromosome 6 open reading frame 132 Neighboring gene guanylate cyclase activator 1A Neighboring gene uncharacterized LOC105375061 Neighboring gene mitochondrial ribosomal protein S10 Neighboring gene transcriptional regulating factor 1

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • 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
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • DKFZp686E1183

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
calcium sensitive guanylate cyclase activator activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
body fluid secretion TAS
Traceable Author Statement
more info
PubMed 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
phototransduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of guanylate cyclase activity IEA
Inferred from Electronic Annotation
more info
 
receptor guanylyl cyclase signaling pathway TAS
Traceable Author Statement
more info
PubMed 
regulation of rhodopsin mediated signaling pathway TAS
Traceable Author Statement
more info
 
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
 
Preferred Names
guanylyl cyclase-activating protein 2
Names
GCAP 2
guanylate cyclase activator 1B (retina)
guanylate cyclase-activating protein, photoreceptor 2

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_016216.1 RefSeqGene

    Range
    5001..16673
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_002098.5NP_002089.4  guanylyl cyclase-activating protein 2

    See identical proteins and their annotated locations for NP_002089.4

    Status: REVIEWED

    Source sequence(s)
    AL096814, BQ636025, BX537393
    Consensus CDS
    CCDS4865.1
    UniProtKB/Swiss-Prot
    Q9UMX6
    UniProtKB/TrEMBL
    Q7Z3V9
    Related
    ENSP00000230361.3, OTTHUMP00000016398, ENST00000230361.3, OTTHUMT00000040550
    Conserved Domains (1) summary
    COG5126
    Location:20174
    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
    42183284..42194956 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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