GUCA1B

Protein-coding gene in the species Homo sapiens
GUCA1B
Identifiers
AliasesGUCA1B, GCAP2, GUCA2, RP48, guanylate cyclase activator 1B, GCAP 2
External IDsOMIM: 602275; MGI: 1194489; HomoloGene: 1586; GeneCards: GUCA1B; OMA:GUCA1B - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for GUCA1B
Genomic location for GUCA1B
Band6p21.1Start42,183,284 bp[1]
End42,194,956 bp[1]
Gene location (Mouse)
Chromosome 17 (mouse)
Chr.Chromosome 17 (mouse)[2]
Chromosome 17 (mouse)
Genomic location for GUCA1B
Genomic location for GUCA1B
Band17|17 CStart47,696,318 bp[2]
End47,703,892 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • testicle

  • cerebellar hemisphere

  • granulocyte

  • right hemisphere of cerebellum

  • tibialis anterior muscle

  • gastrocnemius muscle

  • stromal cell of endometrium

  • tibial nerve

  • trabecular bone

  • right uterine tube
Top expressed in
  • layer of retina

  • neural layer of retina

  • embryo

  • embryo

  • quadriceps femoris muscle

  • outer nuclear layer

  • islet of Langerhans

  • bone marrow

  • zone of skin

  • lens
More reference expression data
BioGPS
More reference expression data
Gene ontology
Molecular function
  • calcium ion binding
  • guanylate cyclase regulator activity
  • metal ion binding
  • calcium sensitive guanylate cyclase activator activity
Cellular component
  • photoreceptor inner segment
  • membrane
  • plasma membrane
  • photoreceptor outer segment
  • photoreceptor disc membrane
Biological process
  • phototransduction
  • response to stimulus
  • cell-cell signaling
  • positive regulation of guanylate cyclase activity
  • regulation of guanylate cyclase activity
  • receptor guanylyl cyclase signaling pathway
  • body fluid secretion
  • visual perception
  • regulation of rhodopsin mediated signaling pathway
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

2979

107477

Ensembl

ENSG00000112599

ENSMUSG00000023979

UniProt

Q9UMX6

Q8VBV8

RefSeq (mRNA)

NM_002098

NM_146079

RefSeq (protein)

NP_002089

NP_666191

Location (UCSC)Chr 6: 42.18 – 42.19 MbChr 17: 47.7 – 47.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Guanylyl cyclase-activating protein 2 is an enzyme that in humans is encoded by the GUCA1B gene.[5][6] Alternative names:[7]

Biological Role

Guanylyl cyclase-activating protein 2 is proposed to play a role in dark adaptation.[8] Under scotopic conditions, calcium ions bind to three putative EF-hand calcium binding motifs which reduces the protein's ability to stimulate guanylyl cyclase.[8] This contributes to the maintained responsiveness of rod photoreceptors through hyperpolarizing them during sustained darkness.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112599 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000023979 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Surguchov A, Bronson JD, Banerjee P, Knowles JA, Ruiz C, Subbaraya I, et al. (February 1997). "The human GCAP1 and GCAP2 genes are arranged in a tail-to-tail array on the short arm of chromosome 6 (p21.1)". Genomics. 39 (3): 312–22. doi:10.1006/geno.1996.4513. PMID 9119368.
  6. ^ "Entrez Gene: GUCA1B guanylate cyclase activator 1B (retina)".
  7. ^ "GUCA1B - Guanylyl cyclase-activating protein 2 - Bos taurus (Bovine) - GUCA1B gene & protein". www.uniprot.org. Retrieved 2017-10-09.
  8. ^ a b Gorczyca WA, Gray-Keller MP, Detwiler PB, Palczewski K (April 1994). "Purification and physiological evaluation of a guanylate cyclase activating protein from retinal rods". Proceedings of the National Academy of Sciences of the United States of America. 91 (9): 4014–8. Bibcode:1994PNAS...91.4014G. doi:10.1073/pnas.91.9.4014. PMC 43713. PMID 7909609.

Further reading

  • Wiegand RC, Kato J, Huang MD, Fok KF, Kachur JF, Currie MG (October 1992). "Human guanylin: cDNA isolation, structure, and activity". FEBS Letters. 311 (2): 150–4. doi:10.1016/0014-5793(92)81387-2. PMID 1327879. S2CID 39983596.
  • de Sauvage FJ, Keshav S, Kuang WJ, Gillett N, Henzel W, Goeddel DV (October 1992). "Precursor structure, expression, and tissue distribution of human guanylin". Proceedings of the National Academy of Sciences of the United States of America. 89 (19): 9089–93. Bibcode:1992PNAS...89.9089D. doi:10.1073/pnas.89.19.9089. PMC 50070. PMID 1409606.
  • Otto-Bruc A, Fariss RN, Haeseleer F, Huang J, Buczyłko J, Surgucheva I, et al. (April 1997). "Localization of guanylate cyclase-activating protein 2 in mammalian retinas". Proceedings of the National Academy of Sciences of the United States of America. 94 (9): 4727–32. Bibcode:1997PNAS...94.4727O. doi:10.1073/pnas.94.9.4727. PMC 20792. PMID 9114059.
  • Laura RP, Hurley JB (August 1998). "The kinase homology domain of retinal guanylyl cyclases 1 and 2 specifies the affinity and cooperativity of interaction with guanylyl cyclase activating protein-2". Biochemistry. 37 (32): 11264–71. doi:10.1021/bi9809674. PMID 9698373.
  • Sokal I, Haeseleer F, Arendt A, Adman ET, Hargrave PA, Palczewski K (February 1999). "Identification of a guanylyl cyclase-activating protein-binding site within the catalytic domain of retinal guanylyl cyclase 1". Biochemistry. 38 (5): 1387–93. doi:10.1021/bi982512k. PMID 9931003.
  • Payne AM, Downes SM, Bessant DA, Plant C, Moore T, Bird AC, Bhattacharya SS (September 1999). "Genetic analysis of the guanylate cyclase activator 1B (GUCA1B) gene in patients with autosomal dominant retinal dystrophies". Journal of Medical Genetics. 36 (9): 691–3. doi:10.1136/jmg.36.9.691. PMC 1734430. PMID 10507726.
  • Wistow G, Bernstein SL, Wyatt MK, Ray S, Behal A, Touchman JW, et al. (June 2002). "Expressed sequence tag analysis of human retina for the NEIBank Project: retbindin, an abundant, novel retinal cDNA and alternative splicing of other retina-preferred gene transcripts". Molecular Vision. 8: 196–204. PMID 12107411.
  • Sato M, Nakazawa M, Usui T, Tanimoto N, Abe H, Ohguro H (March 2005). "Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies". Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht von Graefes Archiv für Klinische und Experimentelle Ophthalmologie. 243 (3): 235–42. doi:10.1007/s00417-004-1015-7. PMID 15452722. S2CID 23347858.

External links

  • GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview


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