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Identification
HMDB Protein ID HMDBP07722
Secondary Accession Numbers
  • 13431
Name Guanylyl cyclase-activating protein 1
Synonyms
  1. GCAP 1
  2. Guanylate cyclase activator 1A
Gene Name GUCA1A
Protein Type Unknown
Biological Properties
General Function Involved in calcium ion binding
Specific Function Stimulates guanylyl cyclase 1 (GC1) when free calcium ions concentration is low and inhibits GC1 when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of GC is a key event in recovery of the dark state of rod photoreceptors following light exposure
Pathways Not Available
Reactions Not Available
GO Classification
Function
ion binding
cation binding
metal ion binding
binding
calcium ion binding
Cellular Location
  1. Lipid-anchor
  2. Membrane
Gene Properties
Chromosome Location Chromosome:6
Locus 6p21.1
SNPs GUCA1A
Gene Sequence
>606 bp
ATGGGCAACGTGATGGAGGGAAAGTCAGTGGAGGAGCTGAGCAGCACCGAGTGCCACCAG
TGGTACAAGAAGTTCATGACTGAGTGCCCCTCTGGCCAACTCACCCTCTATGAGTTCCGC
CAGTTCTTCGGCCTCAAGAACCTGAGCCCGTCGGCCAGCCAGTACGTGGAACAGATGTTT
GAGACTTTTGACTTCAACAAGGACGGCTACATTGATTTCATGGAGTACGTGGCAGCGCTC
AGCTTGGTCCTCAAGGGGAAGGTGGAACAGAAGCTCCGCTGGTACTTCAAGCTCTATGAT
GTAGATGGCAACGGCTGCATTGACCGCGATGAGCTGCTCACCATCATCCAGGCCATTCGC
GCCATTAACCCCTGCAGCGATACCACCATGACTGCAGAGGAGTTCACCGATACAGTGTTC
TCCAAGATTGACGTCAACGGGGATGGGGAACTCTCCCTGGAAGAGTTTATAGAGGGCGTC
CAGAAGGACCAGATGCTCCTGGACACACTGACACGAAGCCTGGACCTTACCCGCATCGTG
CGCAGGCTCCAGAATGGCGAGCAAGACGAGGAGGGGGCTGACGAGGCCGCTGAGGCAGCC
GGCTGA
Protein Properties
Number of Residues 201
Molecular Weight 22919.5
Theoretical pI 4.07
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • None
Protein Sequence
>Guanylyl cyclase-activating protein 1
MGNVMEGKSVEELSSTECHQWYKKFMTECPSGQLTLYEFRQFFGLKNLSPSASQYVEQMF
ETFDFNKDGYIDFMEYVAALSLVLKGKVEQKLRWYFKLYDVDGNGCIDRDELLTIIQAIR
AINPCSDTTMTAEEFTDTVFSKIDVNGDGELSLEEFIEGVQKDQMLLDTLTRSLDLTRIV
RRLQNGEQDEEGADEAAEAAG
GenBank ID Protein 193785093
UniProtKB/Swiss-Prot ID P43080
UniProtKB/Swiss-Prot Entry Name GUC1A_HUMAN
PDB IDs Not Available
GenBank Gene ID AK125780
GeneCard ID GUCA1A
GenAtlas ID GUCA1A
HGNC ID HGNC:4678
References
General References
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  4. Subbaraya I, Ruiz CC, Helekar BS, Zhao X, Gorczyca WA, Pettenati MJ, Rao PN, Palczewski K, Baehr W: 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. [PubMed:7983048 ]
  5. Payne AM, Downes SM, Bessant DA, Taylor R, Holder GE, Warren MJ, Bird AC, Bhattacharya SS: A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. Hum Mol Genet. 1998 Feb;7(2):273-7. [PubMed:9425234 ]
  6. Sokal I, Li N, Verlinde CL, Haeseleer F, Baehr W, Palczewski K: Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease(1). Biochim Biophys Acta. 2000 Dec 20;1498(2-3):233-51. [PubMed:11108966 ]
  7. Downes SM, Holder GE, Fitzke FW, Payne AM, Warren MJ, Bhattacharya SS, Bird AC: Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. Arch Ophthalmol. 2001 Jan;119(1):96-105. [PubMed:11146732 ]
  8. Wilkie SE, Li Y, Deery EC, Newbold RJ, Garibaldi D, Bateman JB, Zhang H, Lin W, Zack DJ, Bhattacharya SS, Warren MJ, Hunt DM, Zhang K: Identification and functional consequences of a new mutation (E155G) in the gene for GCAP1 that causes autosomal dominant cone dystrophy. Am J Hum Genet. 2001 Sep;69(3):471-80. Epub 2001 Jul 31. [PubMed:11484154 ]
  9. Nishiguchi KM, Sokal I, Yang L, Roychowdhury N, Palczewski K, Berson EL, Dryja TP, Baehr W: A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. Invest Ophthalmol Vis Sci. 2004 Nov;45(11):3863-70. [PubMed:15505030 ]
  10. Sokal I, Dupps WJ, Grassi MA, Brown J Jr, Affatigato LM, Roychowdhury N, Yang L, Filipek S, Palczewski K, Stone EM, Baehr W: A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). Invest Ophthalmol Vis Sci. 2005 Apr;46(4):1124-32. [PubMed:15790869 ]
  11. Jiang L, Katz BJ, Yang Z, Zhao Y, Faulkner N, Hu J, Baird J, Baehr W, Creel DJ, Zhang K: Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A). Mol Vis. 2005 Feb 20;11:143-51. [PubMed:15735604 ]
  12. Kitiratschky VB, Behnen P, Kellner U, Heckenlively JR, Zrenner E, Jagle H, Kohl S, Wissinger B, Koch KW: Mutations in the GUCA1A gene involved in hereditary cone dystrophies impair calcium-mediated regulation of guanylate cyclase. Hum Mutat. 2009 Aug;30(8):E782-96. doi: 10.1002/humu.21055. [PubMed:19459154 ]