Human Metabolome Database: Showing Protein Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha (HMDBP00624)

Identification Biological properties Gene properties Protein properties External links References XML Show 3 metabolites

Identification

HMDB Protein ID

HMDBP00624

Secondary Accession Numbers

5896

Name

Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha

Synonyms

GMP-PDE alpha
PDE V-B1

Gene Name

PDE6A

Protein Type

Enzyme

Biological Properties

General Function

Involved in catalytic activity

Specific Function

This protein participates in processes of transmission and amplification of the visual signal.

Pathways

Phototransduction
Purine metabolism

Reactions

Guanosine 3',5'-cyclic phosphate + Water → Guanosine monophosphate	details
Cyclic GMP + Water → Guanosine monophosphate	details

GO Classification

Biological Process
signal transduction
retina development in camera-type eye
blood coagulation
cytosolic calcium ion homeostasis
visual perception
GMP metabolic process
Cellular Component
cytosol
plasma membrane
Function
hydrolase activity, acting on ester bonds
catalytic activity
hydrolase activity
cyclic-nucleotide phosphodiesterase activity
3',5'-cyclic-nucleotide phosphodiesterase activity
phosphoric ester hydrolase activity
phosphoric diester hydrolase activity
Molecular Function
metal ion binding
3',5'-cyclic-GMP phosphodiesterase activity
Process
biological regulation
regulation of biological process
regulation of cellular process
signal transduction

Cellular Location

Cell membrane
Lipid-anchor
Cytoplasmic side (Potential)

Gene Properties

Chromosome Location

Locus

5q31.2-q34

SNPs

PDE6A

Gene Sequence

>2583 bp
ATGGGCGAGGTGACAGCAGAGGAGGTGGAGAAGTTCCTGGACTCGAATATTGGCTTTGCC
AAACAGTACTACAACCTCCACTACCGGGCCAAGCTCATCTCCGACCTCCTTGGGGCCAAG
GAGGCTGCCGTGGACTTCAGCAACTACCACTCCCCGAGCAGCATGGAGGAGAGCGAAATC
ATCTTTGATCTCCTGCGGGACTTTCAGGAGAATTTACAGACAGAGAAATGCATCTTCAAT
GTCATGAAGAAGCTGTGCTTCCTCCTGCAGGCAGACCGCATGAGCCTGTTCATGTACCGG
ACCCGCAATGGCATCGCAGAGCTGGCCACCAGGCTTTTCAATGTCCACAAGGATGCTGTC
CTCGAGGACTGCCTGGTGATGCCCGACCAAGAGATCGTCTTCCCTTTGGACATGGGCATC
GTGGGCCATGTCGCACACTCTAAGAAGATTGCTAACGTCCCCAACACAGAGGAGGATGAG
CATTTCTGTGACTTTGTGGACATCCTCACAGAGTACAAGACCAAGAACATCTTGGCTTCC
CCCATAATGAATGGGAAGGATGTGGTGGCCATAATCATGGCTGTGAATAAAGTGGATGGA
TCCCACTTCACCAAGAGAGATGAAGAGATTCTTCTCAAGTACCTCAATTTTGCAAATCTA
ATCATGAAGGTGTACCACCTGAGTTACCTGCACAACTGTGAAACTCGACGTGGCCAGATA
CTGCTGTGGTCTGGGAGCAAAGTCTTTGAAGAACTTACGGACATCGAACGACAGTTCCAC
AAAGCCCTGTACACAGTCCGTGCTTTCCTCAACTGTGACAGATACTCTGTGGGTCTCTTA
GACATGACCAAGCAGAAGGAATTTTTTGATGTGTGGCCGGTTCTGATGGGTGAAGTTCCA
CCTTACTCTGGTCCCAGGACTCCGGATGGAAGAGAAATTAACTTTTACAAGGTCATTGAC
TACATCCTGCATGGCAAAGAGGACATCAAAGTCATCCCGAATCCACCTCCTGACCATTGG
GCTTTAGTAAGCGGTCTCCCAGCTTATGTTGCCCAGAATGGCCTGATTTGCAACATCATG
AATGCGCCTGCGGAGGACTTTTTTGCATTTCAGAAAGAACCTCTGGATGAGTCTGGATGG
ATGATTAAAAATGTGCTTTCAATGCCGATTGTGAACAAGAAGGAAGAAATTGTTGGAGTG
GCCACATTTTACAATCGTAAAGATGGGAAGCCCTTTGATGAAATGGATGAGACGCTCATG
GAGTCTTTGACTCAATTTCTGGGCTGGTCTGTCTTAAATCCTGACACCTATGAGTCAATG
AATAAACTTGAAAATAGGAAGGATATTTTCCAGGACATAGTAAAATATCATGTGAAGTGT
GACAATGAAGAAATTCAGAAAATCTTGAAAACCAGAGAGGTGTATGGGAAGGAGCCATGG
GAGTGTGAGGAAGAGGAGCTGGCTGAGATCCTGCAAGCGGAGCTGCCAGATGCAGATAAA
TACGAAATTAATAAATTTCACTTCAGTGACTTACCCCTAACAGAACTGGAGCTGGTAAAA
TGTGGAATACAGATGTATTATGAGCTCAAAGTGGTGGATAAATTTCACATTCCACAAGAG
GCCCTGGTGCGGTTCATGTACTCCCTGAGTAAGGGCTACCGCAAGATCACCTACCACAAC
TGGCGGCACGGCTTCAACGTGGGGCAGACCATGTTCTCCCTGCTGGTGACGGGAAAGCTG
AAGCGCTACTTCACGGACCTAGAGGCCTTGGCCATGGTCACTGCTGCTTTCTGCCATGAC
ATTGACCACAGAGGCACCAATAACCTCTACCAGATGAAATCCCAGAACCCACTGGCCAAG
CTCCATGGGTCCTCTATCTTGGAAAGACACCACTTGGAGTTTGGCAAAACACTGCTCAGA
GACGAGAGCCTGAATATCTTTCAAAACCTCAATCGTCGACAGCATGAGCATGCCATCCAC
ATGATGGACATTGCAATCATTGCCACAGACCTCGCCCTGTATTTCAAGAAGAGGACGATG
TTCCAAAAGATCGTGGATCAGTCTAAGACATATGAGAGTGAACAGGAGTGGACACAGTAC
ATGATGCTGGAGCAGACACGGAAGGAAATCGTTATGGCCATGATGATGACCGCCTGTGAT
CTCTCAGCCATCACCAAACCCTGGGAGGTGCAGAGCCAGGTAGCTCTGCTGGTGGCTGCT
GAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATTCCCATG
ATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTT
TGCACCTTCGTCTACAAGGAATTCTCCCGTTTCCACGAGGAGATCACCCCAATGTTGGAC
GGGATCACCAACAATCGCAAGGAGTGGAAGGCGCTTGCTGATGAGTACGATGCCAAGATG
AAGGTGCAGGAGGAGAAGAAGCAGAAACAGCAGTCGGCCAAGTCAGCAGCCGCAGGAAAT
CAGCCGGGGGGAAACCCCAGCCCAGGGGGTGCAACTACATCCAAGTCCTGCTGCATCCAG
TAA

Protein Properties

Number of Residues

860

Molecular Weight

99546.595

Theoretical pI

5.723

Pfam Domain Function

PDEase_I (PF00233 )
GAF (PF01590 )

Signals

Not Available

Transmembrane Regions

Not Available

Protein Sequence

>Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha
MGEVTAEEVEKFLDSNIGFAKQYYNLHYRAKLISDLLGAKEAAVDFSNYHSPSSMEESEI
IFDLLRDFQENLQTEKCIFNVMKKLCFLLQADRMSLFMYRTRNGIAELATRLFNVHKDAV
LEDCLVMPDQEIVFPLDMGIVGHVAHSKKIANVPNTEEDEHFCDFVDILTEYKTKNILAS
PIMNGKDVVAIIMAVNKVDGSHFTKRDEEILLKYLNFANLIMKVYHLSYLHNCETRRGQI
LLWSGSKVFEELTDIERQFHKALYTVRAFLNCDRYSVGLLDMTKQKEFFDVWPVLMGEVP
PYSGPRTPDGREINFYKVIDYILHGKEDIKVIPNPPPDHWALVSGLPAYVAQNGLICNIM
NAPAEDFFAFQKEPLDESGWMIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEMDETLM
ESLTQFLGWSVLNPDTYESMNKLENRKDIFQDIVKYHVKCDNEEIQKILKTREVYGKEPW
ECEEEELAEILQAELPDADKYEINKFHFSDLPLTELELVKCGIQMYYELKVVDKFHIPQE
ALVRFMYSLSKGYRKITYHNWRHGFNVGQTMFSLLVTGKLKRYFTDLEALAMVTAAFCHD
IDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKTLLRDESLNIFQNLNRRQHEHAIH
MMDIAIIATDLALYFKKRTMFQKIVDQSKTYESEQEWTQYMMLEQTRKEIVMAMMMTACD
LSAITKPWEVQSQVALLVAAEFWEQGDLERTVLQQNPIPMMDRNKADELPKLQVGFIDFV
CTFVYKEFSRFHEEITPMLDGITNNRKEWKALADEYDAKMKVQEEKKQKQQSAKSAAAGN
QPGGNPSPGGATTSKSCCIQ

External Links

GenBank ID Protein

112180437

UniProtKB/Swiss-Prot ID

P16499

UniProtKB/Swiss-Prot Entry Name

PDE6A_HUMAN

PDB IDs

Not Available

GenBank Gene ID

GeneCard ID

GenAtlas ID

HGNC ID

References

General References

Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed:15489334 ]
Pittler SJ, Baehr W, Wasmuth JJ, McConnell DG, Champagne MS, vanTuinen P, Ledbetter D, Davis RL: Molecular characterization of human and bovine rod photoreceptor cGMP phosphodiesterase alpha-subunit and chromosomal localization of the human gene. Genomics. 1990 Feb;6(2):272-83. [PubMed:2155175 ]
Huang SH, Pittler SJ, Huang X, Oliveira L, Berson EL, Dryja TP: Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet. 1995 Dec;11(4):468-71. [PubMed:7493036 ]
Dryja TP, Rucinski DE, Chen SH, Berson EL: Frequency of mutations in the gene encoding the alpha subunit of rod cGMP-phosphodiesterase in autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 1999 Jul;40(8):1859-65. [PubMed:10393062 ]