GUC2D_HUMAN » Retinal guanylyl cyclase 1

GUC2D_HUMAN » Retinal guanylyl cyclase 1
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Topology in Plasma membrane
Topologyextracellular side
cytoplasmic side
GUC2D_HUMAN » Retinal guanylyl cyclase 1 » RETGC-1; Guanylate cyclase 2D, retinal;Rod outer segment membrane guanylate cyclase;ROS-GC;
Hydrophobic Thickness 34.0 ± 1.6 Å
Tilt Angle 37 ± 4°
ΔGtransfer -25.5 kcal/mol
ΔGfold -15.8 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, HMDB
Topology Out
TM Segments 463-488 (463-492)
Pathways

Olfactory transduction (KEGG)

Phototransduction (KEGG)

Purine metabolism (KEGG)

PDB none
OPM none
Complexes none
Interactions none
Domains

AA: 72-400, PDBID: 1JDN, Subunit A, Seq Identity:22%, Receptor family ligand binding region

AA: 554-805, PDBID: 4L68, Subunit B, Seq Identity:42%, Protein tyrosine kinase

AA: 808-865, PDBID: 3HLS, Subunit E, Seq Identity:10%, Heme NO binding associated

AA: 871-1058, PDBID: 3UVJ, Subunit A, Seq Identity:44%, Adenylate and Guanylate cyclase catalytic domain

UniProt annotation for GUC2D_HUMAN » Retinal guanylyl cyclase 1
FUNCTION: Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction.

CATALYTIC ACTIVITY: GTP = 3",5"-cyclic GMP + diphosphate.

ENZYME REGULATION: Activated by GCAP-1; inhibited by calcium.

TISSUE SPECIFICITY: Retina. Localized exclusively in the nuclei and inner segments of the rod and cone photoreceptor cells.

DISEASE: Leber congenital amaurosis 1 (LCA1) OMIM: A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. mutations affecting the gene represented in this entry.

DISEASE: Cone-rod dystrophy 6 (CORD6) OMIM: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. disease is caused by mutations affecting the gene represented in this entry.

UniProt features for GUC2D_HUMAN » Retinal guanylyl cyclase 1
SIGNAL 1 51 Potential.
CHAIN 52 1103 Retinal guanylyl cyclase 1.
DOMAIN 525 808 Protein kinase.
DOMAIN 880 1010 Guanylate cyclase.
DISULFID 449 449 Interchain (Probable).
DISULFID 457 457 Interchain (Probable).
Amino Acid Sequence for GUC2D_HUMAN » Retinal guanylyl cyclase 1
MTACARRAGG LPDPGLCGPA WWAPSLPRLP RALPRLPLLL LLLLLQPPAL SAVFTVGVLG PWACDPIFSR ARPDLAARLA AARLNRDPGL AGGPRFEVAL LPEPCRTPGS LGAVSSALAR VSGLVGPVNP AACRPAELLA EEAGIALVPW GCPWTQAEGT TAPAVTPAAD ALYALLRAFG WARVALVTAP QDLWVEAGRS LSTALRARGL PVASVTSMEP LDLSGAREAL RKVRDGPRVT AVIMVMHSVL LGGEEQRYLL EAAEELGLTD GSLVFLPFDT IHYALSPGPE ALAALANSSQ LRRAHDAVLT LTRHCPSEGS VLDSLRRAQE RRELPSDLNL QQVSPLFGTI YDAVFLLARG VAEARAAAGG RWVSGAAVAR HIRDAQVPGF CGDLGGDEEP PFVLLDTDAA GDRLFATYML DPARGSFLSA GTRMHFPRGG SAPGPDPSCW FDPNNICGGG LEPGLVFLGF LLVVGMGLAG AFLAHYVRHR LLHMQMVSGP NKIILTVDDI TFLHPHGGTS RKVAQGSRSS LGARSMSDIR SGPSQHLDSP NIGVYEGDRV WLKKFPGDQH IAIRPATKTA FSKLQELRHE NVALYLGLFL ARGAEGPAAL WEGNLAVVSE HCTRGSLQDL LAQREIKLDW MFKSSLLLDL IKGIRYLHHR GVAHGRLKSR NCIVDGRFVL KITDHGHGRL LEAQKVLPEP PRAEDQLWTA PELLRDPALE RRGTLAGDVF SLAIIMQEVV CRSAPYAMLE LTPEEVVQRV RSPPPLCRPL VSMDQAPVEC ILLMKQCWAE QPELRPSMDH TFDLFKNINK GRKTNIIDSM LRMLEQYSSN LEDLIRERTE ELELEKQKTD RLLTQMLPPS VAEALKTGTP VEPEYFEQVT LYFSDIVGFT TISAMSEPIE VVDLLNDLYT LFDAIIGSHD VYKVETIGDA YMVASGLPQR NGQRHAAEIA NMSLDILSAV GTFRMRHMPE VPVRIRIGLH SGPCVAGVVG LTMPRYCLFG DTVNTASRME STGLPYRIHV NLSTVGILRA LDSGYQVELR GRTELKGKGA EDTFWLVGRR GFNKPIPKPP DLQPGSSNHG ISLQEIPPER RRKLEKARPG QFS