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Protein

Retinal guanylyl cyclase 2

Gene

GUCY2F

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at transcript leveli

Functioni

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 activityi

GTP = 3',5'-cyclic GMP + diphosphate.

Activity regulationi

Activated by GCAP-1; inhibited by calcium.

GO - Molecular functioni

  • ATP binding Source: InterPro
  • GTP binding Source: UniProtKB-KW
  • guanylate cyclase activity Source: GO_Central
  • peptide receptor activity Source: GO_Central
  • protein heterodimerization activity Source: Ensembl
  • protein homodimerization activity Source: Ensembl
  • protein kinase activity Source: InterPro
  • signaling receptor activity Source: ProtInc

GO - Biological processi

Keywordsi

Molecular functionLyase
Biological processcGMP biosynthesis, Sensory transduction, Vision
LigandGTP-binding, Nucleotide-binding

Enzyme and pathway databases

BRENDAi4.6.1.2 2681
ReactomeiR-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade

Names & Taxonomyi

Protein namesi
Recommended name:
Retinal guanylyl cyclase 2 (EC:4.6.1.2)
Short name:
RETGC-2
Alternative name(s):
Guanylate cyclase 2F, retinal
Guanylate cyclase F
Short name:
GC-F
Rod outer segment membrane guanylate cyclase 2
Short name:
ROS-GC2
Gene namesi
Name:GUCY2F
Synonyms:GUC2F, RETGC2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000101890.4
HGNCiHGNC:4691 GUCY2F
MIMi300041 gene
neXtProtiNX_P51841

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini51 – 467ExtracellularSequence analysisAdd BLAST417
Transmembranei468 – 490HelicalSequence analysisAdd BLAST23
Topological domaini491 – 1108CytoplasmicSequence analysisAdd BLAST618

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

DisGeNETi2986
OpenTargetsiENSG00000101890
PharmGKBiPA29071

Polymorphism and mutation databases

BioMutaiGUCY2F
DMDMi311033391

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 50Sequence analysisAdd BLAST50
ChainiPRO_000001238651 – 1108Retinal guanylyl cyclase 2Add BLAST1058

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi104 ↔ 132By similarity
Disulfide bondi452InterchainBy similarity
Disulfide bondi460InterchainBy similarity

Post-translational modificationi

There are 9 conserved cysteine residues in sensory guanylate cyclases, 6 in the extracellular domain, which may be involved in intra- or interchain disulfide bonds.

Keywords - PTMi

Disulfide bond

Proteomic databases

EPDiP51841
MaxQBiP51841
PaxDbiP51841
PeptideAtlasiP51841
PRIDEiP51841
ProteomicsDBi56431

PTM databases

iPTMnetiP51841
PhosphoSitePlusiP51841

Expressioni

Tissue specificityi

Retina. Localized exclusively in the outer nuclear layer and inner segments of the rod and cone photoreceptor cells.

Gene expression databases

BgeeiENSG00000101890 Expressed in 6 organ(s), highest expression level in right uterine tube
CleanExiHS_GUCY2F
GenevisibleiP51841 HS

Interactioni

GO - Molecular functioni

Protein-protein interaction databases

BioGridi109241, 2 interactors
IntActiP51841, 2 interactors
MINTiP51841
STRINGi9606.ENSP00000218006

Structurei

3D structure databases

ProteinModelPortaliP51841
SMRiP51841
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini532 – 812Protein kinasePROSITE-ProRule annotationAdd BLAST281
Domaini884 – 1014Guanylate cyclasePROSITE-ProRule annotationAdd BLAST131

Domaini

The protein kinase domain is predicted to be catalytically inactive.

Sequence similaritiesi

Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.PROSITE-ProRule annotation

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG1023 Eukaryota
COG2114 LUCA
GeneTreeiENSGT00760000118959
HOGENOMiHOG000293307
HOVERGENiHBG098487
InParanoidiP51841
KOiK12322
OMAiNSIYFIA
OrthoDBiEOG091G00VM
PhylomeDBiP51841
TreeFamiTF106338

Family and domain databases

Gene3Di3.30.70.1230, 1 hit
InterProiView protein in InterPro
IPR001054 A/G_cyclase
IPR018297 A/G_cyclase_CS
IPR001828 ANF_lig-bd_rcpt
IPR033484 GUCY2F
IPR011645 HNOB_dom_associated
IPR011009 Kinase-like_dom_sf
IPR029787 Nucleotide_cyclase
IPR028082 Peripla_BP_I
IPR000719 Prot_kinase_dom
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
PANTHERiPTHR11920:SF349 PTHR11920:SF349, 1 hit
PfamiView protein in Pfam
PF01094 ANF_receptor, 1 hit
PF00211 Guanylate_cyc, 1 hit
PF07701 HNOBA, 1 hit
PF07714 Pkinase_Tyr, 1 hit
PRINTSiPR00109 TYRKINASE
SMARTiView protein in SMART
SM00044 CYCc, 1 hit
SUPFAMiSSF53822 SSF53822, 1 hit
SSF55073 SSF55073, 1 hit
SSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS00452 GUANYLATE_CYCLASE_1, 1 hit
PS50125 GUANYLATE_CYCLASE_2, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P51841-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MFLGLGRFSR LVLWFAAFRK LLGHHGLASA KFLWCLCLLS VMSLPQQVWT
60 70 80 90 100
LPYKIGVVGP WACDSLFSKA LPEVAARLAI ERINRDPSFD LSYSFEYVIL
110 120 130 140 150
NEDCQTSRAL SSFISHHQMA SGFIGPTNPG YCEAASLLGN SWDKGIFSWA
160 170 180 190 200
CVNYELDNKI SYPTFSRTLP SPIRVLVTVM KYFQWAHAGV ISSDEDIWVH
210 220 230 240 250
TANRVASALR SHGLPVGVVL TTGQDSQSMR KALQRIHQAD RIRIIIMCMH
260 270 280 290 300
SALIGGETQM HLLECAHDLK MTDGTYVFVP YDALLYSLPY KHTPYRVLRN
310 320 330 340 350
NPKLREAYDA VLTITVESQE KTFYQAFTEA AARGEIPEKL EFDQVSPLFG
360 370 380 390 400
TIYNSIYFIA QAMNNAMKEN GQAGAASLVQ HSRNMQFHGF NQLMRTDSNG
410 420 430 440 450
NGISEYVILD TNLKEWELHS TYTVDMEMEL LRFGGTPIHF PGGRPPRADA
460 470 480 490 500
KCWFAEGKIC HGGIDPAFAM MVCLTLLIAL LSINGFAYFI RRRINKIQLI
510 520 530 540 550
KGPNRILLTL EDVTFINPHF GSKRGSRASV SFQITSEVQS GRSPRLSFSS
560 570 580 590 600
GSLTPATYEN SNIAIYEGDW VWLKKFSLGD FGDLKSIKSR ASDVFEMMKD
610 620 630 640 650
LRHENINPLL GFFYDSGMFA IVTEFCSRGS LEDILTNQDV KLDWMFKSSL
660 670 680 690 700
LLDLIKGMKY LHHREFVHGR LKSRNCVVDG RFVLKVTDYG FNDILEMLRL
710 720 730 740 750
SEEESSMEEL LWTAPELLRA PRGSRLGSFA GDVYSFAIIM QEVMVRGTPF
760 770 780 790 800
CMMDLPAQEI INRLKKPPPV YRPVVPPEHA PPECLQLMKQ CWAEAAEQRP
810 820 830 840 850
TFDEIFNQFK TFNKGKKTNI IDSMLRMLEQ YSSNLEDLIR ERTEELEIEK
860 870 880 890 900
QKTEKLLTQM LPPSVAESLK KGCTVEPEGF DLVTLYFSDI VGFTTISAMS
910 920 930 940 950
EPIEVVDLLN DLYTLFDAII GSHDVYKVET IGDAYMVASG LPKRNGSRHA
960 970 980 990 1000
AEIANMSLDI LSSVGTFKMR HMPEVPVRIR IGLHSGPVVA GVVGLTMPRY
1010 1020 1030 1040 1050
CLFGDTVNTA SRMESTGLPY RIHVSLSTVT ILQNLSEGYE VELRGRTELK
1060 1070 1080 1090 1100
GKGTEETFWL IGKKGFMKPL PVPPPVDKDG QVGHGLQPVE IAAFQRRKAE

RQLVRNKP
Length:1,108
Mass (Da):124,850
Last modified:November 2, 2010 - v2
Checksum:iB047BBF1A3C009F9
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03641910R → P in a breast cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs755991142Ensembl.1
Natural variantiVAR_04223340S → C1 PublicationCorresponds to variant dbSNP:rs34228145Ensembl.1
Natural variantiVAR_042234160I → N1 PublicationCorresponds to variant dbSNP:rs33971675Ensembl.1
Natural variantiVAR_042235230R → W1 PublicationCorresponds to variant dbSNP:rs33973457Ensembl.1
Natural variantiVAR_009136284L → P1 PublicationCorresponds to variant dbSNP:rs12008095Ensembl.1
Natural variantiVAR_009137296R → Q1 PublicationCorresponds to variant dbSNP:rs502209Ensembl.1
Natural variantiVAR_042236305R → Q1 PublicationCorresponds to variant dbSNP:rs55966326Ensembl.1
Natural variantiVAR_030633308Y → C1 PublicationCorresponds to variant dbSNP:rs16985750Ensembl.1
Natural variantiVAR_030634380Q → H1 PublicationCorresponds to variant dbSNP:rs2272925Ensembl.1
Natural variantiVAR_042237434G → R1 PublicationCorresponds to variant dbSNP:rs56293008Ensembl.1
Natural variantiVAR_042238568G → D in a glioblastoma multiforme sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs779221554Ensembl.1
Natural variantiVAR_030635628R → Q1 PublicationCorresponds to variant dbSNP:rs7883913Ensembl.1
Natural variantiVAR_042239677V → L1 PublicationCorresponds to variant dbSNP:rs35474112Ensembl.1
Natural variantiVAR_042240794E → K1 PublicationCorresponds to variant dbSNP:rs35726803Ensembl.1
Natural variantiVAR_069424872G → D1 PublicationCorresponds to variant dbSNP:rs148663380Ensembl.1
Natural variantiVAR_0422411010A → V1 PublicationCorresponds to variant dbSNP:rs55735218Ensembl.1
Natural variantiVAR_0422421052K → R in a lung adenocarcinoma sample; somatic mutation. 1 Publication1
Natural variantiVAR_0422431055E → D in a lung squamous cell carcinoma sample; somatic mutation. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L37378 mRNA Translation: AAA74451.1
AL031387 Genomic DNA No translation available.
CCDSiCCDS14545.1
PIRiI59385
RefSeqiNP_001513.2, NM_001522.2
UniGeneiHs.123074

Genome annotation databases

EnsembliENST00000218006; ENSP00000218006; ENSG00000101890
GeneIDi2986
KEGGihsa:2986
UCSCiuc065aqx.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Mutations of the GUCY2F gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L37378 mRNA Translation: AAA74451.1
AL031387 Genomic DNA No translation available.
CCDSiCCDS14545.1
PIRiI59385
RefSeqiNP_001513.2, NM_001522.2
UniGeneiHs.123074

3D structure databases

ProteinModelPortaliP51841
SMRiP51841
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109241, 2 interactors
IntActiP51841, 2 interactors
MINTiP51841
STRINGi9606.ENSP00000218006

PTM databases

iPTMnetiP51841
PhosphoSitePlusiP51841

Polymorphism and mutation databases

BioMutaiGUCY2F
DMDMi311033391

Proteomic databases

EPDiP51841
MaxQBiP51841
PaxDbiP51841
PeptideAtlasiP51841
PRIDEiP51841
ProteomicsDBi56431

Protocols and materials databases

DNASUi2986
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000218006; ENSP00000218006; ENSG00000101890
GeneIDi2986
KEGGihsa:2986
UCSCiuc065aqx.1 human

Organism-specific databases

CTDi2986
DisGeNETi2986
EuPathDBiHostDB:ENSG00000101890.4
GeneCardsiGUCY2F
H-InvDBiHIX0056276
HGNCiHGNC:4691 GUCY2F
MIMi300041 gene
neXtProtiNX_P51841
OpenTargetsiENSG00000101890
PharmGKBiPA29071
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1023 Eukaryota
COG2114 LUCA
GeneTreeiENSGT00760000118959
HOGENOMiHOG000293307
HOVERGENiHBG098487
InParanoidiP51841
KOiK12322
OMAiNSIYFIA
OrthoDBiEOG091G00VM
PhylomeDBiP51841
TreeFamiTF106338

Enzyme and pathway databases

BRENDAi4.6.1.2 2681
ReactomeiR-HSA-2514859 Inactivation, recovery and regulation of the phototransduction cascade

Miscellaneous databases

GenomeRNAii2986
PROiPR:P51841
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000101890 Expressed in 6 organ(s), highest expression level in right uterine tube
CleanExiHS_GUCY2F
GenevisibleiP51841 HS

Family and domain databases

Gene3Di3.30.70.1230, 1 hit
InterProiView protein in InterPro
IPR001054 A/G_cyclase
IPR018297 A/G_cyclase_CS
IPR001828 ANF_lig-bd_rcpt
IPR033484 GUCY2F
IPR011645 HNOB_dom_associated
IPR011009 Kinase-like_dom_sf
IPR029787 Nucleotide_cyclase
IPR028082 Peripla_BP_I
IPR000719 Prot_kinase_dom
IPR001245 Ser-Thr/Tyr_kinase_cat_dom
PANTHERiPTHR11920:SF349 PTHR11920:SF349, 1 hit
PfamiView protein in Pfam
PF01094 ANF_receptor, 1 hit
PF00211 Guanylate_cyc, 1 hit
PF07701 HNOBA, 1 hit
PF07714 Pkinase_Tyr, 1 hit
PRINTSiPR00109 TYRKINASE
SMARTiView protein in SMART
SM00044 CYCc, 1 hit
SUPFAMiSSF53822 SSF53822, 1 hit
SSF55073 SSF55073, 1 hit
SSF56112 SSF56112, 1 hit
PROSITEiView protein in PROSITE
PS00452 GUANYLATE_CYCLASE_1, 1 hit
PS50125 GUANYLATE_CYCLASE_2, 1 hit
PS50011 PROTEIN_KINASE_DOM, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGUC2F_HUMAN
AccessioniPrimary (citable) accession number: P51841
Secondary accession number(s): Q9UJF1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 1, 1996
Last sequence update: November 2, 2010
Last modified: November 7, 2018
This is version 180 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  6. Human and mouse protein kinases
    Human and mouse protein kinases: classification and index
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health

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