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Basic Information Integrated Annotations

Tag Content
UUCD2 ID IUUC-Hsa-046907
Ensembl Protein ID ENSP00000419045.2
UniProt Accession P30793; Q6FHY7; Q9Y4I8; GCH1_HUMAN
Genbank Protein ID AAB23164.1; AAB23165.1; AAB23166.1; CAB77391.1; CAB77392.1; AAB16861.1; AAD38866.1; AAD38868.1; CAG38788.1; EAW80647.1; AAH25415.1; AAB42186.1; CAA83213.1; CAA78908.1; AAB60633.1; AAB60633.1; AAB60633.1; AAB60633.1
Protein Name GTP cyclohydrolase 1; GTP cyclohydrolase I
Genbank Nucleotide ID S44049; S44053; S43856; Z29433; Z29434; U19523; U66095; U66097; CR536551; CH471061; BC025415; L29478; Z30952; Z16418; U19259; U19256; U19257; U19258
Gene Name GCH1; DYT5; GCH
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000131979.18 ENST00000543643.6 ENSP00000444011.2
ENSG00000131979.18 ENST00000491895.6 ENSP00000419045.2
ENSG00000131979.18 ENST00000536224.2 ENSP00000445246.2
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
miRWalkTargetScanmiRecordsRepTar
miRcodeRAID2
Protein-protein Interaction
IIDPINAHINTMentha
InWeb_IM
Protein 3D Structure
PDBMMDB
Disease-associated Information
ClinVarGWASdbOMIM
Drug and target
TTD
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
UniProt
DNA Methylation
TCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Reviewed
Details
Family Domain References (PMIDs)
UBD/Other/Other UBD/Other/Other 22984419
Organism Homo sapiens
Functional Description
(View)

Functional Description



     Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown.
Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown.
Protein Sequence
(Fasta)
MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS 60
EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA 120
It may take some time, please wait.

Protein Fasta Sequence



>IUUC-Hsa-046907|UBD,UBD/Other/Other|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
AAAAAGGAGG CGCGGCCGGG CTTTCCAGCC TGTGGCCGCT CCCGGCTCGG AGTGTGATCT 60
AAGCAGGTTG CGTACCTTCC TCAGGTGACT CCGGCCACAG CCCATTGTCC GCGGCCACCG 120
It may take some time, please wait.

Nucleotide Fasta Sequence



>IUUC-Hsa-046907|UBD,UBD/Other/Other|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0021--Allosteric enzyme
KW-0025--Alternative splicing
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0225--Disease mutation
KW-1023--Dystonia
KW-0342--GTP-binding
KW-0378--Hydrolase
KW-0479--Metal-binding
KW-0547--Nucleotide-binding
KW-0539--Nucleus
KW-0908--Parkinsonism
KW-0586--Phenylketonuria
KW-0597--Phosphoprotein
KW-0621--Polymorphism
KW-1185--Reference proteome
KW-0783--Tetrahydrobiopterin biosynthesis
KW-0862--Zinc

Interpro

IPR001474--GTP_CycHdrlase_I
IPR018234--GTP_CycHdrlase_I_CS
IPR020602--GTP_CycHdrlase_I_dom

PROSITE

PS00859--GTP_CYCLOHYDROL_1_1
PS00860--GTP_CYCLOHYDROL_1_2

Pfam

PF01227--GTP_cyclohydroI

Gene Ontology

GO:0005737--C:cytoplasm
GO:0031410--C:cytoplasmic vesicle
GO:0005829--C:cytosol
GO:0044306--C:neuron projection terminus
GO:0031965--C:nuclear membrane
GO:0005654--C:nucleoplasm
GO:0005634--C:nucleus
GO:0043234--C:protein complex
GO:0005509--F:calcium ion binding
GO:0050662--F:coenzyme binding
GO:0005525--F:GTP binding
GO:0003934--F:GTP cyclohydrolase I activity
GO:0051019--F:mitogen-activated protein kinase binding
GO:0042803--F:protein homodimerization activity
GO:0008270--F:zinc ion binding
GO:0035998--P:7,8-dihydroneopterin 3'-triphosphate biosynthetic process
GO:0042416--P:dopamine biosynthetic process
GO:0045776--P:negative regulation of blood pressure
GO:0050884--P:neuromuscular process controlling posture
GO:0006809--P:nitric oxide biosynthetic process
GO:0010460--P:positive regulation of heart rate
GO:0051000--P:positive regulation of nitric-oxide synthase activity
GO:0051291--P:protein heterooligomerization
GO:0051260--P:protein homooligomerization
GO:0042559--P:pteridine-containing compound biosynthetic process
GO:0008217--P:regulation of blood pressure
GO:0014916--P:regulation of lung blood pressure
GO:0050999--P:regulation of nitric-oxide synthase activity
GO:2000121--P:regulation of removal of superoxide radicals
GO:0034341--P:response to interferon-gamma
GO:0032496--P:response to lipopolysaccharide
GO:0048265--P:response to pain
GO:0034612--P:response to tumor necrosis factor
GO:0006729--P:tetrahydrobiopterin biosynthetic process
GO:0046654--P:tetrahydrofolate biosynthetic process
GO:0042311--P:vasodilation

KEGG hsa:2643
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Atr-002530 Amborella trichopoda 33.65 3.00e-26 112.00
IUUC-Apl-004135 Anas platyrhynchos 91.79 2.00e-104 370.00
IUUC-Aca-005252 Anolis carolinensis 75.63 6.00e-87 313.00
IUUC-Aly-006454 Arabidopsis lyrata 40.70 5.00e-30 125.00
IUUC-Ath-006744 Arabidopsis thaliana 40.84 2.00e-29 123.00
IUUC-Ago-007744 Ashbya gossypii 69.71 3.00e-70 258.00
IUUC-Acl-008058 Aspergillus clavatus 59.50 2.00e-71 262.00
IUUC-Afl-008668 Aspergillus flavus 61.00 4.00e-73 268.00
IUUC-Afu-008935 Aspergillus fumigatus 59.50 2.00e-71 262.00
IUUC-Ani-009207 Aspergillus nidulans 61.00 2.00e-73 269.00
IUUC-Ang-009686 Aspergillus niger 65.17 1.00e-70 259.00
IUUC-Aor-010202 Aspergillus oryzae 61.00 3.00e-73 268.00
IUUC-Ate-010518 Aspergillus terreus 55.46 3.00e-72 265.00
IUUC-Ame-010958 Astyanax mexicanus 69.53 1.00e-93 335.00
IUUC-Bgr-012060 Blumeria graminis 51.98 2.00e-64 238.00
IUUC-Bta-012416 Bos taurus 91.20 8.00e-122 429.00
IUUC-Bci-013811 Botrytis cinerea 50.42 2.00e-67 249.00
IUUC-Bdi-014794 Brachypodium distachyon 38.15 2.00e-22 100.00
IUUC-Bol-015182 Brassica oleracea 39.59 2.00e-30 126.00
IUUC-Bra-016764 Brassica rapa 38.50 5.00e-29 122.00
IUUC-Cel-018345 Caenorhabditis elegans 71.74 2.00e-80 291.00
IUUC-Cja-019848 Callithrix jacchus 100.00 3.00e-79 286.00
IUUC-Cfa-020630 Canis familiaris 96.40 2.00e-128 451.00
IUUC-Cpo-021420 Cavia porcellus 91.87 1.00e-104 372.00
IUUC-Cre-022618 Chlamydomonas reinhardtii 41.36 1.00e-33 136.00
IUUC-Csa-023403 Chlorocebus sabaeus 92.80 8.00e-125 439.00
IUUC-Cho-024907 Choloepus hoffmanni 93.20 2.00e-129 454.00
IUUC-Cin-025120 Ciona intestinalis 64.29 1.00e-68 252.00
IUUC-Csv-026259 Ciona savignyi 72.00 4.00e-78 283.00
IUUC-Cgl-026508 Colletotrichum gloeosporioides 55.45 2.00e-66 245.00
IUUC-Cne-026810 Cryptococcus neoformans 64.55 6.00e-72 265.00
IUUC-Cme-027139 Cyanidioschyzon merolae 49.46 1.00e-49 189.00
IUUC-Dre-028815 Danio rerio 88.00 7.00e-105 373.00
IUUC-Dno-029017 Dasypus novemcinctus 93.75 4.00e-125 440.00
IUUC-Dor-030417 Dipodomys ordii 97.78 2.00e-76 276.00
IUUC-Dse-031187 Dothistroma septosporum 64.09 1.00e-69 256.00
IUUC-Dme-031615 Drosophila melanogaster 76.50 7.00e-74 270.00
IUUC-Ete-032727 Echinops telfairi 75.96 7.00e-86 309.00
IUUC-Eca-033487 Equus caballus 97.83 9.00e-78 281.00
IUUC-Eeu-034696 Erinaceus europaeus 86.80 4.00e-117 414.00
IUUC-Fca-035975 Felis catus 98.72 6.00e-41 158.00
IUUC-Fal-037439 Ficedula albicollis 97.32 2.00e-85 307.00
IUUC-Fox-037781 Fusarium oxysporum 59.55 1.00e-64 239.00
IUUC-Fso-038377 Fusarium solani 57.46 6.00e-63 234.00
IUUC-Gmo-038945 Gadus morhua 73.96 1.00e-83 302.00
IUUC-Ggr-039834 Gaeumannomyces graminis 53.47 6.00e-65 240.00
IUUC-Gga-040495 Gallus gallus 84.32 1.00e-111 395.00
IUUC-Gac-042306 Gasterosteus aculeatus 83.89 2.00e-103 368.00
IUUC-Gma-043539 Glycine max 32.86 2.00e-30 127.00
IUUC-Ggo-045597 Gorilla gorilla 87.50 1.00e-113 402.00
IUUC-Hvu-047298 Hordeum vulgare 32.65 3.00e-26 113.00
IUUC-Itr-048997 Ictidomys tridecemlineatus 94.27 2.00e-106 378.00
IUUC-Kpa-049319 Komagataella pastoris 59.38 3.00e-74 271.00
IUUC-Lch-049771 Latimeria chalumnae 77.64 5.00e-107 380.00
IUUC-Lpe-050904 Leersia perrieri 36.73 2.00e-25 110.00
IUUC-Loc-052063 Lepisosteus oculatus 83.33 1.00e-108 385.00
IUUC-Lma-053280 Leptosphaeria maculans 45.89 1.00e-48 187.00
IUUC-Laf-054214 Loxodonta africana 97.20 3.00e-136 477.00
IUUC-Mcc-054778 Macaca mulatta 98.80 8.00e-139 486.00
IUUC-Meu-056598 Macropus eugenii 95.65 4.00e-34 138.00
IUUC-Mor-056989 Magnaporthe oryzae 55.45 3.00e-65 241.00
IUUC-Mpo-057591 Magnaporthe poae 54.95 3.00e-66 244.00
IUUC-Mtr-057924 Medicago truncatula 36.02 5.00e-32 132.00
IUUC-Mla-058931 Melampsora laricipopulina 60.80 8.00e-69 253.00
IUUC-Mga-060001 Meleagris gallopavo 97.10 4.00e-78 282.00
IUUC-Mvi-060513 Microbotryum violaceum 66.85 8.00e-69 253.00
IUUC-Mmr-061725 Microcebus murinus 96.00 1.00e-132 465.00
IUUC-Mdo-062715 Monodelphis domestica 84.21 1.00e-121 429.00
IUUC-Mmu-063203 Mus musculus 89.17 1.00e-119 422.00
IUUC-Mac-065392 Musa acuminata 38.56 9.00e-37 147.00
IUUC-Mpu-066174 Mustela putorius furo 97.17 2.00e-122 431.00
IUUC-Mlu-067883 Myotis lucifugus 99.28 5.00e-79 285.00
IUUC-Nfi-068317 Neosartorya fischeri 59.50 2.00e-71 262.00
IUUC-Ncr-068822 Neurospora crassa 55.94 4.00e-67 248.00
IUUC-Nle-069231 Nomascus leucogenys 99.60 3.00e-140 490.00
IUUC-Opr-070417 Ochotona princeps 99.26 7.00e-77 278.00
IUUC-Ont-072168 Oreochromis niloticus 80.91 1.00e-104 372.00
IUUC-Oan-072690 Ornithorhynchus anatinus 98.72 6.00e-41 158.00
IUUC-Ocu-074537 Oryctolagus cuniculus 95.20 7.00e-126 442.00
IUUC-Oba-075333 Oryza barthii 33.16 3.00e-26 112.00
IUUC-Obr-076255 Oryza brachyantha 37.29 8.00e-26 110.00
IUUC-Ogl-077792 Oryza glaberrima 33.16 1.00e-26 113.00
IUUC-Ogu-078354 Oryza glumaepatula 33.16 6.00e-26 112.00
IUUC-Oin-079934 Oryza indica 33.16 9.00e-26 111.00
IUUC-Olo-080643 Oryza longistaminata 37.36 1.00e-24 107.00
IUUC-Ome-081632 Oryza meridionalis 36.99 9.00e-26 111.00
IUUC-Oni-083004 Oryza nivara 33.16 1.00e-25 111.00
IUUC-Opu-083899 Oryza punctata 36.73 8.00e-26 111.00
IUUC-Oru-084386 Oryza rufipogon 33.16 7.00e-26 112.00
IUUC-Osa-085665 Oryza sativa 37.36 9.00e-25 107.00
IUUC-Ola-086577 Oryzias latipes 76.29 2.00e-88 318.00
IUUC-Olu-087867 Ostreococcus lucimarinus 43.39 1.00e-36 146.00
IUUC-Oga-088652 Otolemur garnettii 91.60 1.00e-112 399.00
IUUC-Oar-089965 Ovis aries 96.14 4.00e-119 420.00
IUUC-Ptr-090833 Pan troglodytes 100.00 1.00e-140 492.00
IUUC-Psi-093542 Pelodiscus sinensis 67.51 2.00e-86 311.00
IUUC-Pma-094423 Petromyzon marinus 84.72 2.00e-71 261.00
IUUC-Pno-095091 Phaeosphaeria nodorum 64.61 8.00e-69 253.00
IUUC-Ppa-096013 Physcomitrella patens 40.51 1.00e-28 121.00
IUUC-Pfo-097146 Poecilia formosa 79.24 7.00e-108 383.00
IUUC-Pab-098744 Pongo abelii 100.00 1.00e-140 492.00
IUUC-Pop-099917 Populus trichocarpa 37.27 6.00e-27 115.00
IUUC-Pca-100111 Procavia capensis 95.20 9.00e-134 469.00
IUUC-Ppe-101984 Prunus persica 40.10 7.00e-29 121.00
IUUC-Pva-103078 Pteropus vampyrus 93.60 3.00e-135 474.00
IUUC-Pgr-103438 Puccinia graminis 51.28 2.00e-66 245.00
IUUC-Ptt-103875 Puccinia triticina 63.69 1.00e-66 246.00
IUUC-Pte-104180 Pyrenophora teres 63.19 2.00e-68 252.00
IUUC-Pyt-104552 Pyrenophora triticirepentis 63.19 2.00e-68 253.00
IUUC-Rno-105506 Rattus norvegicus 92.50 7.00e-132 462.00
IUUC-Sce-106375 Saccharomyces cerevisiae 57.53 2.00e-68 251.00
IUUC-Sha-107585 Sarcophilus harrisii 95.65 3.00e-77 279.00
IUUC-Sja-107871 Schizosaccharomyces japonicus 61.54 3.00e-71 261.00
IUUC-Spo-108282 Schizosaccharomyces pombe 56.09 4.00e-71 260.00
IUUC-Smo-109561 Selaginella moellendorffii 40.93 2.00e-31 130.00
IUUC-Sit-110577 Setaria italica 37.89 6.00e-27 115.00
IUUC-Sly-111719 Solanum lycopersicum 38.36 1.00e-27 117.00
IUUC-Stu-112752 Solanum tuberosum 38.51 7.00e-29 121.00
IUUC-Sar-113701 Sorex araneus 85.94 1.00e-126 445.00
IUUC-Sbi-114308 Sorghum bicolor 37.31 1.00e-27 117.00
IUUC-Sre-115125 Sporisorium reilianum 64.67 7.00e-70 257.00
IUUC-Tgu-117039 Taeniopygia guttata 97.83 3.00e-78 283.00
IUUC-Tru-117939 Takifugu rubripes 78.72 4.00e-106 377.00
IUUC-Tsy-118852 Tarsius syrichta 85.19 1.00e-62 231.00
IUUC-Tni-120356 Tetraodon nigroviridis 81.57 5.00e-105 373.00
IUUC-Tca-121422 Theobroma cacao 34.87 3.00e-29 123.00
IUUC-Tre-122035 Trichoderma reesei 56.44 5.00e-68 250.00
IUUC-Tvi-122649 Trichoderma virens 56.44 2.00e-68 252.00
IUUC-Tae-124146 Triticum aestivum 32.65 2.00e-27 116.00
IUUC-Tme-127015 Tuber melanosporum 55.91 5.00e-68 251.00
IUUC-Tbe-128024 Tupaia belangeri 85.93 3.00e-63 233.00
IUUC-Ttr-128474 Tursiops truncatus 92.00 7.00e-135 473.00
IUUC-Uma-129655 Ustilago maydis 65.22 4.00e-71 261.00
IUUC-Vda-129970 Verticillium dahliae 56.06 2.00e-65 242.00
IUUC-Vpa-130564 Vicugna pacos 98.52 9.00e-77 278.00
IUUC-Vvi-131597 Vitis vinifera 40.11 2.00e-29 124.00
IUUC-Xtr-132201 Xenopus tropicalis 79.34 1.00e-110 392.00
IUUC-Xma-133679 Xiphophorus maculatus 79.24 7.00e-108 383.00
IUUC-Yli-134489 Yarrowia lipolytica 59.24 5.00e-72 264.00
IUUC-Zma-135058 Zea mays 39.69 5.00e-29 122.00
Created Date 25-Jun-2017

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