Pu Punch [Drosophila melanogaster (fruit fly)] - Gene

Summary

Official Symbol: Puprovided by FlyBase
Official Full Name: Punchprovided by FlyBase
Primary source: FLYBASE:FBgn0003162
Locus tag: Dmel_CG9441
See related: AllianceGenome:FB:FBgn0003162
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Drosophila melanogaster
Lineage: Eukaryota; Metazoa; Ecdysozoa; Arthropoda; Hexapoda; Insecta; Pterygota; Neoptera; Endopterygota; Diptera; Brachycera; Muscomorpha; Ephydroidea; Drosophilidae; Drosophila; Sophophora
Also known as: CG9441; DGTPCH; Dmel\CG9441; Gch1; GCH1; Gr; GTPC; GTPCH; l(2)57Cf; p[Gr]; upi
Summary: Enables GTP cyclohydrolase I activity and GTP cyclohydrolase I regulator activity. Involved in several processes, including compound eye pigmentation; preblastoderm mitotic cell cycle; and pteridine biosynthetic process. Located in cytoplasm. Is expressed in several structures, including adult head; imaginal disc; larval ventral nerve cord; and oocyte. Human ortholog(s) of this gene implicated in several diseases, including BH4-deficient hyperphenylalaninemia B; diabetic angiopathy; movement disease (multiple); sickle cell anemia; and type 2 diabetes mellitus. Orthologous to human GCH1 (GTP cyclohydrolase 1). [provided by Alliance of Genome Resources, Nov 2024]
Orthologs: all
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Genomic context

Location:: 57C7-57C8; 2-93 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
Release 6.54	current	Release 6 plus ISO1 MT (GCF_000001215.4)	2R	NT_033778.4 (21175315..21182608)
Release 5.57	previous assembly	Release 5 (GCF_000001215.2)	2R	NT_033778.3 (17062820..17070113)

Chromosome 2R - NT_033778.4 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Ube3 regulates Punch/GTP cyclohydrolase I activity in the fly brain.
Title: Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism.
identify two different modes of regulation of the enzyme mediated through the N-terminal domains
Title: A typical N-terminal extensions confer novel regulatory properties on GTP cyclohydrolase isoforms in Drosophila melanogaster.

Submit: New GeneRIF Correction

Pathways from PubChem

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Homology

NCBI Orthologs

Orthologs from OrthoDB

Gene Ontology Provided by FlyBase

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP cyclohydrolase I activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTP cyclohydrolase I activity	IDA Inferred from Direct Assay more info	PubMed
enables GTP cyclohydrolase I activity	IEA Inferred from Electronic Annotation more info
enables GTP cyclohydrolase I regulator activity	IDA Inferred from Direct Assay more info	PubMed
enables zinc ion binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in compound eye pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cuticle pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in embryonic pattern specification	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in larval chitin-based cuticle development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in preblastoderm mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pteridine biosynthetic process	IC Inferred by Curator more info	PubMed
involved_in pteridine biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of epithelial cell migration, open tracheal system	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tetrahydrobiopterin biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in tetrahydrobiopterin biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in tetrahydrofolate biosynthetic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: punch

Names: CG9441-PA; CG9441-PB; CG9441-PC; GTP cyclohydrolase; GTP cyclohydrolase I; GTP cyclohydrolase I isoform c; Pu-PA; Pu-PB; Pu-PC; grape; unpigmented

NP_523801.2

EC 3.5.4.16

NP_726037.1

EC 3.5.4.16

NP_726038.1

EC 3.5.4.16

NCBI Reference Sequences (RefSeq)

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Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference assembly

Genomic

NT_033778.4 Reference assembly

Range

21175315..21182608

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_166430.3 → NP_726037.1 punch, isoform B [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_726037.1

Status: REVIEWED

UniProtKB/TrEMBL

C6TP60

Related

FBpp0071505

Conserved Domains (1) summary

cd00642
Location:90 → 272

GTP_cyclohydro1; GTP cyclohydrolase I (GTP-CH-I) catalyzes the conversion of GTP into dihydroneopterin triphosphate. The enzyme product is the precursor of tetrahydrofolate in eubacteria, fungi, and plants and of the folate analogs in methanogenic bacteria. In ...
NM_166431.4 → NP_726038.1 punch, isoform A [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_726038.1

Status: REVIEWED

UniProtKB/Swiss-Prot

P48596, Q6TY66, Q6TY71, Q6TY73, Q6TY74, Q6TY78, Q960S4, Q9W2J9, Q9W2K1, Q9Y0C8

Related

FBpp0071507

Conserved Domains (1) summary

cd00642
Location:141 → 323

GTP_cyclohydro1; GTP cyclohydrolase I (GTP-CH-I) catalyzes the conversion of GTP into dihydroneopterin triphosphate. The enzyme product is the precursor of tetrahydrofolate in eubacteria, fungi, and plants and of the folate analogs in methanogenic bacteria. In ...
NM_079077.4 → NP_523801.2 punch, isoform C [Drosophila melanogaster]

See identical proteins and their annotated locations for NP_523801.2

Status: REVIEWED

UniProtKB/TrEMBL

E4NKN2

Related

FBpp0071506

Conserved Domains (1) summary

cd00642
Location:125 → 307

GTP_cyclohydro1; GTP cyclohydrolase I (GTP-CH-I) catalyzes the conversion of GTP into dihydroneopterin triphosphate. The enzyme product is the precursor of tetrahydrofolate in eubacteria, fungi, and plants and of the folate analogs in methanogenic bacteria. In ...