DHFRP1 dihydrofolate reductase pseudogene 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DHFRP1provided by HGNC
Official Full Name: dihydrofolate reductase pseudogene 1provided by HGNC
Primary source: HGNC:HGNC:2862
See related: AllianceGenome:HGNC:2862
Gene type: pseudo
RefSeq status: INFERRED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary: Enables anion binding activity; dihydrofolate reductase activity; and nucleic acid binding activity. Involved in dihydrofolate metabolic process; negative regulation of translation; and pteridine-containing compound biosynthetic process. Located in mitochondrion. [provided by Alliance of Genome Resources, Apr 2022]
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Genomic context

Location:: 18q11.2

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (26167862..26171357, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (26362502..26365997, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (23747826..23751321, complement)

Chromosome 18 - NC_000018.10 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?

The SNP discovered here is an artifact caused by contamination by the genomic DNA of the pseudogene DHFRP1.
Title: An artifact derived from a pseudogene led to the discovery of microRNA binding site polymorphism in the 3'-untranslated region of the human dihydrofolate reductase gene.

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

PMC85091P1 (e-PCR)
- UniSTS:273465

PMC303366P3 (e-PCR)
- UniSTS:272510

RH70434 (e-PCR)
- UniSTS:89482

PMC149466P9 (e-PCR)
- UniSTS:271044

PMC89807P1 (e-PCR)
- UniSTS:273613

PMC137126P1 (e-PCR)
- UniSTS:270818

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables NADP binding	IBA Inferred from Biological aspect of Ancestor more info
enables NADPH binding	IDA Inferred from Direct Assay more info	PubMed
enables dihydrofolate reductase activity	IBA Inferred from Biological aspect of Ancestor more info
enables dihydrofolate reductase activity	IDA Inferred from Direct Assay more info	PubMed
enables dihydrofolate reductase activity	ISS Inferred from Sequence or Structural Similarity more info
enables dihydrofolate reductase activity	NAS Non-traceable Author Statement more info	PubMed
enables folic acid binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables mRNA regulatory element binding translation repressor activity	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific mRNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in axon regeneration	ISS Inferred from Sequence or Structural Similarity more info
involved_in dihydrofolate metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in dihydrofolate metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in folic acid metabolic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in folic acid metabolic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in glycine biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of translation	IDA Inferred from Direct Assay more info	PubMed
involved_in one-carbon metabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of nitric-oxide synthase activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of removal of superoxide radicals	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to methotrexate	IEA Inferred from Electronic Annotation more info
involved_in tetrahydrobiopterin biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in tetrahydrobiopterin biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in tetrahydrofolate biosynthetic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in tetrahydrofolate biosynthetic process	IDA Inferred from Direct Assay more info	PubMed
involved_in tetrahydrofolate biosynthetic process	IEA Inferred from Electronic Annotation more info
involved_in tetrahydrofolate metabolic process	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
is_active_in mitochondrion	IBA Inferred from Biological aspect of Ancestor more info
located_in mitochondrion	IDA Inferred from Direct Assay more info

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.