HPDL 4-hydroxyphenylpyruvate dioxygenase like [Homo sapiens (human)] - Gene

Summary

Official Symbol: HPDLprovided by HGNC
Official Full Name: 4-hydroxyphenylpyruvate dioxygenase likeprovided by HGNC
Primary source: HGNC:HGNC:28242
See related: Ensembl:ENSG00000186603 MIM:618994; AllianceGenome:HGNC:28242
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SPG83; GLOXD1; NEDSWMA; 4-HPPD-L
Summary: The protein encoded by this intronless gene localizes to mitochondria, where it may function as 4-hydroxyphenylpyruvate dioxygenase. Clinical studies have identified several bi-allelic variants in this gene that lower the level of the encoded protein and lead to a clinically variable form of pediatric-onset spastic movement disorder. [provided by RefSeq, Aug 2020]
Orthologs: mouse all
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Genomic context

Location:: 1p34.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (45326895..45328710)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (45198451..45200266)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (45792567..45794382)

Chromosome 1 - NC_000001.11 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?

A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.
Title: A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.
HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.
Title: HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders.
Novel bi-allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient.
Title: Novel bi-allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient.
Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Title: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.
Title: Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities MedGen: C5436628 OMIM: 619026 GeneReviews: Not available	Compare labs
Spastic paraplegia 83, autosomal recessive MedGen: C5436637 OMIM: 619027 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 4-hydroxyphenylpyruvate dioxygenase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in aromatic amino acid metabolic process	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in mitochondrial matrix	TAS Traceable Author Statement more info
located_in mitochondrion	HTP more info	PubMed
located_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: 4-hydroxyphenylpyruvate dioxygenase-like protein

Names: HPD-like protein; glyoxalase domain-containing protein 1

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.

mRNA and Protein(s)

NM_032756.4 → NP_116145.1 4-hydroxyphenylpyruvate dioxygenase-like protein

See identical proteins and their annotated locations for NP_116145.1

Status: VALIDATED

Source sequence(s)

AL359540

Consensus CDS

CCDS519.1

UniProtKB/Swiss-Prot

B2R9B0, Q96IR7

Related

ENSP00000335060.3, ENST00000334815.6

Conserved Domains (3) summary

cd07250
Location:158 → 363

HPPD_C_like; C-terminal domain of 4-hydroxyphenylpyruvate dioxygenase (HppD) and hydroxymandelate Synthase (HmaS)

TIGR01263
Location:10 → 368

4HPPD; 4-hydroxyphenylpyruvate dioxygenase

cl14632
Location:10 → 148

Glo_EDI_BRP_like; This domain superfamily is found in a variety of structurally related metalloproteins, including the type I extradiol dioxygenases, glyoxalase I and a group of antibiotic resistance proteins