Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	84842
Gene name	4-hydroxyphenylpyruvate dioxygenase like
Gene symbol	HPDL
Synonyms (NCBI Gene)	4-HPPD-LGLOXD1NEDSWMASPG83
Chromosome	1
Chromosome location	1p34.1
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

Show/Hide all (24)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018814	hsa-miR-335-5p	Microarray	18185580
MIRT1054109	hsa-miR-1207-5p	CLIP-seq
MIRT1054110	hsa-miR-1321	CLIP-seq
MIRT1054111	hsa-miR-203	CLIP-seq
MIRT1054112	hsa-miR-3128	CLIP-seq
MIRT1054113	hsa-miR-4269	CLIP-seq
MIRT1054114	hsa-miR-4270	CLIP-seq
MIRT1054115	hsa-miR-4441	CLIP-seq
MIRT1054116	hsa-miR-4502	CLIP-seq
MIRT1054117	hsa-miR-4694-3p	CLIP-seq
MIRT1054118	hsa-miR-4720-5p	CLIP-seq
MIRT1054119	hsa-miR-4736	CLIP-seq
MIRT1054120	hsa-miR-4739	CLIP-seq
MIRT1054121	hsa-miR-4756-5p	CLIP-seq
MIRT1054122	hsa-miR-4763-3p	CLIP-seq
MIRT1054123	hsa-miR-4799-3p	CLIP-seq
MIRT1054124	hsa-miR-548l	CLIP-seq
MIRT1054109	hsa-miR-1207-5p	CLIP-seq
MIRT1054112	hsa-miR-3128	CLIP-seq
MIRT1054113	hsa-miR-4269	CLIP-seq
MIRT1054118	hsa-miR-4720-5p	CLIP-seq
MIRT1054119	hsa-miR-4736	CLIP-seq
MIRT1054122	hsa-miR-4763-3p	CLIP-seq
MIRT1054123	hsa-miR-4799-3p	CLIP-seq

Show/Hide all (12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003868	Function	4-hydroxyphenylpyruvate dioxygenase activity	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	32707086, 34471290
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0009072	Process	Aromatic amino acid metabolic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016701	Function	Oxidoreductase activity, acting on single donors with incorporation of molecular oxygen	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050585	Function	4-hydroxymandelate synthase activity	IEA
GO:0050585	Function	4-hydroxymandelate synthase activity	IMP	34471290
GO:0051213	Function	Dioxygenase activity	IEA

MIM	HGNC	e!Ensembl
618994	28242	ENSG00000186603

Q96IR7

Protein name

4-hydroxyphenylpyruvate dioxygenase-like protein (HPD-like protein) (HPDL) (EC 1.13.11.46) (Glyoxalase domain-containing protein 1)

Protein function

Iron-dependent dioxygenase that catalyzes the conversion of 4-hydroxyphenylpyruvate (4-HPPA) to 4-hydroxymandelate (4-HMA) in the mitochondria, one of the steps in the biosynthesis of coenzyme Q10 from tyrosine.

Family and domains

Sequence

MAAPALRLCHIAFHVPAGQPLARNLQRLFGFQPLASREVDGWRQLALRSGDAVFLVNEGA
GSGEPLYGLDPRHAVPSATNLCFDVADAGAATRELAALGCSVPVPPVRVRDAQGAATYAV
VSSPAGILSLTLLERAGYRGPFLPGFRPVSSAPGPGWVSRVDHLTLACTPGSSPTLLRWF
HDCLGFCHLPLSPGEDPELGLEMTAGFGLGGLRLTALQAQPGSIVPTLVLAESLPGATTR
QDQVEQFLARHKGPGLQHVGLYTPNIVEATEGVATAGGQFLAPPGAYYQQPGKERQIRAA
GHEPHLLARQGILLDGDKGKFLLQVFTKSLFTEDTFFLELIQRQGATGFGQGNIRALWQS
VQEQSARSQEA

Sequence length

371

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities	Pathogenic; Likely pathogenic	rs773333490, rs753787033, rs769373772, rs2149081651, rs1360472871, rs2149082294, rs752764598, rs1373739660, rs145372387, rs2149082096, rs777607274, rs774014588, rs1644248782, rs758290491, rs1644265859 View all (5 more)	RCV001543619 RCV001568410 RCV001568411 RCV001597557 RCV001597558 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic ataxia	Pathogenic	rs1391712320	RCV001819964	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic paraplegia	Likely pathogenic; Pathogenic	rs753787033, rs769373772, rs1360472871, rs1644253428, rs145372387, rs758727749, rs2149081821, rs116004018, rs777360560, rs2149082096, rs1373645311, rs1446895238, rs777607274, rs2149081832, rs1167901073 View all (9 more)	RCV001849530 RCV001849531 RCV001849532 RCV001849568 RCV001849574 View all (20 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic paraplegia 83, autosomal recessive	Pathogenic	rs1391712320	RCV001258386	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 83	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HPDL-related disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEIGH SYNDROME	—	ClinGen, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Neoplasms	Breast neoplasm	Pubtator	38227562	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25852282	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35985664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	Pubtator	35985664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25852282		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	40368591	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	40368591	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	32707086, 39408944	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	35985664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	32707086	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic Paraplegia Hereditary	Hereditary spastic paraplegia	Pubtator	40368591	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

HPDL (4-hydroxyphenylpyruvate dioxygenase like)