Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

HPDL

contributors: mct - updated : 30-09-2020

HGNC name	4-hydroxyphenylpyruvate dioxygenase-like
HGNC id	28242

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HPDLD HPDL deficiency SPG83 spastic paraplegia 83
Location	1p34.1      Physical location : 45.792.544 - 45.794.344
Synonym name	glyoxalase domain containing 1
Synonym symbol(s)	MGC15668, RP4-534D1.1, GLOXD1, 4-HPPD-L

DNA

TYPE	functioning gene
STRUCTURE	1.82 kb     1 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032756 1 - 1816 NP_116145 39 371 - 2020 32707086

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive stomach         Reproductive female system placenta         female system uterus cervix

cell lineage
cell lines
fluid/secretion	blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

4HPPD family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,mitochondria
text	is a mitochondrial protein

basic FUNCTION	encodes a protein that may function like 4-hydroxyphenylpyruvate dioxygenase
	is an important enzyme in the catabolic pathway of tyrosine in the liver
	might play a role in oxidative phosphorylation (OXPHOS)
	having dioxygenase activity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HPDLD , SPG83

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   HPDL were down-regulated in HCC (hepatocellular carcinoma)cell lines through promoter methylation

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	CNV of HPDL is not only related to the patient's prognosis, but also related to gene methylation and expression levels affecting the patient's survival time in breast cancer
Therapy target

ANIMAL & CELL MODELS