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FLASH GENE

Symbol

P4HA1

contributors: SGE/npt - updated : 01-03-2017

HGNC name	prolyl 4-hydroxylase, alpha polypeptide I
HGNC id	8546

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

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 Cardiovascular heart         Lymphoid/Immune thymus       highly Respiratory respiratory tract larynx

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow       Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one Fe2OG dioxygenase domain
	one TPR repeat

conjugated

GlycoP

mono polymer

heteromer , dimer , tetramer

HOMOLOGY

interspecies	homolog to murine P4ha1 (95.3pc)
	homolog to rattus P4ha1 (94.0pc)

Homologene

FAMILY

P4HA family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	catalyzing the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains
	P4HA1 and P4HA2 are required for collagen deposition
	P4HA1, P4HA2, and PLOD2 mediate remodeling of ECM composition, alignment, and mechanical properties in response to hypoxia

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of the heterodimer (alpha 1) 2, beta 2, type I
	procollagen-proline, 2-oxoglutarate 4-dioxygenase (prolyl-4-hydroxylase), alpha polypeptide
	component of prolyl 4-hydroxylase composed of two identical alpha subunits and two beta subunits

INTERACTION

DNA

RNA

small molecule	metal binding, cofactor,
	binding one Fe2+ ion per subunit
	ascorbate

protein

HIF1A activates expression of genes encoding collagen prolyl (P4HA1 and P4HA2) and lysyl (PLOD2) hydroxylases

cell & other

REGULATION

inhibited by

enzyme inhibited by poly (L-proline)

Other

HNRNPA2B1 modulates P4HA1 mRNA stability (Fahling 2006)

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in atherosclerotic plaque

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS