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FLASH GENE

Symbol

P4HB

contributors: mct/npt - updated : 23-03-2015

HGNC name	procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide
HGNC id	8548

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000918 11 - 2596 NP_000909 57 508 - 2004 15358778

EXPRESSION

Type	ubiquitous

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 blood / hematopoietic spleen         Digestive esophagus       highly   salivary gland       highly   stomach       highly Endocrine adrenal gland       highly Respiratory respiratory tract trachea     predominantly Urinary kidney         Visual eye anterior segment cornea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Lymphoid

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four thioredoxin-like domains, two of which, like thioredoxin itself, have redox-active catalytic sites (Byrne 2009)
	other functional domains
	a C-terminal acidic tail containing the KDEL (Lys-Asp-Glu-Leu) ER-retention signal (Byrne 2009)

mono polymer

heteromer , dimer

HOMOLOGY

intraspecies

homolog to avian erythroblastic leukemia viral (v-erb-a) oncogene 2

Homologene

FAMILY

protein disulfide isomerase family

CATEGORY

enzyme , protooncogene

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum

basic FUNCTION	catalyzing the rearrangement of -S-S- bonds in proteins
	having ability to act as a chaperone that inhibits aggregation of misfolded proteins in a concentration-dependent manner, and ability to bind thyroid hormone
	playing a role in both the influx and efflux of S-nitrosothiol-bound nitric oxide
	catalyzes the oxidation reduction and isomerization of disulfide bonds
	it is possible that P4HB is particularly important for the skeleton whereas other disulfide isomerases are more prominent in other tissues

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

heterodimerizing with P4HA, P4HA2

INTERACTION

DNA

RNA

small molecule

protein	thyroid hormone binding
	cell surface trafficking of P4HB, PDIA3, and PDIA6 is dependent on KDELR1, which travels in a dynamic manner to the cell surface

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

OIL1

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed neuromuscular laterale amyotrophy sclerosis   may be a therapeutic target to prevent SOD1 aggregation, in ALS

ANIMAL & CELL MODELS