full name
prolyl 4-hydroxylase subunit beta

synonyms
DSI, ERBA2L, GIT, P4Hbeta, PDI, PDIA1, PHDB, PO4DB, PO4HB, PROHB, P4HB, ENSG00000185624

HGNC
HGNC:8548

Entrez Gene
Gene:5034

ENSEMBL
ENSG00000185624

location
chr: 17
start: 79801034
stop: 79818566
strand: -

OMIM
OMIM:176790: P4HB (Autosomal dominant inheritance)
OMIM:112240: Cole-Carpenter syndrome 1

transcripts
NM_000918.3

pathways
Cellular responses to stress [NCBI:1270414] [REACTOME:R-HSA-2262752] [PUBMED:15709958]
Chylomicron-mediated lipid transport [NCBI:1270006] [REACTOME:R-HSA-174800]
Collagen biosynthesis and modifying enzymes [NCBI:1270246] [REACTOME:R-HSA-1650814] [PUBMED:14698617] [PUBMED:17550969]
Collagen formation [NCBI:1270245] [REACTOME:R-HSA-1474290] [PUBMED:7574488] [PUBMED:19693541]
Detoxification of Reactive Oxygen Species [NCBI:1270420] [REACTOME:R-HSA-3299685] [PUBMED:23469953] [PUBMED:23268465] [PUBMED:20064600] [PUBMED:22286106] [PUBMED:21473702] [PUBMED:22196163] [PUBMED:21375475] [PUBMED:19061483] [PUBMED:21453242]
Extracellular matrix organization [NCBI:1270244] [REACTOME:R-HSA-1474244] [PUBMED:21123617] [PUBMED:21917992] [PUBMED:12845610]
Hedgehog ligand biogenesis [NCBI:1269634] [REACTOME:R-HSA-5358346] [PUBMED:8824192] [PUBMED:11486055] [PUBMED:18585355] [PUBMED:23719536] [PUBMED:9593755] [PUBMED:21357747] [PUBMED:22902404] [PUBMED:23565096] [PUBMED:15163793] [PUBMED:11395778] [PUBMED:21257310] [PUBMED:16396909] [PUBMED:15075292]
Lipid digestion, mobilization, and transport [NCBI:1270002] [REACTOME:R-HSA-73923]
Lipoprotein metabolism [NCBI:1270005] [REACTOME:R-HSA-174824]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Protein processing in endoplasmic reticulum [NCBI:167325] [KEGG:hsa04141] [PUBMED:20347046] [PUBMED:18023214] [PUBMED:20219571] [PUBMED:19491040] [PUBMED:20112977]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Signaling by Hedgehog [NCBI:1269633] [REACTOME:R-HSA-5358351] [PUBMED:19081070] [PUBMED:21801010] [PUBMED:15549094] [PUBMED:23719536]
VLDL biosynthesis [NCBI:1427852] [REACTOME:R-HSA-8866423] [PUBMED:11369260]
VLDL interactions [NCBI:1427851] [REACTOME:R-HSA-8855121] [PUBMED:22461740] [PUBMED:12870663] [PUBMED:25544176] [PUBMED:20525064] [PUBMED:14748713] [PUBMED:22510808]