P4HTM
entrez
54681
canonical
uniprot
Q9NXG6
canonical
ensembl
ENSG00000178467
resolver
ensp
ENSP00000341422
resolver
ensp
ENSP00000373235
resolver
ensp
ENSP00000795344
resolver
genesymbol
P4HTM
resolver
genesymbol_syn
PH4
resolver
hgnc
HGNC:28858
resolver
uniprot
Q6PAG6
resolver
uniprot
Q8TCJ9
resolver
uniprot
Q8WV55
resolver
uniprot
Q96F22
resolver
uniprot
Q9BW77
resolver
uniprot_entry
P4HTM_HUMAN
resolver
uniprot_sec
Q6PAG6
resolver
uniprot_sec
Q8TCJ9
resolver
uniprot_sec
Q8WV55
resolver
uniprot_sec
Q96F22
resolver
uniprot_sec
Q9BW77
resolver
amino_acid_sequence
MAAAAVTGQRPETAAAEEASRPQWAPPDHCQAQAAAGLGDGEDAPVRPLCKPRGICSRAYFLVLMVFVHLYLGNVLALLLFVHYSNGDESSDPGPQHRAQGPGPEPTLGPLTRLEGIKVGHERKVQLVTDRDHFIRTLSLKPLLFEIPGFLTDEECRLIIHLAQMKGLQRSQILPTEEYEEAMSTMQVSQLDLFRLLDQNRDGHLQLREVLAQTRLGNGWWMTPESIQEMYAAIKADPDGDGVLSLQEFSNMDLRDFHKYMRSHKAESSELVRNSHHTWLYQGEGAHHIMRAIRQRVLRLTRLSPEIVELSEPLQVVRYGEGGHYHAHVDSGPVYPETICSHTKLVANESVPFETSCRYMTVLFYLNNVTGGGETVFPVADNRTYDEMSLIQDDVDLRDTRRHCDKGNLRVKPQQGTAVFWYNYLPDGQGWVGDVDDYSLHGGCLVTRGTKWIANNWINVDPSRARQALFQQEMARLAREGGTDSQPEWALDRAYRDARVEL
uniprot
proteins
disease_involvement
DISEASE: Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (HIDEA) [MIM:618493]: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties. Disease onset is in infancy and death due to respiratory insufficiency may occur. {ECO:0000269|PubMed:30940925}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.14.11.29
uniprot
proteins
function
FUNCTION: Catalyzes the post-translational formation of 4-hydroxyproline in hypoxia-inducible factor (HIF) alpha proteins. Hydroxylates HIF1A at 'Pro-402' and 'Pro-564'. May function as a cellular oxygen sensor and, under normoxic conditions, may target HIF through the hydroxylation for proteasomal degradation via the von Hippel-Lindau ubiquitination complex. {ECO:0000269|PubMed:17726031}.
uniprot
proteins
mass_dalton
56661
uniprot
proteins
post_translational_modification
PTM: Glycosylated. {ECO:0000269|PubMed:17726031}.
uniprot
proteins
pubmed
12163023
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17726031
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
30940925
uniprot
proteins
sequence_length
502
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Endoplasmic reticulum membrane {ECO:0000269|PubMed:12163023, ECO:0000269|PubMed:17726031}; Single-pass type II membrane protein {ECO:0000269|PubMed:12163023, ECO:0000269|PubMed:17726031}.
uniprot
proteins
transmembrane_region
TRANSMEM 61..81; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins