Seroatlas · Human Serome Atlas

P4HTM

Transmembrane prolyl 4-hydroxylase

Also known as: EGLN4, FLJ20262, HIFPH4, P4H-TM, P4HTM_HUMAN, PH-4, PH4, PHD4

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NXG6
Gene: P4HTM
Ensembl: ENSG00000178467
Chromosome: 3
Canonical length: 502 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Vesicles,Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

The product of this gene belongs to the family of prolyl 4-hydroxylases. This protein is a prolyl hydroxylase that may be involved in the degradation of hypoxia-inducible transcription factors under normoxia. It plays a role in adaptation to hypoxia and may be related to cellular oxygen sensing. Alternatively spliced variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

502 residues, UniProt reviewed canonical sequence.

>Q9NXG6|P4HTM
     1  MAAAAVTGQR PETAAAEEAS RPQWAPPDHC QAQAAAGLGD GEDAPVRPLC KPRGICSRAY
    61  FLVLMVFVHL YLGNVLALLL FVHYSNGDES SDPGPQHRAQ GPGPEPTLGP LTRLEGIKVG
   121  HERKVQLVTD RDHFIRTLSL KPLLFEIPGF LTDEECRLII HLAQMKGLQR SQILPTEEYE
   181  EAMSTMQVSQ LDLFRLLDQN RDGHLQLREV LAQTRLGNGW WMTPESIQEM YAAIKADPDG
   241  DGVLSLQEFS NMDLRDFHKY MRSHKAESSE LVRNSHHTWL YQGEGAHHIM RAIRQRVLRL
   301  TRLSPEIVEL SEPLQVVRYG EGGHYHAHVD SGPVYPETIC SHTKLVANES VPFETSCRYM
   361  TVLFYLNNVT GGGETVFPVA DNRTYDEMSL IQDDVDLRDT RRHCDKGNLR VKPQQGTAVF
   421  WYNYLPDGQG WVGDVDDYSL HGGCLVTRGT KWIANNWINV DPSRARQALF QQEMARLARE
   481  GGTDSQPEWA LDRAYRDARV EL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against P4HTM can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Other membrane
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.34
Highest tissue expression: 161 nTPM

Expression across tissuesHPA

Tissue

choroid plexus: 161 nTPM
pituitary gland: 87 nTPM
cerebral cortex: 68 nTPM
basal ganglia: 66 nTPM
hypothalamus: 62 nTPM
hippocampal formation: 55 nTPM

Single-cell type

fallopian tube ciliated cells: 277 nCPM
respiratory ciliated cells: 246 nCPM
late spermatids: 230 nCPM
pancreatic islet cells: 150 nCPM
epididymal efferent duct ciliated cells: 147 nCPM
early spermatids: 128 nCPM

Immune cell

T-reg: 17 nTPM
naive B-cell: 16 nTPM
naive CD4 T-cell: 13 nTPM
memory CD4 T-cell: 12 nTPM
memory CD8 T-cell: 12 nTPM
MAIT T-cell: 9.6 nTPM

Brain region

choroid plexus: 147 nTPM
hypothalamus: 77 nTPM
cerebral cortex: 76 nTPM
thalamus: 69 nTPM
hippocampal formation: 68 nTPM
basal ganglia: 67 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about P4HTM.

Disease | AllUniProt

Conditions P4HTM is implicated in, by any mechanism.

Hypotonia, hyperventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities (HIDEA) MIM:618493

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 126 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
Intellectual disability
Poirier-Bienvenu neurodevelopmental syndrome

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1
gnomAD pLI: 0
gnomAD missense Z: 1.54
DepMap mean gene effect: -0.12
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

regulation of erythrocyte differentiation

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads P4HTM as an antibody target. Whether an autoantibody or antibody against P4HTM could matter depends on whether native P4HTM is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

P4HTM is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label P4HTM as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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