C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: phenylalanine hydroxylase
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000171759 PAH 9606 - 12:102836885-102958410 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000307000 PAH-002 102838321-102917254 protein_coding
  ENST00000546708 PAH-007 102917172-102950850 processed_transcript
  ENST00000546844 PAH-009 102894735-102950846 protein_coding
  ENST00000547319 PAH-004 102916573-102958410 processed_transcript
  ENST00000548677 PAH-010 102894803-102915192 processed_transcript
  ENST00000548928 PAH-011 102886045-102912880 processed_transcript
  ENST00000549111 PAH-003 102854686-102917226 retained_intron
  ENST00000549247 PAH-014 102843646-102853415 retained_intron
  ENST00000550405 PAH-008 102946582-102950845 retained_intron
  ENST00000550978 PAH-012 102877286-102917114 retained_intron
  ENST00000551114 PAH-015 102843714-102852260 retained_intron
  ENST00000551337 PAH-005 102877495-102958366 protein_coding
  ENST00000551988 PAH-013 102855279-102917219 processed_transcript
  ENST00000552251 PAH-006 102945088-102950868 processed_transcript
  ENST00000553106 PAH-001 102836885-102917603 protein_coding

Expression Patterns

Heat Map
Numeric Values
Transcript'; BladderBrainBreastColonHeartKidneyLiverMuscleOvaryPlacentaTestisENST00000307000ENST00000546708ENST00000546844ENST00000548928ENST00000549111ENST00000549247ENST00000551114ENST00000551988ENST00000552251
Transcript ID Bladder Brain Breast Colon Heart Kidney Liver Muscle Ovary Placenta Testis
ENST00000307000 N/A 0.781±0.21 0.303±0.00 0.016±0.00 0.039±0.00 39.829±34.42 N/A N/A 0.033±0.01 N/A 0.520±0.02
ENST00000546708 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.695±0.00
ENST00000546844 N/A N/A N/A N/A N/A N/A N/A N/A 0.038±0.00 N/A 3.732±0.00
ENST00000548928 N/A N/A N/A N/A N/A N/A N/A 0.534±0.00 N/A N/A N/A
ENST00000549111 N/A N/A 0.326±0.00 N/A N/A N/A N/A N/A N/A N/A N/A
ENST00000549247 49.264±0.00 N/A N/A N/A N/A N/A 0.251±0.00 N/A N/A N/A N/A
ENST00000551114 N/A N/A N/A N/A N/A N/A N/A N/A N/A 0.064±0.00 N/A
ENST00000551988 62.732±0.00 N/A N/A N/A N/A N/A 0.312±0.00 N/A N/A N/A N/A
ENST00000552251 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 3.906±2.02

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0008O5 CIL_0008O5_0001 VISTA 12:102651485-103252902
CIL_0008WZ CIL_0008WZ_0001 VISTA 12:102677571-103278832
CIL_0008TA CIL_0008TA_0001 VISTA 12:102711332-103315018
CIL_0009AL CIL_0009AL_0001 VISTA 12:102712107-103314512
CIL_0008NV CIL_0008NV_0001 VISTA 12:102712346-103314376
CIL_0008OX CIL_0008OX_0001 VISTA 12:102790564-103391741
CIL_0007I3 CIL_0007I3_0002 CGP 12:102836885-102960516

Gene Ontology
GO IDEvidence TypeGO Description
GO:0004505 IEA phenylalanine 4-monooxygenase activity
GO:0005506 IEA iron ion binding
GO:0005829 TAS cytosol
GO:0006559 IEA L-phenylalanine catabolic process
GO:0008152 IEA metabolic process
GO:0008652 TAS cellular amino acid biosynthetic process
GO:0009072 IEA aromatic amino acid family metabolic process
GO:0016597 IEA amino acid binding
GO:0016714 IEA oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen
GO:0034641 TAS cellular nitrogen compound metabolic process
GO:0042136 NAS neurotransmitter biosynthetic process
GO:0042423 NAS catecholamine biosynthetic process
GO:0044281 TAS small molecule metabolic process
GO:0055114 IEA oxidation-reduction process
GO:0070062 IDA extracellular vesicular exosome

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000020143 pah phenylalanine hydroxylase protein_coding Danio_rerio
ENSMUSG00000020051 Pah phenylalanine hydroxylase protein_coding Mus_musculus

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