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Gene: PAH (phenylalanine hydroxylase) Canis lupus familiaris

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Symbol:

PAH

Name:

phenylalanine hydroxylase

RGD ID:

12136798

Description:

ENCODES a protein that exhibits amino acid binding (ortholog); identical protein binding (ortholog); iron ion binding (ortholog); INVOLVED IN L-phenylalanine metabolic process (ortholog); protein hydroxylation (ortholog); tyrosine biosynthetic process (ortholog); PARTICIPATES IN phenylketonuria pathway; tyrosinemia type II pathway; tyrosinemia type III pathway; ASSOCIATED WITH autism spectrum disorder (ortholog); BH4-deficient hyperphenylalaninemia A (ortholog); breast cancer (ortholog); INTERACTS WITH phenobarbital

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

phenylalanine-4-hydroxylase

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Homo sapiens (human):	PAH (phenylalanine hydroxylase)	HGNC	HomoloGene, NCBI
Mus musculus (house mouse):	Pah (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Rattus norvegicus (Norway rat):	Pah (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chinchilla lanigera (long-tailed chinchilla):	Pah (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Pan paniscus (bonobo/pygmy chimpanzee):	PAH (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Pah (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Sus scrofa (pig):	PAH (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Chlorocebus sabaeus (green monkey):	PAH (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline
Heterocephalus glaber (naked mole-rat):	Pah (phenylalanine hydroxylase)	Transitive Ortholog Pipeline	Transitive Ortholog Pipeline

Latest Assembly:

CanFam3.1 - Dog CanFam3.1 Assembly

Position:

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	41,590,253 - 41,670,156 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	15	41,592,876 - 41,670,837 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	41,957,869 - 42,038,236 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	42,245,356 - 42,325,951 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	15	42,247,178 - 42,350,533 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	15	41,514,955 - 41,595,406 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	41,612,701 - 41,693,246 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	15	41,882,259 - 41,962,824 (-)	NCBI		UU_Cfam_GSD_1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autism spectrum disorder (ISO)

BH4-deficient hyperphenylalaninemia A (ISO)

breast cancer (ISO)

Chemical and Drug Induced Liver Injury (ISO)

congenital central hypoventilation syndrome (ISO)

Congenital Central Hypoventilation Syndrome 1 (ISO)

genetic disease (ISO)

Hereditary Neoplastic Syndromes (ISO)

Hyperphenylalaninemia, Non-Pku Mild (ISO)

intellectual disability (ISO)

Marfanoid Mental Retardation Syndrome, Autosomal (ISO)

Maternal Phenylketonuria (ISO)

phenylketonuria (ISO)

POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (ISO)

primary pulmonary hypertension 1 (ISO)

propionic acidemia (ISO)

RASopathy (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

phenobarbital (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

L-phenylalanine catabolic process (IEA)

L-phenylalanine metabolic process (ISO)

protein hydroxylation (ISO)

tyrosine biosynthetic process (ISO)

tyrosine biosynthetic process, by oxidation of phenylalanine (IEA,ISO)

Molecular Function

amino acid binding (ISO)

identical protein binding (ISO)

iron ion binding (IEA,ISO)

metal ion binding (IEA)

monooxygenase activity (IEA)

phenylalanine 4-monooxygenase activity (IEA,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

phenylketonuria pathway (ISO)

tyrosinemia type II pathway (ISO)

tyrosinemia type III pathway (ISO)

References

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

PAH
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	15	41,590,253 - 41,670,156 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	15	41,592,876 - 41,670,837 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	15	41,957,869 - 42,038,236 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	15	42,245,356 - 42,325,951 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	15	42,247,178 - 42,350,533 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	15	41,514,955 - 41,595,406 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	15	41,612,701 - 41,693,246 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	15	41,882,259 - 41,962,824 (-)	NCBI		UU_Cfam_GSD_1.0

PAH
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	102,836,889 - 102,958,441 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	102,836,889 - 102,958,410 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	103,230,667 - 103,352,219 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	101,756,234 - 101,835,511 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	101,734,570 - 101,813,848	NCBI
Celera	12	102,896,051 - 102,975,653 (-)	NCBI		Celera
Cytogenetic Map	12	q23.2	NCBI
HuRef	12	100,291,597 - 100,370,682 (-)	NCBI		HuRef
CHM1_1	12	103,199,004 - 103,278,175 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	12	102,797,868 - 102,919,265 (-)	NCBI		T2T-CHM13v2.0

Pah
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	87,357,657 - 87,419,999 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	87,357,657 - 87,419,998 (+)	Ensembl		GRCm39 Ensembl
GRCm38	10	87,521,795 - 87,584,137 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	87,521,795 - 87,584,136 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	86,984,540 - 87,046,882 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	86,951,768 - 87,013,930 (+)	NCBI		MGSCv36	mm8
Celera	10	89,475,828 - 89,562,695 (+)	NCBI		Celera
Cytogenetic Map	10	C1	NCBI
cM Map	10	43.64	NCBI

Pah
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	23,793,096 - 23,885,631 (+)	NCBI		GRCr8
mRatBN7.2	7	21,933,179 - 21,998,134 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	21,933,179 - 21,998,130 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	23,927,881 - 23,992,835 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	26,090,559 - 26,155,515 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	25,867,639 - 25,932,579 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	28,066,639 - 28,129,772 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	28,066,635 - 28,129,769 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	28,180,707 - 28,245,428 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	24,175,898 - 24,243,592 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	24,196,183 - 24,263,859 (+)	NCBI
Celera	7	19,108,301 - 19,168,259 (+)	NCBI		Celera
RH 3.4 Map	7	119.56	RGD
Cytogenetic Map	7	q13	NCBI

Pah
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955405	37,846,354 - 37,909,457 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955405	37,848,486 - 37,909,163 (-)	NCBI	ChiLan1.0	ChiLan1.0

PAH
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	10	110,904,004 - 110,982,422 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	110,900,401 - 110,978,818 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	100,417,267 - 100,496,888 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	103,811,761 - 103,891,726 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	103,811,761 - 103,891,726 (-)	Ensembl	panpan1.1		panPan2

Pah
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404945	18,306,664 - 18,401,497 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936492	11,342,518 - 11,412,209 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936492	11,342,566 - 11,412,323 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PAH
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	81,385,435 - 81,463,451 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	81,385,401 - 81,460,569 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	85,200,848 - 85,228,826 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PAH
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	11	98,065,869 - 98,140,011 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	98,063,199 - 98,139,285 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	146,870,938 - 146,945,036 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pah
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624750	5,527,638 - 5,601,964 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624750	5,527,720 - 5,598,173 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in PAH
898 total Variants

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	nervous system	reproductive system	respiratory system
5	4	4	22	21	16	6	6	6	6	26	16	12	14	10

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_038496465	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_038558862	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_038622784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_038688455	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_532671	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AAEX04000015	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JAAHUQ010000165	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JAAQRD010000020	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	JAAUVH010000372	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	REHQ01000015	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENSCAFT00000011719 ⟹ ENSCAFP00000010860

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
CanFam3.1 Ensembl	15	41,592,876 - 41,670,388 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00000063256 ⟹ ENSCAFP00000061230

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
CanFam3.1 Ensembl	15	41,592,876 - 41,670,388 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00000063802 ⟹ ENSCAFP00000047070

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
CanFam3.1 Ensembl	15	41,592,876 - 41,670,339 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00000075549 ⟹ ENSCAFP00000062954

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
CanFam3.1 Ensembl	15	41,592,876 - 41,670,388 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00000079440 ⟹ ENSCAFP00000059594

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
CanFam3.1 Ensembl	15	41,592,876 - 41,670,664 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00000081788 ⟹ ENSCAFP00000051238

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
CanFam3.1 Ensembl	15	41,592,876 - 41,670,837 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00845016828 ⟹ ENSCAFP00845013087

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
ROS_Cfam_1.0 Ensembl	15	42,247,178 - 42,350,533 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00845016927 ⟹ ENSCAFP00845013175

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
ROS_Cfam_1.0 Ensembl	15	42,247,178 - 42,326,515 (-)	Ensembl

Ensembl Acc Id:

ENSCAFT00845017000 ⟹ ENSCAFP00845013241

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
ROS_Cfam_1.0 Ensembl	15	42,247,178 - 42,326,515 (-)	Ensembl

RefSeq Acc Id:

XM_038496465 ⟹ XP_038352393

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
UMICH_Zoey_3.1	15	41,514,955 - 41,595,406 (-)	NCBI

RefSeq Acc Id:

XM_038558862 ⟹ XP_038414790

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
UU_Cfam_GSD_1.0	15	41,882,259 - 41,962,824 (-)	NCBI

RefSeq Acc Id:

XM_038622784 ⟹ XP_038478712

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
UNSW_CanFamBas_1.0	15	41,612,701 - 41,693,246 (-)	NCBI

RefSeq Acc Id:

XM_038688455 ⟹ XP_038544383

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
ROS_Cfam_1.0	15	42,245,356 - 42,325,951 (-)	NCBI

RefSeq Acc Id:

XM_532671 ⟹ XP_532671

Type:

CODING

Position:

Dog Assembly	Chr	Position (strand)	Source
CanFam3.1	15	41,590,253 - 41,670,156 (-)	NCBI
Dog10K_Boxer_Tasha	15	41,957,869 - 42,038,236 (-)	NCBI

Sequence:

show sequence

GCGTCAGGACAACGCCCACCGGGGGGCGTTGCCATGGACATCCTTGGAATCTGTCCTCTCCTCC
AGCACCAGGTTTAAAACCTCAGCAGCACGTGTCGCCTGCAGAACTGCCCGCCACCAAGGCCCCA
GCGGTAGGGACCAGGTGCACAGGGGCCGGCATGTCCGCGGAGGTCCTGGAACACCGGGGCTCCG
GCAGTAAGCTCTCCGACGGGCAGGAAACAAGCTACATTGAAGACAACTCCAACCAAAATGGTGC
CATATCACTGATCTTCTCACTCAAAGAAGAAATTGGTGCCCTGGCCAAAGTCTTGCGATTATTT
GAGGAGAATGATATAAACCTGACCCACATTGAATCCAGACCTTCTCGCTTAAAGAAAGATGAGT
ATGAATTTTTTACCTATCTGGATAAACGTAGTATGCCAGTCCTGGGAAACATCATCAAGATCTT
GAGGCATGACATTGGTGCCACTGTTCATGAGCTTTCCCGGGATAAGAAGAAAGACACAGTGCCC
TGGTTCCCAAGAACCATTCAAGAGCTCGACAGATTTGCCAACCAGATCCTCAGCTATGGAGCTG
AACTGGATGCAGACCATCCCGGTTTTAAAGATCCTGTGTATCGAGCAAGACGAAAGCAATTTGC
CGACATCGCCTACAACTACCGACATGGGCAGCCCATCCCTCAAGTGGAATACACTGAGGAAGAA
AAGAAAACATGGGGGACAGTATTCAGAACCCTGAAGTCCTTGTATAAAACCCACGCTTGCTACG
AGCACAATCATATCTTCCCACTTCTGGAAAAATACTGTGGCTTCCGTGAAGATAACATCCCCCA
GTTGGAAGAGGTTTCTCAATTTCTGCAGACTTGCACTGGATTCCGCCTCCGACCTGTGGCTGGC
CTGCTTTCCTCTCGGGATTTCTTGGGTGGCTTGGCTTTCCGAGTCTTCCACTGCACTCAGTACA
TCAGACACGGGTCCAAACCTATGTATACACCTGAACCTGACATCTGCCATGAGCTGTTGGGACA
CGTGCCCTTGTTTTCAGATCGTAGCTTTGCCCAGTTTTCCCAGGAAATTGGCCTTGCTTCTCTT
GGTGCACCTGATGAGTATATTGAGAAACTCGCCACAATTTACTGGTTTACTGTGGAATTTGGCC
TCTGCAAACAAGGAGACTCCATAAAAGCATATGGTGCTGGACTCCTATCATCTTTTGGTGAATT
ACAGTACTGCTTGTCTGACAAGCCAAAGCTTCTCCCCCTGGAGCTGGAGAAGACAGCCATCCAG
GAGTACACTGTCACAGAGTTCCAGCCCCTGTATTACGTGGCTGAGAGTTTTAATGATGCAAAGG
AGAAAGTAAGGAATTTTGCTGCTACCATCCCACGGCCTTTCTCAGTTCGTTATGACCCATACAC
TCAAAGAATTGAGGTCTTGGACAATACGCAGCAACTTAAAATTTTGGCCGACTCCATCAACAGT
GAAGTTGGAATCCTTTGTAGTGCCCTCCAGAAAATAAAGTGAAACCCATGGACAAAACCTGTCA
ACTGAGAATCTGTTCATGGAAATCCAACTACTTTCATTTCATCTGAAAAAGTTTGAAAAGCAAA
CCTTAATTTGAATTGACAGCCTTTAATCCTTTTTGGAACAAGATGGAGGATGAACAAATCAAAA
TAACTTGAAATGACAGCATATTAATGCATACCCAAAAGCATAATCTTTTGGGGTCATTTTTGAT
TTAAAGATGATAATCCTATACTCTCAATTTAGTTAAAATCAATAATCTGTCACAGTTCATCAAA
GTTAATTAAAATTGGGACCTGAAAAAAAATTGGGACCTGATTTGCTCAAGCTTCATATATGCTT
TTGTTACTTGCCATAGAAAATTCCTGAAGGAATATATATCACTCAATGTAAAACACAAGCCTGT
CATTAGAATTGAATTTGTTGATTTAATGTAAATCTTAACCTACAAAAGTCATTTTCTATTTCAG
TAAACTAAGATTCTAGTTATTGCTGTGCCTTACCCATGTAGATTTCCTTTAATTCATGAGCCCA
TTAAAATAGTTATAAAAATCGAAGTTCATAGCATAATATGAAAGCATTTCTGTATAGTTTATTG
GACTCATAGATACTGTTGTAGAAGGTAATAGAACTTCTCACCTGACTTTCACAACTTTCAATAT
CATTTTCCAATTAATTGTTATCTGGTTTGGAGATATTTTGCAGACATGTGTGATGCAACAGATG
CTAACCGAAGGCTTAACTGAGAGATATTCCATAATACTCATTGAAATAATAAAGGAATACATTA
TTAAAAAGCAAATCCTCAAACAAAAGTGAGAATTTTAGTTATGTTTAAAAAAAGACAAGTGGTT
AGAAAATTTTGCAGTTTCAAATGTTTCTTAGAAGGAAATATTCATCTCCATTGCCTGAGAAATA
CTTTAACTGGATAATCTTGTGACATGAAAAAATGATCAGCCTCAGATTTCCAATCCATCACAGG
TCACTGTGATAACCTAAGTTATGTCTGGATGGTCAACAGACTGATTTCTGTTGGCATATGTTTT
ACTGAGAAACAGCAGGGAGAATAGTAGCATCTTTAAAGCTATGCTGAAATTTTCATGCCACTTT
AACACTTTATTTTGGAAATAGTTAAATCTTAAAGGATTTGCATAGTATTTCTTCACATGTGATT
CTCAGACCAGCTATATCATCATCAACAATAAATCCTGGGCACATCCCAGTTCTATCCAACTAGA
ATATCTGGGGATGGAGCACTAAGATCTGTATTTTTAAGTATCCCAGATGGTTTTTTTTTTTTTA
ATTATGGCCAGCCAAGTCCATTTGGTACATTACATTTGAGAAAACTTGACTTCTGGTGGCCAGT
TCTGCCAATTGCTGATTATGTCGCCTTGCAAAATTTACTTTGGATCTCGGTTTTACTTGAGCAA
TGAAGGAGCTTAACTGGATAAATCAAGTTTTCTTACAGTCTTGGAATACAATTCAAATGCTGAC
ATATGTCTTTAAACAGATGTCCCTGATCCACTAACAGTGGGTAATAATACCAGCCCAAATATCC
TACCTGGGTGGAAAGAGCAATTTGGTCTGATGTATCTGAGATCTCATTGTTTGAAGTTGGGTTT
TCACCCCTGTGTTTATTTCCTCATGCCTCTGTAGAACCCACCGACAAATGTTTATTCTAGAAGT
GGTAATGTTGTTTTTCTGGTTTCTTTAGACCCCAAACACTCTGCAAAGGGACTATTTTGATAAA
TATCTCTGTACAATAAACATATATCAGAGAACCTCTTGATTTTGGAACTAAAATATTTTATAGT
ATTTTAGACTAGATATCTTATTTTGTAGTGATTTTTAGTCTTACTGAAAATAATTTAATGTGTT
TTAAGATAAAGCTTAGGTTTAGTTTGCAATTTTGCAGAAAGAATTACATACTGAATAGAAGATA
GTCTTTGATTTTTTTAGTAATGTGTTACCTAGTACTTAGCTCTTTTTATCTGGATATATAAACC
CAACCAACAGCAAAGGATTCAATATATTTTCATGTGTCAGTATTATCATCTGTTTAATATTTAG
TAAATGAGCTCTTTTTAAAGAAACAATAGTAATGCTTTACTGATAGTTATCCTATTGTGTCCAA
AAAGGAGAAATACATGTAAGAACATTCAAATTTTTAGTACTAGTGTTCAATAAGTTTCTAAAAG
GATGAATTTAAATTTCAATTCTAGGTTCCTAAGTTATATGACTTAACTGTGTATCAAAAAATCT
ACACTAAAATGTCAACTTCATAATATCATGAATCTTGCCTGTCTTCATCTCTAAAAGCCTTAGC
ATGTATTACATAGTAGGTGCTTAATAATCTTTAAAAAAATTTCTGAGTGAGGCAAATCATAGAT
GGTGTAGTGAAGATTATCTCACAAATAGGCTATTTTGCAAGAAAAAGTTGAGAAATAACTAAAT
TTGCAACTTTTCCCTTTTAAATGCTGTAGGACATTTTGCATCTTAATCTAATTTATGGTCTAAA
AAAGATACTGTGCTTTTAGACTAGATTATGGCTAGGTGGTTTGTATATATACTGCTTCAACAAT
AACTGGCATATGAAAGTTCTTAATAAATGTTTATTAATTAA

hide sequence

Protein Sequences


Protein RefSeqs	XP_038352393	(Get FASTA)	NCBI Sequence Viewer
	XP_038414790	(Get FASTA)	NCBI Sequence Viewer
	XP_038478712	(Get FASTA)	NCBI Sequence Viewer
	XP_038544383	(Get FASTA)	NCBI Sequence Viewer
	XP_532671	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCAFP00000010860.3
	ENSCAFP00000059594.2
	ENSCAFP00000062954.1
	ENSCAFP00030015143.1
	ENSCAFP00030015233.1
	ENSCAFP00040027868.1
	ENSCAFP00040028043.1
	ENSCAFP00040028139.1
	ENSCAFP00845013087
	ENSCAFP00845013087.1
	ENSCAFP00845013175.1
	ENSCAFP00845013241.1

RefSeq Acc Id:

XP_532671 ⟸ XM_532671

- UniProtKB:

A0A8C0LPC7 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSAEVLEHRGSGSKLSDGQETSYIEDNSNQNGAISLIFSLKEEIGALAKVLRLFEENDINLTHI
ESRPSRLKKDEYEFFTYLDKRSMPVLGNIIKILRHDIGATVHELSRDKKKDTVPWFPRTIQELD
RFANQILSYGAELDADHPGFKDPVYRARRKQFADIAYNYRHGQPIPQVEYTEEEKKTWGTVFRT
LKSLYKTHACYEHNHIFPLLEKYCGFREDNIPQLEEVSQFLQTCTGFRLRPVAGLLSSRDFLGG
LAFRVFHCTQYIRHGSKPMYTPEPDICHELLGHVPLFSDRSFAQFSQEIGLASLGAPDEYIEKL
ATIYWFTVEFGLCKQGDSIKAYGAGLLSSFGELQYCLSDKPKLLPLELEKTAIQEYTVTEFQPL
YYVAESFNDAKEKVRNFAATIPRPFSVRYDPYTQRIEVLDNTQQLKILADSINSEVGILCSALQ
KIK

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Ensembl Acc Id:

ENSCAFP00000010860 ⟸ ENSCAFT00000011719

Ensembl Acc Id:

ENSCAFP00000059594 ⟸ ENSCAFT00000079440

Ensembl Acc Id:

ENSCAFP00000061230 ⟸ ENSCAFT00000063256

Ensembl Acc Id:

ENSCAFP00000047070 ⟸ ENSCAFT00000063802

Ensembl Acc Id:

ENSCAFP00000062954 ⟸ ENSCAFT00000075549

Ensembl Acc Id:

ENSCAFP00000051238 ⟸ ENSCAFT00000081788

RefSeq Acc Id:

XP_038352393 ⟸ XM_038496465

RefSeq Acc Id:

XP_038478712 ⟸ XM_038622784

RefSeq Acc Id:	XP_038544383 ⟸ XM_038688455
- UniProtKB:	A0A8C0LPC7 (UniProtKB/TrEMBL)

RefSeq Acc Id:	XP_038414790 ⟸ XM_038558862
- UniProtKB:	A0A8C0LPC7 (UniProtKB/TrEMBL)

Ensembl Acc Id:

ENSCAFP00845013087 ⟸ ENSCAFT00845016828

Ensembl Acc Id:

ENSCAFP00845013175 ⟸ ENSCAFT00845016927

Ensembl Acc Id:

ENSCAFP00845013241 ⟸ ENSCAFT00845017000

Protein Domains

ACT Biopterin-dependent aromatic amino acid hydroxylase

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCAFG00000007310	Ensembl, UniProtKB/TrEMBL
	ENSCAFG00030009375	UniProtKB/TrEMBL
	ENSCAFG00040017369	UniProtKB/TrEMBL
	ENSCAFG00845009553	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCAFT00000011719.5	UniProtKB/TrEMBL
	ENSCAFT00000075549.2	UniProtKB/TrEMBL
	ENSCAFT00000079440.2	UniProtKB/TrEMBL
	ENSCAFT00030017342.1	UniProtKB/TrEMBL
	ENSCAFT00030017445.1	UniProtKB/TrEMBL
	ENSCAFT00040032060.1	UniProtKB/TrEMBL
	ENSCAFT00040032247.1	UniProtKB/TrEMBL
	ENSCAFT00040032349.1	UniProtKB/TrEMBL
	ENSCAFT00845016828	ENTREZGENE
	ENSCAFT00845016828.1	UniProtKB/TrEMBL
	ENSCAFT00845016927.1	UniProtKB/TrEMBL
	ENSCAFT00845017000.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.800.10	UniProtKB/TrEMBL
InterPro	ACT-like_dom_sf	UniProtKB/TrEMBL
	ACT_dom	UniProtKB/TrEMBL
	ArAA_hydroxylase	UniProtKB/TrEMBL
	ArAA_hydroxylase_Fe/CU_BS	UniProtKB/TrEMBL
	ArAA_hydroxylase_sf	UniProtKB/TrEMBL
	Aro-AA_hydroxylase_C_sf	UniProtKB/TrEMBL
	Aromatic-AA_hydroxylase_C	UniProtKB/TrEMBL
	Euk_PheOH_cat	UniProtKB/TrEMBL
	Phe-4-hydroxylase_tetra	UniProtKB/TrEMBL
	Tyrosine_3-monooxygenase-like	UniProtKB/TrEMBL
NCBI Gene	PAH	ENTREZGENE
PANTHER	PHENYLALANINE-4-HYDROXYLASE	UniProtKB/TrEMBL
	PTHR11473	UniProtKB/TrEMBL
Pfam	ACT	UniProtKB/TrEMBL
	Biopterin_H	UniProtKB/TrEMBL
PIRSF	PIRSF000336	UniProtKB/TrEMBL
PRINTS	FYWHYDRXLASE	UniProtKB/TrEMBL
PROSITE	ACT	UniProtKB/TrEMBL
	BH4_AAA_HYDROXYL_1	UniProtKB/TrEMBL
	BH4_AAA_HYDROXYL_2	UniProtKB/TrEMBL
Superfamily-SCOP	SSF55021	UniProtKB/TrEMBL
	SSF56534	UniProtKB/TrEMBL
UniProt	A0A8C0LPC7	ENTREZGENE
	A0A8C0RG82_CANLF	UniProtKB/TrEMBL
	A0A8C0T0N4_CANLF	UniProtKB/TrEMBL
	A0A8C0T0X6_CANLF	UniProtKB/TrEMBL
	A0A8I3N1J8_CANLF	UniProtKB/TrEMBL
	A0A8I3NCS2_CANLF	UniProtKB/TrEMBL
	A0A8I3RVD0_CANLF	UniProtKB/TrEMBL
VGNC ID	VGNC:54218	ENTREZGENE

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB