P4ha3 (prolyl 4-hydroxylase subunit alpha 3)

Gene: P4ha3 (prolyl 4-hydroxylase subunit alpha 3) Ictidomys tridecemlineatus

Analyze

Symbol:

P4ha3

Name:

prolyl 4-hydroxylase subunit alpha 3

RGD ID:

12494438

Description:

ENCODES a protein that exhibits procollagen-proline 4-dioxygenase activity (ortholog); PARTICIPATES IN AGAT deficiency pathway; arginine and proline metabolic pathway; guanidinoacetate methyltransferase deficiency pathway; ASSOCIATED WITH 3-methylglutaconic aciduria type 7b (ortholog); genetic disease (ortholog); intellectual disability (ortholog); FOUND IN endoplasmic reticulum (inferred); endoplasmic reticulum lumen (inferred)

Type:

protein-coding

RefSeq Status:

MODEL

Previously known as:

prolyl 4-hydroxylase subunit alpha-3

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

SpeTri2.0 - Squirrel SpeTri2.0 Assembly

Position:

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024404947	61,714,387 - 61,747,254 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936498	3,313,586 - 3,346,888 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936498	3,313,572 - 3,346,888 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

3-methylglutaconic aciduria type 7b (ISO)

genetic disease (ISO)

intellectual disability (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

endoplasmic reticulum (IEA)

endoplasmic reticulum lumen (IEA)

Molecular Function

dioxygenase activity (IEA)

iron ion binding (IEA)

L-ascorbic acid binding (IEA)

metal ion binding (IEA)

procollagen-proline 4-dioxygenase activity (IEA,ISO)

protein binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

AGAT deficiency pathway (ISO)

arginine and proline metabolic pathway (ISO)

guanidinoacetate methyltransferase deficiency pathway (ISO)

gyrate atrophy pathway (ISO)

hyperprolinemia type I pathway (ISO)

hyperprolinemia type II pathway (ISO)

ornithine translocase deficiency pathway (ISO)

prolidase deficiency pathway (ISO)

References

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

P4ha3
(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_024404947	61,714,387 - 61,747,254 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936498	3,313,586 - 3,346,888 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936498	3,313,572 - 3,346,888 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

P4HA3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	74,250,146 - 74,311,640 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	74,235,801 - 74,311,640 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	73,977,702 - 74,022,685 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	73,655,350 - 73,700,347 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	73,655,350 - 73,700,347	NCBI
Celera	11	71,284,495 - 71,329,490 (-)	NCBI		Celera
Cytogenetic Map	11	q13.4	NCBI
HuRef	11	70,272,978 - 70,317,974 (-)	NCBI		HuRef
CHM1_1	11	73,861,931 - 73,906,925 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	11	74,189,267 - 74,240,983 (-)	NCBI		T2T-CHM13v2.0

P4ha3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	99,934,637 - 99,968,908 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	99,934,727 - 99,968,906 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	100,285,489 - 100,319,701 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	100,285,520 - 100,319,699 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	107,434,030 - 107,468,209 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	100,159,603 - 100,193,063 (+)	NCBI		MGSCv36	mm8
Celera	7	100,621,531 - 100,685,814 (+)	NCBI		Celera
Cytogenetic Map	7	E2	NCBI
cM Map	7	54.34	NCBI

P4ha3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	164,040,852 - 164,075,922 (+)	NCBI		GRCr8
mRatBN7.2	1	154,628,723 - 154,663,779 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	154,628,736 - 154,663,775 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	162,623,166 - 162,657,518 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	169,803,258 - 169,837,620 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	162,676,876 - 162,711,561 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	165,295,835 - 165,330,922 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	165,295,847 - 165,330,322 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	171,496,702 - 171,531,629 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	157,663,338 - 157,720,713 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	157,742,130 - 157,799,506 (+)	NCBI
Celera	1	152,717,521 - 152,746,770 (+)	NCBI		Celera
Cytogenetic Map	1	q32	NCBI

P4ha3
(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_004955414	17,344,509 - 17,376,564 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955414	17,344,512 - 17,376,564 (+)	NCBI	ChiLan1.0	ChiLan1.0

P4HA3
(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	9	75,201,925 - 75,253,944 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	76,244,971 - 76,297,988 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	69,333,199 - 69,385,012 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	72,646,410 - 72,691,294 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	72,647,004 - 72,691,294 (-)	Ensembl	panpan1.1		panPan2

P4HA3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	21	23,991,474 - 24,033,086 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	21	23,991,469 - 24,032,642 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	21	23,755,267 - 23,797,999 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	21	24,192,868 - 24,235,448 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	21	24,194,254 - 24,235,437 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	21	23,990,072 - 24,032,765 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	21	24,187,263 - 24,230,298 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	21	24,105,136 - 24,147,780 (+)	NCBI		UU_Cfam_GSD_1.0

P4HA3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	8,627,413 - 8,667,772 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	8,627,365 - 8,681,804 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	9,465,578 - 9,506,339 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

P4HA3
(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	1	65,528,378 - 65,566,430 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	65,528,357 - 65,566,358 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	60,294,545 - 60,332,589 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

P4ha3
(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_004624817	2,780,209 - 2,815,240 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624817	2,780,201 - 2,826,046 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005323190	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	JAESOR010000006	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSSTOT00000007909 ⟹ ENSSTOP00000007077

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
SpeTri2.0 Ensembl	NW_004936498	3,313,586 - 3,346,888 (-)	Ensembl

RefSeq Acc Id:

XM_005323190 ⟹ XP_005323247

Type:

CODING

Position:

Squirrel Assembly	Chr	Position (strand)	Source
HiC_Itri_2	NW_024404947	61,714,387 - 61,747,254 (-)	NCBI
SpeTri2.0	NW_004936498	3,313,572 - 3,346,888 (-)	NCBI

Sequence:

show sequence

GGCAGGAGCGCGGGGCCGACGGGCGGGACGTTGAGGGGACGGGCAAGCGCCGGCGATGGGCCCC
GCCGCGAGGCTGGCGGCGCTGCTGGCGGGGCCGGCGCCCCCGGCCCAGGGCCCGGCGGGGGCGG
CGGCGCGAGAGGACACGTTCTCGGCGCTGACCTGCGTGGCGCGCGCCCTGGCTCCCGAGCGCCG
GCTGCTGGGGCTGCTGCGGCGCTACCTGCGCGGGGAGGAGGCGCGACTGAGGGATCTGACCAGG
TTCTATGACAAGGTGCTTTCACTCCATGAGGACCCAGCAGCCCCTGTGGCTAACCCTCTGCTTG
CCTTTACTCTCATCAAACGGCTGCAGTCTGACTGGAGGAATGTGGTGCATAGCCTGGAGGCCAG
TGAGAACATCCAAGCTCTTAAGGATGGTTATGAGAAGGTGGAACAAGACCTCCCAGCCTTTGAG
GACCTTGAGGGAGCAGCACGGGCCTTGATGCGGCTGCAGGATGTGTACATGCTCAATGTGAAGG
GCCTGGCCCGAGGTGTCTTTCAGAGAGTCACTGGCTCTGACGTCACTGACTTGTACAGTCCCAG
ACGGATCTTCTCCCTCACAGCAGATGATTGCTTCCAAGTAGGCAAGGTGGCCTATGACATGGGG
GATTACTACCATGCCATTCCATGGCTGGAGGAGGCTGTCAGTCTCTTCCGAGGCTCTTATGGGG
AGTGGAAGACAGAGGATGAAGCAAGCCTAGAAGATGCCTTGGATCACTTGGCCTTTGCCTGTTT
CCAGGCAGGAAATGTTTCGTGTGCCCTGAGCCTCTCCCGAGAGTTTCTTCTCTACAGCCCAGAA
AATAAGAGGATGGCCAGGAATGTGTTGAAATATGAAAGGCTCTTGGCAGAGAGCCCCCACCAGG
CTGTAGCTGAGGCTGTCATCCAGAGACCCAGAGTGCCCCACCTGCGGACTAGAGACACATATGA
GGGGTTATGTCAGACCCTGGGCTCCCAGCCCATTCACTACCAGATCCCTAGCCTCTACTGCTCC
TATGAGACCAATTCCAGCCCCTACCTGCTTCTGCAGCCCATCCGGAAGGAGATCATTCACCTAG
AGCCCTATGTTGCTCTCTATCATGATTTTGTCAGTGACTCAGAGGCTCAGAAAATTCGCGAGCT
TGCAGAACCATGGCTCCAGAGATCAGTGGTGGCATCAGGGGAAGAGCAGTTGCAAGTGGAGTAC
CGTATCAGCAAAAGTGCCTGGCTAAAGGACACTGTTGACCCAATGCTGGTGACCCTTGACCACC
GCATCGCAGCCCTCACAGGCCTTGATGTCCAGCCTCCCTACGCAGAGTATCTCCAGGTGGTGAA
CTATGGCATTGGAGGGCACTATGAGCCTCACTTTGACCATGCTACGTCGCCAAGCAGCCCCCTA
TACAGAATGAAGTCTGGAAACCGAGTTGCAACATTTATGATCTATCTGAGCTCAGTGGAAGCTG
GAGGAGCCACAGCCTTCATCTACGCCAACTTCAGCGTGCCTGTGGTTAAGAATGCAGCACTGTT
CTGGTGGAACCTGCATAGGAGTGGTGAGGGGGACGGTGACACACTTCATGCTGGCTGTCCTGTC
CTGGTGGGAGATAAGTGGGTGGCCAACAAGTGGATACACGAGTATGGACAGGAATTCCGCAGAC
CCTGCGGCTCCAACCCGGAAGACTGAAGATTCGTTGTTAGAGCAGCTGTGGAGAAGGAGAACCG
AGGGGAGAGCAGCCTCCTGAAAGAGGCTTGTCAGCATTTGCCCACTCCTTGAAAATGGAGCCTT
CACCGGGGACCCCTGAGAAGTTAAATTTATTTCTGGTCCAGCCACAAGAGTCAGAGGAGAATGG
ACAGTACAAATAAGGACATGGAGGCCTGGGAGAGAAGCTTCTAGAACTTACTCTGTGTTAGAAA
TAGAACTTACCAACAGTCTCTAGGGTTTGAGCTTTCGGAGTTTTTGCCATTCTGACCACAGGGA
CCCAGAAGTGGCAGTGAGGACGCCTGCAGGAGCAGTCAGTCCGACCCCTTTGTCCTTCTCCCCA
CTGACTTCTGCTGTAGCCTGAGCAGGGAGTGTGTCTGACTCGGATGTGCACCCCATGCAAGAAG
TACATCATTTGGTGATTTTTTTTTTTTAAA

hide sequence

Protein Sequences


Protein RefSeqs	XP_005323247	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSSTOP00000007077.3
GenBank Protein	KAG3286136	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

XP_005323247 ⟸ XM_005323190

- UniProtKB:

I3MAN1 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MGPAARLAALLAGPAPPAQGPAGAAAREDTFSALTCVARALAPERRLLGLLRRYLRGEEARLRD
LTRFYDKVLSLHEDPAAPVANPLLAFTLIKRLQSDWRNVVHSLEASENIQALKDGYEKVEQDLP
AFEDLEGAARALMRLQDVYMLNVKGLARGVFQRVTGSDVTDLYSPRRIFSLTADDCFQVGKVAY
DMGDYYHAIPWLEEAVSLFRGSYGEWKTEDEASLEDALDHLAFACFQAGNVSCALSLSREFLLY
SPENKRMARNVLKYERLLAESPHQAVAEAVIQRPRVPHLRTRDTYEGLCQTLGSQPIHYQIPSL
YCSYETNSSPYLLLQPIRKEIIHLEPYVALYHDFVSDSEAQKIRELAEPWLQRSVVASGEEQLQ
VEYRISKSAWLKDTVDPMLVTLDHRIAALTGLDVQPPYAEYLQVVNYGIGGHYEPHFDHATSPS
SPLYRMKSGNRVATFMIYLSSVEAGGATAFIYANFSVPVVKNAALFWWNLHRSGEGDGDTLHAG
CPVLVGDKWVANKWIHEYGQEFRRPCGSNPED

hide sequence

RefSeq Acc Id:

ENSSTOP00000007077 ⟸ ENSSTOT00000007909

Protein Domains

Fe2OG dioxygenase

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSSTOG00000007908	Ensembl, UniProtKB/TrEMBL
Ensembl Transcript	ENSSTOT00000007909.3	UniProtKB/TrEMBL
Gene3D-CATH	1.25.40.10	UniProtKB/TrEMBL
	6.10.140.1460	UniProtKB/TrEMBL
	q2cbj1_9rhob like domain	UniProtKB/TrEMBL
InterPro	Oxoglu/Fe-dep_dioxygenase	UniProtKB/TrEMBL
	P4HA-like	UniProtKB/TrEMBL
	Pro_4_hyd_alph	UniProtKB/TrEMBL
	Pro_4_hyd_alph_FE2OG_OXY	UniProtKB/TrEMBL
	Pro_4_hyd_alph_N	UniProtKB/TrEMBL
	TPR-like_helical_dom_sf	UniProtKB/TrEMBL
NCBI Gene	P4ha3	ENTREZGENE
PANTHER	PROLYL 4-HYDROXYLASE SUBUNIT ALPHA-3	UniProtKB/TrEMBL
	PTHR10869	UniProtKB/TrEMBL
Pfam	2OG-FeII_Oxy_3	UniProtKB/TrEMBL
	P4Ha_N	UniProtKB/TrEMBL
PROSITE	FE2OG_OXY	UniProtKB/TrEMBL
SMART	P4Hc	UniProtKB/TrEMBL
Superfamily-SCOP	SSF48452	UniProtKB/TrEMBL
UniProt	I3MAN1	ENTREZGENE, UniProtKB/TrEMBL

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 Annotations - SMPDB

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Imported Disease Annotations - ClinVar

Imported Annotations - SMPDB