Aprt (adenine phosphoribosyltransferase)

Gene: Aprt (adenine phosphoribosyltransferase) Chinchilla lanigera

Analyze

Symbol:

Aprt

Name:

adenine phosphoribosyltransferase

RGD ID:

8780632

Description:

ENCODES a protein that exhibits adenine binding (ortholog); adenine phosphoribosyltransferase activity (ortholog); AMP binding (ortholog); INVOLVED IN adenine metabolic process (ortholog); AMP salvage (ortholog); cellular response to insulin stimulus (ortholog); PARTICIPATES IN adenine phoshoribosyltransferase deficiency pathway; adenosine monophosphate deaminase deficiency pathway; adenylosuccinate lyase deficiency pathway; ASSOCIATED WITH 16Q24.3 Microdeletion Syndrome (ortholog); adenine phosphoribosyltransferase deficiency (ortholog); autosomal recessive chronic granulomatous disease 4 (ortholog); FOUND IN cytosol (ortholog); nucleoplasm (ortholog)

Type:

protein-coding

RefSeq Status:

RGD Orthologs

Alliance Genes

More Info

more info ...

Latest Assembly:

ChiLan1.0 - Chinchilla ChiLan1.0 Assembly

Position:

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955541	2,687,938 - 2,690,906 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955541	2,687,938 - 2,690,906 (-)	NCBI	ChiLan1.0	ChiLan1.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

16Q24.3 Microdeletion Syndrome (ISO)

adenine phosphoribosyltransferase deficiency (ISO)

autosomal recessive chronic granulomatous disease 4 (ISO)

Breast Neoplasms (ISO)

Experimental Diabetes Mellitus (ISO)

genetic disease (ISO)

hepatocellular carcinoma (ISO)

KBG syndrome (ISO)

mucopolysaccharidosis IV (ISO)

mucopolysaccharidosis IVA (ISO)

primary ciliary dyskinesia 33 (ISO)

renal cell carcinoma (ISO)

urolithiasis (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

adenine metabolic process (ISO)

AMP salvage (ISO)

cellular response to insulin stimulus (ISO)

GMP salvage (ISO)

grooming behavior (ISO)

IMP salvage (ISO)

lactation (ISO)

purine ribonucleoside salvage (ISO)

Cellular Component

cytosol (ISO)

nucleoplasm (ISO)

Molecular Function

adenine binding (ISO)

adenine phosphoribosyltransferase activity (ISO)

AMP binding (ISO)

protein binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

adenine phoshoribosyltransferase deficiency pathway (ISO)

adenosine monophosphate deaminase deficiency pathway (ISO)

adenylosuccinate lyase deficiency pathway (ISO)

AICA-ribosuria pathway (ISO)

azathioprine pharmacodynamics pathway (ISO)

Kelley-Seegmiller syndrome pathway (ISO)

Lesch-Nyhan syndrome pathway (ISO)

mercaptopurine pharmacodynamics pathway (ISO)

molybdenum cofactor deficiency pathway (ISO)

purine metabolic pathway (ISO)

purine nucleoside phosphorylase deficiency pathway (ISO)

tioguanine pharmacodynamics pathway (ISO)

xanthinuria type I pathway (ISO)

xanthinuria pathway (ISO)

xanthinuria type II pathway (ISO)

References

References - curated

#	Reference Title	Reference Citation
1.	Transitive Annotation Pipeline	Automated assignment of GO, PW and RDO ISO annotations across species
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline

Additional References at PubMed

PMID:22301074	PMID:30032202

Genomics

Comparative Map Data

Aprt
(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_004955541	2,687,938 - 2,690,906 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955541	2,687,938 - 2,690,906 (-)	NCBI	ChiLan1.0	ChiLan1.0

APRT
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	88,809,339 - 88,811,928 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	88,809,339 - 88,811,937 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	88,875,747 - 88,878,336 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	87,403,378 - 87,405,843 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	87,403,379 - 87,405,879	NCBI
Celera	16	73,944,514 - 73,946,979 (-)	NCBI		Celera
Cytogenetic Map	16	q24.3	NCBI
HuRef	16	74,573,103 - 74,575,568 (-)	NCBI		HuRef
CHM1_1	16	90,287,144 - 90,289,609 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	94,879,859 - 94,882,448 (-)	NCBI		T2T-CHM13v2.0

Aprt
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	123,301,376 - 123,303,646 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	123,301,374 - 123,303,648 (-)	Ensembl		GRCm39 Ensembl
GRCm38	8	122,574,637 - 122,576,907 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	122,574,635 - 122,576,909 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	125,098,537 - 125,100,807 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	125,460,727 - 125,462,950 (-)	NCBI		MGSCv36	mm8
Celera	8	126,804,235 - 126,806,505 (-)	NCBI		Celera
Cytogenetic Map	8	E1	NCBI
cM Map	8	71.91	NCBI

Aprt
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	19	67,534,737 - 67,537,027 (-)	NCBI		GRCr8
mRatBN7.2	19	50,626,201 - 50,628,491 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	19	50,626,202 - 50,628,431 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	19	57,421,206 - 57,423,174 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	19	58,101,358 - 58,103,326 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	19	60,319,830 - 60,321,798 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	19	55,387,288 - 55,389,256 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	19	55,387,288 - 55,389,256 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	19	66,095,804 - 66,097,772 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	52,854,657 - 52,856,625 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	19	52,859,538 - 52,861,506 (-)	NCBI
Celera	19	49,865,842 - 49,867,810 (-)	NCBI		Celera
Cytogenetic Map	19	q12	NCBI

APRT
(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	18	98,582,498 - 98,585,192 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	104,494,670 - 104,497,177 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	69,522,628 - 69,525,138 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	89,179,020 - 89,181,505 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	89,179,020 - 89,181,504 (-)	Ensembl	panpan1.1		panPan2

APRT
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	5	64,563,154 - 64,565,537 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	5	64,563,192 - 64,565,445 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	5	64,574,619 - 64,577,004 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	5	64,783,377 - 64,785,760 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	5	64,783,416 - 64,785,668 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	5	64,809,556 - 64,811,939 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	5	64,641,062 - 64,643,445 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	5	65,047,101 - 65,049,491 (+)	NCBI		UU_Cfam_GSD_1.0

Aprt
(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_024409349	25,160,104 - 25,162,762 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936641	913,475 - 918,748 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936641	913,674 - 916,312 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

APRT
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	890,831 - 893,276 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	890,272 - 893,278 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	1,090,009 - 1,092,413 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

APRT
(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	5	74,196,858 - 74,199,789 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	5	74,194,013 - 74,199,891 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666047	1,479,268 - 1,482,118 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Aprt
(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_004624746	805,758 - 807,963 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624746	805,742 - 807,963 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Expression

Sequence

Nucleotide Sequences


RefSeq Transcripts	XM_005411021	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AGCD01071422	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	GBBH01000927	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENSCLAT00000003327 ⟹ ENSCLAP00000003262

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0 Ensembl	NW_004955541	2,687,938 - 2,690,906 (-)	Ensembl

RefSeq Acc Id:

XM_005411021 ⟹ XP_005411078

Type:

CODING

Position:

Chinchilla Assembly	Chr	Position (strand)	Source
ChiLan1.0	NW_004955541	2,687,938 - 2,690,906 (-)	NCBI

Sequence:

show sequence

CCTCTAGCCCGCTCTCGCCCCGCCCCACTCGCTCGGCCTAGCCACACGCTGCCATGGCGGAGCC
GGAGCTGCAGCTGGTGTCCCGGCGCATCCGCAGCTTCCCCGACTTCCCCATCCCCGGCGTAATC
TTCAGGGACATCTCGCCCCTCCTGAAGGACCCTGAGTCCTTCCGCACCTGCATCCGCCTGCTGG
CCGGCCACCTGAAGACTGCGCACGGCGGCAAGATCGACTACATCGCAGGCCTGGACTCCAGGGG
CTTCCTGTTTGGCCCCTCGCTGGCCCAGGAACTGGGGCGGGGCTGCGTGCTCATCCGGAAGCGT
GGGAAGCTGCCAGGCCCCACCGTGTCCGCCTCCTATGCGCTGGAGTACGGGAAGGCTGAGCTAG
AGATCCAGAAAGATGCCCTGGAGCCTGGCCAGAAGGTAGTCGTGGTGGACGACTTGCTGGCCAC
TGGTGGAACCATGTGCACAGCCTGTGAGCTGCTGGGCCAGCTGGGAGCTGAGGTGTTGGAATGC
GTGACCCTGGTGGAGCTGACCTCGCTGAAAGGCAGGGAGAAGCTGGGGTCAGTCCCCTTCTTCT
CCCTTCTGCAGTATGAGTGACACTGTCTTCAGCTGGGCAAGAAACCATTCACTTTGTGCCTTCA
GTGACCTGCAAGGGCAACTCGCTGTACCTATGTCATTTCTACCTACTGATCATCTCCTTAGGGG
AGTGGCCAGTGCCCAGTCCCCAACTGCCACAGCCAGACAAAATCAGTAAACAGCTTTGTTACCC
ACACATCGATTAGTGTAGACCCAGACTCCATCCAGCCTTGGCCTCCCTGGTGGCAGCCCCAGCC
AGGACAAGTAGACAGGGCAGTCTTGAGCACCTGCTTTGTGCCTGTCCTTCCTGGATGGCCAGGA
CAGGCTGTGGGAGCCCACTCTGTAGGGGAGCAGACAGGTCTCACAGCCACATGGCCTCCTTGGT
CTCCTTTTGTGGCTTAACAAGCACTTATACTTAGTGGTCTGGCACACCAATTCCTTCTGCAGAT
GCTATGCTTCCACCAATCTGAGGATCCCCTATGATCCATGGTGACACCAAGTCACCTGGGTAGT
CCAGGGCCACCTCTCCATCTCATGAAGTCCTGTCACCTAAACTGAGCACTGCCACCACTGCCAC
AACAGCCCACATGCAGGATGTTATGGTTTATGTCCAGGTGTAACCCCAAAGCCTCATGCAGTTT
TAGATGGAGCTTTGTCAGTAGGGCTGAATCTGGAGCATGTGGTTGATTCATGGTACAATGCTGA
GCTTAAGGGTGTGTAACTGCTGGCCCAGTCTACTGACTGGATTGGCACTGCCCTAATCCTGGTA
GACTGGATACCACACAAGGGACAGAAAGGCTCCTCTCCTTCCCTTGTTGCTCCTGCTGCCATAA
ACGGTTGCCTGTCTGCCATGTGCCACCTGACTGTGGGCTGAAACTTCATGAGCCAAATAAACCT
TTCCTCTTTTAA

hide sequence

Protein Sequences


Protein RefSeqs	XP_005411078	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSCLAP00000003262
	ENSCLAP00000003262.1

RefSeq Acc Id:	XP_005411078 ⟸ XM_005411021
- UniProtKB:	A0A8C2YJH6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MAEPELQLVSRRIRSFPDFPIPGVIFRDISPLLKDPESFRTCIRLLAGHLKTAHGGKIDYIAGL DSRGFLFGPSLAQELGRGCVLIRKRGKLPGPTVSASYALEYGKAELEIQKDALEPGQKVVVVDD LLATGGTMCTACELLGQLGAEVLECVTLVELTSLKGREKLGSVPFFSLLQYE hide sequence

RefSeq Acc Id:

ENSCLAP00000003262 ⟸ ENSCLAT00000003327

Protein Domains

Phosphoribosyltransferase

Additional Information

External Database Links

Database	Acc Id	Source(s)
Ensembl Genes	ENSCLAG00000002341	Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript	ENSCLAT00000003327	ENTREZGENE
	ENSCLAT00000003327.1	UniProtKB/TrEMBL
Gene3D-CATH	3.40.50.2020	UniProtKB/TrEMBL
InterPro	Ade_phspho_trans	UniProtKB/TrEMBL
	PRibTrfase_dom	UniProtKB/TrEMBL
	PRTase-like	UniProtKB/TrEMBL
NCBI Gene	Aprt	ENTREZGENE
PANTHER	ADENINE PHOSPHORIBOSYLTRANSFERASE	UniProtKB/TrEMBL
	ADENINE PHOSPHORIBOSYLTRANSFERASE	UniProtKB/TrEMBL
Pfam	Pribosyltran	UniProtKB/TrEMBL
Superfamily-SCOP	SSF53271	UniProtKB/TrEMBL
UniProt	A0A8C2YJH6	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)

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Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Annotations - SMPDB

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