XPNPEP3 - X-prolyl aminopeptidase 3 Gene

Also Known as APP3; ICP55; NPHPL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 63929

About XPNPEP3

Cytogenetic location: 22q13.2 Genomic coordinates (GRCh38): 22:40,857,148-40,932,815 (from NCBI)

This gene has 6 transcripts (splice variants), 207 orthologues, 7 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 4.3), kidney (RPKM 2.0) and 25 other tissues.

Summary

The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize to the mitochondria of renal cells, and have a role in ciliary function. Mutations in this gene are associated with nephronophthisis-like nephropathy-1. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene, however, expression of some of these isoforms in vivo is not known.[provided by RefSeq, Mar 2011]

XPNPEP3 Products (2)

mRNA	Protein	Name
NM_001204827.2	NP_001191756.1	xaa-Pro aminopeptidase 3 isoform 2
NM_022098.4	NP_071381.1	xaa-Pro aminopeptidase 3 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables aminopeptidase activity	IMP IMP: Inferred from mutant phenotype	20179356	GOA
enables manganese ion binding	IDA IDA: Inferred from direct assay	28476889	GOA
enables metalloaminopeptidase activity	IDA IDA: Inferred from direct assay	25609706	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14743216	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	28476889	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
acts upstream of or within glomerular filtration	IMP IMP: Inferred from mutant phenotype	20179356	GOA
acts upstream of or within protein processing	IMP IMP: Inferred from mutant phenotype	20179356	GOA
involved in proteolysis	IDA IDA: Inferred from direct assay	28476889	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	25609706	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	20179356	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

XPNPEP3 Protein Structure

AMP_N

Peptidase_M24

0
100
200
300
400
507 a.a.

Protein Preferred Names	Protein Names
xaa-Pro aminopeptidase 3	Intermediate Cleaving Peptidase 55

XPNPEP3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	XPNPEP3	Q9NQH7	TNFRSF1B	Homo sapiens	P20333	TAP	14743216

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant XPNPEP3 Proteins

Art. -Nr.	Produktname	Accession	Reinheit
HY-P71435	XPNPEP3 Protein, Human (His)	Q9NQH7 (M1-S507)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Nephronophthisis-Like Nephropathy 1	NPHPL1 Nephronophthisis-Like Nephropathy, Type 1
Late-Onset Nephronophthisis
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Combined Oxidative Phosphorylation Deficiency 31	Lethal Left Ventricular Non-Compaction-Seizures-Hypotonia-Cataract-Developmental Delay Syndrome COXPD31
Combined Oxidative Phosphorylation Deficiency 37	COXPD37
Nephronophthisis 19	NPHP19 Nephronophthisis, Type 19
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	SMDMDM Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type Spondylometaphyseal Dysplasia Megarbane-Dagher-Melike Type Chondrodysplasia, Megarbane-Dagher-Melki Type Megarbane-Dagher-Melike Type Chondrodysplasia Chondrodysplasia, Megarbane-Dagher-Melike Type Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type
Nephronophthisis 7	NPHP7 Nephronophthisis, Type 7
Nephronophthisis 11	NPHP11 Nephronophthisis, Type 11
Joubert Syndrome 3	JBTS3 Joubert Syndrome With Ocular Defect Joubert Syndrome With Ocular Anomalies Js-O Joubert Syndrome With Retinopathy Joubert Syndrome-3 Joubert Syndrome, Type 3
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Left Ventricular Noncompaction	Noncompaction Cardiomyopathy Left Ventricular Hypertrabeculation Lvnc Spongy Myocardium Isolated Noncompaction Of The Ventricular Myocardium Left Ventricular Myocardial Noncompaction Cardiomyopathy Fetal Myocardium Honeycomb Myocardium Hypertrabeculation Syndrome Left Ventricular Non-Compaction Lvht Non-Compaction Of The Left Ventricular Myocardium Ventricular Noncompaction, Left Non-Compaction Cardiomyopathy
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS15888	XPNPEP3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22054	Xpnpep3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28572	Xpnpep3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	XPNPEP3	VGNC	VGNC:36996
Rattus norvegicus	XPNPEP3	RGD	RGD:1589063
Mus musculus	XPNPEP3	MGD	MGI:2445217
Macaca mulatta	XPNPEP3	VGNC	VGNC:79680
Canis familiaris	XPNPEP3	VGNC	VGNC:48459
Others	XPNPEP3	NCBI