1. Gene
  2. XPNPEP3 - X-prolyl aminopeptidase 3 Gene

XPNPEP3 - X-prolyl aminopeptidase 3 Gene

中文名称:X-脯氨酰氨肽酶 3

种属: Homo sapiens

同用名: APP3; ICP55; NPHPL1

基因 ID: 63929 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质属于 X-氨肽酶原家族,它利用金属辅助因子,从倒数第二个位置带有脯氨酸残基的肽中去除 N 末端氨基酸。这种蛋白质已被证明定位于肾细胞的线粒体,并在纤毛功能中发挥作用。该基因的突变与 nephronophthisis-like nephropathy-1 有关。编码不同亚型的选择性剪接转录变体已被注意到该基因,然而,这些亚型中的一些在体内的表达是未知的。[RefSeq 提供,2011 年 3 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables aminopeptidase activity IMP
IMP: 通过突变表型推断
20179356 GOA
enables manganese ion binding IDA
IDA: 通过直接分析推断
28476889 GOA
enables metalloaminopeptidase activity IDA
IDA: 通过直接分析推断
25609706 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14743216 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
28476889 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within glomerular filtration IMP
IMP: 通过突变表型推断
20179356 GOA
acts upstream of or within protein processing IMP
IMP: 通过突变表型推断
20179356 GOA
involved in proteolysis IDA
IDA: 通过直接分析推断
28476889 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
25609706 GOA
located in mitochondrion IDA
IDA: 通过直接分析推断
20179356 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

XPNPEP3 蛋白结构

AMP_N

AMP_N: Aminopeptidase P, N-terminal domain (68 - 207)

Peptidase_M24

Peptidase_M24: Metallopeptidase family M24 (253 - 481)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 507 a.a.
蛋白主名 其他名称

xaa-Pro aminopeptidase 3

Intermediate Cleaving Peptidase 55

XPNPEP3 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
XPNPEP3 Q9NQH7 TNFRSF1B Homo sapiens P20333
TAP
14743216
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 XPNPEP3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71435 XPNPEP3 Protein, Human (His) Q9NQH7 (M1-S507) ≥95%

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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