PEPD - peptidase D Gene

中文名称：肽酶 D

种属: Homo sapiens

同用名: PROLIDASE

基因 ID: 5184 | 基因类型: protein coding

关于 PEPD

Cytogenetic location: 19q13.11 Genomic coordinates (GRCh38): 19:33,386,950-33,521,791 (from NCBI)

This gene has 35 transcripts (splice variants), 212 orthologues, 7 paralogues and is associated with 3 phenotypes. Broad expression in kidney (RPKM 221.6), small intestine (RPKM 95.0) and 19 other tissues.

功能概要

该基因编码肽酶家族的一个成员。该蛋白质形成同型二聚体，可水解具有 C 末端脯氨酸或羟脯氨酸残基的二肽或三肽。该酶在脯氨酸的再循环中起着重要作用，并且可能限制胶原蛋白生产的速率。该基因的突变导致脯氨酸酶缺乏，其特征是大量含有脯氨酸的二肽和三肽的分泌。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供，2009 年 10 月]

This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes Dipeptides or Tripeptides with C-terminal proline or hydroxyproline residues. The Enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

PEPD 基因产物(3)

mRNA	Protein	Name
NM_000285.4	NP_000276.2	xaa-Pro dipeptidase isoform 1
NM_001166056.2	NP_001159528.1	xaa-Pro dipeptidase isoform 2
NM_001166057.2	NP_001159529.1	xaa-Pro dipeptidase isoform 3

PEPD 蛋白结构

AMP_N

Peptidase_M24

0
100
200
300
400
493 a.a.

蛋白主名

其他名称

xaa-Pro dipeptidase

X-Pro dipeptidase

重组 PEPD 蛋白

目录号	产品名	蛋白编号	纯度
HY-P70992	PEPD Protein, Human	AAH28295.1 (A2-K493)	≥95%

关联疾病

疾病名称

别名

Prolidase Deficiency

Hyperimidodipeptiduria	Imidodipeptidase Deficiency
Peptidase Deficiency	PD
Deficiency Of Prolidase	Imidodipeptiduria
Proline Dipeptidase Deficiency

Bacterial Vaginosis

Vaginosis, Bacterial

Legg-Calve-Perthes Disease

Perthes Disease	LCPD
Coxa Plana	Legg-Perthes Disease
Juvenile Osteochondrosis Of Hip And Pelvis	Pseudocoxalgia
Legg-Calvé-Perthes Disease	Lcp
Calve - Perthes' Disease	Juvenile Osteochond-Hip/Pelvis
Juvenile Osteochondrosis Of Hip And/Or Pelvis	Legg-Calve-Perthes Symptom
Osteochondrosis Of Legg-Calve-Perthes	Perthe'S Disease
Legg-Calve-Perthes Syndrome	Osteochondritis Deformans
Calve-Perthes Disease	Aseptic Necrosis Of The Capital Femoral Epiphysis
Osteochondrosis Of The Capital Femoral Epiphysis	Legg-Calvé-Perthes Syndrome
Avascular Necrosis Of The Capital Femoral Epiphysis

Female Breast Nipple And Areola Cancer

Malignant Neoplasm Of Nipple And Areola Of Female Breast

Malignant Neoplasm Of Nipple Or Areola Of Female Breast

Partington Syndrome

X-Linked Reticulate Pigmentary Disorder	PRTS
Partington X-Linked Mental Retardation Syndrome	Mrxs1
Mrx36	Intellectual Developmental Disorder, X-Linked, Syndromic 1
Partington Disease	Pdr
Partington-Mulley Syndrome	Russell-Silver Syndrome, X-Linked
Mental Retardation, X-Linked, Syndromic 1	Mental Retardation, X-Linked, With Dystonic Movements, Ataxia, And Seizures
Mental Retardation, X-Linked 36	X-Linked Reticulate Pigmentary Disorder With Systemic Manifestations
X-Linked Russell-Silver Syndrome	Intelectual Disability-Dystonic Movements-Ataxia-Seizures Syndrome
Intellectual Disability, X-Linked, Syndromic 1	Intellectual Disability, X-Linked, With Dystonic Movements, Ataxia, And Seizures
Partington X-Linked Intellectual Disability Syndrome	X-Linked Intellectual Deficit-Dystonia-Dysarthria
X-Linked Mental Retardation With Dystonic Movements, Ataxia, And Seizures	Familial Cutaneous Amyloidosis
X-Linked Cutaneous Amyloidosis	Xlpdr
X-Linked Intellectual Disability-Dystonia-Dysarthria Syndrome	Pigmentary Disorder, Reticulate, With Systemic Manifestations

Corpus Callosum, Agenesis Of, With Abnormal Genitalia

Proud Syndrome	Corpus Callosum Agenesis-Abnormal Genitalia Syndrome
Acc With Abnormal Genitalia	Proud-Levine-Carpenter Syndrome
Microcephaly-Corpus Callosum Agenesis-Abnormal Genitalia Syndrome	Corpus Callosum Agenesis With Abnormal Genitalia
New X-Linked Syndrome With Seizures, Acquired Micrencephaly, And Agenesis Of The Corpus Callosum	Proud Levine Carpenter Syndrome
Acc-Abnormal Genitalia Syndrome	Agenesis Of The Corpus Callosum, With Abnormal Genitalia
ACCAG	Micrencephaly-Corpus Callosum Agenesis-Abnormal Genitalia
Congenital Neurologic Anomalies

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Corneal Dystrophy, Posterior Amorphous

Posterior Amorphous Corneal Dystrophy	PACD
Chromosome 12q21.33 Deletion Syndrome	Posterior Amorphous Stromal Dystrophy

Hypermobility Syndrome

Benign Joint Hypermobility

Rocuronium Allergy

Esmeron Allergy

Zemuron Allergy

Creutzfeldt-Jakob Disease

Variant Creutzfeldt-Jakob Disease	CJD
Bovine Spongiform Encephalopathy	Vcjd
Inherited Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease, Familial
Creutzfeldt Jakob Disease	Creutzfeldt-Jacob Disease
Creutzfeldt Jacob Disease	Sporadic Creutzfeldt-Jakob Disease
Encephalopathy, Bovine Spongiform	Creutzfeldt-Jakob Disease, Variant, Resistance To
Creutzfeldt-Jakob Disease, Variant	Creutzfeldt Jacob Syndrome
Jakob-Creutzfeldt Disease	Subacute Spongiform Encephalopathy
Transmissible Virus Dementia	New Variant Of Cjd
Nv-Cjd	Variant Cjd
Variant Creutzfeldt-Jacob Disease	Sporadic Cjd
Inherited Cjd	Acquired Creutzfeldt-Jakob Disease
Variant Mcj	Encephalopathy Bovine Spongiform
Familial Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Syndrome
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease, Sporadic
Acquired Cjd	Scjd - [Sporadic Creutzfeldt-Jakob Disease]
Idiopathic Creutzfeldt-Jakob Disease	Creutzfeld-Jakob Disease Nos
Vcjd - [Variant Creutzfeldt-Jakob Disease]

Hyperprolinemia, Type I

Proline Oxidase Deficiency	Hyperprolinemia Type 1
HYRPRO1	Hpi
Hyperprolinemia Type I	Hyperprolinemia 1
Proline Dehydrogenase Deficiency

Atrial Septal Defect 8

ASD8	Atrial Heart Septal Defect 8
Septal Defect, Atrial, Type 8

Paroxysmal Extreme Pain Disorder

PEPD	Familial Rectal Pain
Pexpd	Submandibular, Ocular, And Rectal Pain With Flushing
Pain, Submandibular, Ocular, And Rectal, With Flushing	Rectal Pain, Familial
Submandibular, Ocular And Rectal Pain With Flushing	Familial Rectal Syndrome
Frp	Pain Disorder, Paroxysmal, Extreme

Fatal Familial Insomnia

Insomnia, Fatal Familial	FFI
Familial Fatal Insomnia	Insomnia Familial Fatal
Insomnia Fatal Familial	Insomnia, Fatal, Familial
Ffi - [Fatal Familial Insomnia]

Brugada Syndrome 1

BRGDA1	Sudden Unexplained Nocturnal Death Syndrome
Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome	Sunds
Brugada Syndrome, Type 1	Brugada Syndrome

Amino Acid Metabolic Disorder

Amino Acid Metabolism, Inborn Errors	Inborn Errors Of Amino Acid Metabolism
Disorder Of Amino Acid Metabolism	Amino Acid Metabolism Disorders

Lissencephaly, X-Linked, 2

X-Linked Lissencephaly With Abnormal Genitalia	Hydranencephaly With Abnormal Genitalia
Xlag	Xlisg
X-Linked Lissencephaly With Ambiguous Genitalia	LISX2
Lissencephaly, X-Linked 2	X-Linked Lissencephaly 2
X-Linked Lissencephaly-Corpus Callosum Agenesis-Genital Anomalies Syndrome	Xlag Syndrome
Lissencephaly, X-Linked, With Ambiguous Genitalia	Xlis2
X-Linked Lissencephaly - Agenesis Of The Corpus Callosum - Genital Anomalies	X-Linked Lissencephaly-Agenesis Of The Corpus Callosum-Genital Anomalies Syndrome
Xlag Syndrome	Lissencephaly X-Linked With Ambiguous Genitalia
Lissencephaly, X-Linked, Type 2	Chromosome Xq26.3 Duplication Syndrome

Connective Tissue Disease

Connective Tissue Diseases	Connective Tissue Disorder
Abnormality Of Connective Tissue	Disorder Of Connective Tissue
Connective Tissue Disorders

Erythromelalgia

Primary Erythromelalgia	Erythermalgia
Primary Erythermalgia	Mitchell Disease
Familial Erythromelalgia

Developmental And Epileptic Encephalopathy 1

Epileptic Encephalopathy, Early Infantile, 1	Infantile Epileptic-Dyskinetic Encephalopathy
DEE1	Eiee1
Issx1	Xmesid
X-Linked Infantile Spasm Syndrome 1	X-Linked Infantile Spasm Syndrome
X-Linked Spasticity-Intellectual Disability-Epilepsy Syndrome	Developmental And Epileptic Encephalopathy, 1
Infantile Epileptic Dyskinetic Encephalopathy	Infantile Spasm Syndrome, X-Linked 1
West Syndrome, X-Linked	Ohtahara Syndrome, X-Linked
Early Infantile Epileptic Encephalopathy 1	Early Infantile Epileptic Encephalopathy-1
Issx	X-Linked Ohtahara Syndrome
X-Linked West Syndrome	Infantile Spasm Syndrome X-Linked 1
Myoclonic Epilepsy X-Linked With Intellectual Disability And Spasticity	Ohtahara Syndrome X-Linked
West Syndrome X-Linked	Encephalopathy, Epileptic, Early Infantile, Type 1

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS10329	PEPD Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	PEPD	VGNC	VGNC:82205
Mus musculus	PEPD	MGD	MGI:97542
Felis catus	PEPD	VGNC	VGNC:68786
Rattus norvegicus	PEPD	RGD	RGD:1594571
Bos taurus	PEPD	VGNC	VGNC:32747
Canis familiaris	PEPD	VGNC	VGNC:44419
Others	PEPD	NCBI

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