PEPD - peptidase D Gene

Also Known as PROLIDASE

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5184

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables proline dipeptidase activity	IDA IDA: Inferred from direct assay	17081196	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16713569	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of programmed cell death	IDA IDA: Inferred from direct assay	35165443	GOA
involved in proteolysis	IDA IDA: Inferred from direct assay	17081196	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

PEPD Protein Structure

AMP_N

Peptidase_M24

0
100
200
300
400
493 a.a.

Protein Preferred Names	Protein Names
xaa-Pro dipeptidase	X-Pro dipeptidase

PEPD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PEPD	P12955	TERF1	Homo sapiens	P54274	BiFC	21044950
Intra	PEPD	P12955	TERF1	Homo sapiens	P54274	Pull Down	21044950
Intra	PEPD	P12955	ATXN1	Homo sapiens	P54253	Y2H Pooling	32814053
Intra	PEPD	P12955	ATXN1	Homo sapiens	P54253	Validated Y2H	32814053
Intra	PEPD	P12955	ATXN1	Homo sapiens	P54253	Y2H	16713569
Intra	PEPD	P12955	ATXN1	Homo sapiens	P54253	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant PEPD Proteins

Cat. No.	Product Name	Accession	Purity
HY-P70992	PEPD Protein, Human	AAH28295.1 (A2-K493)	≥ 90%, as determined by reducing SDS-PAGE.

PEPD Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P81833	PEPD Antibody (YA1578)	WB	Human
HY-P81833A	PEPD Antibody (YA1578)(PBS only)	WB	Human

Related Diseases

Diseases	Alias
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

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 (5)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-183739	CQ31		/	Unkown
HY-185207	CQ80	Inducer	/	Unkown
HY-RS10329	PEPD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20322	Pepd Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26830	Pepd Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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