Prolidaasivaje, Prolidaasigeeni , Xaa-Pro dipeptidaasi kuuluu metallopeptidaasien perheeseen ( Mn++)

 

• GeneCards Symbol: PEPD ²
• Peptidase D ^{2 3 4 5}
• Xaa-Pro Dipeptidase ^{2 3 4}
• Imidodipeptidase ^{2 3 4}
• Proline Dipeptidase ^{3 4}
• X-Pro Dipeptidase ^{3 4}

• Prolidase ^{2 4}
• Testicular Tissue Protein Li 138 ³
• Aminoacyl-L-Proline Hydrolase ³
• EC 3.4.13.9 ⁴
• PROLIDASE ³
• PRD ⁴

 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 (Peptidase D) is a Protein Coding gene. Diseases associated with PEPD include Prolidase Deficiency and Bacterial Vaginosis. Gene Ontology (GO) annotations related to this gene include peptidase activity and aminopeptidase activity. An important paralog of this gene is XPNPEP3.

Dipeptidase that catalyzes the hydrolysis of dipeptides with a prolyl (Xaa-Pro) or hydroxyprolyl residue in the C-terminal position (PubMed:17081196, 35165443). The preferred dipeptide substrate is Gly-Pro, but other Xaa-Pro dipeptides, such as Ala-Pro, Met-Pro, Phe-Pro, Val-Pro and Leu-Pro, can be cleaved (PubMed:17081196). Plays an important role in collagen metabolism because the high level of iminoacids in collagen (PubMed:2925654). ( PEPD_HUMAN,P12955 ) 

Cytogenetic band:

• 19q13.11 by HGNC
• 19q13.11 by NCBI Gene
• 19q13.11 by Ensembl

PEPD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or NCBI Gene and/or Ensembl if different)

Genomic Neighborhood

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Exon Structure

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Gene Densities

 

Protein attributes for PEPD Gene

Size:493 amino acids

Molecular mass:54548 Da

Cofactor: Name=Mn(2+); Xref=ChEBI:CHEBI:29035;

 

Molecular function for PEPD Gene according to UniProtKB/Swiss-Prot

Function:

• Dipeptidase that catalyzes the hydrolysis of dipeptides with a prolyl (Xaa-Pro) or hydroxyprolyl residue in the C-terminal position (PubMed:17081196, 35165443).
  The preferred dipeptide substrate is Gly-Pro, but other Xaa-Pro dipeptides, such as Ala-Pro, Met-Pro, Phe-Pro, Val-Pro and Leu-Pro, can be cleaved (PubMed:17081196).
  Plays an important role in collagen metabolism because the high level of iminoacids in collagen (PubMed:2925654). PEPD_HUMAN,P12955

CatalyticActivity:

• Reaction=H2O + Xaa-L-Pro dipeptide = an L-alpha-amino acid + L-proline; Xref=RHEA:76407, CHEBI:15377, CHEBI:59869, CHEBI:60039, CHEBI:195196; EC=3.4.13.9; Evidence={ECO:0000269 PubMed:17081196, 35165443}. PEPD_HUMAN,P12955

EnzymeRegulation:

• Specifically inhibited by the pseudodipeptide CQ31 (PubMed:35165443).
  Inhibition by CQ31 indirectly activates the CARD8 inflammasome: dipeptide accumulation following PEPD inactivation weaky inhibit dipeptidyl peptidases DDP8 and DPP9, relieving DPP8- and/or DPP9-mediated inhibition of CARD8 (PubMed:35165443). PEPD_HUMAN,P12955

 https://pubmed.ncbi.nlm.nih.gov/35165443/

muistakin dipeptidaasesta  ja inflammasomien osuudesta. 

Gene Families for PEPD Gene

HGNC:

• M24 metallopeptidase family

IUPHAR :

• M24: Methionyl aminopeptidase

Human Protein Atlas (HPA):

• Disease related genes
• Enzymes
• Human disease related genes
• Metabolic proteins
• Plasma proteins
• Potential drug targets
• Predicted intracellular proteins

Protein Domains for PEPD Gene

InterPro:

• Creatinase/aminopeptidase-like
• Pept_M24
• Aminopep_P_N
• Creatin/AminoP/Spt16_NTD
• Peptidase_M24B_aminopep-P_CS

Blocks:

• Aminopeptidase P, N-terminal

 

Disorder	Aliases	PubMed IDs
Bacterial Vaginosis 64	Vaginosis, Bacterial	4 publication(s)
Female Breast Nipple And Areola Cancer 64	Malignant Neoplasm Of Nipple And Areola Of Female Breast Malignant Neoplasm Of Nipple Or Areola Of Female Breast
Partington Syndrome 64	X-Linked Reticulate Pigmentary Disorder PRTS Partington X-Linked Mental Retardation Syndrome See all 22 »
Episodic Pain Syndrome, Familial, 2 64	FEPS2 Familial Episodic Pain Syndrome 2
Brittle Bone Disorder 64	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium See all 20 »

 

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SLC45A2	Solute Carrier Family 45 Member 2	Protein Coding	5.24	DISEASES inferred 14
2	PEPD	Peptidase D	Protein Coding	5.18	DISEASES inferred 14
3	APOE	Apolipoprotein E	Protein Coding	3.2	DISEASES inferred 14
4	ACE	Angiotensin I Converting Enzyme	Protein Coding	2.95	DISEASES inferred 14

 

 https://www.genecards.org/cgi-bin/carddisp.pl?gene=ACE

Molecular function for PEPD Gene according to GENATLAS

Biochemistry:

• peptidase D PEPD

 

 https://www.malacards.org/card/prolidase_deficiency

Diseases related to Prolidase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)

#	Related Disease	Score	Top Affiliating Genes
1	paroxysmal extreme pain disorder	10.6
2	splenomegaly	10.5
3	systemic lupus erythematosus	10.3
4	lupus erythematosus	10.3
5	skin disease	10.3
6	connective tissue disease	10.2
7	erythrokeratoderma ''en cocardes''	10.2
8	systemic lupus erythematosus 1	10.2
9	congenital muscular dystrophy-dystroglycanopathy type a5	10.1	ZNF181 SCGB2B2
10	inflammatory bowel disease 1	10.0