1. Gene
  2. PAPPA - pappalysin 1 Gene

PAPPA - pappalysin 1 Gene

Homo sapiens

Also known as PAPA; DIPLA1; PAPP-A; PAPPA1; ASBABP2; IGFBP-4ase

Gene ID: 5069 | Gene type: protein coding

About PAPPA

Cytogenetic location: 9q33.1 Genomic coordinates (GRCh38): 9:116,153,791-116,402,321 (from NCBI)

This gene has 3 transcripts (splice variants), 218 orthologues and 39 paralogues. Biased expression in placenta (RPKM 34.5) and kidney (RPKM 1.5).

Summary

This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). Following IGFBP cleavage, Insulin growth factors dissociate from IGFBPs and bind to IGF receptors, resulting in activation of the IGF pathway. The encoded protein plays a role in bone formation, inflammation, wound healing and female fertility. Enhanced expression of this protein is associated with diabetic nephropathy in human patients and this protein may promote tumor invasion and growth in various human cancers. [provided by RefSeq, Aug 2017]

PAPPA Products(1)

mRNA Protein Name
NM_002581.5 NP_002572.2 pappalysin-1 preproprotein

PAPPA Protein Structure

Laminin_G_3

Laminin_G_3: Concanavalin A-like lectin/glucanases superfamily (96 - 268)

Notch

Notch: LNR domain (413 - 441)

Peptidase_M43

Peptidase_M43: Pregnancy-associated plasma protein-A (555 - 659)

Sushi

Sushi: Sushi repeat (SCR repeat) (1285 - 1338)

Sushi

Sushi: Sushi repeat (SCR repeat) (1346 - 1408)

Sushi

Sushi: Sushi repeat (SCR repeat) (1415 - 1471)

Notch

Notch: LNR domain (1553 - 1584)

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  • 1627 a.a.
Protein Preferred Names Protein Names

pappalysin-1

IGF-dependent IGFBP-4 protease

Related Diseases

Diseases Alias
Orofaciodigital Syndrome Viii

Edwards Syndrome

Trisomy 18

Complete Trisomy 18 Syndrome

OFD8

Orofaciodigital Syndrome 8

Trisomy 18 Syndrome

Oral-Facial-Digital Syndrome With Hypoplastic Epiglottis

E3 Trisomy

Oral-Facial-Digital Syndrome Type 8

Orofaciodigital Syndrome Type 8

Ofds Viii

Oral-Facial-Digital Syndrome, Type Viii

Ofd Syndrome 8

Ofds 8

Oral Facial Digital Syndrome 8

Oral Facial Digital Syndrome Type 8

18 Trisomy

Chromosome 18 Trisomy

Trisomy 16-18

Trisomy E

Trisomy E Syndrome

Chromosome 18 Duplication

Oral-Facial-Digital Syndrome, Edwards Type

Orofaciodigital Syndrome, Edwards Type

Chromosome 18, Trisomy

Cleft Lip/Palate With Abnormal Thumbs And Microcephaly

Trisomy 18 Chromosome

Abnormal Autosomes 18

Placenta Disease

Placenta Diseases

Placenta Disorder

Pregnancy Complications

Placenta Disorders

Chromosomal Triplication

Trisomy

Placenta Accreta
Placental Abruption

Abruptio Placentae

Abruptio Placenta

Abortion, Threatened

Threatened Miscarriage

Haemorrhage Specified As Due To Threatened Abortion

Spontaneous Threatened Abortion

Turner Syndrome

Monosomy X

Gonadal Dysgenesis Turner Type

Ullrich-Turner Syndrome

Bonnevie-Ullrich Syndrome

Karyotype 45, X

Genital Dwarfism, Turner Type

Gonadal Dysgenesis

45,X

Turner'S Syndrome

Gonadal Dysgenesis - Turner

Monosomy X Syndrome

Xo Syndrome

Genital Dwarfism

45, X Syndrome

Bonnevie-Ulrich Syndrome

Chromosome X Monosomy X

Schereshevkii Turner Syndrome

Turner Varny Syndrome

Ts

45,X Syndrome

45,X/46,Xx Syndrome

Turners Syndrome

Gonadal Dysgenesis, 45,X

X0 Syndrome

Ectopic Pregnancy

Eccyesis

Pregnancy Ectopic

Pregnancy, Ectopic

Ectopic Pregnancies

Extrauterine Gestation Or Pregnancy

Extrauterine Pregnancy

Ep - [Ectopic Pregnancy]

Ectopic Mole

Aborted Ectopic Pregnancy

Ruptured Ectopic Pregnancy

Placental Insufficiency

Uteroplacental Vascular Insufficiency

Down Syndrome

Trisomy 21

Complete Trisomy 21 Syndrome

Down'S Syndrome

Trisomy 21 Syndrome

Down'S Syndrome - Trisomy 21

Downs Syndrome

G Trisomy

47,Xx,+21

47,Xy,+21

Trisomy G

Down Syndrome, Susceptibility To

Chromosome 21 Trisomy

Trisomy 21 Nos

Abnormal Autosomes 21

Pre-Eclampsia

Preeclampsia

Gestational Hypertension

Hypertension Induced By Pregnancy

Pre-Eclamptic Toxaemia

Pregnancy Associated Hypertension

Proteinuric Hypertension Of Pregnancy

Hypertension, Pregnancy-Induced, Susceptibility To

Preeclampsia/Eclampsia

Pregnancy Toxemia

Toxaemia Of Pregnancy

Gestational Proteinuric Hypertension

Pregnancy-Induced Hypertension

Toxemia Of Pregnancy

Preeclampsia, Susceptibility To

Transient Hypertension Of Pregnancy

Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria

Gestational Hypertension Nos

Mild Proteinuric Hypertension Of Pregnancy

Pih - [Pregnancy-Induced Hypertension]

Pregnancy-Induced Hypertension Nos

Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria

Pe - [Pre-Eclampsia]

Pre-Eclampsia Nos

Pre-Eclamptic Nos

Pregnancy Pre-Eclampsia

Puerperal Pre-Eclampsia

Pre-Eclampsia Toxaemia

Toxaemia In Pregnancy

Pet - [Pre-Eclamptic Toxaemia]

Maternal Toxaemia

Tricuspid Valve Insufficiency

Tricuspid Regurgitation

Tricuspid Valve Regurgitation

Tricuspid Incompetence

Tr - [Tricuspid Regurgitation]

Tricuspid Valve Incompetency

Tricuspid Valve Annular Incompetency

Patau Syndrome

Trisomy 13

Complete Trisomy 13 Syndrome

Trisomy 13 Syndrome

D1 Trisomy

Patau'S Syndrome

Complete Trisomy 13

Chromosome 13, Trisomy 13 Complete

D Trisomy Syndrome

Bartholin-Patau Syndrome

Chromosome 13 Duplication

D1 Trisomy Syndrome

D>1< Trisomy Syndrome

Patau

Chromosome 13 Trisomy

Abnormal Autosomes 13

Chromosomal Duplication Syndrome
Twin-To-Twin Transfusion Syndrome

Twin To Twin Transfusion Syndrome

Twin Twin Transfusion Syndrome

Fetal Blood Loss From Fetal Hemorrhage Into Co-Twin

Fetal Hemorrhage Into Co-Twin

Twin To Twin Transfusion

Twin-To-Twin Blood Transfer

Fetal Transfusion Syndrome

Fetofetal Transfusion Syndrome

Ttts

Feto-Fetal Transfusion Syndrome

Fetofetal Transfusion

Fetus-To-Fetus Placental Transfusion Syndrome

Gestational Diabetes

Gestational Diabetes Mellitus

GDM

Diabetes Mellitus Arising In Pregnancy

Maternal Gestational Diabetes Mellitus

Diabetes Mellitus, Gestational

Diabetes Mellitus, Pregnancy Related

Diabetes, Pregnancy-Induced

Diabetes Gestational

Diabetes, Gestational

Diabetes Of Pregnancy

Gdm - [Gestational Diabetes Mellitus]

Gestational Diabetes Mellitus Nos

Gestational Diabetes Complicating Pregnancy, Childbirth, Or The Puerperium

Eclampsia

Eclampsia In Puerperium

Postpartum Eclampsia

Eclampsia, Postpartum

Puerperal Eclampsia

Intermediate Malignant Teratoma

Malignant Teratoma, Intermediate

Intermediate Immature Teratoma

Chromosomal Disease

Chromosomal Disorders

Congenital Chromosomal Disease

Acute Myocardial Infarction

Cardiac Attack

Heart Attack

Achondroplasia

Achondroplastic Dwarfism

ACH

Osteosclerosis Congenita

Achondroplastic Physique

Chondrodystrophia

Dwarf, Achondroplastic

Achondroplastic Short Stature

Congenital Osteosclerosis

Gallbladder Melanoma

Malignant Melanoma Of Gallbladder

Cystic Lymphangioma

Cystic Hygroma

Cavernous Lymphangioma

Macrocystic Lymphatic Malformation

Cavernous Lymphatic Malformation

Macrocystic Lymphangioma

Lymphangioma, Cystic

Cornelia De Lange Syndrome

De Lange Syndrome

Brachmann De Lange Syndrome

Brachmann-De Lange Syndrome

Cdls

Bdls

Typus Degenerativus Amstelodamensis

Placenta Praevia

Placenta Previa

Haemorrhage From Placenta Previa

Placenta Previa Haemorrhage

Lateral Placenta

Low Implantation Of Placenta Nos Or With Haemorrhage

Total Placenta Previa

Total Placenta Praevia Nos Or With Haemorrhage

Placental Previa Haemorrhage

Pp - [Placenta Previa]

Placenta Previa Marginalis

Placenta Previa Partialis

Partial Placenta Previa

Placenta Previa Centralis

Low Implantation Of Placenta

Low Implantation Or Insertion Of Placenta

Low Insertion Of Placenta

Low Lying Placenta

Marginal Placenta

Marginal Placenta Praevia Nos Or With Haemorrhage

Marginal Placenta Previa

Marginal Placental Haemorrhage

Partial Placenta Praevia Nos Or With Haemorrhage

Chorioangioma

Placental Hemangioma

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Neonatal Anemia

Anemia Neonatal

Anemia, Neonatal

Anaemia Neonatal

Neonatal Anaemia

Severe Pre-Eclampsia

Severe Preeclampsia

Antepartum Severe Pre-Eclampsia

Postpartum Severe Pre-Eclampsia

Severe Pre-Eclampsia, With Delivery

Severe Toxemia

Severe Pre-Eclampsia, Antepartum Condition Or Complication

Severe Pre-Eclampsia, Postpartum Condition Or Complication

Severe Puerperal Pre-Eclampsia

Severe Pre-Eclamptic Toxaemia

Severe Pet - [Pre-Eclamptic Toxaemia]

Mild Pre-Eclampsia

Mild Toxemia

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

Preterm Premature Rupture Of The Membranes

Preterm Premature Rupture Of Membranes

PPROM

Preterm Premature Rupture Of The Membranes, Susceptibility To

Pprom - [Preterm Premature Rupture Of Membranes]

Preterm Rupture Of Membranes

Oligohydramnios

Oligohydramnios - Delivered

Antepartum Oligohydramnios

Delivered Oligohydramnios

Oligohydramnios, Antepartum Condition Or Complication

Deficient Liquor

Oligohydramnios, Unspecified Trimester

Reduced Liquor Volume

Tricuspid Valve Disease

Rheumatic Tricuspid Valve Disease

Disease Of Tricuspid Valve

Rh. Tricuspid Valve Disease

Rheumatic Disease Of Tricuspid Valve

Tricuspid Disease

Tricuspid Valve Disorder

Duodenal Atresia

Duodenal Stenosis

Familial Duodenal Atresia

Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos

Diabetes Mellitus

Diabetes

Gestational Trophoblastic Neoplasm

Hydatidiform Mole

Molar Pregnancy

Gestational Trophoblastic Neoplasia

Gestational Trophoblastic Tumor

Gtn

Gestational Trophoblastic Disease

Gestational Trophoblastic Neoplasms

Hydatidiform Mole, Recurrent, 1

Hydatidiform Mole Benign

Trophoblastic Disease

Trophoblastic Disease Nos

Trophoblastic Disorder

Vesicular Mole Nos

Vesicular Mole

Hydatidiform Mole Nos

Polyhydramnios
Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect

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

Orthologs Information

Species Symbol Source ID
Macaca mulatta PAPPA VGNC VGNC:75756
Mus musculus PAPPA MGD MGI:97479
Felis catus PAPPA VGNC VGNC:68692
Bos taurus PAPPA VGNC VGNC:32572
Canis familiaris PAPPA VGNC VGNC:44256
Rattus norvegicus PAPPA RGD RGD:1307742