1. Gene
  2. PAPLN - papilin, proteoglycan like sulfated glycoprotein Gene

PAPLN - papilin, proteoglycan like sulfated glycoprotein Gene

Homo sapiens

Also known as PPN

Gene ID: 89932 | Gene type: protein coding

About PAPLN

Cytogenetic location: 14q24.2 Genomic coordinates (GRCh38): 14:73,235,805-73,274,623 (from NCBI)

This gene has 12 transcripts (splice variants), 265 orthologues and 25 paralogues. Broad expression in spleen (RPKM 9.2), kidney (RPKM 8.9) and 22 other tissues.

Summary

Predicted to enable metalloendopeptidase activity. Predicted to be involved in extracellular matrix organization. Predicted to be located in basement membrane. Predicted to be active in extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022]

PAPLN Products(3)

mRNA Protein Name
NM_001365906.3 NP_001352835.1 papilin isoform 2 precursor
NM_001365907.2 NP_001352836.1 papilin isoform 3 precursor
NM_173462.4 NP_775733.3 papilin isoform 1 precursor

PAPLN Protein Structure

TSP_1

TSP_1: Thrombospondin type 1 domain (30 - 79)

ADAM_spacer1

ADAM_spacer1: ADAM-TS Spacer 1 (184 - 298)

TSP_1

TSP_1: Thrombospondin type 1 domain (311 - 360)

TSP_1

TSP_1: Thrombospondin type 1 domain (369 - 424)

TSP_1

TSP_1: Thrombospondin type 1 domain (430 - 480)

TSP_1

TSP_1: Thrombospondin type 1 domain (491 - 538)

Kunitz_BPTI

Kunitz_BPTI: Kunitz/Bovine pancreatic trypsin inhibitor domain (753 - 805)

I-set

I-set: Immunoglobulin I-set domain (916 - 992)

I-set

I-set: Immunoglobulin I-set domain (1048 - 1129)

I-set

I-set: Immunoglobulin I-set domain (1135 - 1219)

PLAC

PLAC: PLAC (protease and lacunin) domain (1235 - 1268)

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  • 1278 a.a.
Protein Preferred Names Protein Names

papilin

Related Diseases

Diseases Alias
Radial Nerve Lesion

Lesion Of Radial Nerve

Radial Nerve Lesions

Radial Neuropathy

Radial Nerve Mononeuritis

Weill-Marchesani Syndrome

Gemss Syndrome

Spherophakia-Brachymorphia Syndrome

Marchesani-Weill Syndrome

Wms

Congenital Mesodermal Dystrophy

Mesodermal Dysmorphodystrophy, Congenital

Spherophakia Brachymorphia Syndrome

Mesodermal Dysmorphodystrophy Congenital

Wm Syndrome

Brachydactyly-Spherophakia Syndrome

Brachymorphy With Spherophakia Syndrome

Congenital Mesodermal Dysmorphodystrophy

Marchesani Syndrome

Weill-Marchesani Syndrome, Autosomal Recessive

Weill-Marchesani Syndrome, Autosomal Dominant

Ehlers-Danlos Syndrome, Dermatosparaxis Type

Dermatosparaxis

EDSDERMS

Ehlers-Danlos Syndrome, Type Vii, Autosomal Recessive

Eds Viic

Eds7c

Ehlers-Danlos Syndrome Dermatosparaxis Type

Dermatosparaxis Ehlers-Danlos Syndrome

Dermatosparaxis Eds

Ehlers-Danlos Syndrome Type 7c

Deds

Human Dermatosparaxis Eds Viic

Ehlers-Danlos Syndrome 7c

Ehlers-Danlos Syndrome, Type Viic

Radial Neuropathy
Peters-Plus Syndrome

Krause-Kivlin Syndrome

Peters Plus Syndrome

Peters Anomaly

Irido-Corneo-Trabecular Dysgenesis

PTRPLS

Peters Anomaly With Short-Limb Dwarfism

Peters Anomaly-Short Limb Dwarfism Syndrome

Peters Anomaly With Short Limb Dwarfism

Peters Congenital Glaucoma

Krause-Van Schooneveld-Kivlin Syndrome

Peters' Plus Syndrome

Peters'-Plus Syndrome

Anomaly Peters

Isolated Ectopia Lentis

Familial Ectopia Lentis

Ectopia Lentis

Ectopia Lentis Syndrome

Lens Subluxation

Iel

Congenital Ectopia Lentis

Subluxation Of Lens

Ectopia Lentis, Isolated

Ectopia Lentis Isolated

Acromicric Dysplasia

ACMICD

Acromicric Skeletal Dysplasia

Dysplasia, Acromicric

Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd

Winchester Syndrome

WNCHRS

Winchester Disease

Winchester-Grossman Syndrome

Intellectual Developmental Disorder, X-Linked 109

Fraxe Syndrome

Fragile Xe Syndrome

Mental Retardation, X-Linked, Fraxe Type

XLID109

Mrx109

Mental Retardation, X-Linked, Associated With Fragile Site Fraxe

Fraxe Mental Retardation Syndrome

X-Linked Intellectual Developmental Disorder 109

Fraxe Intellectual Disability

Fraxe

Mental Retardation, X-Linked 109

Fragile Site On Chromosome Xq28

Fragile Site, Folic Acid Type

X-Linked Intellectual Disability Associated With Fragile Site Fraxe

Fraxe Intellectual Deficit

Intellectual Disability Associated With Fragile Site Fraxe

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

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
Canis familiaris PAPLN VGNC VGNC:49735
Mus musculus PAPLN MGD MGI:2386139
Rattus norvegicus PAPLN RGD RGD:1311176
Felis catus PAPLN VGNC VGNC:64034
Macaca mulatta PAPLN VGNC VGNC:75647
Bos taurus PAPLN VGNC VGNC:32571