PCSK1N - proprotein convertase subtilisin/kexin type 1 inhibitor Gene

Also Known as PEN; SAAS; SCG8; BigLEN; SgVIII; PROSAAS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 27344

About PCSK1N

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:48,831,096-48,835,610 (from NCBI)

This gene has 2 transcripts (splice variants) and 78 orthologues. Biased expression in kidney (RPKM 101.8), brain (RPKM 31.9) and 2 other tissues.

Summary

The protein encoded by this gene functions as an inhibitor of prohormone convertase 1, which regulates the proteolytic cleavage of neuroendocrine peptide precursors. The proprotein is further processed into multiple short peptides. A polymorphism within this gene may be associated with obesity. [provided by RefSeq, Aug 2013]

PCSK1N Products (1)

mRNA	Protein	Name
NM_013271.5	NP_037403.1	proSAAS preproprotein

PCSK1N Protein Structure

ProSAAS

0
100
200
260 a.a.

Protein Preferred Names	Protein Names
proSAAS	granin-like neuroendocrine peptide

Related Diseases

Diseases	Alias
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Guam Disease Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Of Guam Als-Pdc Lytico-Bodig Disease Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1, Susceptibility To Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex, Susceptibility To Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Of Guam Syndrome Parkinsonism-Dementia-Als Complex Pdals Amyotrophic Lateral Sclerosis, Parkinsonism/Dementia Complex Of Guam Parkinson-Dementia Complex Of Guam G-Pdc Guam Parkinsonism-Dementia Complex ALS-PDC1 Als/Pdc Of Guam Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic/Parkinsonism/Dementia Complex 1 Amyotrophic Lateral Sclerosis, Guam Form Parkinsonian Disorders
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Parkinsonism	Parkinsonism-Plus Idiopathic Parkinsonism Primary Parkinsonism Paralysis Agitans Syndrome Parkinsonian Syndrome Trembling Paralysis Paralysis Agitans Shaking Palsy Shaking Paralysis
Dementia	Dementias Presenile Dementia Alzheimer Type Dementia Alzheimer Sclerosis Alzheimer Disease Dementia Alzheimer Dementia Primary Degenerative Alzheimer Type Dementia End Stage Alzheimer'S Dementia Alzheimer'S Type Atypical Dementia Alzheimer Type Presenile Dementia Early Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 2 Dementia In Alzheimer Disease With Early Onset Early Onset Alzheimer Type Dementia, Uncomplicated Primary Degenerative Alzheimer Type Dementia, Early Onset Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated Alzheimer Disease Dementia With Early Onset Presenile Sclerosis Presenile Brain Sclerosis Presenile Alzheimer Brain Sclerosis Late Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 1 Dementia In Alzheimer Disease With Late Onset Primary Degenerative Alzheimer Type Dementia, Late Onset Sdat - [Senile Dementia, Alzheimer Type] Alzheimer Disease Dementia With Late Onset Late Onset Alzheimer Brain Sclerosis Senile Alzheimer Brain Disease Senile Alzheimer Brain Sclerosis Senile Primary Degenerative Alzheimer Type Dementia Senile Dementia Of The Alzheimer Type Arteriosclerotic Dementia Strategic-Infarct Dementia Post Stroke Dementia Vascular Cognitive Impairment Vascular Dementia Dementia Of The Lewy Body Type Dementia With Lewy Bodies Sdlt - [Senile Dementia Of The Lewy Body Type] Senile Dementia Of The Lewy Body Type Alcohol-Related Dementia Alcoholic Dementia Nos Alcohol-Induced Dementia Alcoholic Brain Syndrome Chronic Alcoholic Brain Syndrome Alcohol Dementia Late Onset Alcoholic Psychosis Residual And Late-Onset Alcohol-Induced Psychotic Disorder Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder Late-Onset Psychoactive Substance-Induced Psychotic Disorder Inhalant Dementia Volatile Solvents Dementia Dementia In Paralysis Agitans Pdd - [Parkinson Disease Dementia] Dementia Syndrome Of Parkinson Disease Dementia In Parkinson Disease Parkinson Related Dementia Dementia In Huntington Chorea Hiv - [Human Immunodeficiency Virus] Dementia Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex Aids Related Dementia Dementia Due To Niacin Deficiency
Bardet-Biedl Syndrome 1	BBS1 Bardet-Biedl Syndrome 1, Modifier Of Bardet-Biedl Syndrome BBS Bardet-Biedl Syndrome, Type 1 Laurence-Moon-Bardet-Biedl Syndrome
Pheochromocytoma	Pheochromocytoma, Susceptibility To Phaeochromocytoma Adrenal Gland Chromaffin Paraganglioma Adrenal Gland Chromaffinoma Adrenal Gland Paraganglioma Adrenal Gland Pheochromocytoma Chromaffin Paraganglioma Of The Adrenal Gland Intraadrenal Paraganglioma PCC Chromaffin Cell Tumor Medullary Chromaffinoma Medullary Paraganglioma Pheochromoblastoma Pheochromocytomas Chromaffin Cell Neoplasm Pheochromocytoma, Malignant
Pick Disease Of Brain	Pick Disease Pick'S Disease Pick Disease Of The Brain Lobar Atrophy Of Brain Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions Behavioral Variant Of Frontotemporal Dementia Dementia In Pick'S Disease Lobar Atrophy Of The Brain Bvftd Bv-Ftd PIDB Picks Disease
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers

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 (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10171	PCSK1N Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	PCSK1N	VGNC	VGNC:32647
Rattus norvegicus	PCSK1N	RGD	RGD:3617
Canis familiaris	PCSK1N	VGNC	VGNC:44321
Mus musculus	PCSK1N	MGD	MGI:1353431
Felis catus	PCSK1N	VGNC	VGNC:64073
Macaca mulatta	PCSK1N	VGNC	VGNC:75639
Others	PCSK1N	NCBI