PACS1 - phosphofurin acidic cluster sorting protein 1 Gene

Homo sapiens

Also known as SHMS; MRD17

Gene ID: 55690 | Gene type: protein coding

About PACS1

Cytogenetic location: 11q13.1-q13.2 Genomic coordinates (GRCh38): 11:66,070,272-66,244,744 (from NCBI)

This gene has 16 transcripts (splice variants), 225 orthologues, 1 paralogue and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 20.8), lymph node (RPKM 16.2) and 25 other tissues.

Summary

This gene encodes a protein with a putative role in the localization of trans-Golgi network (TGN) membrane proteins. Mouse and rat homologs have been identified and studies of the homologous rat protein indicate a role in directing TGN localization of Furin by binding to the protease's phosphorylated cytosolic domain. In addition, the human protein plays a role in HIV-1 Nef-mediated downregulation of cell surface MHC-I molecules to the TGN, thereby enabling HIV-1 to escape immune surveillance. [provided by RefSeq, Jul 2008]

PACS1 Products(1)

mRNA	Protein	Name
NM_018026.4	NP_060496.2	phosphofurin acidic cluster sorting protein 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	10707087	GOA
enables transmembrane transporter binding	IPI IPI: Inferred from physical interaction	15692563	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in protein localization to plasma membrane	IMP IMP: Inferred from mutant phenotype	15692563	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

PACS1 Protein Structure

Pacs-1

0
200
400
600
800
963 a.a.

Protein Preferred Names

Protein Names

phosphofurin acidic cluster sorting protein 1

PACS-1

Related Diseases

Diseases

Alias

Schuurs-Hoeijmakers Syndrome

SHMS	Pacs1-Related Syndrome
Mrd17	Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Intellectual Developmental Disorder, Autosomal Dominant 17	Autosomal Dominant Intellectual Disability-17
Autosomal Dominant Mental Retardation 17	Pacs1 Syndrome
Mental Retardation, Autosomal Dominant 17

Orthostatic Intolerance

Mitral Valve Prolapse	Neurocirculatory Asthenia
Mitral Valve Prolapse Syndrome	Irritable Heart
Systolic Click-Murmur Syndrome	Soldiers Heart
Cardiovascular Malfunction Arising From Mental Factors	Cardiovascular Neurosis
Da Costa'S Syndrome	Krishaber'S Disease
Barlow'S Syndrome	Floppy Mitral Valve
Mitral Leaflet Syndrome	Myxomatous Mitral Valve Prolapse
Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency	Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency
Orthostatic Intolerance Due To Net Deficiency	Pots Due To Net Deficiency
OI	Intolerance, Orthostatic
Mitral Valve Prolapse, Familial, X-Linked	Ballooning Mitral Valve
Barlow Syndrome	Flail Mitral Leaflet
Myxomatous Mitral Valve	Mitral Valve Prolapse-Click Syndrome
Prolapsing Mitral Valve Leaflet Syndrome	Billowing Mitral Valve Leaflet
Posterior Mitral Leaflet Deformity	Ballooning Posterior Leaflet Syndrome
Blue Valve Syndrome	Floppy Mitral Valve Syndrome
Mitral Valvular Prolapse	Systolic Click Syndrome

Autosomal Dominant Intellectual Developmental Disorder

Autosomal Dominant Mental Retardation	Autosomal Dominant Non-Syndromic Mental Retardation
Autosomal Dominant Non-Syndromic Intellectual Disability	Mental Retardation, Autosomal Dominant

Neurooculocardiogenitourinary Syndrome

NOCGUS

Developmental And Epileptic Encephalopathy 66

DEE66	Epileptic Encephalopathy, Early Infantile, 66
Eiee66	Developmental And Epileptic Encephalopathy, 66
Early Infantile Epileptic Encephalopathy 66	Encephalopathy, Epileptic, Early Infantile, Type 66

Body Dysmorphic Disorder

Dysmorphophobia	Body Dysmorphia
Dysmorphic Syndrome	Body Dysmorphic Disorders

Familial Isolated Trichomegaly

Long Eyelashes

Tcmgly

Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations

MCCCHCM

Coloboma Of Macula

Coloboma	Congenital Ocular Coloboma
Microphthalmia, Isolated, With Coloboma	Agenesis Of Macula
Hereditary Macular Coloboma	Ocular Coloboma
Coloboma Of Eye	Macular Coloboma
Uveoretinal Coloboma

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

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

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-13523	PAC-1		99.93%	Phase 2

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-P99509	Zelminemab	Inhibitor	98.79%	Phase 2

Pre-clinical Phase

Bioactive Molecules (11)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-129937A	GNE-987	Inhibitor	99.91%	Unkown
HY-147557	PAC1R antagonist 1		98.43%	Unkown
HY-133529	PA-8		97.00%	Unkown
HY-129421	PA-9		99.60%	Unkown
HY-P1845A	PACAP-38 (31-38), human, mouse, rat TFA	Inducer	98.33%	Unkown
HY-P1845	PACAP-38 (31-38), human, mouse, rat	Inducer	99.98%	Unkown
HY-P0176A	PACAP (1-27), human, ovine, rat TFA		99.87%	Unkown
HY-P0176	PACAP (1-27), human, ovine, rat		99.79%	Unkown
HY-129937	(S)-GNE-987	Inhibitor	/	Unkown
HY-RS09955	PACS1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-119158	VU0652925		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	PACS1	VGNC	VGNC:75697
Felis catus	PACS1	VGNC	VGNC:64019
Mus musculus	PACS1	MGD	MGI:1277113
Rattus norvegicus	PACS1	RGD	RGD:620579
Bos taurus	PACS1	VGNC	VGNC:32541
Canis familiaris	PACS1	VGNC	VGNC:44229

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