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PACS1 - phosphofurin acidic cluster sorting protein 1 Gene

Also Known as SHMS; MRD17

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55690

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	References	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	References	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

PACS1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	PACS1	Q6VY07	IGF2R	Homo sapiens	P11717	Pull Down	16977309
Intra	PACS1	Q6VY07	APBB2	Homo sapiens	Q92870-2	Validated Y2H	32814053
Intra	PACS1	Q6VY07	APBB2	Homo sapiens	Q92870-2	Y2H Array	32814053
Intra	PACS1	Q6VY07	APBB2	Homo sapiens	Q92870-2	Y2H Pooling	32814053
Intra	PACS1	Q6VY07	CSNK2B	Homo sapiens	P67870	Anti Tag CoIP	16977309
Intra	PACS1	Q6VY07	CSNK2B	Homo sapiens	P67870	Y2H Array	16977309
Intra	PACS1	Q6VY07	GGA3	Homo sapiens	Q9NZ52	Anti Tag CoIP	16977309
Intra	PACS1	Q6VY07	GGA3	Homo sapiens	Q9NZ52	Pull Down	16977309
Intra	PACS1	Q6VY07	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Array	32814053
Intra	PACS1	Q6VY07	PMP22	Homo sapiens	A0A6Q8PF08	Validated Y2H	32814053
Intra	PACS1	Q6VY07	PMP22	Homo sapiens	A0A6Q8PF08	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

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
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-13523	PAC-1		99.88%	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 (15)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P0221	PACAP (1-38), human, ovine, rat	Inducer	99.99%	Unkown
HY-P0176	PACAP (1-27), human, ovine, rat		99.30%	Unkown
HY-P0221C	PACAP (1-38) free acid		99.94%	Unkown
HY-133529	PA-8		97.00%	Unkown
HY-147557	PA-915	Antagonist	99.17%	Unkown
HY-P0176A	PACAP (1-27), human, ovine, rat TFA		99.81%	Unkown
HY-129421	PA-9		99.73%	Unkown
HY-159632	PAR4 antagonist 6	Antagonist	99.35%	Unkown
HY-160694	cBu-Cit-GAL-02-221	Degrader	/	Unkown
HY-129937	(S)-GNE-987	Inhibitor	/	Unkown
HY-13523S	PAC-1-d8		/	Unkown
HY-P0221A	PACAP (1-38), human, ovine, rat TFA	Inducer	/	Unkown
HY-P3483	Maxadilan		/	Unkown
HY-RS09955	PACS1 Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	PACS1	NCBI