PAGR1 - PAXIP1 associated glutamate rich protein 1 Gene

Also Known as GAS; PA1; C16orf53

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 79447

About PAGR1

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:29,816,152-29,822,489 (from NCBI)

This gene has 1 transcript (splice variant) and 175 orthologues. Ubiquitous expression in ovary (RPKM 11.5), prostate (RPKM 9.7) and 25 other tissues.

Summary

C16ORF53 (PA1) is a component of a Set1-like multiprotein Histone Methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM, May 2008]

PAGR1 Products (1)

mRNA	Protein	Name
NM_024516.4	NP_078792.1	PAXIP1-associated glutamate-rich protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables nuclear estrogen receptor binding	IDA IDA: Inferred from direct assay	19039327	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17178841	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of cell cycle G1/S phase transition	IMP IMP: Inferred from mutant phenotype	19039327	GOA
involved in positive regulation of intracellular estrogen receptor signaling pathway	IDA IDA: Inferred from direct assay	19039327	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	19039327	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of MLL3/4 complex	IDA IDA: Inferred from direct assay	17500065	GOA
part of MLL3/4 complex	IPI IPI: Inferred from physical interaction	23508102	GOA
part of histone methyltransferase complex	IDA IDA: Inferred from direct assay	17500065	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17500065	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

PAGR1 Protein Structure

PAXIP1_C

0
100
200
254 a.a.

Protein Preferred Names	Protein Names
PAXIP1-associated glutamate-rich protein 1	PAXIP1-associated protein 1

PAGR1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	PAGR1	Q9BTK6	Paxip1	Mus musculus	Q6NZQ4	Pull Down	17500065
Cross	PAGR1	Q9BTK6	Paxip1	Mus musculus	Q6NZQ4	Anti Tag CoIP	17500065
Intra	PAGR1	Q9BTK6	NCOA1	Homo sapiens	Q15788	Y2H	19039327
Intra	PAGR1	Q9BTK6	NCOA1	Homo sapiens	Q15788	Pull Down	19039327
Intra	PAGR1	Q9BTK6	PAXIP1	Homo sapiens	Q6ZW49	GMS	19124460
Intra	PAGR1	Q9BTK6	PAXIP1	Homo sapiens	Q6ZW49	Anti Bait CoIP	17500065
Intra	PAGR1	Q9BTK6	PAXIP1	Homo sapiens	Q6ZW49	Anti Bait CoIP	19124460
Intra	PAGR1	Q9BTK6	PAXIP1	Homo sapiens	Q6ZW49	Anti Tag CoIP	17500065
Intra	PAGR1	Q9BTK6	PAXIP1	Homo sapiens	Q6ZW49	Anti Tag CoIP	33961781
Intra	PAGR1	Q9BTK6	ESR1	Homo sapiens	P03372	Anti Tag CoIP	19039327
Intra	PAGR1	Q9BTK6	ESR1	Homo sapiens	P03372	Pull Down	19039327
Cross	PAGR1	Q9BTK6	Nr3c1	Rattus norvegicus	P06536	Y2H	23161582
Cross	PAGR1	Q9BTK6	Nr3c1	Rattus norvegicus	P06536	Anti Tag CoIP	23161582

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Brain Germinoma	Intracranial Germinoma Germinoma Of The Brain
Chromosome 16p11.2 Deletion Syndrome	Distal 16p11.2 Microdeletion Syndrome 16p11.2 Deletion Syndrome Del(16)(P11.2) Microdeletion 16p11.2 Monosomy 16p11.2 Autism, Susceptibility To, 14a Auts14a Distal Del(16)(P11.2) Distal Monosomy 16p11.2
Waardenburg Syndrome, Type 2d	Waardenburg Syndrome Type 2d WS2D Waardenburg Syndrome, Type Iid Waardenburg Syndrome Type Iid Waardenburg Syndrome 2d
Microcephaly 11, Primary, Autosomal Recessive	MCPH11 Primary Autosomal Recessive Microcephaly 11 Microcephaly, Type 11, Primary, Autosomal Recessive
Core Binding Factor Acute Myeloid Leukemia	Cbf Acute Myeloid Leukemia Cbf-Aml Core-Binding Factor Aml
Kleefstra Syndrome	9q34.3 Microdeletion Syndrome 9q Subtelomeric Deletion Syndrome 9q- Syndrome Chromosome 9q Deletion Syndrome 9q34.3 Deletion Syndrome 9qstds Chromosome 9q34.3 Deletion Syndrome Chromosome 9, Trisomy 9q
Developmental Coordination Disorder	Motor Skills Disorders
Kabuki Syndrome 1	Kabuki Syndrome Niikawa-Kuroki Syndrome Kabuki Make-Up Syndrome Kms KABUK1 Kabuki Make Up Syndrome Nks Kabuki Makeup Syndrome Kabuki Syndrome, Type 1
Central Nervous System Germ Cell Tumor	Central Nervous System Germ Cell Tumour Germ Cell Tumor Of The Cns Germ Cell Tumour Of The Cns
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Dysplasia, Spondyloepimetaphyseal, With Joint Laxity Semdjl Spondyloepimetaphyseal Dysplasia Joint Laxity Semd-Jl Semdjl1 Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1 Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type
Kleefstra Syndrome 1	9q Subtelomeric Deletion Syndrome KLEFS1 Chromosome 9q34.3 Deletion Syndrome 9q- Syndrome 9q34 Deletion Syndrome Kleefstra Syndrome Due To 9q34 Microdeletion Kleefstra Syndrome 9q-Syndrome 9qstds Kleefstra Syndrome Due To 9q Subtelomeric Deletion Kleefstra Syndrome Due To Del(9)(Q34) Kleefstra Syndrome Due To Monosomy 9q34 Chromosome 9q Subtelomeric Deletion Syndrome Kleefstra Syndrome, Type 1
Hair Follicle Neoplasm	Hair Matrix Neoplasm Hair Matrix Tumour
Childhood Brain Stem Glioma	Pediatric Glioma Of The Brainstem
Familial Isolated Trichomegaly	Long Eyelashes Tcmgly
Lissencephaly 1	LIS1 Classic Lissencephaly Ils Subcortical Laminar Heterotopia Lissencephaly Due To Lis1 Mutation Lissencephaly Sequence, Isolated Lissencephaly, Classic Pafah1b1-Related Lissencephaly Classical Lissencephaly Lissencephaly Type 1 Lissencephaly-1 Subcortical Band Heterotopia Double Cortex Lissencephaly Classic Lissencephaly Sequence Isolated Isolated Lissencephaly Sequence Type 1 Lissencephaly Lissencephaly Syndrome Type 1 SBH Sclh Lissencephaly, Type 1 Type I Lissencephaly
Glycogen Storage Disease Ia	Von Gierke Disease Glycogen Storage Disease Type I Glycogen Storage Disease I Hepatorenal Form Of Glycogen Storage Disease Hepatorenal Glycogenosis Glucose-6-Phosphatase Deficiency Glycogen Storage Disease, Type I Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ia GSD1A Gsd1 Von Gierke'S Disease Glycogen Storage Disease Type 1a Glycogen Storage Disease 1a Glucose-6-Phosphate Transport Defect Gsd Ia Deficiency Of Glucose-6-Phosphatase Glycogenosis Type I Glucose-6-Phosphatase Deficiency Glycogen Storage Disease Glycogenosis Type 1 Glucose-6-Phosphate Deficiency Gsd I Gsd Type I G6p Deficiency Type 1a Gsd Due To G6p Deficiency Type 1a Gsd Due To G6p Deficiency Type Ia Gsd Type 1a Gsdia Glycogen Storage Disease Due To G6p Deficiency Type Ia Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type 1a Glycogenosis Due To Glucose-6-Phosphatase Deficiency Type Ia Glycogenosis Type Ia Gsd-Ia Storage Disease, Glycogen, Type 1a Glycogen Storage Disease Type Ia
Sporadic Breast Cancer	Sporadic Breast Carcinoma
Chromosomal Deletion Syndrome
Pervasive Developmental Disorder	Pervasive Development Disorder Pervasive Developmental Disorders Pervasive Child Development Disorders Autistic Behavior Autism Spectrum Disorders
Velocardiofacial Syndrome	Shprintzen Syndrome VCFS Chromosome 22q11.2 Deletion Syndrome Vcf Syndrome Shprintzen Vcf Syndrome Vcf-Velocardiofacial Syndrome Velo-Cardio-Facial Syndrome Digeorge Syndrome 22q11 Deletion Syndrome Conotruncal Anomaly Face Syndrome
Pilomatrixoma	Pilomatricoma PTR Epithelioma Calcificans Of Malherbe Benign Pilomatricoma Calcifying Epithelioma Of Malherbe Pilomatricoma, Somatic Benign Pilomatrixoma Malherbe Calcifying Epithelioma
Cutaneous Fibrous Histiocytoma	Dermatofibroma Fibrohistiocytic Tumor Benign Cutaneous Fibrous Histiocytoma Fibrous Histiocytoma Of Skin Fibrous Xanthoma Of Skin Pleomorphic Fibroma Sclerosing Angioma Sclerosing Angioma Of Skin Fibrous Histiocytoma
Specific Developmental Disorder
Atrial Heart Septal Defect	Atrial Septal Defect Atrial Septal Defects Atrioseptal Defect Auricular Septal Defect Congenital Atrial Septal Defect Interatrial Septal Defect Interauricular Septal Defect Heart Septal Defects, Atrial Septal Defect, Atrial
Muscular Dystrophy, Congenital Merosin-Deficient, 1a	MDC1A Lama2-Related Muscular Dystrophy Atrophie Blanche Muscular Dystrophy, Congenital Merosin-Deficient Congenital Merosin-Deficient Muscular Dystrophy 1a Merosin-Negative Congenital Muscular Dystrophy Muscular Dystrophy White Matter Spongiosis Merosin Deficient Congenital Muscular Dystrophy Muscular Dystrophy Congenital, Merosin Negative Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient Cmd1a Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency Congenital Muscular Dystrophy Type 1a Laminin Alpha-2 Deficiency Merosin-Deficient Congenital Muscular Dystrophy Muscular Dystrophy, Congenital, Merosin-Deficient Lama2 Md Laminin Alpha 2 Deficiency Laminin Alpha-2 Deficient Muscular Dystrophy Merosin-Deficient Muscular Dystrophy Muscular Dystrophy Due To Lama2 Deficiency Merosin-Deficient Congenital Muscular Dystrophy 1a Cardiomyopathy, Familial Idiopathic
Multiple Endocrine Neoplasia, Type I	Multiple Endocrine Neoplasia Type 1 MEN1 Wermer Syndrome Multiple Endocrine Neoplasia 1 Multiple Endocrine Neoplasia, Type 1 Men I Endocrine Adenomatosis, Multiple Mea I Men Type I Wermer'S Syndrome Men1 Syndrome Multiple Endocrine Adenomatosis Endocrine Adenomatosis Multiple Men 1 Familial Multiple Endocrine Neoplasia Type I Neoplasia, Endocrine, Multiple, Type 1 Multiple Endocrine Neoplasia
Articulation Disorder	Phonological Disorder Articulation Disorders Articulation Impairment Speech Sound Disorders
Physical Disorder	Physical Illness
Maturity-Onset Diabetes Of The Young, Type 3	Maturity-Onset Diabetes Of The Young Type 3 MODY3 Mody, Type Iii Mody Type 3 Mody, Type 3 Maturity-Onset Diabetes Of The Young 3 Mody-3 Diabetes Of The Young, Maturity-Onset, Type 3
Maple Syrup Urine Disease	MSUD Bckd Deficiency Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Type Ii Branched Chain Ketoaciduria Classic Maple Syrup Urine Disease Intermittent Maple Syrup Urine Disease Maple Syrup Urine Disease, Type Ia Ketoacidaemia Bckdh Deficiency Branched-Chain 2-Ketoacid Dehydrogenase Deficiency Thiamine-Responsive Maple Syrup Urine Disease Intermediate Maple Syrup Urine Disease Maple Syrup Urine Disease Type 1a Maple Syrup Urine Disease Type 1b Maple Syrup Urine Disease Type 2 Maple Syrup Urine Disease, Type Ib Dihydrolipoamide Dehydrogenase Deficiency Branched-Chain Ketoacid Dehydrogenase Deficiency Maple Syrup Disease Ketoacidemia Classic Bckd Deficiency Classic Msud Classic Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Classic Branched-Chain Ketoaciduria Thiamine-Responsive Bckd Deficiency Thiamine-Responsive Msud Thiamine-Responsive Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Intermittent Bckd Deficiency Intermittent Msud Intermittent Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency Maple Syrup Urine Disease 1a MSUD1A Maple Syrup Urine Disease Type Ia Msud Type Ia Maple Syrup Urine Disease 1b MSUD1B Maple Syrup Urine Disease Type Ib Msud Type Ib Maple Syrup Urine Disease 2 MSUD2 Maple Syrup Urine Disease Type Ii Msud Type Ii Nadh Cytochrome B5 Reductase Deficiency Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency Ketonemia Maple Syrup Urine Disease, Type 1b Ketoacid Decarboxylase Deficiency Oxoacid Decarboxylase Deficiency Branched Chain Ketoacid Dehydrogenase Deficiency Msud - [Maple-Syrup-Urine Disease] Ketoaminoacidaemia Bckd - [Branched-Chain Alpha-Ketoacid Dehydrogenase Deficiency] Maple-Syrup-Urine Disorder Maple-Syrup-Urine Syndrome
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion
Psychotic Disorder	Psychotic Disorders Mental Or Behavioural Disorder Psychotic Mental Disorders
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Chromosomal Duplication Syndrome
Amelogenesis Imperfecta, Type Ig	Enamel-Renal Syndrome Ers Amelogenesis Imperfecta Type 1g AI1G Enamel-Renal-Gingival Syndrome Amelogenesis Imperfecta And Gingival Fibromatosis Syndrome Aigfs Amelogenesis Imperfecta, Hypoplastic, With Nephrocalcinosis Amelogenesis Imperfecta Hypoplastic With Nephrocalcinosis Amelogenesis Imperfecta Type Ig Amelogenesis Imperfecta-Nephrocalcinosis Syndrome Amelogenesis Imperfecta 1g Hypoplastic Amelogenesis Imperfecta With Nephrocalcinosis Amelogenesis Imperfecta Nephrocalcinosis
Attention Deficit-Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder ADHD Attention Deficit Disorder Attention Deficit-Hyperactivity Disorder, Susceptibility To Attention Deficit Disorder With Hyperactivity Hyperkinetic Disorder Hyperactivity Of Childhood Attention-Deficit/Hyperactivity Disorder Add Addh Attention Deficit Attention Deficit Disorder Of Childhood With Hyperactivity Attention Deficit Disorder With Hyperactivity Syndrome Hyperkinetic Syndrome Attention-Deficit Hyperactivity Disorder Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type Disturbance Of Activity And Attention Disorder Of Activity And Attention Adhd - [Attention Deficit Hyperactivity Disorder] Hyperkinetic Disorders Disorder Of Activity And Attention With Hyperkinesia Attention Deficit Syndrome With Hyperactivity
Brachydactyly
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly

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-RS09978	PAGR1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	PAGR1	VGNC	VGNC:54053
Felis catus	PAGR1	VGNC	VGNC:80636
Rattus norvegicus	PAGR1	RGD	RGD:1305592
Mus musculus	PAGR1	MGD	MGI:1914528
Macaca mulatta	PAGR1	VGNC	VGNC:104742
Bos taurus	PAGR1	VGNC	VGNC:97294
Others	PAGR1	NCBI