Gene Gene information from NCBI Gene database.
Entrez ID 79447
Gene name PAXIP1 associated glutamate rich protein 1
Gene symbol PAGR1
Synonyms (NCBI Gene)
C16orf53GASPA1
Chromosome 16
Chromosome location 16p11.2
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]
miRNA miRNA information provided by mirtarbase database.
710
miRTarBase ID miRNA Experiments Reference
MIRT022081 hsa-miR-128-3p Sequencing 20371350
MIRT027142 hsa-miR-103a-3p Sequencing 20371350
MIRT032056 hsa-miR-16-5p Sequencing 20371350
MIRT038302 hsa-miR-130b-5p CLASH 23622248
MIRT037570 hsa-miR-744-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 17178841, 17500065, 19039327, 19124460, 23161582, 33961781
GO:0005634 Component Nucleus IDA 17500065
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm TAS
GO:0006281 Process DNA repair IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612033 28707 ENSG00000280789
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BTK6
Protein name PAXIP1-associated glutamate-rich protein 1 (Glutamate-rich coactivator interacting with SRC1) (GAS) (PAXIP1-associated protein 1) (PTIP-associated protein 1)
Protein function Its association with the histone methyltransferase MLL2/MLL3 complex is suggesting a role in epigenetic transcriptional activation. However, in association with PAXIP1/PTIP is proposed to function at least in part independently of the MLL2/MLL3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15364 PAXIP1_C 86 218 PAXIP1-associated-protein-1 C term PTIP binding protein Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:19039327}.
Sequence
MSLARGHGDTAASTAAPLSEEGEVTSGLQALAVEDTGGPSASAGKAEDEGEGGREETERE
GSGGEEAQGEVPSAGGEEPAEEDSEDWCVPCSDEEVELPADGQPWMPPPSEIQRLYELLA
AHGTLELQAEILPRRPPTPEAQSEEERSDEEPEAKEEEEEKPHMPTEFDFDDEPVTPKDS
LIDRRRTPGSSARSQKREARLDKVLSDMKRHKKLEEQI
LRTGRDLFSLDSEDPSPASPPL
RSSGSSLFPRQRKY
Sequence length 254
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
lethal neurodevelopmental disorder Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 30206454
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 30206454
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 23389729
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 18263814, 22140259
★☆☆☆☆
Found in Text Mining only
alpha Thalassemia Alpha thalassemia Pubtator 32831051 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 31149043
★☆☆☆☆
Found in Text Mining only
Anemia Sickle Cell Sickle cell anemia Pubtator 8781536 Associate
★☆☆☆☆
Found in Text Mining only
Anxiety Anxiety Disorder BEFREE 31625412
★☆☆☆☆
Found in Text Mining only
Anxiety Disorders Anxiety Disorder BEFREE 31625412
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 11939722 Associate
★☆☆☆☆
Found in Text Mining only