• Gene id: 79447

Gene Summary

• Gene Symbol: PAGR1   Gene   UCSC   Ensembl
• Aliases: C16orf53, GAS, PA1
• Gene name: PAXIP1 associated glutamate rich protein 1
• Alternate names: PAXIP1-associated glutamate-rich protein 1, PAXIP1-associated protein 1, PTIP-associated 1 protein, PTIP-associated protein 1, glutamate-rich coactivator associated with SRC1, glutamate-rich coactivator interacting with SRC1, glutamate-rich coactivator interact,
• Gene location: 16p11.2 (29816151: 29822488)     Exons: 3     NC_000016.10
• Gene summary(Entrez): C16ORF53 (PA1) is a component of a Set1-like multiprotein histone methyltransferase complex (Cho et al., 2007 [PubMed 17500065]).[supplied by OMIM, May 2008]
• OMIM: 612033

Protein Summary

• Protein general information: Q9BTK6  
  • Name: PAXIP1 associated glutamate rich protein 1 (Glutamate rich coactivator interacting with SRC1) (GAS) (PAXIP1 associated protein 1) (PTIP associated protein 1)
  • Length: 254  
  • Mass: 27716
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MSLARGHGDTAASTAAPLSEEGEVTSGLQALAVEDTGGPSASAGKAEDEGEGGREETEREGSGGEEAQGEVPSAG
  GEEPAEEDSEDWCVPCSDEEVELPADGQPWMPPPSEIQRLYELLAAHGTLELQAEILPRRPPTPEAQSEEERSDE
  EPEAKEEEEEKPHMPTEFDFDDEPVTPKDSLIDRRRTPGSSARSQKREARLDKVLSDMKRHKKLEEQILRTGRDL
  FSLDSEDPSPASPPLRSSGSSLFPRQRKY

• Structural information:
  • Interpro: IPR028213  
  • STRING: ENSP00000476774
• Other Databases: GeneCards:  PAGR1  Malacards:  PAGR1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1902808	positive regulation of cell cycle G1/S phase transition	IBA	biological process
GO:0044666	MLL3/4 complex	IBA	cellular component
GO:0033148	positive regulation of intracellular estrogen receptor signaling pathway	IBA	biological process
GO:0051568	histone H3-K4 methylation	IBA	biological process
GO:0030331	estrogen receptor binding	IBA	molecular function
GO:0033148	positive regulation of intracellular estrogen receptor signaling pathway	IDA	biological process
GO:0044666	MLL3/4 complex	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0030331	estrogen receptor binding	IDA	molecular function
GO:1902808	positive regulation of cell cycle G1/S phase transition	IMP	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0006310	DNA recombination	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0035097	histone methyltransferase complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray