• Gene id: 7405

Gene Summary

• Gene Symbol: UVRAG   Gene   UCSC   Ensembl
• Aliases: DHTX, VPS38, p63
• Gene name: UV radiation resistance associated
• Alternate names: UV radiation resistance-associated gene protein, beclin 1 binding protein, disrupted in heterotaxy,
• Gene location: 11q13.5 (75815188: 76144231)     Exons: 22     NC_000011.10
• Gene summary(Entrez): This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1-PI(3)KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity o
• OMIM: 602493

Protein Summary

• Protein general information: Q9P2Y5  
  • Name: UV radiation resistance associated gene protein (p63)
  • Length: 699  
  • Mass: 78151
  • Tissue specificity: Highly expressed in brain, lung, kidney and liver. {ECO
• Sequence:

  MSASASVGGPVPQPPPGPAAALPPGSAARALHVELPSQQRRLRHLRNIAARNIVNRNGHQLLDTYFTLHLCSTEK
  IYKEFYRSEVIKNSLNPTWRSLDFGIMPDRLDTSVSCFVVKIWGGKENIYQLLIEWKVCLDGLKYLGQQIHARNQ
  NEIIFGLNDGYYGAPFEHKGYSNAQKTILLQVDQNCVRNSYDVFSLLRLHRAQCAIKQTQVTVQKIGKEIEEKLR
  LTSTSNELKKKSECLQLKILVLQNELERQKKALGREVALLHKQQIALQDKGSAFSAEHLKLQLQKESLNELRKEC
  TAKRELFLKTNAQLTIRCRQLLSELSYIYPIDLNEHKDYFVCGVKLPNSEDFQAKDDGSIAVALGYTAHLVSMIS
  FFLQVPLRYPIIHKGSRSTIKDNINDKLTEKEREFPLYPKGGEKLQFDYGVYLLNKNIAQLRYQHGLGTPDLRQT
  LPNLKNFMEHGLMVRCDRHHTSSAIPVPKRQSSIFGGADVGFSGGIPSPDKGHRKRASSENERLQYKTPPPSYNS
  ALAQPVTTVPSMGETERKITSLSSSLDTSLDFSKENKKKGEDLVGSLNGGHANVHPSQEQGEALSGHRATVNGTL
  LPSEQAGSASVQLPGEFHPVSEAELCCTVEQAEEIIGLEATGFASGDQLEAFNCIPVDSAVAVECDEQVLGEFEE
  FSRRIYALNENVSSFRRPRRSSDK

• Structural information:
  • Protein Domains: (23..14-)
    (/note="C2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041"-)
  • Interpro: IPR000008  IPR035892  IPR018791  
  • Prosite: PS50004
  • DIP: 48652
  • STRING: ENSP00000348455
• Other Databases: GeneCards:  UVRAG  Malacards:  UVRAG

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1901098	positive regulation of autophagosome maturation	TAS	biological process
GO:0071985	multivesicular body sorting pathway	TAS	biological process
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0051684	maintenance of Golgi location	IMP	biological process
GO:0006890	retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IMP	biological process
GO:0006914	autophagy	IMP	biological process
GO:0005768	endosome	IBA	cellular component
GO:0035493	SNARE complex assembly	IBA	biological process
GO:0000323	lytic vacuole	IBA	cellular component
GO:0000149	SNARE binding	IBA	molecular function
GO:0005813	centrosome	IDA	cellular component
GO:0030496	midbody	IDA	cellular component
GO:0097680	double-strand break repair via classical nonhomologous end joining	IDA	biological process
GO:0071900	regulation of protein serine/threonine kinase activity	IDA	biological process
GO:0070418	DNA-dependent protein kinase complex	IDA	colocalizes with
GO:0097352	autophagosome maturation	IDA	biological process
GO:0000421	autophagosome membrane	IDA	cellular component
GO:0032801	receptor catabolic process	IMP	biological process
GO:0006281	DNA repair	IMP	biological process
GO:0032465	regulation of cytokinesis	IMP	biological process
GO:0007098	centrosome cycle	IMP	biological process
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:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0006281	DNA repair	TAS	biological process
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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046718	viral entry into host cell	IEA	biological process
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0035493	SNARE complex assembly	IEA	biological process
GO:0007098	centrosome cycle	IEA	biological process
GO:0007059	chromosome segregation	IEA	biological process
GO:0000149	SNARE binding	IEA	molecular function
GO:0032991	protein-containing complex	IEA	cellular component
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0007051	spindle organization	IEA	biological process
GO:0006281	DNA repair	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0005776	autophagosome	IEA	cellular component
GO:0005770	late endosome	IEA	cellular component
GO:0005769	early endosome	IEA	cellular component
GO:0030496	midbody	IEA	cellular component
GO:0000775	chromosome, centromeric region	IEA	cellular component
GO:0005764	lysosome	IDA	cellular component
GO:0005770	late endosome	IDA	cellular component
GO:0005769	early endosome	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04140	Autophagy - animal

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq