• Gene id: 10335

Gene Summary

• Gene Symbol: IRAG1   Gene   UCSC   Ensembl
• Aliases: IRAG, JAW1L, MRVI1
• Gene name: inositol 1,4,5-triphosphate receptor associated 1
• Alternate names: protein MRVI1, IP3R-associated cGMP kinase substrate, JAW1-related protein MRVI1, inositol 1,4,5-triphosphate receptor-associated cGMP kinase substrate, inositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate, murine retrovirus integration site ,
• Gene location: 11p15.4 (44342649: 44380178)     Exons: 9     NC_000006.12
• Gene summary(Entrez): This gene is similar to a putative mouse tumor suppressor gene (Mrvi1) that is frequently disrupted by mouse AIDS-related virus (MRV). The encoded protein, which is found in the membrane of the endoplasmic reticulum, is similar to Jaw1, a lymphoid-restric
• OMIM: 604673

Protein Summary

• Protein general information: Q9Y6F6  
  • Name: Protein MRVI1 (Inositol 1,4,5 trisphosphate receptor associated cGMP kinase substrate) (JAW1 related protein MRVI1)
  • Length: 904  
  • Mass: 97957
  • Tissue specificity: Expressed in the colon, rectum, and cultured colonic smooth muscle. Detected in various cancer cell lines. {ECO
• Sequence:

  MGMDLTCPFGISPACGAQASWSIFGADAAEVPGTRGHSQQEAAMPHIPEDEEPPGEPQAAQSPAGQGPPAAGVSC
  SPTPTIVLTGDATSPEGETDKNLANRVHSPHKRLSHRHLKVSTASLTSVDPAGHIIDLVNDQLPDISISEEDKKK
  NLALLEEAKLVSERFLTRRGRKSRSSPGDSPSAVSPNLSPSASPTSSRSNSLTVPTPPGLDVCSGPPSPLPGAPP
  QQKGDEADVSSPHPGEPNVPKGLADRKQNDQRKVSQGRLAPRPPPVEKSKEIAIEQKENFDPLQYPETTPKGLAP
  VTNSSGKMALNSPQPGPVESELGKQLLKTGWEGSPLPRSPTQDAAGVGPPASQGRGPAGEPMGPEAGSKAELPPT
  VSRPPLLRGLSWDSGPEEPGPRLQKVLAKLPLAEEEKRFAGKAGGKLAKAPGLKDFQIQVQPVRMQKLTKLREEH
  ILMRNQNLVGLKLPDLSEAAEQEKGLPSELSPAIEEEESKSGLDVMPNISDVLLRKLRVHRSLPGSAPPLTEKEV
  ENVFVQLSLAFRNDSYTLESRINQAERERNLTEENTEKELENFKASITSSASLWHHCEHRETYQKLLEDIAVLHR
  LAARLSSRAEVVGAVRQEKRMSKATEVMMQYVENLKRTYEKDHAELMEFKKLANQNSSRSCGPSEDGVPRTARSM
  SLTLGKNMPRRRVSVAVVPKFNALNLPGQTPSSSSIPSLPALSESPNGKGSLPVTSALPALLENGKTNGDPDCEA
  SAPALTLSCLEELSQETKARMEEEAYSKGFQEGLKKTKELQDLKEEEEEQKSESPEEPEEVEETEEEEKGPRSSK
  LEELVHFLQVMYPKLCQHWQVIWMMAAVMLVLTVVLGLYNSYNSCAEQADGPLGRSTCSAAQRDSWWSSGLQHEQ
  PTEQ

• Structural information:
  • Interpro: IPR008677  
  • STRING: ENSP00000412130
• Other Databases: GeneCards:  IRAG1  Malacards:  IRAG1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0019934	cGMP-mediated signaling	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016529	sarcoplasmic reticulum	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0031095	platelet dense tubular network membrane	TAS	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0016529	sarcoplasmic reticulum	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04022	cGMP-PKG signaling pathway
hsa04270	Vascular smooth muscle contraction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq