Q9Y6F6 (MRVI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot
Last modified
May 1, 2013.
Version 77.
History...
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order
Names·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize orderNames and origin
| Protein names | Recommended name: Protein MRVI1 Alternative name(s): Inositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate JAW1-related protein MRVI1 | ||||
| Gene names |
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| Organism | Homo sapiens (Human) [Reference proteome] | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo![]() |
Protein attributes
| Sequence length | 885 AA. |
| Sequence status | Complete. |
| Protein existence | Evidence at protein level |
General annotation (Comments)
| Function | Plays a role as NO/PRKG1-dependent regulator of IP3-induced calcium release; its phosphorylation by PRKG1 inhibits bradykinin and IP3-induced calcium release from intracellular stores. Recruits PRKG1 to the endoplasmic reticulum and may mediate the assembly of PRKG1 and ITPR1 in a macrocomplex. Involved in PRKG1 signaling cascade leading to inhibition of platelet activation and aggregation. Mediates also NO-dependent inhibition of calcium signaling in gastrointestinal smooth muscle contributing to NO-dependent relaxation. Ref.6 |
| Subunit structure | Part of cGMP kinase signaling complex at least composed of ACTA2/alpha-actin, CNN1/calponin H1, PLN/phospholamban, PRKG1 and ITPR1 By similarity. Interacts with PRKG1/cGKI-beta and ITPR1/IP3R type I. Ref.7 |
| Subcellular location | Cytoplasm › perinuclear region. Sarcoplasmic reticulum By similarity. Membrane; Single-pass membrane protein Potential. |
| Tissue specificity | Expressed in the colon, rectum, and cultured colonic smooth muscle. Detected in various cancer cell lines. Ref.1 Ref.6 |
| Induction | By silencing of the transcription factor BTF3. Ref.8 |
| Post-translational modification | Phosphorylated by PRKG1/cGKI-beta; Ser-367 showed constitutive phosphorylation in platelets Whereas Ser-657 is only phosphorylated in presence of cGMP and nitric oxide (NO); Ser-670 is phosphorylated in resting platelets but increases in presence of cGMP and NO. PRKG1 inhibitor prevents phosphorylation of Ser-657 and Ser-670 in response to NO and cGMP. Ref.7 |
| Sequence caution | The sequence AAD25922.1 differs from that shown. Reason: Frameshift at position 1. The sequence AAD25923.1 differs from that shown. Reason: Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon. |
Ontologies
| Keywords | |
|---|---|
| Cellular component | Cytoplasm Membrane Sarcoplasmic reticulum |
| Coding sequence diversity | Alternative splicing Polymorphism |
| Domain | Coiled coil Transmembrane Transmembrane helix |
| PTM | Phosphoprotein |
| Technical term | Complete proteome Reference proteome |
| Gene Ontology (GO) | |
| Biological_process | blood coagulation Traceable author statement. Source: Reactome |
| Cellular_component | endoplasmic reticulum membrane Traceable author statement Ref.1. Source: ProtInc integral to membraneInferred from electronic annotation. Source: UniProtKB-KW perinuclear region of cytoplasmInferred from electronic annotation. Source: UniProtKB-SubCell platelet dense tubular network membraneTraceable author statement. Source: Reactome sarcoplasmic reticulumInferred from electronic annotation. Source: UniProtKB-SubCell |
| Complete GO annotation... | |
Alternative products
| This entry describes 8 isoforms produced by alternative splicing. [Align] [Select] | ||||||
| Isoform 1 (identifier: Q9Y6F6-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. | ||||||
| Isoform 2 (identifier: Q9Y6F6-2) Also known as: MRVI1A; The sequence of this isoform differs from the canonical sequence as follows: 65-65: G → GQ | ||||||
| Isoform 3 (identifier: Q9Y6F6-3) Also known as: MRVI1B; The sequence of this isoform differs from the canonical sequence as follows: 1-83: MGMDLTCPFG...SCSPTPTIVL → M | ||||||
| Isoform 4 (identifier: Q9Y6F6-4) The sequence of this isoform differs from the canonical sequence as follows: 209-209: D → GLDVCSGPPSPLPGAPPQK | ||||||
| Isoform 5 (identifier: Q9Y6F6-5) The sequence of this isoform differs from the canonical sequence as follows: 1-83: MGMDLTCPFG...SCSPTPTIVL → M 209-209: D → GLDVCSGPPSPLPGAPPQK | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 6 (identifier: Q9Y6F6-6) The sequence of this isoform differs from the canonical sequence as follows: 1-288: Missing. | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 7 (identifier: Q9Y6F6-7) The sequence of this isoform differs from the canonical sequence as follows: 1-13: MGMDLTCPFGISP → MVKAPQSEERLARGGKENNSVL 209-209: D → GLDVCSGPPSPLPGAPPQK | ||||||
| Note: No experimental confirmation available. | ||||||
| Isoform 8 (identifier: Q9Y6F6-8) The sequence of this isoform differs from the canonical sequence as follows: 1-13: MGMDLTCPFGISP → MVKAPQSEERLARGGKENNSVL 209-209: D → GLDVCSGPPSPLPGAPPQK 210-241: GDEADVSSPHPGEPNVPKGLADRKQNDQRKVS → GDEADVSSPHPGEP 242-429: Missing. | ||||||
| Note: No experimental confirmation available. |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 885 | 885 | Protein MRVI1 | PRO_0000305292 | |||||
Regions | |||||||||
| Transmembrane | 825 – 845 | 21 | Helical; Potential | ||||||
| Region | 144 – 176 | 33 | Interaction with PRKG1 By similarity | ||||||
| Region | 508 – 554 | 47 | Interaction with ITPR1 By similarity | ||||||
| Coiled coil | 521 – 619 | 99 | Potential | ||||||
| Compositional bias | 742 – 809 | 68 | Glu-rich | ||||||
Amino acid modifications | |||||||||
| Modified residue | 110 | 1 | Phosphoserine By similarity | ||||||
| Modified residue | 367 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 657 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 670 | 1 | Phosphoserine Ref.7 | ||||||
Natural variations | |||||||||
| Alternative sequence | 1 – 288 | 288 | Missing in isoform 6. | VSP_040452 | |||||
| Alternative sequence | 1 – 83 | 83 | MGMDL…PTIVL → M in isoform 3 and isoform 5. | VSP_028341 | |||||
| Alternative sequence | 1 – 13 | 13 | MGMDL…FGISP → MVKAPQSEERLARGGKENNS VL in isoform 7 and isoform 8. | VSP_046361 | |||||
| Alternative sequence | 65 | 1 | G → GQ in isoform 2. | VSP_028342 | |||||
| Alternative sequence | 209 | 1 | D → GLDVCSGPPSPLPGAPPQK in isoform 4, isoform 5, isoform 7 and isoform 8. | VSP_040453 | |||||
| Alternative sequence | 210 – 241 | 32 | GDEAD…QRKVS → GDEADVSSPHPGEP in isoform 8. | VSP_046362 | |||||
| Alternative sequence | 242 – 429 | 188 | Missing in isoform 8. | VSP_046363 | |||||
| Natural variant | 11 | 1 | I → V. Ref.1 Ref.2 Corresponds to variant rs4909945 [ dbSNP | Ensembl ]. | VAR_056942 | |||||
| Natural variant | 28 | 1 | A → T. Corresponds to variant rs34302310 [ dbSNP | Ensembl ]. | VAR_056943 | |||||
| Natural variant | 70 | 1 | A → T. Ref.1 Ref.2 Corresponds to variant rs2162044 [ dbSNP | Ensembl ]. | VAR_056944 | |||||
| Natural variant | 186 | 1 | P → S. Corresponds to variant rs35857561 [ dbSNP | Ensembl ]. | VAR_056945 | |||||
| Natural variant | 270 | 1 | Q → H. Corresponds to variant rs34398944 [ dbSNP | Ensembl ]. | VAR_056946 | |||||
| Natural variant | 334 | 1 | Q → H. Corresponds to variant rs34398944 [ dbSNP | Ensembl ]. | VAR_058298 | |||||
Experimental info | |||||||||
| Sequence conflict | 42 | 1 | A → G in AAD25922. Ref.1 | ||||||
| Sequence conflict | 57 | 1 | P → S in AAD25922. Ref.1 | ||||||
| Sequence conflict | 174 | 1 | R → M in BAH12320. Ref.2 | ||||||
| Sequence conflict | 209 | 1 | D → E in AAD25922. Ref.1 | ||||||
| Sequence conflict | 209 | 1 | D → E in AAD25923. Ref.1 | ||||||
| Sequence conflict | 493 | 1 | S → G in BAH12320. Ref.2 | ||||||
| Sequence conflict | 607 | 1 | E → G in BAH12320. Ref.2 | ||||||
| Sequence conflict | 650 | 1 | P → L in AAD25922. Ref.1 | ||||||
| Sequence conflict | 650 | 1 | P → L in AAD25923. Ref.1 | ||||||
| Sequence conflict | 869 | 1 | R → K in AAD25922. Ref.1 | ||||||
| Sequence conflict | 869 | 1 | R → K in AAD25923. Ref.1 | ||||||
| Isoform 7: | |||||||||
| Sequence conflict | 9 | 1 | E → G in BAH12320. Ref.2 | ||||||
Sequences
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References
| « Hide 'large scale' references | |
| [1] | "Mrvi1, a common MRV integration site in BXH2 myeloid leukemias, encodes a protein with homology to a lymphoid-restricted membrane protein Jaw1." Shaughnessy J.D. Jr., Largaespada D.A., Tian E., Fletcher C.F., Cho B.C., Vyas P., Jenkins N.A., Copeland N.G. Oncogene 18:2069-2084(1999) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 2 AND 4), TISSUE SPECIFICITY, VARIANTS VAL-11 AND THR-70. |
| [2] | "Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. Sugano S.Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 5; 7 AND 8), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-170 (ISOFORM 1), VARIANTS VAL-11 AND THR-70. Tissue: Placenta, Thalamus and Uterus. |
| [3] | "Human chromosome 11 DNA sequence and analysis including novel gene identification." Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K., Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G. Sakaki Y.Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [4] | Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. Venter J.C.Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. |
| [5] | "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 6). Tissue: Brain. |
| [6] | "InsP3R-associated cGMP kinase substrate (IRAG) is essential for nitric oxide-induced inhibition of calcium signaling in human colonic smooth muscle." Fritsch R.M., Saur D., Kurjak M., Oesterle D., Schlossmann J., Geiselhoeringer A., Hofmann F., Allescher H.-D. J. Biol. Chem. 279:12551-12559(2004) [PubMed] [Europe PMC] [Abstract] Cited for: TISSUE SPECIFICITY, FUNCTION. |
| [7] | "IRAG mediates NO/cGMP-dependent inhibition of platelet aggregation and thrombus formation." Antl M., von Bruehl M.-L., Eiglsperger C., Werner M., Konrad I., Kocher T., Wilm M., Hofmann F., Massberg S., Schlossmann J. Blood 109:552-559(2007) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH PRKG1 AND ITPR1, PHOSPHORYLATION AT SER-367; SER-657 AND SER-670. |
| [8] | "Basic transcription factor 3 (BTF3) regulates transcription of tumor-associated genes in pancreatic cancer cells." Kusumawidjaja G., Kayed H., Giese N., Bauer A., Erkan M., Giese T., Hoheise J.D., Friess H., Kleeff J. Cancer Biol. Ther. 6:367-376(2007) [PubMed] [Europe PMC] [Abstract] Cited for: INDUCTION BY BTF3. |
| + | Additional computationally mapped references. |
Cross-references
Sequence databases | |
|---|---|
| EMBL GenBank DDBJ | AF081249 mRNA. Translation: AAD25922.1. Frameshift. AF081250 mRNA. Translation: AAD25923.1. Sequence problems. AK296336 mRNA. Translation: BAH12320.1. AK300358 mRNA. Translation: BAH13268.1. AK304702 mRNA. Translation: BAH14239.1. DA857260 mRNA. No translation available. AC009532 Genomic DNA. No translation available. CH471064 Genomic DNA. Translation: EAW68559.1. CH471064 Genomic DNA. Translation: EAW68560.1. CH471064 Genomic DNA. Translation: EAW68561.1. CH471064 Genomic DNA. Translation: EAW68562.1. CH471064 Genomic DNA. Translation: EAW68563.1. BC117127 mRNA. Translation: AAI17128.1. |
| IPI | IPI00295313. IPI00867598. IPI00921916. IPI00922700. IPI00940764. IPI00973721. IPI00985272. IPI01018664. |
| RefSeq | NP_001092049.2. NM_001098579.2. NP_001093633.1. NM_001100163.2. NP_001093637.1. NM_001100167.2. NP_001193810.1. NM_001206881.1. |
| UniGene | Hs.501898. Hs.680194. |
3D structure databases | |
| ProteinModelPortal | Q9Y6F6. |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | Q9Y6F6. 1 interaction. |
| STRING | 9606.ENSP00000414598. |
PTM databases | |
| PhosphoSite | Q9Y6F6. |
Polymorphism databases | |
| DMDM | 158706131. |
Proteomic databases | |
| PaxDb | Q9Y6F6. |
| PRIDE | Q9Y6F6. |
Protocols and materials databases | |
| DNASU | 10335. |
| StructuralBiologyKnowledgebase | Search... |
Genome annotation databases | |
| Ensembl | ENST00000421747; ENSP00000414598; ENSG00000072952. ENST00000423302; ENSP00000412130; ENSG00000072952. ENST00000424001; ENSP00000401205; ENSG00000072952. ENST00000436272; ENSP00000412229; ENSG00000072952. ENST00000541483; ENSP00000437784; ENSG00000072952. ENST00000545852; ENSP00000441971; ENSG00000072952. ENST00000552103; ENSP00000446764; ENSG00000072952. ENST00000558540; ENSP00000453013; ENSG00000072952. |
| GeneID | 10335. |
| KEGG | hsa:10335. |
| UCSC | uc001miw.2. human. uc001mix.3. human. uc001miz.2. human. |
Organism-specific databases | |
| CTD | 10335. |
| GeneCards | GC11M010594. |
| HGNC | HGNC:7237. MRVI1. |
| HPA | HPA008704. |
| MIM | 604673. gene. |
| neXtProt | NX_Q9Y6F6. |
| PharmGKB | PA31032. |
| GenAtlas | Search... |
Phylogenomic databases | |
| eggNOG | NOG69910. |
| HOGENOM | HOG000113653. |
| HOVERGEN | HBG078204. |
| InParanoid | Q9Y6F6. |
| KO | K12337. |
| OrthoDB | EOG4JHCF9. |
Enzyme and pathway databases | |
| Reactome | REACT_604. Hemostasis. |
Gene expression databases | |
| ArrayExpress | Q9Y6F6. |
| Bgee | Q9Y6F6. |
| CleanEx | HS_MRVI1. |
| Genevestigator | Q9Y6F6. |
Family and domain databases | |
| InterPro | IPR008677. MRVI1. [Graphical view] |
| PANTHER | PTHR15352. PTHR15352. 1 hit. |
| Pfam | PF05781. MRVI1. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other | |
| GenomeRNAi | 10335. |
| NextBio | 39193. |
| SOURCE | Search... |
Entry information
| Entry name | MRVI1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q9Y6F6 Secondary accession number(s): B7Z3T4 Q9UNY1 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation program | Chordata Protein Annotation Program | ||||||||
| Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. | ||||||||
Relevant documents
| Human chromosome 11 Human chromosome 11: entries, gene names and cross-references to MIM |
| Human entries with polymorphisms or disease mutations List of human entries with polymorphisms or disease mutations |
| Human polymorphisms and disease mutations Index of human polymorphisms and disease mutations |
| MIM cross-references Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot |

Clusters with
