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Q9Y6F6 (MRVI1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified May 1, 2013. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein MRVI1
Alternative name(s):
Inositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate
JAW1-related protein MRVI1
Gene names
Name:MRVI1
Synonyms:IRAG, JAW1L
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length885 AA.
Sequence statusComplete.
Protein existenceEvidence 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

Cytoplasmperinuclear 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.

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 885885Protein MRVI1
PRO_0000305292

Regions

Transmembrane825 – 84521Helical; Potential
Region144 – 17633Interaction with PRKG1 By similarity
Region508 – 55447Interaction with ITPR1 By similarity
Coiled coil521 – 61999 Potential
Compositional bias742 – 80968Glu-rich

Amino acid modifications

Modified residue1101Phosphoserine By similarity
Modified residue3671Phosphoserine Ref.7
Modified residue6571Phosphoserine Ref.7
Modified residue6701Phosphoserine Ref.7

Natural variations

Alternative sequence1 – 288288Missing in isoform 6.
VSP_040452
Alternative sequence1 – 8383MGMDL…PTIVL → M in isoform 3 and isoform 5.
VSP_028341
Alternative sequence1 – 1313MGMDL…FGISP → MVKAPQSEERLARGGKENNS VL in isoform 7 and isoform 8.
VSP_046361
Alternative sequence651G → GQ in isoform 2.
VSP_028342
Alternative sequence2091D → GLDVCSGPPSPLPGAPPQK in isoform 4, isoform 5, isoform 7 and isoform 8.
VSP_040453
Alternative sequence210 – 24132GDEAD…QRKVS → GDEADVSSPHPGEP in isoform 8.
VSP_046362
Alternative sequence242 – 429188Missing in isoform 8.
VSP_046363
Natural variant111I → V. Ref.1 Ref.2
Corresponds to variant rs4909945 [ dbSNP | Ensembl ].
VAR_056942
Natural variant281A → T.
Corresponds to variant rs34302310 [ dbSNP | Ensembl ].
VAR_056943
Natural variant701A → T. Ref.1 Ref.2
Corresponds to variant rs2162044 [ dbSNP | Ensembl ].
VAR_056944
Natural variant1861P → S.
Corresponds to variant rs35857561 [ dbSNP | Ensembl ].
VAR_056945
Natural variant2701Q → H.
Corresponds to variant rs34398944 [ dbSNP | Ensembl ].
VAR_056946
Natural variant3341Q → H.
Corresponds to variant rs34398944 [ dbSNP | Ensembl ].
VAR_058298

Experimental info

Sequence conflict421A → G in AAD25922. Ref.1
Sequence conflict571P → S in AAD25922. Ref.1
Sequence conflict1741R → M in BAH12320. Ref.2
Sequence conflict2091D → E in AAD25922. Ref.1
Sequence conflict2091D → E in AAD25923. Ref.1
Sequence conflict4931S → G in BAH12320. Ref.2
Sequence conflict6071E → G in BAH12320. Ref.2
Sequence conflict6501P → L in AAD25922. Ref.1
Sequence conflict6501P → L in AAD25923. Ref.1
Sequence conflict8691R → K in AAD25922. Ref.1
Sequence conflict8691R → K in AAD25923. Ref.1
Isoform 7:
Sequence conflict91E → G in BAH12320. Ref.2

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 2, 2007. Version 2.
Checksum: 2C9C2390BA527D28

FASTA88596,145
        10         20         30         40         50         60 
MGMDLTCPFG ISPACGAQAS WSIFGADAAE VPGTRGHSQQ EAAMPHIPED EEPPGEPQAA 

        70         80         90        100        110        120 
QSPAGQGPPA AGVSCSPTPT IVLTGDATSP EGETDKNLAN RVHSPHKRLS HRHLKVSTAS 

       130        140        150        160        170        180 
LTSVDPAGHI IDLVNDQLPD ISISEEDKKK NLALLEEAKL VSERFLTRRG RKSRSSPGDS 

       190        200        210        220        230        240 
PSAVSPNLSP SASPTSSRSN SLTVPTPPDG DEADVSSPHP GEPNVPKGLA DRKQNDQRKV 

       250        260        270        280        290        300 
SQGRLAPRPP PVEKSKEIAI EQKENFDPLQ YPETTPKGLA PVTNSSGKMA LNSPQPGPVE 

       310        320        330        340        350        360 
SELGKQLLKT GWEGSPLPRS PTQDAAGVGP PASQGRGPAG EPMGPEAGSK AELPPTVSRP 

       370        380        390        400        410        420 
PLLRGLSWDS GPEEPGPRLQ KVLAKLPLAE EEKRFAGKAG GKLAKAPGLK DFQIQVQPVR 

       430        440        450        460        470        480 
MQKLTKLREE HILMRNQNLV GLKLPDLSEA AEQEKGLPSE LSPAIEEEES KSGLDVMPNI 

       490        500        510        520        530        540 
SDVLLRKLRV HRSLPGSAPP LTEKEVENVF VQLSLAFRND SYTLESRINQ AERERNLTEE 

       550        560        570        580        590        600 
NTEKELENFK ASITSSASLW HHCEHRETYQ KLLEDIAVLH RLAARLSSRA EVVGAVRQEK 

       610        620        630        640        650        660 
RMSKATEVMM QYVENLKRTY EKDHAELMEF KKLANQNSSR SCGPSEDGVP RTARSMSLTL 

       670        680        690        700        710        720 
GKNMPRRRVS VAVVPKFNAL NLPGQTPSSS SIPSLPALSE SPNGKGSLPV TSALPALLEN 

       730        740        750        760        770        780 
GKTNGDPDCE ASAPALTLSC LEELSQETKA RMEEEAYSKG FQEGLKKTKE LQDLKEEEEE 

       790        800        810        820        830        840 
QKSESPEEPE EVEETEEEEK GPRSSKLEEL VHFLQVMYPK LCQHWQVIWM MAAVMLVLTV 

       850        860        870        880 
VLGLYNSYNS CAEQADGPLG RSTCSAAQRD SWWSSGLQHE QPTEQ 

« Hide

Isoform 2 (MRVI1A) [UniParc].

Checksum: 0F530C9C898ACC2C
Show »

FASTA88696,273
Isoform 3 (MRVI1B) [UniParc].

Checksum: 21AE73B811DE409B
Show »

FASTA80388,026
Isoform 4 [UniParc].

Checksum: C8B39FFD1BAA30F0
Show »

FASTA90397,829
Isoform 5 [UniParc].

Checksum: 188EAD2A24983B9A
Show »

FASTA82189,710
Isoform 6 [UniParc].

Checksum: 944DEBF8A90C2AA6
Show »

FASTA59765,878
Isoform 7 [UniParc].

Checksum: D3423E9FEDE8B2AA
Show »

FASTA91298,874
Isoform 8 [UniParc].

Checksum: CD8963E32BBFC493
Show »

FASTA70676,892

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. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., 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. expand/collapse author list , Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S., 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. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., 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.
IPIIPI00295313.
IPI00867598.
IPI00921916.
IPI00922700.
IPI00940764.
IPI00973721.
IPI00985272.
IPI01018664.
RefSeqNP_001092049.2. NM_001098579.2.
NP_001093633.1. NM_001100163.2.
NP_001093637.1. NM_001100167.2.
NP_001193810.1. NM_001206881.1.
UniGeneHs.501898.
Hs.680194.

3D structure databases

ProteinModelPortalQ9Y6F6.
ModBaseSearch...

Protein-protein interaction databases

IntActQ9Y6F6. 1 interaction.
STRING9606.ENSP00000414598.

PTM databases

PhosphoSiteQ9Y6F6.

Polymorphism databases

DMDM158706131.

Proteomic databases

PaxDbQ9Y6F6.
PRIDEQ9Y6F6.

Protocols and materials databases

DNASU10335.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000421747; ENSP00000414598; ENSG00000072952.
ENST00000423302; ENSP00000412130; ENSG00000072952.
ENST00000424001; ENSP00000401205; ENSG00000072952.
ENST00000436272; ENSP00000412229; ENSG00000072952.
ENST00000541483; ENSP00000437784; ENSG00000072952.
ENST00000545852; ENSP00000441971; ENSG00000072952.
ENST00000552103; ENSP00000446764; ENSG00000072952.
ENST00000558540; ENSP00000453013; ENSG00000072952.
GeneID10335.
KEGGhsa:10335.
UCSCuc001miw.2. human.
uc001mix.3. human.
uc001miz.2. human.

Organism-specific databases

CTD10335.
GeneCardsGC11M010594.
HGNCHGNC:7237. MRVI1.
HPAHPA008704.
MIM604673. gene.
neXtProtNX_Q9Y6F6.
PharmGKBPA31032.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG69910.
HOGENOMHOG000113653.
HOVERGENHBG078204.
InParanoidQ9Y6F6.
KOK12337.
OrthoDBEOG4JHCF9.

Enzyme and pathway databases

ReactomeREACT_604. Hemostasis.

Gene expression databases

ArrayExpressQ9Y6F6.
BgeeQ9Y6F6.
CleanExHS_MRVI1.
GenevestigatorQ9Y6F6.

Family and domain databases

InterProIPR008677. MRVI1.
[Graphical view]
PANTHERPTHR15352. PTHR15352. 1 hit.
PfamPF05781. MRVI1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi10335.
NextBio39193.
SOURCESearch...

Entry information

Entry nameMRVI1_HUMAN
AccessionPrimary (citable) accession number: Q9Y6F6
Secondary accession number(s): B7Z3T4 expand/collapse secondary AC list , B7Z6I2, B7Z9A3, F5H6A1, J3KQZ7, Q17S00, Q9UNY1
Entry history
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 2, 2007
Last modified: May 1, 2013
This is version 77 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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