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Protein

Protein MRVI1

Gene

MRVI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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.1 Publication

Enzyme and pathway databases

BioCyciZFISH:ENSG00000072952-MONOMER.
ReactomeiR-HSA-418457. cGMP effects.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein MRVI1
Alternative name(s):
Inositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate
JAW1-related protein MRVI1
Gene namesi
Name:MRVI1
Synonyms:IRAG, JAW1L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:7237. MRVI1.

Subcellular locationi

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei825 – 845HelicalSequence analysisAdd BLAST21

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

DisGeNETi10335.
OpenTargetsiENSG00000072952.
PharmGKBiPA31032.

Polymorphism and mutation databases

BioMutaiMRVI1.
DMDMi158706131.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003052921 – 885Protein MRVI1Add BLAST885

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei110PhosphoserineBy similarity1
Modified residuei367PhosphoserineCombined sources1 Publication1
Modified residuei657Phosphoserine1 Publication1
Modified residuei670Phosphoserine1 Publication1

Post-translational modificationi

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.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9Y6F6.
PeptideAtlasiQ9Y6F6.
PRIDEiQ9Y6F6.

PTM databases

iPTMnetiQ9Y6F6.
PhosphoSitePlusiQ9Y6F6.

Expressioni

Tissue specificityi

Expressed in the colon, rectum, and cultured colonic smooth muscle. Detected in various cancer cell lines.2 Publications

Inductioni

By silencing of the transcription factor BTF3.1 Publication

Gene expression databases

BgeeiENSG00000072952.
CleanExiHS_MRVI1.
ExpressionAtlasiQ9Y6F6. baseline and differential.
GenevisibleiQ9Y6F6. HS.

Organism-specific databases

HPAiHPA008704.

Interactioni

Subunit structurei

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.By similarity1 Publication

Protein-protein interaction databases

BioGridi115617. 3 interactors.
IntActiQ9Y6F6. 1 interactor.
STRINGi9606.ENSP00000412130.

Structurei

3D structure databases

ProteinModelPortaliQ9Y6F6.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni144 – 176Interaction with PRKG1By similarityAdd BLAST33
Regioni508 – 554Interaction with ITPR1By similarityAdd BLAST47

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili521 – 619Sequence analysisAdd BLAST99

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi742 – 809Glu-richAdd BLAST68

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IG5G. Eukaryota.
ENOG410XVI5. LUCA.
GeneTreeiENSGT00530000063722.
HOGENOMiHOG000113653.
HOVERGENiHBG078204.
InParanoidiQ9Y6F6.
KOiK12337.
OMAiNSYNSCA.
OrthoDBiEOG091G0JV9.
PhylomeDBiQ9Y6F6.
TreeFamiTF331789.

Family and domain databases

InterProiIPR008677. MRVI1.
[Graphical view]
PANTHERiPTHR15352. PTHR15352. 1 hit.
PfamiPF05781. MRVI1. 1 hit.
[Graphical view]

Sequences (9)i

Sequence statusi: Complete.

This entry describes 9 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y6F6-1) [UniParc]FASTAAdd to basket

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.

« Hide

        10         20         30         40         50
MGMDLTCPFG ISPACGAQAS WSIFGADAAE VPGTRGHSQQ EAAMPHIPED
60 70 80 90 100
EEPPGEPQAA QSPAGQGPPA AGVSCSPTPT IVLTGDATSP EGETDKNLAN
110 120 130 140 150
RVHSPHKRLS HRHLKVSTAS LTSVDPAGHI IDLVNDQLPD ISISEEDKKK
160 170 180 190 200
NLALLEEAKL VSERFLTRRG RKSRSSPGDS PSAVSPNLSP SASPTSSRSN
210 220 230 240 250
SLTVPTPPDG DEADVSSPHP GEPNVPKGLA DRKQNDQRKV SQGRLAPRPP
260 270 280 290 300
PVEKSKEIAI EQKENFDPLQ YPETTPKGLA PVTNSSGKMA LNSPQPGPVE
310 320 330 340 350
SELGKQLLKT GWEGSPLPRS PTQDAAGVGP PASQGRGPAG EPMGPEAGSK
360 370 380 390 400
AELPPTVSRP PLLRGLSWDS GPEEPGPRLQ KVLAKLPLAE EEKRFAGKAG
410 420 430 440 450
GKLAKAPGLK DFQIQVQPVR MQKLTKLREE HILMRNQNLV GLKLPDLSEA
460 470 480 490 500
AEQEKGLPSE LSPAIEEEES KSGLDVMPNI SDVLLRKLRV HRSLPGSAPP
510 520 530 540 550
LTEKEVENVF VQLSLAFRND SYTLESRINQ AERERNLTEE NTEKELENFK
560 570 580 590 600
ASITSSASLW HHCEHRETYQ KLLEDIAVLH RLAARLSSRA EVVGAVRQEK
610 620 630 640 650
RMSKATEVMM QYVENLKRTY EKDHAELMEF KKLANQNSSR SCGPSEDGVP
660 670 680 690 700
RTARSMSLTL GKNMPRRRVS VAVVPKFNAL NLPGQTPSSS SIPSLPALSE
710 720 730 740 750
SPNGKGSLPV TSALPALLEN GKTNGDPDCE ASAPALTLSC LEELSQETKA
760 770 780 790 800
RMEEEAYSKG FQEGLKKTKE LQDLKEEEEE QKSESPEEPE EVEETEEEEK
810 820 830 840 850
GPRSSKLEEL VHFLQVMYPK LCQHWQVIWM MAAVMLVLTV VLGLYNSYNS
860 870 880
CAEQADGPLG RSTCSAAQRD SWWSSGLQHE QPTEQ
Length:885
Mass (Da):96,145
Last modified:October 2, 2007 - v2
Checksum:i2C9C2390BA527D28
GO
Isoform 2 (identifier: Q9Y6F6-2) [UniParc]FASTAAdd to basket
Also known as: MRVI1A

The sequence of this isoform differs from the canonical sequence as follows:
     65-65: G → GQ

Show »
Length:886
Mass (Da):96,273
Checksum:i0F530C9C898ACC2C
GO
Isoform 3 (identifier: Q9Y6F6-3) [UniParc]FASTAAdd to basket
Also known as: MRVI1B

The sequence of this isoform differs from the canonical sequence as follows:
     1-83: MGMDLTCPFG...SCSPTPTIVL → M

Show »
Length:803
Mass (Da):88,026
Checksum:i21AE73B811DE409B
GO
Isoform 4 (identifier: Q9Y6F6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     209-209: D → GLDVCSGPPSPLPGAPPQK

Show »
Length:903
Mass (Da):97,829
Checksum:iC8B39FFD1BAA30F0
GO
Isoform 5 (identifier: Q9Y6F6-5) [UniParc]FASTAAdd to basket

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.
Show »
Length:821
Mass (Da):89,710
Checksum:i188EAD2A24983B9A
GO
Isoform 6 (identifier: Q9Y6F6-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-288: Missing.

Note: No experimental confirmation available.
Show »
Length:597
Mass (Da):65,878
Checksum:i944DEBF8A90C2AA6
GO
Isoform 7 (identifier: Q9Y6F6-7) [UniParc]FASTAAdd to basket

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.Curated
Show »
Length:912
Mass (Da):98,874
Checksum:iD3423E9FEDE8B2AA
GO
Isoform 8 (identifier: Q9Y6F6-8) [UniParc]FASTAAdd to basket

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.
Show »
Length:706
Mass (Da):76,892
Checksum:iCD8963E32BBFC493
GO
Isoform 9 (identifier: Q9Y6F6-9) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     209-209: D → GLDVCSGPPSPLPGAPPQQK

Note: No experimental confirmation available.
Show »
Length:904
Mass (Da):97,957
Checksum:i94891F4B4807A61A
GO

Sequence cautioni

The sequence AAD25922 differs from that shown. Reason: Frameshift at position 1.Curated
The sequence AAD25923 differs from that shown. Unusual initiator. The initiator methionine is coded by a non-canonical CTG leucine codon.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti42A → G in AAD25922 (PubMed:10321731).Curated1
Sequence conflicti57P → S in AAD25922 (PubMed:10321731).Curated1
Sequence conflicti174R → M in BAH12320 (PubMed:14702039).Curated1
Sequence conflicti209D → E in AAD25922 (PubMed:10321731).Curated1
Sequence conflicti209D → E in AAD25923 (PubMed:10321731).Curated1
Sequence conflicti493S → G in BAH12320 (PubMed:14702039).Curated1
Sequence conflicti607E → G in BAH12320 (PubMed:14702039).Curated1
Sequence conflicti650P → L in AAD25922 (PubMed:10321731).Curated1
Sequence conflicti650P → L in AAD25923 (PubMed:10321731).Curated1
Sequence conflicti869R → K in AAD25922 (PubMed:10321731).Curated1
Sequence conflicti869R → K in AAD25923 (PubMed:10321731).Curated1
Isoform 7 (identifier: Q9Y6F6-7)
Sequence conflicti9E → G in BAH12320 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05694211I → V.2 PublicationsCorresponds to variant rs4909945dbSNPEnsembl.1
Natural variantiVAR_05694328A → T.Corresponds to variant rs34302310dbSNPEnsembl.1
Natural variantiVAR_05694470A → T.2 PublicationsCorresponds to variant rs2162044dbSNPEnsembl.1
Natural variantiVAR_056945186P → S.Corresponds to variant rs35857561dbSNPEnsembl.1
Natural variantiVAR_056946270Q → H.Corresponds to variant rs34398944dbSNPEnsembl.1
Natural variantiVAR_058298334Q → H.Corresponds to variant rs34398944dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0404521 – 288Missing in isoform 6. 1 PublicationAdd BLAST288
Alternative sequenceiVSP_0283411 – 83MGMDL…PTIVL → M in isoform 3 and isoform 5. 1 PublicationAdd BLAST83
Alternative sequenceiVSP_0463611 – 13MGMDL…FGISP → MVKAPQSEERLARGGKENNS VL in isoform 7 and isoform 8. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_02834265G → GQ in isoform 2. 1 Publication1
Alternative sequenceiVSP_040453209D → GLDVCSGPPSPLPGAPPQK in isoform 4, isoform 5, isoform 7 and isoform 8. 2 Publications1
Alternative sequenceiVSP_047657209D → GLDVCSGPPSPLPGAPPQQK in isoform 9. Curated1
Alternative sequenceiVSP_046362210 – 241GDEAD…QRKVS → GDEADVSSPHPGEP in isoform 8. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_046363242 – 429Missing in isoform 8. 1 PublicationAdd BLAST188

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS44538.2. [Q9Y6F6-9]
CCDS44539.1. [Q9Y6F6-5]
CCDS44540.1. [Q9Y6F6-6]
CCDS55745.1. [Q9Y6F6-8]
CCDS55746.1. [Q9Y6F6-7]
RefSeqiNP_001092049.2. NM_001098579.2. [Q9Y6F6-9]
NP_001093633.1. NM_001100163.2. [Q9Y6F6-5]
NP_001093637.1. NM_001100167.2. [Q9Y6F6-6]
NP_001193809.1. NM_001206880.1. [Q9Y6F6-8]
NP_001193810.1. NM_001206881.1. [Q9Y6F6-6]
NP_569056.4. NM_130385.3. [Q9Y6F6-7]
UniGeneiHs.501898.
Hs.680194.

Genome annotation databases

EnsembliENST00000423302; ENSP00000412130; ENSG00000072952. [Q9Y6F6-7]
ENST00000424001; ENSP00000401205; ENSG00000072952. [Q9Y6F6-6]
ENST00000531107; ENSP00000432436; ENSG00000072952. [Q9Y6F6-9]
ENST00000534266; ENSP00000433296; ENSG00000072952. [Q9Y6F6-6]
ENST00000541483; ENSP00000437784; ENSG00000072952. [Q9Y6F6-8]
ENST00000547195; ENSP00000448278; ENSG00000072952. [Q9Y6F6-6]
ENST00000558540; ENSP00000453013; ENSG00000072952. [Q9Y6F6-6]
GeneIDi10335.
KEGGihsa:10335.
UCSCiuc001mix.4. human. [Q9Y6F6-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS44538.2. [Q9Y6F6-9]
CCDS44539.1. [Q9Y6F6-5]
CCDS44540.1. [Q9Y6F6-6]
CCDS55745.1. [Q9Y6F6-8]
CCDS55746.1. [Q9Y6F6-7]
RefSeqiNP_001092049.2. NM_001098579.2. [Q9Y6F6-9]
NP_001093633.1. NM_001100163.2. [Q9Y6F6-5]
NP_001093637.1. NM_001100167.2. [Q9Y6F6-6]
NP_001193809.1. NM_001206880.1. [Q9Y6F6-8]
NP_001193810.1. NM_001206881.1. [Q9Y6F6-6]
NP_569056.4. NM_130385.3. [Q9Y6F6-7]
UniGeneiHs.501898.
Hs.680194.

3D structure databases

ProteinModelPortaliQ9Y6F6.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115617. 3 interactors.
IntActiQ9Y6F6. 1 interactor.
STRINGi9606.ENSP00000412130.

PTM databases

iPTMnetiQ9Y6F6.
PhosphoSitePlusiQ9Y6F6.

Polymorphism and mutation databases

BioMutaiMRVI1.
DMDMi158706131.

Proteomic databases

PaxDbiQ9Y6F6.
PeptideAtlasiQ9Y6F6.
PRIDEiQ9Y6F6.

Protocols and materials databases

DNASUi10335.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000423302; ENSP00000412130; ENSG00000072952. [Q9Y6F6-7]
ENST00000424001; ENSP00000401205; ENSG00000072952. [Q9Y6F6-6]
ENST00000531107; ENSP00000432436; ENSG00000072952. [Q9Y6F6-9]
ENST00000534266; ENSP00000433296; ENSG00000072952. [Q9Y6F6-6]
ENST00000541483; ENSP00000437784; ENSG00000072952. [Q9Y6F6-8]
ENST00000547195; ENSP00000448278; ENSG00000072952. [Q9Y6F6-6]
ENST00000558540; ENSP00000453013; ENSG00000072952. [Q9Y6F6-6]
GeneIDi10335.
KEGGihsa:10335.
UCSCiuc001mix.4. human. [Q9Y6F6-1]

Organism-specific databases

CTDi10335.
DisGeNETi10335.
GeneCardsiMRVI1.
HGNCiHGNC:7237. MRVI1.
HPAiHPA008704.
MIMi604673. gene.
neXtProtiNX_Q9Y6F6.
OpenTargetsiENSG00000072952.
PharmGKBiPA31032.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IG5G. Eukaryota.
ENOG410XVI5. LUCA.
GeneTreeiENSGT00530000063722.
HOGENOMiHOG000113653.
HOVERGENiHBG078204.
InParanoidiQ9Y6F6.
KOiK12337.
OMAiNSYNSCA.
OrthoDBiEOG091G0JV9.
PhylomeDBiQ9Y6F6.
TreeFamiTF331789.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000072952-MONOMER.
ReactomeiR-HSA-418457. cGMP effects.

Miscellaneous databases

GeneWikiiMRVI1.
GenomeRNAii10335.
PROiQ9Y6F6.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000072952.
CleanExiHS_MRVI1.
ExpressionAtlasiQ9Y6F6. baseline and differential.
GenevisibleiQ9Y6F6. HS.

Family and domain databases

InterProiIPR008677. MRVI1.
[Graphical view]
PANTHERiPTHR15352. PTHR15352. 1 hit.
PfamiPF05781. MRVI1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMRVI1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6F6
Secondary accession number(s): B7Z3T4
, B7Z6I2, B7Z9A3, E9PQY6, F5H6A1, J3KQZ7, Q17S00, Q9UNY1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 2, 2007
Last modified: November 2, 2016
This is version 108 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.