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Protein

Protein MRVI1

Gene

MRVI1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

ReactomeiR-HSA-418457 cGMP effects
SIGNORiQ9Y6F6

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

EuPathDBiHostDB:ENSG00000072952.18
HGNCiHGNC:7237 MRVI1
MIMi604673 gene
neXtProtiNX_Q9Y6F6

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transmembranei844 – 864HelicalSequence analysisAdd BLAST21

Keywords - Cellular componenti

Cytoplasm, Membrane, Sarcoplasmic reticulum

Pathology & Biotechi

Organism-specific databases

DisGeNETi10335
PharmGKBiPA31032

Polymorphism and mutation databases

BioMutaiMRVI1
DMDMi158706131

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003052921 – 904Protein MRVI1Add BLAST904

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei110PhosphoserineBy similarity1
Modified residuei386PhosphoserineCombined sources1 Publication1
Modified residuei676Phosphoserine1 Publication1
Modified residuei689Phosphoserine1 Publication1

Post-translational modificationi

Phosphorylated by PRKG1/cGKI-beta; Ser-386 showed constitutive phosphorylation in platelets Whereas Ser-676 is only phosphorylated in presence of cGMP and nitric oxide (NO); Ser-689 is phosphorylated in resting platelets but increases in presence of cGMP and NO. PRKG1 inhibitor prevents phosphorylation of Ser-676 and Ser-689 in response to NO and cGMP.1 Publication

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ9Y6F6
PeptideAtlasiQ9Y6F6
PRIDEiQ9Y6F6
ProteomicsDBi86663
86664 [Q9Y6F6-2]
86665 [Q9Y6F6-3]
86666 [Q9Y6F6-4]
86667 [Q9Y6F6-5]
86668 [Q9Y6F6-6]

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, 11 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
Regioni527 – 573Interaction with ITPR1By similarityAdd BLAST47

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili540 – 638Sequence analysisAdd BLAST99

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi761 – 828Glu-richAdd BLAST68

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiENOG410IG5G Eukaryota
ENOG410XVI5 LUCA
HOGENOMiHOG000113653
HOVERGENiHBG078204
InParanoidiQ9Y6F6
KOiK12337
OMAiRDSWWSS
OrthoDBiEOG091G0JV9
PhylomeDBiQ9Y6F6
TreeFamiTF331789

Family and domain databases

InterProiView protein in InterPro
IPR008677 MRVI1
PANTHERiPTHR15352 PTHR15352, 1 hit
PfamiView protein in Pfam
PF05781 MRVI1, 1 hit

Sequences (9)i

Sequence statusi: Complete.

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

Isoform 9 (identifier: Q9Y6F6-9) [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
SLTVPTPPGL DVCSGPPSPL PGAPPQQKGD EADVSSPHPG EPNVPKGLAD
260 270 280 290 300
RKQNDQRKVS QGRLAPRPPP VEKSKEIAIE QKENFDPLQY PETTPKGLAP
310 320 330 340 350
VTNSSGKMAL NSPQPGPVES ELGKQLLKTG WEGSPLPRSP TQDAAGVGPP
360 370 380 390 400
ASQGRGPAGE PMGPEAGSKA ELPPTVSRPP LLRGLSWDSG PEEPGPRLQK
410 420 430 440 450
VLAKLPLAEE EKRFAGKAGG KLAKAPGLKD FQIQVQPVRM QKLTKLREEH
460 470 480 490 500
ILMRNQNLVG LKLPDLSEAA EQEKGLPSEL SPAIEEEESK SGLDVMPNIS
510 520 530 540 550
DVLLRKLRVH RSLPGSAPPL TEKEVENVFV QLSLAFRNDS YTLESRINQA
560 570 580 590 600
ERERNLTEEN TEKELENFKA SITSSASLWH HCEHRETYQK LLEDIAVLHR
610 620 630 640 650
LAARLSSRAE VVGAVRQEKR MSKATEVMMQ YVENLKRTYE KDHAELMEFK
660 670 680 690 700
KLANQNSSRS CGPSEDGVPR TARSMSLTLG KNMPRRRVSV AVVPKFNALN
710 720 730 740 750
LPGQTPSSSS IPSLPALSES PNGKGSLPVT SALPALLESG KTNGDPDCEA
760 770 780 790 800
SAPALTLSCL EELSQETKAR MEEEAYSKGF QEGLKKTKEL QDLKEEEEEQ
810 820 830 840 850
KSESPEEPEE VEETEEEEKG PRSSKLEELV HFLQVMYPKL CQHWQVIWMM
860 870 880 890 900
AAVMLVLTVV LGLYNSYNSC AEQADGPLGR STCSAAQRDS WWSSGLQHEQ

PTEQ
Length:904
Mass (Da):97,930
Last modified:March 28, 2018 - v3
Checksum:i7E91A650C2247B2C
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
     209-228: GLDVCSGPPSPLPGAPPQQK → E

Show »
Length:886
Mass (Da):96,260
Checksum:i4429401068F81079
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
     209-228: GLDVCSGPPSPLPGAPPQQK → E

Show »
Length:803
Mass (Da):88,013
Checksum:i6AD43F34F0AC9CCE
GO
Isoform 4 (identifier: Q9Y6F6-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     227-227: Missing.

Note: No experimental confirmation available.
Show »
Length:903
Mass (Da):97,802
Checksum:i22AB26E69189EDC6
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
     227-227: Missing.

Note: No experimental confirmation available.
Show »
Length:821
Mass (Da):89,683
Checksum:iF2961431AEBBE6AC
GO
Isoform 6 (identifier: Q9Y6F6-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-307: Missing.

Show »
Length:597
Mass (Da):65,851
Checksum:i7E5552E3232FF790
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
     227-227: Missing.

Show »
Length:912
Mass (Da):98,847
Checksum:i395A878467CB6F9C
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
     227-227: Missing.
     229-260: GDEADVSSPHPGEPNVPKGLADRKQNDQRKVS → GDEADVSSPHPGEP
     261-448: Missing.

Show »
Length:706
Mass (Da):76,865
Checksum:i2791DAF8A19C19A5
GO
Isoform 1 (identifier: Q9Y6F6-1) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     209-228: GLDVCSGPPSPLPGAPPQQK → D

Note: No experimental confirmation available.
Show »
Length:885
Mass (Da):96,118
Checksum:iC6849A8B3071A01E
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 conflicti512S → G in BAH12320 (PubMed:14702039).Curated1
Sequence conflicti626E → G in BAH12320 (PubMed:14702039).Curated1
Sequence conflicti669P → L in AAD25922 (PubMed:10321731).Curated1
Sequence conflicti669P → L in AAD25923 (PubMed:10321731).Curated1
Sequence conflicti739S → N in AAD25922 (PubMed:10321731).Curated1
Sequence conflicti739S → N in AAD25923 (PubMed:10321731).Curated1
Sequence conflicti739S → N in BAH12320 (PubMed:14702039).Curated1
Sequence conflicti739S → N in BAH13268 (PubMed:14702039).Curated1
Sequence conflicti739S → N in BAH14239 (PubMed:14702039).Curated1
Sequence conflicti739S → N in EAW68559 (Ref. 4) Curated1
Sequence conflicti739S → N in EAW68560 (Ref. 4) Curated1
Sequence conflicti739S → N in EAW68561 (Ref. 4) Curated1
Sequence conflicti739S → N in EAW68562 (Ref. 4) Curated1
Sequence conflicti739S → N in EAW68563 (Ref. 4) Curated1
Sequence conflicti739S → N in AAI17128 (PubMed:15489334).Curated1
Sequence conflicti888R → K in AAD25922 (PubMed:10321731).Curated1
Sequence conflicti888R → 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 → V2 PublicationsCorresponds to variant dbSNP:rs4909945Ensembl.1
Natural variantiVAR_05694328A → T. Corresponds to variant dbSNP:rs34302310Ensembl.1
Natural variantiVAR_05694470A → T2 PublicationsCorresponds to variant dbSNP:rs2162044Ensembl.1
Natural variantiVAR_056945186P → S. Corresponds to variant dbSNP:rs35857561Ensembl.1
Natural variantiVAR_056946289Q → H. Corresponds to variant dbSNP:rs34398944Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0404521 – 307Missing in isoform 6. 1 PublicationAdd BLAST307
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_059440209 – 228GLDVC…PPQQK → D in isoform 1. CuratedAdd BLAST20
Alternative sequenceiVSP_059441209 – 228GLDVC…PPQQK → E in isoform 2 and isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_059442227Missing in isoform 4, isoform 5, isoform 7 and isoform 8. 2 Publications1
Alternative sequenceiVSP_046362229 – 260GDEAD…QRKVS → GDEADVSSPHPGEP in isoform 8. 1 PublicationAdd BLAST32
Alternative sequenceiVSP_046363261 – 448Missing 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
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
NP_001093633.1, NM_001100163.2
NP_001093637.1, NM_001100167.2
NP_001193809.1, NM_001206880.1
NP_001193810.1, NM_001206881.1
NP_569056.4, NM_130385.3
UniGeneiHs.501898
Hs.680194

Genome annotation databases

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

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMRVI1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y6F6
Secondary accession number(s): B7Z3T4
, B7Z6I2, B7Z9A3, E9PQY6, F5H6A1, J3KQZ7, Q17S00, Q9UNY1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: March 28, 2018
Last modified: June 20, 2018
This is version 118 of the entry and version 3 of the sequence. See 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

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