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Protein

Protein MRVI1

Gene

MRVI1

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-418457 cGMP effects

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9Y6F6

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein MRVI1
Alternative name(s):
Inositol 1,4,5-trisphosphate receptor-associated cGMP kinase substrate
JAW1-related protein MRVI1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MRVI1
Synonyms:IRAG, JAW1L
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000072952.18

Human Gene Nomenclature Database

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HGNCi
HGNC:7237 MRVI1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604673 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q9Y6F6

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei844 – 864HelicalSequence analysisAdd BLAST21

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Cellular componenti

Cytoplasm, Membrane, Sarcoplasmic reticulum

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Organism-specific databases

DisGeNET

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DisGeNETi
10335

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31032

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
MRVI1

Domain mapping of disease mutations (DMDM)

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DMDMi
158706131

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00003052921 – 904Protein MRVI1Add BLAST904

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei110PhosphoserineBy similarity1
Modified residuei386PhosphoserineCombined sources1 Publication1
Modified residuei676Phosphoserine1 Publication1
Modified residuei689Phosphoserine1 Publication1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>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

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y6F6

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9Y6F6

PeptideAtlas

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PeptideAtlasi
Q9Y6F6

PRoteomics IDEntifications database

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PRIDEi
Q9Y6F6

ProteomicsDB human proteome resource

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ProteomicsDBi
86663
86664 [Q9Y6F6-2]
86665 [Q9Y6F6-3]
86666 [Q9Y6F6-4]
86667 [Q9Y6F6-5]
86668 [Q9Y6F6-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q9Y6F6

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q9Y6F6

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By silencing of the transcription factor BTF3.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000072952 Expressed in 198 organ(s), highest expression level in substantia nigra

CleanEx database of gene expression profiles

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CleanExi
HS_MRVI1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y6F6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y6F6 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA008704

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
115617, 11 interactors

Protein interaction database and analysis system

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IntActi
Q9Y6F6, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000412130

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q9Y6F6

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni144 – 176Interaction with PRKG1By similarityAdd BLAST33
Regioni527 – 573Interaction with ITPR1By similarityAdd BLAST47

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili540 – 638Sequence analysisAdd BLAST99

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi761 – 828Glu-richAdd BLAST68

Keywords - Domaini

Coiled coil, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IG5G Eukaryota
ENOG410XVI5 LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000113653

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG078204

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y6F6

KEGG Orthology (KO)

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KOi
K12337

Database of Orthologous Groups

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OrthoDBi
560334at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9Y6F6

TreeFam database of animal gene trees

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TreeFami
TF331789

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR008677 MRVI1

The PANTHER Classification System

More...
PANTHERi
PTHR15352 PTHR15352, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF05781 MRVI1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (9+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 9 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 9 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YI08H0YI08_HUMAN
Protein MRVI1
MRVI1
821Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PJ61E9PJ61_HUMAN
Protein MRVI1
MRVI1
428Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YCL0H0YCL0_HUMAN
Protein MRVI1
MRVI1
117Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PRG4E9PRG4_HUMAN
Protein MRVI1
MRVI1
69Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PRH0E9PRH0_HUMAN
Protein MRVI1
MRVI1
68Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PNK7E9PNK7_HUMAN
Protein MRVI1
MRVI1
87Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YDM7H0YDM7_HUMAN
Protein MRVI1
MRVI1
63Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>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
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>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:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44538.2 [Q9Y6F6-9]
CCDS44539.1 [Q9Y6F6-5]
CCDS44540.1 [Q9Y6F6-6]
CCDS55745.1 [Q9Y6F6-8]
CCDS55746.1 [Q9Y6F6-7]

NCBI Reference Sequences

More...
RefSeqi
NP_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

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.501898
Hs.680194

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000423302; ENSP00000412130; ENSG00000072952
ENST00000424001; ENSP00000401205; ENSG00000072952
ENST00000531107; ENSP00000432436; ENSG00000072952
ENST00000534266; ENSP00000433296; ENSG00000072952
ENST00000541483; ENSP00000437784; ENSG00000072952
ENST00000547195; ENSP00000448278; ENSG00000072952
ENST00000558540; ENSP00000453013; ENSG00000072952

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
10335

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:10335

UCSC genome browser

More...
UCSCi
uc001mix.4 human [Q9Y6F6-9]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
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

3D structure databases

ProteinModelPortaliQ9Y6F6
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115617, 11 interactors
IntActiQ9Y6F6, 1 interactor
STRINGi9606.ENSP00000412130

PTM databases

iPTMnetiQ9Y6F6
PhosphoSitePlusiQ9Y6F6

Polymorphism and mutation databases

BioMutaiMRVI1
DMDMi158706131

Proteomic databases

jPOSTiQ9Y6F6
PaxDbiQ9Y6F6
PeptideAtlasiQ9Y6F6
PRIDEiQ9Y6F6
ProteomicsDBi86663
86664 [Q9Y6F6-2]
86665 [Q9Y6F6-3]
86666 [Q9Y6F6-4]
86667 [Q9Y6F6-5]
86668 [Q9Y6F6-6]

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
10335
Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
10335
DisGeNETi10335
EuPathDBiHostDB:ENSG00000072952.18

GeneCards: human genes, protein and diseases

More...
GeneCardsi
MRVI1
HGNCiHGNC:7237 MRVI1
HPAiHPA008704
MIMi604673 gene
neXtProtiNX_Q9Y6F6
PharmGKBiPA31032

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IG5G Eukaryota
ENOG410XVI5 LUCA
HOGENOMiHOG000113653
HOVERGENiHBG078204
InParanoidiQ9Y6F6
KOiK12337
OrthoDBi560334at2759
PhylomeDBiQ9Y6F6
TreeFamiTF331789

Enzyme and pathway databases

ReactomeiR-HSA-418457 cGMP effects
SIGNORiQ9Y6F6

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
MRVI1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
10335

Protein Ontology

More...
PROi
PR:Q9Y6F6

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000072952 Expressed in 198 organ(s), highest expression level in substantia nigra
CleanExiHS_MRVI1
ExpressionAtlasiQ9Y6F6 baseline and differential
GenevisibleiQ9Y6F6 HS

Family and domain databases

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

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMRVI1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y6F6
Secondary accession number(s): B7Z3T4
, B7Z6I2, B7Z9A3, E9PQY6, F5H6A1, J3KQZ7, Q17S00, Q9UNY1
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: March 28, 2018
Last modified: January 16, 2019
This is version 121 of the entry and version 3 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>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 polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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