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    Marveld3 MARVEL (membrane-associating) domain containing 3 [ Mus musculus (house mouse) ]

    Gene ID: 73608, updated on 30-Apr-2024

    Summary

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    Official Symbol
    Marveld3provided by MGI
    Official Full Name
    MARVEL (membrane-associating) domain containing 3provided by MGI
    Primary source
    MGI:MGI:1920858
    See related
    Ensembl:ENSMUSG00000001672 AllianceGenome:MGI:1920858
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Marvd3; Mrvldc3; 1810006A16Rik
    Summary
    Predicted to enable mitogen-activated protein kinase kinase kinase binding activity. Acts upstream of or within cell-cell junction organization; negative regulation of epithelial cell migration; and negative regulation of epithelial cell proliferation. Located in bicellular tight junction. Is expressed in brain ventricle and choroid plexus; foregut; renal calyx; retina; and trachea. Orthologous to human MARVELD3 (MARVEL domain containing 3). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in colon adult (RPKM 9.8), large intestine adult (RPKM 7.0) and 9 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Marveld3 in Genome Data Viewer
    Location:
    8 D3; 8 57.38 cM
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 8 NC_000074.7 (110674541..110688837, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 8 NC_000074.6 (109947909..109962205, complement)

    Chromosome 8 - NC_000074.7Genomic Context describing neighboring genes Neighboring gene adaptor protein complex AP-1, gamma 1 subunit Neighboring gene predicted gene, 17344 Neighboring gene predicted gene, 25321 Neighboring gene PH domain and leucine rich repeat protein phosphatase 2 Neighboring gene STARR-seq mESC enhancer starr_22662 Neighboring gene STARR-positive B cell enhancer ABC_E6682 Neighboring gene STARR-positive B cell enhancer ABC_E6683 Neighboring gene STARR-positive B cell enhancer ABC_E10522 Neighboring gene STARR-positive B cell enhancer ABC_E8263 Neighboring gene STARR-seq mESC enhancer starr_22664 Neighboring gene 40S ribosomal protein S24 pseudogene Neighboring gene RIKEN cDNA 1700064F23 gene Neighboring gene STARR-seq mESC enhancer starr_22666 Neighboring gene tyrosine aminotransferase

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. MarvelD3 Is Upregulated in Ulcerative Colitis and Has Attenuating Effects during Colitis Indirectly Stabilizing the Intestinal Barrier. Weiß F, et al. Cells, 2022 May 4. PMID 35563847, Free PMC Article
    2. MarvelD3 couples tight junctions to the MEKK1-JNK pathway to regulate cell behavior and survival. Steed E, et al. J Cell Biol, 2014 Mar 3. PMID 24567356, Free PMC Article
    3. Tight junction-associated MARVEL proteins marveld3, tricellulin, and occludin have distinct but overlapping functions. Raleigh DR, et al. Mol Biol Cell, 2010 Apr 1. PMID 20164257, Free PMC Article
    4. Spatio-temporal expression pattern and role of the tight junction protein MarvelD3 in pancreas development and function. Heymans C, et al. Sci Rep, 2021 Jul 15. PMID 34267243, Free PMC Article
    5. Inactivation of the microRNA-183/96/182 cluster results in syndromic retinal degeneration. Lumayag S, et al. Proc Natl Acad Sci U S A, 2013 Feb 5. PMID 23341629, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MarvelD3 Is Upregulated in Ulcerative Colitis and Has Attenuating Effects during Colitis Indirectly Stabilizing the Intestinal Barrier.
      Title: MarvelD3 Is Upregulated in Ulcerative Colitis and Has Attenuating Effects during Colitis Indirectly Stabilizing the Intestinal Barrier.
    2. Spatio-temporal expression pattern and role of the tight junction protein MarvelD3 in pancreas development and function.
      Title: Spatio-temporal expression pattern and role of the tight junction protein MarvelD3 in pancreas development and function.
    3. marvelD3, occludin, and tricellulin define the tight junction-associated MARVEL protein family
      Title: Tight junction-associated MARVEL proteins marveld3, tricellulin, and occludin have distinct but overlapping functions.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables mitogen-activated protein kinase kinase kinase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in bicellular tight junction assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within cell-cell junction organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cell-cell junction organization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of JNK cascade ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of epithelial cell migration IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of epithelial cell migration ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of epithelial cell proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of epithelial cell proliferation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within protein localization to cell junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within response to osmotic stress ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in bicellular tight junction ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasmic vesicle ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of mRNA cleavage and polyadenylation specificity factor complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    MARVEL domain-containing protein 3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_028584.3 → NP_082860.2  MARVEL domain-containing protein 3 isoform a

      See identical proteins and their annotated locations for NP_082860.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the shorter isoform (a).
      Source sequence(s)
      AK007346, AV360109, AW107118, BB619320, BY088355
      Consensus CDS
      CCDS22657.1
      UniProtKB/Swiss-Prot
      Q8R109, Q9D956
      UniProtKB/TrEMBL
      G3X9A4
      Related
      ENSMUSP00000052309.7, ENSMUST00000051430.7
      Conserved Domains (2) summary
      PHA03231
      Location:341 → 374
      PHA03231; glycoprotein BALF4; Provisional
      pfam01284
      Location:232 → 355
      MARVEL; Membrane-associating domain

    2. NM_212447.2 → NP_997612.2  MARVEL domain-containing protein 3 isoform b

      See identical proteins and their annotated locations for NP_997612.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is longer than isoform a.
      Source sequence(s)
      AC122807, AK007346, BB619320, BY088355
      Consensus CDS
      CCDS22656.1
      UniProtKB/TrEMBL
      G3X8Q2
      Related
      ENSMUSP00000001722.8, ENSMUST00000001722.14
      Conserved Domains (2) summary
      COG1294
      Location:196 → 305
      AppB; Cytochrome bd-type quinol oxidase, subunit 2 [Energy production and conversion]
      TIGR01622
      Location:33 → 96
      SF-CC1; splicing factor, CC1-like family

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000074.7 Reference GRCm39 C57BL/6J

      Range
      110674541..110688837 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9D956.1 GenPept UniProtKB/Swiss-Prot:Q9D956

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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