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    MARVELD3 MARVEL domain containing 3 [ Homo sapiens (human) ]

    Gene ID: 91862, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MARVELD3provided by HGNC
    Official Full Name
    MARVEL domain containing 3provided by HGNC
    Primary source
    HGNC:HGNC:30525
    See related
    Ensembl:ENSG00000140832 MIM:614094; AllianceGenome:HGNC:30525
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MARVD3; MRVLDC3
    Summary
    Enables mitogen-activated protein kinase kinase kinase binding activity. Involved in bicellular tight junction assembly. Acts upstream of or within several processes, including negative regulation of JNK cascade; negative regulation of epithelial cell migration; and protein localization to cell junction. Located in bicellular tight junction and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in small intestine (RPKM 6.8), colon (RPKM 6.5) and 18 other tissues See more
    Orthologs
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    Genomic context

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    See MARVELD3 in Genome Data Viewer
    Location:
    16q22.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (71626184..71641965)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77443349..77459129)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (71660087..71675868)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:71599339-71599870 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr16:71605697-71606896 Neighboring gene TAT antisense RNA 1 Neighboring gene uncharacterized LOC105371334 Neighboring gene tyrosine aminotransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7681 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7682 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr16:71671387-71671938 Neighboring gene uncharacterized LOC124903711 Neighboring gene PH domain and leucine rich repeat protein phosphatase 2 Neighboring gene Sharpr-MPRA regulatory region 2747 Neighboring gene uncharacterized LOC124903712 Neighboring gene RNA, U6 small nuclear 208, pseudogene Neighboring gene small nucleolar RNA, H/ACA box 70D

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. MARVELD3 inhibits the epithelial-mesenchymal transition and cell migration by suppressing the Wnt/β-catenin signaling pathway in non-small cell lung cancer cells. Li S, et al. Thorac Cancer, 2023 Apr. PMID 36924014, Free PMC Article
    2. Role of tight junction-associated MARVEL protein marvelD3 in migration and epithelial-mesenchymal transition of hepatocellular carcinoma. Li Y, et al. Cell Adh Migr, 2021 Dec. PMID 34338154, Free PMC Article
    3. In tight junctions, claudins regulate the interactions between occludin, tricellulin and marvelD3, which, inversely, modulate claudin oligomerization. Cording J, et al. J Cell Sci, 2013 Jan 15. PMID 23203797
    4. Downregulation of tight junction-associated MARVEL protein marvelD3 during epithelial-mesenchymal transition in human pancreatic cancer cells. Kojima T, et al. Exp Cell Res, 2011 Oct 1. PMID 21763689
    5. Genome-wide association study indicates two novel resistance loci for severe malaria. Timmann C, et al. Nature, 2012 Sep 20. PMID 22895189

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MARVELD3 inhibits the epithelial-mesenchymal transition and cell migration by suppressing the Wnt/beta-catenin signaling pathway in non-small cell lung cancer cells.
      Title: MARVELD3 inhibits the epithelial-mesenchymal transition and cell migration by suppressing the Wnt/β-catenin signaling pathway in non-small cell lung cancer cells.
    2. Role of tight junction-associated MARVEL protein marvelD3 in migration and epithelial-mesenchymal transition of hepatocellular carcinoma.
      Title: Role of tight junction-associated MARVEL protein marvelD3 in migration and epithelial-mesenchymal transition of hepatocellular carcinoma.
    3. MarvelD3 couples tight junctions to the MEKK1-JNK pathway to regulate cell behavior and survival.
      Title: MarvelD3 couples tight junctions to the MEKK1-JNK pathway to regulate cell behavior and survival.
    4. MarvelD3 is transcriptionally downregulated in Snail-induced epithelial-mesenchymal transition during the progression for the pancreatic cancer.
      Title: Downregulation of tight junction-associated MARVEL protein marvelD3 during epithelial-mesenchymal transition in human pancreatic cancer cells.
    5. 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.
    6. MarvelD3 co-localises with occludin at tight junctions in intestinal and corneal epithelial cells.
      Title: Identification of MarvelD3 as a tight junction-associated transmembrane protein of the occludin family.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study indicates two novel resistance loci for severe malaria.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ32280

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mitogen-activated protein kinase kinase kinase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in bicellular tight junction assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cell-cell junction organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of JNK cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of epithelial cell migration IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within negative regulation of epithelial cell proliferation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein localization to cell junction IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within response to osmotic stress IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in bicellular tight junction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasmic vesicle IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    MARVEL domain-containing protein 3
    Names
    MARVEL (membrane-associating) domain containing 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_001017967.4 → NP_001017967.2  MARVEL domain-containing protein 3 isoform 1

      See identical proteins and their annotated locations for NP_001017967.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longest isoform (1).
      Source sequence(s)
      AC009097
      Consensus CDS
      CCDS32478.1
      UniProtKB/Swiss-Prot
      Q96A59
      Related
      ENSP00000299952.4, ENST00000299952.4
      Conserved Domains (1) summary
      PRK12678
      Location:18 → 117
      PRK12678; transcription termination factor Rho; Provisional

    2. NM_001271329.2 → NP_001258258.1  MARVEL domain-containing protein 3 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in the 5' coding region which results in a frameshift compared to variant 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus compared to isoform 1. There is no support for the protein predicted to be encoded by this variant.
      Source sequence(s)
      AC009097
      Consensus CDS
      CCDS59270.1
      UniProtKB/Swiss-Prot
      Q96A59
      Related
      ENSP00000455845.1, ENST00000565261.1
      Conserved Domains (1) summary
      TIGR01622
      Location:21 → 120
      SF-CC1; splicing factor, CC1-like family

    3. NM_052858.6 → NP_443090.4  MARVEL domain-containing protein 3 isoform 2

      See identical proteins and their annotated locations for NP_443090.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) uses an alternate exon at its 3' terminus, compared to variant 1, which results in a protein (isoform 2) with a shorter and distinct C-terminus, compared to isoform 1. There is no support for the protein predicted to be encoded by this variant.
      Source sequence(s)
      AC009097
      Consensus CDS
      CCDS10904.1
      UniProtKB/Swiss-Prot
      A8K820, H3BQM5, Q96A59, Q96MJ4
      Related
      ENSP00000268485.3, ENST00000268485.8
      Conserved Domains (1) summary
      PRK12678
      Location:18 → 117
      PRK12678; transcription termination factor Rho; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      71626184..71641965
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011523449.4 → XP_011521751.1  MARVEL domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      J3KSM2
      Conserved Domains (1) summary
      PRK12678
      Location:18 → 117
      PRK12678; transcription termination factor Rho; Provisional

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      77443349..77459129
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054314337.1 → XP_054170312.1  MARVEL domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      J3KSM2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96A59.3 GenPept UniProtKB/Swiss-Prot:Q96A59

    Gene LinkOut

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

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