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

Gene ID: 91862, updated on 3-Apr-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 negative regulation of epithelial cell proliferation. Located in bicellular tight junction and cytoplasmic vesicle. [provided by Alliance of Genome Resources, Apr 2022]
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_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (71626184..71641965)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (77443349..77459129)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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 (17) 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)

Genotypes

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 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in bicellular tight junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
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 
involved_in negative regulation of epithelial cell migration IBA
Inferred from Biological aspect of Ancestor
more info
  
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 
involved_in protein ubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within response to osmotic stress IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in ubiquitin-dependent protein catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
  
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
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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

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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