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

    Gene ID: 91862, updated on 3-Dec-2024

    Summary

    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, Nov 2024]
    Expression
    Broad expression in small intestine (RPKM 6.8), colon (RPKM 6.5) and 18 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ32280

    General protein information

    Preferred Names
    MARVEL domain-containing protein 3
    Names
    MARVEL (membrane-associating) domain containing 3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001017967.4NP_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:18117
      PRK12678; transcription termination factor Rho; Provisional
    2. NM_001271329.2NP_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:21120
      SF-CC1; splicing factor, CC1-like family
    3. NM_052858.6NP_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:18117
      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_011523449.4XP_011521751.1  MARVEL domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      J3KSM2
      Conserved Domains (1) summary
      PRK12678
      Location:18117
      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_054314337.1XP_054170312.1  MARVEL domain-containing protein 3 isoform X1

      UniProtKB/TrEMBL
      J3KSM2