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

Gene ID: 91862, updated on 22-Sep-2022

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 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

See MARVELD3 in Genome Data Viewer
Location:
16q22.2
Exon count:
5
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (71626184..71641965)
110 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 BRD4-independent group 4 enhancer GRCh37_chr16:71605697-71606896 Neighboring gene uncharacterized LOC105371334 Neighboring gene tyrosine aminotransferase 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

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

General gene information

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 
Component Evidence Code Pubs
is_active_in bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
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

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_001017967.4NP_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
    Q96A59, Q96MJ4
    Related
    ENSP00000268485.3, ENST00000268485.8
    Conserved Domains (1) summary
    PRK12678
    Location:18117
    PRK12678; transcription termination factor Rho; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

    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)