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

Gene ID: 91862, updated on 1-Jun-2020

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
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
Expression
Broad expression in small intestine (RPKM 6.8), colon (RPKM 6.5) and 18 other tissues See more
Orthologs

Genomic context

See MARVELD3 in Genome Data Viewer
Location:
16q22.2
Exon count:
5
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (71626180..71641965)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (71660056..71675868)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene FOXA and HNF1 motif-containing MPRA enhancers 32 and 166 Neighboring gene uncharacterized LOC105371334 Neighboring gene tyrosine aminotransferase Neighboring gene PH domain and leucine rich repeat protein phosphatase 2 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?

General gene information

Markers

Homology

Clone Names

  • FLJ32280

Gene Ontology Provided by GOA

Function Evidence Code Pubs
mitogen-activated protein kinase kinase kinase binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
bicellular tight junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-cell junction organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of JNK cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epithelial cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of epithelial cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of epithelial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein localization to cell junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to osmotic stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
bicellular tight junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
integral component of 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)

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
    Related
    ENSP00000268485.3, ENST00000268485.7
    Conserved Domains (1) summary
    PRK12678
    Location:18117
    PRK12678; transcription termination factor Rho; Provisional

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    71626180..71641965
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Conserved Domains (1) summary
    PRK12678
    Location:18117
    PRK12678; transcription termination factor Rho; Provisional
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