MARVELD1 MARVEL domain containing 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MARVELD1provided by HGNC
Official Full Name: MARVEL domain containing 1provided by HGNC
Primary source: HGNC:HGNC:28674
See related: Ensembl:ENSG00000155254 MIM:616970; AllianceGenome:HGNC:28674
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: GB14; MARVD1; MRVLDC1; bA548K23.8
Summary: Predicted to be a structural constituent of myelin sheath. Predicted to be involved in myelination. Predicted to be located in several cellular components, including cytoskeleton; nucleus; and plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in endometrium (RPKM 25.0), ovary (RPKM 20.1) and 23 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q24.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (97713730..97718150)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (98593890..98598310)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (99473487..99477907)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Up-regulation of MARVEL domain-containing protein 1 (MARVELD1) accelerated the malignant phenotype of glioma cancer cells via mediating JAK/STAT signaling pathway.
Title: Up-regulation of MARVEL domain-containing protein 1 (MARVELD1) accelerated the malignant phenotype of glioma cancer cells via mediating JAK/STAT signaling pathway.
MARVELD1 may regulate tumor cell proliferation and sensitivity to chemotherapeutic drugs via reducing the exorbitant reactive oxygen species. The mechanism was that MARVELD1 interacted with catalase to maintain latter stability, and then ensure continuous reactive oxygen species scavenge.
Title: MARVELD1 interacting with catalase regulates reactive oxygen species metabolism and mediates the sensitivity to chemotherapeutic drugs in epithelial tumors of the reproductive system.
MARVELD1 substantially inhibits nonsense-mediated RNA decay by decreasing the pioneer round of translation but not steady-state translation, and is an important component of the molecular machinery containing UPF1 and Y14. MARVELD1 promotes the dissociation of SMG1 from UPF1, resulting in the repression of serine phosphorylation of UPF1, and subsequently blocks the recruitment of SMG5.
Title: MARVELD1 Inhibits Nonsense-Mediated RNA Decay by Repressing Serine Phosphorylation of UPF1.
Study demonstrates that MARVELD1-mediated balance of integrin beta1 and beta4 regulates cell surface ultrastructure and epithelial-mesenchymal transition phenotype of non-small cell lung cancer (NSCLC).
Title: MARVELD1 modulates cell surface morphology and suppresses epithelial-mesenchymal transition in non-small cell lung cancer.
MARVELD1 silencing is an appealing diagnostic biomarker for lung cancer.
Title: Biological and clinical significance of epigenetic silencing of MARVELD1 gene in lung cancer.
Importin-beta1 mediates the non-classical nucleocytoplasmic transport of MARVELD1.
Title: [Importin-β1 plays a key role in the nucleocytoplasmic transportation process of MARVELD1].
MARVELD1 plays a role in pre-mRNA processing of integrin beta1.
Title: MARVELD1 regulates integrin β1-mediated cell adhesion and actin organization via inhibiting its pre-mRNA processing.
Our findings suggest that MARVELD1 is a tumor suppressor by negatively regulating proliferation, tumor growth and chemosensitivity of HCC cells via increasing p53 and p16 in vitro and in vivo.
Title: MARVELD1 inhibited cell proliferation and enhance chemosensitivity via increasing expression of p53 and p16 in hepatocellular carcinoma.
MARVELD1 protein is located in nucleus instead of cell membrane in several different tumors, in males and in females.
Title: Identification and characterization of MARVELD1, a novel nuclear protein that is down-regulated in multiple cancers and silenced by DNA methylation.

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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

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

RH64896 (e-PCR)
- UniSTS:813

RH17810 (e-PCR)
- UniSTS:6047

RH25179 (e-PCR)
- UniSTS:86690

D10S1320E (e-PCR)
- UniSTS:25001

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables structural constituent of myelin sheath	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in myelination	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
is_active_in membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: MARVEL domain-containing protein 1

Names: MARVEL (membrane-associating) domain containing 1; occludin; putative MARVEL domain-containing protein 1

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.