MARVELD1

Summary

MARVELD1 (MARVEL domain containing 1, HGNC:28674) is a protein-coding gene on chromosome 10q24.2, encoding MARVEL domain-containing protein 1 (Q9BSK0). Microtubule-associated protein that exhibits cell cycle-dependent localization and can inhibit cell proliferation and migration.

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.

Source: NCBI Gene 83742 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 28 total
• MANE Select transcript: NM_031484

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28674
Approved symbol	MARVELD1
Name	MARVEL domain containing 1
Location	10q24.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC4415, GB14, FLJ23440, FLJ22343, bA548K23.8
Ensembl gene	ENSG00000155254
Ensembl biotype	protein_coding
OMIM	616970
Entrez	83742

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 3 protein_coding_CDS_not_defined, 1 protein_coding

ENST00000285605, ENST00000421644, ENST00000434038, ENST00000451097

RefSeq mRNA: 1 — MANE Select: NM_031484 NM_031484

Canonical transcript exons

ENST00000285605 — 2 exons

Exon	Start	End
ENSE00001019942	97717194	97718150
ENSE00001019945	97713730	97715985

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 98.36.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.2301 / max 106.5696, expressed in 1646 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106457	13.1134	1603
106456	1.0919	786
106458	0.5148	325
106459	0.5100	289

Top tissues by expression

256 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	98.36	gold quality
saphenous vein	UBERON:0007318	98.32	gold quality
right coronary artery	UBERON:0001625	97.48	gold quality
popliteal artery	UBERON:0002250	97.31	gold quality
tibial artery	UBERON:0007610	97.30	gold quality
tendon of biceps brachii	UBERON:0008188	97.24	gold quality
aorta	UBERON:0000947	97.22	gold quality
stromal cell of endometrium	CL:0002255	97.18	gold quality
ascending aorta	UBERON:0001496	97.12	gold quality
thoracic aorta	UBERON:0001515	97.11	gold quality
urethra	UBERON:0000057	96.86	gold quality
descending thoracic aorta	UBERON:0002345	96.74	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.32	gold quality
coronary artery	UBERON:0001621	96.31	gold quality
superficial temporal artery	UBERON:0001614	96.30	gold quality
lower esophagus	UBERON:0013473	96.25	gold quality
left coronary artery	UBERON:0001626	96.16	gold quality
nipple	UBERON:0002030	96.11	gold quality
dorsal root ganglion	UBERON:0000044	95.97	gold quality
mucosa of stomach	UBERON:0001199	95.97	gold quality
layer of synovial tissue	UBERON:0007616	95.97	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	95.95	gold quality
smooth muscle tissue	UBERON:0001135	95.83	gold quality
seminal vesicle	UBERON:0000998	95.77	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.72	silver quality
myometrium	UBERON:0001296	95.64	gold quality
trigeminal ganglion	UBERON:0001675	95.64	gold quality
body of uterus	UBERON:0009853	95.48	gold quality
endocervix	UBERON:0000458	95.38	gold quality
vena cava	UBERON:0004087	95.23	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.19
E-MTAB-9689	no	234.52

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

79 targeting MARVELD1, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-515-5P	99.92	69.82	2343
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-3202	99.66	67.70	2737

Literature-anchored findings (GeneRIF, showing 9)

• MARVELD1 protein is located in nucleus instead of cell membrane in several different tumors, in males and in females. (PMID:19364627)
• 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. (PMID:22320884)
• 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. (PMID:23826386)
• MARVELD1 plays a role in pre-mRNA processing of integrin beta1. (PMID:24055813)
• MARVELD1 silencing is an appealing diagnostic biomarker for lung cancer. (PMID:25520033)
• Importin-beta1 mediates the non-classical nucleocytoplasmic transport of MARVELD1. (PMID:26107903)
• 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). (PMID:26509557)
• 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. (PMID:31066116)
• Up-regulation of MARVEL domain-containing protein 1 (MARVELD1) accelerated the malignant phenotype of glioma cancer cells via mediating JAK/STAT signaling pathway. (PMID:34008750)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	marveld1	ENSDARG00000011724
mus_musculus	Marveld1	ENSMUSG00000044345
rattus_norvegicus	Marveld1	ENSRNOG00000042620
caenorhabditis_elegans	F28H1.4	WBGENE00017909
caenorhabditis_elegans	F47B3.3	WBGENE00018527

Paralogs (14): CMTM1 (ENSG00000089505), CMTM6 (ENSG00000091317), PLP2 (ENSG00000102007), PLLP (ENSG00000102934), CMTM3 (ENSG00000140931), CMTM2 (ENSG00000140932), MALL (ENSG00000144063), MAL2 (ENSG00000147676), CMTM7 (ENSG00000153551), CMTM5 (ENSG00000166091), CMTM8 (ENSG00000170293), MAL (ENSG00000172005), CMTM4 (ENSG00000183723), CKLF (ENSG00000217555)

Protein

Protein identifiers

MARVEL domain-containing protein 1 — Q9BSK0 (reviewed: Q9BSK0)

All UniProt accessions (1): Q9BSK0

UniProt curated annotations — full annotation on UniProt →

Function. Microtubule-associated protein that exhibits cell cycle-dependent localization and can inhibit cell proliferation and migration.

Subcellular location. Cell membrane. Cytoplasm. Cytoskeleton. Nucleus.

Tissue specificity. Widely expressed in normal tissues. Down-regulated in multiple primary tumors.

Miscellaneous. Down-regulated in primary multiple tumors derived from ovary, vulva, uterus, cervix, breast, testis, kidney bladder and liver. The reduced expression is owing to DNA methylation and could be reversed by pharmacologic demethylation.

RefSeq proteins (1): NP_113672* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008253	Marvel	Domain
IPR050578	MARVEL-CKLF_proteins	Family

Pfam: PF01284

UniProt features (12 total): topological domain 5, transmembrane region 4, chain 1, domain 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9BSK0-F1	85.12	0.49

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 144 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, CEBPB_01, GTGCCTT_MIR506, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_ENSHEATHMENT_OF_NEURONS, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, LIU_PROSTATE_CANCER_DN, HATADA_METHYLATED_IN_LUNG_CANCER_UP, ICHIBA_GRAFT_VERSUS_HOST_DISEASE_35D_UP, FIGUEROA_AML_METHYLATION_CLUSTER_1_DN, FIGUEROA_AML_METHYLATION_CLUSTER_3_DN, FIGUEROA_AML_METHYLATION_CLUSTER_5_DN, FIGUEROA_AML_METHYLATION_CLUSTER_7_DN

GO Biological Process (1): myelination (GO:0042552)

GO Molecular Function (1): structural constituent of myelin sheath (GO:0019911)

GO Cellular Component (5): nucleus (GO:0005634), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), membrane (GO:0016020), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
axon ensheathment	1
structural molecule activity	1
myelin sheath	1
intracellular membrane-bounded organelle	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

460 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MARVELD1	LIPN	Q5VXI9	793
MARVELD1	MTRNR2L5	P0CJ72	770
MARVELD1	MTRNR2L4	P0CJ71	609
MARVELD1	CADM1	Q9BY67	580
MARVELD1	CD82	P27701	527
MARVELD1	QNG1	Q5T6V5	526
MARVELD1	GABBR1	Q9UBS5	517
MARVELD1	RPP25	Q9BUL9	472
MARVELD1	EIF3M	Q7L2H7	447
MARVELD1	MOB3C	Q70IA8	423
MARVELD1	PDZD4	Q76G19	414
MARVELD1	AVPI1	Q5T686	411
MARVELD1	KIF13B	Q9NQT8	408
MARVELD1	MYADML2	A6NDP7	405
MARVELD1	EIF3K	Q9UBQ5	390
MARVELD1	J3KSM2	J3KSM2	390

IntAct

9 interactions, top by confidence:

A	B	Type	Score
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A14	ESYT2	psi-mi:“MI:0914”(association)	0.350
CASP3	TMEM223	psi-mi:“MI:0914”(association)	0.350
CTNNA1	ILVBL	psi-mi:“MI:0914”(association)	0.350
ERBB2	DNM1L	psi-mi:“MI:0914”(association)	0.350
FOS	ILVBL	psi-mi:“MI:0914”(association)	0.350
MYC	AP3B1	psi-mi:“MI:0914”(association)	0.350
CEBPA	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (6): MARVELD1 (Two-hybrid), MARVELD1 (Affinity Capture-RNA), MARVELD1 (Affinity Capture-MS), MARVELD1 (Affinity Capture-MS), MARVELD1 (Affinity Capture-RNA), MARVELD1 (Affinity Capture-RNA)

ESM2 similar proteins: A0A087WTH1, A0A125YWU9, A0PK84, A6PVL3, C9JQL5, F1QHM7, F1QX91, O15503, O41933, O70418, O88728, P0DI73, P13164, P26376, Q01628, Q01629, Q08755, Q0II74, Q21642, Q32L65, Q3UNB8, Q3YBM2, Q5FVR1, Q5FWL7, Q5I0I2, Q5R8D6, Q5RF75, Q5Y5T3, Q6DHI1, Q76IC6, Q7M734, Q7TQJ1, Q8BGI3, Q8CES1, Q8CFA6, Q8IYP9, Q8N6L7, Q8WVZ1, Q91WU6, Q921C1

Diamond homologs: A3KQ86, A6H7B0, P47987, Q5BLB7, Q6GPN9, Q7TQJ1, Q9BSK0, Q9DCU2, Q9Y342

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

28 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	24
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

702 predictions. Top by Δscore:

Variant	Effect	Δscore
10:97714387:G:GT	donor_gain	1.0000
10:97714380:C:T	donor_gain	0.9800
10:97714264:GAT:G	donor_gain	0.9700
10:97714391:T:TA	donor_gain	0.9600
10:97714392:G:GA	donor_gain	0.9600
10:97717187:GTTGC:G	acceptor_loss	0.9600
10:97717188:TTGCA:T	acceptor_loss	0.9600
10:97717189:TGCA:T	acceptor_loss	0.9600
10:97717190:GCAG:G	acceptor_loss	0.9600
10:97717191:CA:C	acceptor_loss	0.9600
10:97717192:A:AT	acceptor_loss	0.9600
10:97717193:GGTT:G	acceptor_loss	0.9600
10:97714776:G:T	donor_gain	0.9500
10:97715822:G:C	acceptor_gain	0.9500
10:97714248:C:G	donor_gain	0.9400
10:97714777:G:T	donor_gain	0.9400
10:97714836:G:GT	donor_gain	0.9400
10:97715815:ATT:A	acceptor_gain	0.9400
10:97714737:C:G	donor_gain	0.9300
10:97714833:TCGG:T	donor_gain	0.9300
10:97715815:A:AG	acceptor_gain	0.9300
10:97714393:GC:G	donor_gain	0.9200
10:97714747:G:GT	donor_gain	0.9200
10:97714776:G:GT	donor_gain	0.9200
10:97714777:G:GT	donor_gain	0.9200
10:97714938:GA:G	donor_gain	0.9200
10:97715355:GA:G	donor_gain	0.9100
10:97715357:G:GG	donor_gain	0.9000
10:97715816:T:G	acceptor_gain	0.9000
10:97715404:GG:G	donor_gain	0.8900

AlphaMissense

1092 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:97714081:T:A	W69R	0.980
10:97714081:T:C	W69R	0.980
10:97714054:T:C	F60L	0.978
10:97714056:C:A	F60L	0.978
10:97714056:C:G	F60L	0.978
10:97714012:T:A	W46R	0.973
10:97714012:T:C	W46R	0.973
10:97714181:A:T	D102V	0.965
10:97714294:T:C	F140L	0.964
10:97714296:C:A	F140L	0.964
10:97714296:C:G	F140L	0.964
10:97714170:C:A	N98K	0.955
10:97714170:C:G	N98K	0.955
10:97714096:G:C	G74R	0.954
10:97714181:A:C	D102A	0.951
10:97714000:G:C	G42R	0.950
10:97714061:T:A	L62H	0.948
10:97714156:T:A	W94R	0.947
10:97714156:T:C	W94R	0.947
10:97714158:G:C	W94C	0.947
10:97714158:G:T	W94C	0.947
10:97714180:G:C	D102H	0.947
10:97714042:G:C	G56R	0.944
10:97713952:T:C	F26L	0.943
10:97713954:C:A	F26L	0.943
10:97713954:C:G	F26L	0.943
10:97714055:T:C	F60S	0.943
10:97714055:T:G	F60C	0.943
10:97714180:G:T	D102Y	0.942
10:97714182:T:A	D102E	0.941

dbSNP variants (sampled 300 via entrez): RS1000022448 (10:97714616 G>A,C), RS1000133608 (10:97712210 T>C), RS1001011036 (10:97718651 C>A), RS1001300637 (10:97711903 A>T), RS1001960775 (10:97717632 T>A,G), RS1002088041 (10:97715884 G>C,T), RS1002480742 (10:97716601 T>C), RS1002796566 (10:97712081 T>C), RS1002933826 (10:97711769 T>A), RS1003546418 (10:97717696 T>C), RS1004456427 (10:97718499 G>A,C), RS1004590525 (10:97718219 G>T), RS1005528138 (10:97716253 T>C), RS1006120057 (10:97714826 C>A), RS1006817793 (10:97718511 G>A)

Disease associations

OMIM: gene MIM:616970 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

39 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, increases methylation	8
Cadmium Chloride	increases expression, decreases expression	3
sodium arsenite	decreases expression, increases abundance	2
Cisplatin	affects cotreatment, increases expression, increases response to substance	2
Tobacco Smoke Pollution	decreases expression	2
aristolochic acid I	increases expression	1
betulin	decreases expression	1
bisphenol A	decreases methylation	1
dimethylselenide	decreases expression, increases expression, increases oxidation	1
cobaltous chloride	decreases expression	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
belinostat	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	affects cotreatment, increases expression	1
fatostatin	decreases expression, affects reaction	1
NSC 689534	affects binding, decreases expression	1
Gefitinib	decreases response to substance	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases reaction, increases cleavage, increases expression, decreases response to substance, decreases cleavage (+1 more)	1
Vorinostat	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Atrazine	increases expression	1
Copper	affects binding, decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Formaldehyde	increases expression	1
Lipopolysaccharides	affects cotreatment, decreases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.