MON1B

Summary

MON1B (MON1 vesicular trafficking associated B, HGNC:25020) is a protein-coding gene on chromosome 16q23.1, encoding Vacuolar fusion protein MON1 homolog B (Q7L1V2).

Involved in early viral transcription and late viral transcription. Located in cytoplasm. Part of Mon1-Ccz1 complex.

Source: NCBI Gene 22879 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 106 total
• MANE Select transcript: NM_014940

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25020
Approved symbol	MON1B
Name	MON1 vesicular trafficking associated B
Location	16q23.1
Locus type	gene with protein product
Status	Approved
Aliases	SAND2, HSRG1, KIAA0872
Ensembl gene	ENSG00000103111
Ensembl biotype	protein_coding
OMIM	608954
Entrez	22879

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000248248, ENST00000439557, ENST00000545553, ENST00000563279, ENST00000563612, ENST00000564006, ENST00000566455, ENST00000566963, ENST00000567291, ENST00000569610

RefSeq mRNA: 3 — MANE Select: NM_014940 NM_001286639, NM_001286640, NM_014940

CCDS: CCDS10925, CCDS67082, CCDS67083

Canonical transcript exons

ENST00000248248 — 6 exons

Exon	Start	End
ENSE00000694956	77194335	77195154
ENSE00000874920	77193451	77193777
ENSE00001349059	77198108	77202398
ENSE00002598438	77191190	77191258
ENSE00003489076	77195535	77195682
ENSE00003626624	77191476	77191633

Expression profiles

Bgee: expression breadth ubiquitous, 267 present calls, max score 95.70.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.6841 / max 272.2934, expressed in 1816 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
155062	15.8439	1806
155060	9.2186	1786
155061	1.6217	947

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
palpebral conjunctiva	UBERON:0001812	95.70	gold quality
parietal pleura	UBERON:0002400	95.40	gold quality
visceral pleura	UBERON:0002401	94.89	gold quality
epithelium of nasopharynx	UBERON:0001951	94.76	gold quality
medial globus pallidus	UBERON:0002477	93.77	gold quality
eye	UBERON:0000970	93.74	gold quality
globus pallidus	UBERON:0001875	93.47	gold quality
pleura	UBERON:0000977	93.38	gold quality
germinal epithelium of ovary	UBERON:0001304	93.34	gold quality
Brodmann (1909) area 23	UBERON:0013554	92.62	gold quality
gingival epithelium	UBERON:0001949	92.28	gold quality
blood	UBERON:0000178	91.67	gold quality
middle temporal gyrus	UBERON:0002771	91.60	gold quality
inferior vagus X ganglion	UBERON:0005363	91.60	gold quality
lateral globus pallidus	UBERON:0002476	91.54	gold quality
esophagus squamous epithelium	UBERON:0006920	91.39	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.35	gold quality
colonic mucosa	UBERON:0000317	90.87	gold quality
granulocyte	CL:0000094	90.66	gold quality
gingiva	UBERON:0001828	90.65	gold quality
amniotic fluid	UBERON:0000173	90.50	gold quality
monocyte	CL:0000576	90.45	gold quality
leukocyte	CL:0000738	90.36	gold quality
mononuclear cell	CL:0000842	90.30	gold quality
subthalamic nucleus	UBERON:0001906	90.09	gold quality
endothelial cell	CL:0000115	90.04	gold quality
corpus epididymis	UBERON:0004359	89.53	gold quality
lower lobe of lung	UBERON:0008949	89.23	gold quality
pons	UBERON:0000988	89.16	gold quality
prostate gland	UBERON:0002367	89.13	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.75

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

59 targeting MON1B, 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-7110-3P	100.00	73.18	2486
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-23B-5P	99.98	66.07	587
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-23A-5P	99.94	65.39	468
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-1976	99.74	65.48	1127
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-185-5P	99.35	68.60	2497
HSA-MIR-4644	99.35	69.12	2514
HSA-MIR-6797-3P	99.17	66.94	668
HSA-MIR-4999-3P	99.11	65.55	424

Literature-anchored findings (GeneRIF, showing 3)

• Identification of HSV-1 stimulation-related gene 1, a novel sand family protein, induced by herpes simplex virus 1 binding. (HSV-1 stimulation-related gene 1 (HSRG1) (PMID:12828340)
• HSRG1 interacts with SV40 large T antigen (LT) in yeast two-hybrid assay (PMID:17109635)
• Numb binds to another docking regulator, Mon1b, and is required for the recruitment of cytosolic Mon1b to the early endosomes membrane. (PMID:26987402)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	mon1ba	ENSDARG00000035686
danio_rerio	mon1bb	ENSDARG00000077434
mus_musculus	Mon1b	ENSMUSG00000078908
rattus_norvegicus	Mon1b	ENSRNOG00000084202
drosophila_melanogaster	Mon1	FBGN0031640
caenorhabditis_elegans		WBGENE00018321

Paralogs (1): MON1A (ENSG00000164077)

Protein

Protein identifiers

Vacuolar fusion protein MON1 homolog B — Q7L1V2 (reviewed: Q7L1V2)

Alternative names: HSV-1 stimulation-related gene 1 protein, HSV-I stimulating-related protein

All UniProt accessions (7): Q7L1V2, E7EW32, H3BPL8, H3BQ73, H3BR21, H3BU99, H3BUX9

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Interacts with CCNT2; down-regulates CCNT2-mediated activation of viral promoters during herpes simplex virus 1/HHV-1 infection. Found in a complex with RMC1, CCZ1 MON1A and MON1B.

Induction. Induced in fibroblast KMB17 cells by HSV-1.

Similarity. Belongs to the MON1/SAND family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q7L1V2-1	1	yes
Q7L1V2-2	2

RefSeq proteins (3): NP_001273568, NP_001273569, NP_055755* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004353	Mon1	Family
IPR043970	FUZ/MON1/HPS1_longin_3	Domain
IPR043971	FUZ/MON1/HPS1_longin_2	Domain
IPR043972	FUZ/MON1/HPS1_longin_1	Domain

Pfam: PF19036, PF19037, PF19038

UniProt features (8 total): modified residue 3, splice variant 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q7L1V2-F1	78.95	0.60

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 (3): 1, 59, 61

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-8876198	RAB GEFs exchange GTP for GDP on RABs
R-HSA-199991	Membrane Trafficking
R-HSA-5653656	Vesicle-mediated transport
R-HSA-9007101	Rab regulation of trafficking

MSigDB gene sets: 109 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_PROTEIN_TARGETING, GOBP_VACUOLAR_TRANSPORT, GOBP_VESICLE_MEDIATED_TRANSPORT, REACTOME_MEMBRANE_TRAFFICKING, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_ORGANELLE, GOBP_PROTEIN_LOCALIZATION_TO_VACUOLE, APPIERTO_RESPONSE_TO_FENRETINIDE_DN, GOBP_ESTABLISHMENT_OF_PROTEIN_LOCALIZATION_TO_VACUOLE, GOBP_PROTEIN_LOCALIZATION_TO_ORGANELLE, NRF2_01, CETS1P54_01, SENESE_HDAC3_TARGETS_DN

GO Biological Process (4): protein targeting to vacuole (GO:0006623), vesicle-mediated transport (GO:0016192), early viral transcription (GO:0019085), late viral transcription (GO:0019086)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (2): cytoplasm (GO:0005737), Mon1-Ccz1 complex (GO:0035658)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Rab regulation of trafficking	1
Vesicle-mediated transport	1
Membrane Trafficking	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
viral transcription	2
protein targeting	1
intracellular protein transport	1
vacuolar transport	1
protein localization to vacuole	1
establishment of protein localization to vacuole	1
transport	1
cellular process	1
binding	1
intracellular anatomical structure	1
cellular anatomical structure	1
late endosome	1
guanyl-nucleotide exchange factor complex	1

Protein interactions and networks

STRING

1044 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MON1B	CCZ1B	P86790	932
MON1B	RAB5A	P20339	723
MON1B	VPS11	Q9H270	661
MON1B	GAPVD1	Q14C86	628
MON1B	EEA1	Q15075	562
MON1B	RABIF	P47224	561
MON1B	UVRAG	Q9P2Y5	549
MON1B	APPL1	Q9UKG1	548
MON1B	TBC1D15	Q8TC07	530
MON1B	GLB1L3	Q8NCI6	517
MON1B	ALS2	Q96Q42	497
MON1B	SLC40A1	Q9NP59	496
MON1B	SYCE1L	A8MT33	480
MON1B	FYCO1	Q9BQS8	466
MON1B	RABEP1	Q15276	447

IntAct

36 interactions, top by confidence:

A	B	Type	Score
RMC1	CCZ1	psi-mi:“MI:0914”(association)	0.600
RAB7A	CCZ1	psi-mi:“MI:0914”(association)	0.590
KCTD17	CBX4	psi-mi:“MI:0914”(association)	0.530
PLEKHN1	ELP1	psi-mi:“MI:0914”(association)	0.530
PSME1	POLR3A	psi-mi:“MI:0914”(association)	0.530
VPS18	MON1B	psi-mi:“MI:0915”(physical association)	0.510
rabx-5	MON1B	psi-mi:“MI:0915”(physical association)	0.400
MON1B	VPS16	psi-mi:“MI:0915”(physical association)	0.400
VPS33A	MON1B	psi-mi:“MI:0915”(physical association)	0.400
MON1B	VPS41	psi-mi:“MI:0915”(physical association)	0.400
CDC42EP3	MON1B	psi-mi:“MI:0915”(physical association)	0.400
MON1B	ccz-1	psi-mi:“MI:0915”(physical association)	0.370
MON1B	VPS11	psi-mi:“MI:0915”(physical association)	0.370
KIF16B	SPAG9	psi-mi:“MI:0914”(association)	0.350
FYCO1	SEC24B	psi-mi:“MI:0914”(association)	0.350
RMC1	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
RMC1	ARID1A	psi-mi:“MI:0914”(association)	0.350
MON1B	CCZ1	psi-mi:“MI:0914”(association)	0.350
CCZ1	MON1B	psi-mi:“MI:0914”(association)	0.350
CCZ1B	PRPF40A	psi-mi:“MI:0914”(association)	0.350
PLAAT4	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
CCL3	KRBA1	psi-mi:“MI:0914”(association)	0.350
STRIP2	SUPT5H	psi-mi:“MI:0914”(association)	0.350
RNF181	CHEK1	psi-mi:“MI:0914”(association)	0.350
KIF16B	HSPA8	psi-mi:“MI:0914”(association)	0.350

BioGRID (25): MON1B (Affinity Capture-MS), RAB7A (Co-localization), MON1B (Affinity Capture-MS), MON1B (Affinity Capture-MS), MON1B (Affinity Capture-Western), MON1B (Affinity Capture-RNA), MON1B (Affinity Capture-MS), MON1B (Affinity Capture-MS), MON1B (Affinity Capture-MS), MON1B (Affinity Capture-MS), MON1B (Affinity Capture-MS), MON1B (Affinity Capture-MS), MON1B (Affinity Capture-RNA), MON1B (Affinity Capture-MS), MON1B (Affinity Capture-MS)

ESM2 similar proteins: A1A4L8, A1A4Q9, A1L134, A2BDX3, A5YM72, A6H707, B0BLZ5, B0JZP3, G3MZR2, O43292, O60831, O89109, P70295, Q11130, Q2TBP5, Q2V8X7, Q32NY4, Q3UPE3, Q4R4E4, Q4R4I9, Q5XIE1, Q5ZIW1, Q66HR0, Q6IQX7, Q6NRK8, Q6P2H8, Q7L1V2, Q80ZW2, Q86VU5, Q8IZ52, Q8N3Y3, Q8NE01, Q8NF37, Q8NI29, Q8TAC2, Q8TCD5, Q8TD43, Q8WUY1, Q92839, Q96DE0

Diamond homologs: A1CEH4, P0CO82, P0CO83, P53129, Q0CJY1, Q0U822, Q10150, Q17QV2, Q1E8Q5, Q2HFQ4, Q2ULR1, Q4I6S5, Q4R4E4, Q4WHL1, Q5BBI7, Q5ZIH2, Q6CCU8, Q6FU19, Q6PDG8, Q75EA2, Q7L1V2, Q86VX9, Q870Q4, Q8BMQ8, Q95KG9, Q9VR38, Q9YGN1, Q4PA36, Q5JL08, Q9SKN1

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
MON1B	“form complex”	“MON1-CCZ1 guanyl-nucleotide exchange factor complex, MON1B variant”	binding
MON1B	“form complex”	“MON1-CCZ1B guanyl-nucleotide exchange factor complex, MON1B variant”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 41 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO term	Partners	Fold	FDR
endosomal vesicle fusion	5	160.5×	1e-08
endosome to lysosome transport	6	57.8×	7e-08
vesicle-mediated transport	6	16.5×	1e-04
intracellular protein transport	5	9.3×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	89
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1290 predictions. Top by Δscore:

Variant	Effect	Δscore
16:77191131:G:GT	donor_gain	1.0000
16:77191189:G:GT	donor_gain	1.0000
16:77191216:G:GT	donor_gain	1.0000
16:77191216:G:T	donor_gain	1.0000
16:77191631:CAGG:C	donor_loss	1.0000
16:77191633:GGTA:G	donor_loss	1.0000
16:77191634:G:C	donor_loss	1.0000
16:77191635:T:G	donor_loss	1.0000
16:77194333:A:AG	acceptor_gain	1.0000
16:77194334:G:GG	acceptor_gain	1.0000
16:77194334:GA:G	acceptor_gain	1.0000
16:77195151:CCAGG:C	donor_loss	1.0000
16:77195152:CAGGT:C	donor_loss	1.0000
16:77195154:GGTA:G	donor_loss	1.0000
16:77195155:G:C	donor_loss	1.0000
16:77195156:T:A	donor_loss	1.0000
16:77195525:A:AG	acceptor_gain	1.0000
16:77195525:ATCAT:A	acceptor_gain	1.0000
16:77195526:T:G	acceptor_gain	1.0000
16:77195528:A:AG	acceptor_gain	1.0000
16:77195528:AT:A	acceptor_gain	1.0000
16:77195528:ATG:A	acceptor_gain	1.0000
16:77195529:T:G	acceptor_gain	1.0000
16:77195529:T:TA	acceptor_gain	1.0000
16:77195531:GCA:G	acceptor_loss	1.0000
16:77195533:A:AG	acceptor_gain	1.0000
16:77195534:G:GC	acceptor_gain	1.0000
16:77195534:GCC:G	acceptor_gain	1.0000
16:77195534:GCCC:G	acceptor_gain	1.0000
16:77195534:GCCCT:G	acceptor_gain	1.0000

AlphaMissense

3474 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:77198120:T:C	F486L	0.999
16:77198122:C:A	F486L	0.999
16:77198122:C:G	F486L	0.999
16:77193667:T:A	I122N	0.998
16:77194353:T:C	F165S	0.998
16:77194937:T:C	F360L	0.998
16:77194939:C:A	F360L	0.998
16:77194939:C:G	F360L	0.998
16:77195107:G:C	K416N	0.998
16:77195107:G:T	K416N	0.998
16:77198223:T:C	F520S	0.998
16:77193648:A:C	S116R	0.997
16:77193649:G:T	S116I	0.997
16:77193650:T:A	S116R	0.997
16:77193650:T:G	S116R	0.997
16:77193658:G:T	G119V	0.997
16:77194352:T:C	F165L	0.997
16:77194354:C:A	F165L	0.997
16:77194354:C:G	F165L	0.997
16:77194428:T:C	L190P	0.997
16:77194509:A:G	D217G	0.997
16:77194823:T:A	W322R	0.997
16:77194823:T:C	W322R	0.997
16:77194837:C:G	C326W	0.997
16:77195096:T:C	F413L	0.997
16:77195097:T:C	F413S	0.997
16:77195098:C:A	F413L	0.997
16:77195098:C:G	F413L	0.997
16:77195102:T:G	Y415D	0.997
16:77195678:C:A	A480D	0.997

dbSNP variants (sampled 300 via entrez): RS1000183280 (16:77201838 G>A), RS1000393159 (16:77197799 G>T), RS1000427595 (16:77202126 G>A), RS1000526196 (16:77200631 C>G), RS1000723677 (16:77200422 A>C), RS1000767676 (16:77197590 A>G), RS1001071007 (16:77196602 C>G), RS1001121038 (16:77199112 G>T), RS1001139738 (16:77189947 G>A), RS1001373490 (16:77198570 C>T), RS1002469312 (16:77195456 C>A,T), RS1002763653 (16:77199392 C>A,T), RS1002820838 (16:77196605 G>A), RS1002914242 (16:77196398 G>A,T), RS1003340977 (16:77200253 T>A)

Disease associations

OMIM: gene MIM:608954 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002441_2	Immune response to measles-mumps-rubella vaccine	4.000000e-07
GCST007326_44	Number of sexual partners	1.000000e-09
GCST007355_2	Antidepressant treatment resistance (> 2 drugs prescribed)	4.000000e-07
GCST008512_35	Multisite chronic pain	2.000000e-08
GCST009391_1090	Metabolite levels	6.000000e-06
GCST012332_2	Multisite chronic pain	9.000000e-09

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004645	response to vaccine
EFO:0010100	multisite chronic pain
EFO:0010543	uridine diphosphate galactose measurement
EFO:0010544	uridine diphosphate glucose measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

20 total (human), top 20 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases methylation, affects expression, increases expression	3
sodium arsenite	increases expression, decreases expression	2
FR900359	increases phosphorylation	1
coumarin	increases phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
Air Pollutants	affects expression, increases abundance	1
Caffeine	increases phosphorylation	1
Diazinon	increases methylation	1
Ivermectin	decreases expression	1
Ozone	affects expression, increases abundance	1
Selenium	increases expression	1
Smoke	decreases expression	1
Dihydrotestosterone	increases expression	1
Theophylline	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	increases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	decreases expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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