MUSTN1

Summary

MUSTN1 (musculoskeletal, embryonic nuclear protein 1, HGNC:22144) is a protein-coding gene on chromosome 3p21.1, encoding Musculoskeletal embryonic nuclear protein 1 (Q8IVN3). Required for chondrocyte development and proliferation.

Predicted to be involved in glucose homeostasis and positive regulation of myoblast differentiation. Predicted to act upstream of or within positive regulation of chondrocyte differentiation; positive regulation of chondrocyte proliferation; and positive regulation of macromolecule biosynthetic process. Predicted to be located in nucleus.

Source: NCBI Gene 389125 — RefSeq curated summary.

At a glance

• GWAS associations: 11
• Clinical variants (ClinVar): 3 total
• MANE Select transcript: NM_205853

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:22144
Approved symbol	MUSTN1
Name	musculoskeletal, embryonic nuclear protein 1
Location	3p21.1
Locus type	gene with protein product
Status	Approved
Aliases	Mustang
Ensembl gene	ENSG00000272573
Ensembl biotype	protein_coding
OMIM	617195
Entrez	389125

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000446157, ENST00000486659, ENST00000955825

RefSeq mRNA: 1 — MANE Select: NM_205853 NM_205853

CCDS: CCDS46846

Canonical transcript exons

ENST00000446157 — 3 exons

Exon	Start	End
ENSE00001265465	52833121	52833430
ENSE00001692368	52834940	52835019
ENSE00003704228	52833617	52833749

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 99.70.

FANTOM5 (CAGE): breadth broad, TPM avg 10.5460 / max 2092.5381, expressed in 375 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
42483	8.9130	362
42484	1.0060	169
202769	0.5862	46
202770	0.0225	10
202771	0.0183	6

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
popliteal artery	UBERON:0002250	99.70	gold quality
tibial artery	UBERON:0007610	99.70	gold quality
right coronary artery	UBERON:0001625	99.64	gold quality
left coronary artery	UBERON:0001626	99.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	99.44	gold quality
gastrocnemius	UBERON:0001388	99.30	gold quality
skeletal muscle tissue	UBERON:0001134	98.83	gold quality
muscle of leg	UBERON:0001383	98.79	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	97.71	gold quality
right atrium auricular region	UBERON:0006631	97.43	gold quality
apex of heart	UBERON:0002098	97.11	gold quality
muscle tissue	UBERON:0002385	95.67	gold quality
endocervix	UBERON:0000458	95.54	gold quality
tibial nerve	UBERON:0001323	95.51	gold quality
descending thoracic aorta	UBERON:0002345	95.33	gold quality
heart left ventricle	UBERON:0002084	95.24	gold quality
heart	UBERON:0000948	94.97	gold quality
thoracic aorta	UBERON:0001515	94.87	gold quality
left uterine tube	UBERON:0001303	94.76	gold quality
ascending aorta	UBERON:0001496	94.67	gold quality
subcutaneous adipose tissue	UBERON:0002190	94.24	gold quality
fundus of stomach	UBERON:0001160	93.80	gold quality
putamen	UBERON:0001874	93.73	gold quality
body of uterus	UBERON:0009853	93.37	gold quality
adipose tissue	UBERON:0001013	93.25	gold quality
gall bladder	UBERON:0002110	93.12	gold quality
substantia nigra	UBERON:0002038	92.99	gold quality
fallopian tube	UBERON:0003889	92.95	gold quality
mucosa of stomach	UBERON:0001199	92.74	gold quality
ectocervix	UBERON:0012249	92.51	gold quality

Single-cell (SCXA)

Detected in 11 experiment(s), a significant marker in 11.

Experiment	Marker?	Max mean expression
E-HCAD-11	yes	2964.25
E-MTAB-10885	yes	2089.65
E-CURD-126	yes	1615.96
E-HCAD-38	yes	1200.09
E-MTAB-10287	yes	1034.18
E-HCAD-1	yes	30.55
E-MTAB-8410	yes	28.28
E-MTAB-9388	yes	11.88
E-CURD-46	yes	11.24
E-GEOD-134144	yes	9.97
E-ANND-3	yes	5.08

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYOD1, MYOG

miRNA regulators (miRDB)

11 targeting MUSTN1, 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-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-7112-5P	99.59	65.76	104
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-877-3P	99.09	68.10	1637
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-2115-5P	98.66	68.07	1191
HSA-MIR-4799-3P	97.78	65.97	893
HSA-MIR-4720-5P	97.46	65.67	893
HSA-MIR-5588-5P	97.46	65.70	913

Literature-anchored findings (GeneRIF, showing 1)

• CSRP3, MUSTN1, SIX1, and FBXO32 expression changes in response to lengthening and shortening contractions in human muscle (PMID:17519359)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mustn1a	ENSDARG00000054026
danio_rerio	mustn1b	ENSDARG00000089086
mus_musculus	Mustn1	ENSMUSG00000042485
rattus_norvegicus	Mustn1	ENSRNOG00000017369

Paralogs (1): STIMATE (ENSG00000213533)

Protein

Protein identifiers

Musculoskeletal embryonic nuclear protein 1 — Q8IVN3 (reviewed: Q8IVN3)

All UniProt accessions (2): C9JYJ2, Q8IVN3

UniProt curated annotations — full annotation on UniProt →

Function. Required for chondrocyte development and proliferation. Plays a role in myoblast differentiation and fusion. Modulates skeletal muscle extracellular matrix composition. Plays a role in skeletal muscle function. Plays a role in glucose homeostasis.

Subcellular location. Nucleus. Cytoplasm. Secreted. Extracellular space.

Tissue specificity. Expression in skeletal muscle is reduced during limb unloading but increases during the active recovery phase that follows.

Similarity. Belongs to the MUSTN1 family.

RefSeq proteins (1): NP_995325* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR031394	MUSTN1	Family

Pfam: PF15682

UniProt features (6 total): region of interest 2, chain 1, short sequence motif 1, modified residue 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IVN3-F1	71.32	0.02

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): 2

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 109 (showing top): GOBP_CARTILAGE_DEVELOPMENT, GOBP_SKELETAL_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CARTILAGE_DEVELOPMENT, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_GROWTH, GOBP_REGENERATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_REGULATION_OF_MYOBLAST_DIFFERENTIATION, GOBP_REGULATION_OF_GLYCOPROTEIN_METABOLIC_PROCESS, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_POSITIVE_REGULATION_OF_CELL_DIFFERENTIATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_CHONDROCYTE_DIFFERENTIATION, INGRAM_SHH_TARGETS_UP

GO Biological Process (12): chondrocyte differentiation (GO:0002062), muscle organ development (GO:0007517), positive regulation of gene expression (GO:0010628), embryonic limb morphogenesis (GO:0030326), positive regulation of chondrocyte differentiation (GO:0032332), chondrocyte proliferation (GO:0035988), tissue regeneration (GO:0042246), glucose homeostasis (GO:0042593), positive regulation of myoblast differentiation (GO:0045663), positive regulation of proteoglycan biosynthetic process (GO:1902730), positive regulation of chondrocyte proliferation (GO:1902732), cartilage development (GO:0051216)

GO Molecular Function (0):

GO Cellular Component (4): extracellular region (GO:0005576), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
animal organ development	2
positive regulation of cell differentiation	2
cell differentiation	1
cartilage development	1
muscle structure development	1
gene expression	1
regulation of gene expression	1
positive regulation of macromolecule biosynthetic process	1
limb morphogenesis	1
embryonic appendage morphogenesis	1
chondrocyte differentiation	1
regulation of chondrocyte differentiation	1
positive regulation of cartilage development	1
cell population proliferation	1
regeneration	1
developmental growth	1
carbohydrate homeostasis	1
myoblast differentiation	1
regulation of myoblast differentiation	1
positive regulation of glycoprotein biosynthetic process	1
proteoglycan biosynthetic process	1
positive regulation of cell population proliferation	1
chondrocyte proliferation	1
skeletal system development	1
connective tissue development	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1134 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MUSTN1	LNX1	Q8TBB1	433
MUSTN1	TNMD	Q9H2S6	427
MUSTN1	MAP3K7CL	P57077	425
MUSTN1	STIMATE	Q86TL2	420
MUSTN1	CSRP3	P50461	389
MUSTN1	LMOD2	Q6P5Q4	389
MUSTN1	TGFB1I1	O43294	378
MUSTN1	MYBPC1	Q00872	373
MUSTN1	NT5DC2	Q9H857	370
MUSTN1	GLT8D1	Q68CQ7	360
MUSTN1	KERA	O60938	357
MUSTN1	A0A0B4J1T7	A0A0B4J1T7	352
MUSTN1	SMPX	Q9UHP9	348
MUSTN1	SPINK14	Q6IE38	343
MUSTN1	RASL11A	Q6T310	325

IntAct

0 interactions, top by confidence:

BioGRID (1): MUSTN1 (Reconstituted Complex)

ESM2 similar proteins: A0A024R1R8, A1A4Q4, A2R091, A3GHR2, A3N0X3, A5DF06, A5DT59, A6R5Z3, A6S6B0, A7F9B8, A8GLI7, B0BPQ7, B3GXV7, H3BMG3, O31573, P47915, P95508, Q05AK9, Q05AX4, Q06DK3, Q0CGL5, Q13442, Q1DI23, Q1HRV4, Q20588, Q28GR1, Q32KU9, Q32LJ0, Q3E764, Q3UHX2, Q4P9Y9, Q4SUE2, Q55F75, Q59TU0, Q60QR6, Q62785, Q6BLV1, Q6C2F3, Q6P8I4, Q76MS9

Diamond homologs: Q05AX4, Q32KU9, Q76MS9, Q80XX4, Q8IVN3, Q99JI1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	3
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

428 predictions. Top by Δscore:

Variant	Effect	Δscore
3:52833615:A:AC	donor_gain	1.0000
3:52833615:A:AG	donor_loss	1.0000
3:52833616:C:CC	donor_gain	1.0000
3:52833616:C:CG	donor_loss	1.0000
3:52833616:CCA:C	donor_gain	1.0000
3:52833616:CCACA:C	donor_gain	1.0000
3:52833746:CAGC:C	acceptor_gain	1.0000
3:52833749:CCT:C	acceptor_gain	1.0000
3:52833751:T:C	acceptor_gain	1.0000
3:52833265:T:A	donor_gain	0.9900
3:52833278:T:TA	donor_gain	0.9900
3:52833322:T:TA	donor_gain	0.9900
3:52833426:TTGCT:T	acceptor_gain	0.9900
3:52833427:TGCT:T	acceptor_gain	0.9900
3:52833429:CT:C	acceptor_gain	0.9900
3:52833431:C:CC	acceptor_gain	0.9900
3:52833610:CACT:C	donor_loss	0.9900
3:52833613:TCAC:T	donor_gain	0.9900
3:52833614:CACC:C	donor_gain	0.9900
3:52833615:AC:A	donor_gain	0.9900
3:52833615:ACCA:A	donor_gain	0.9900
3:52833616:CC:C	donor_gain	0.9900
3:52833616:CCAC:C	donor_gain	0.9900
3:52833745:CCAGC:C	acceptor_gain	0.9900
3:52833746:CAGCC:C	acceptor_gain	0.9900
3:52833748:GCCT:G	acceptor_loss	0.9900
3:52833750:C:T	acceptor_gain	0.9900
3:52833751:T:TC	acceptor_gain	0.9900
3:52834935:CCTA:C	donor_loss	0.9900
3:52834936:CTA:C	donor_loss	0.9900

AlphaMissense

523 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:52833399:G:C	F58L	0.982
3:52833399:G:T	F58L	0.982
3:52833401:A:G	F58L	0.982
3:52833412:G:T	A54D	0.959
3:52833716:G:T	R15S	0.958
3:52833628:A:G	M44T	0.956
3:52833403:A:T	V57E	0.955
3:52833620:A:G	C47R	0.947
3:52833642:C:A	K39N	0.945
3:52833642:C:G	K39N	0.945
3:52833646:G:A	S38F	0.945
3:52833400:A:G	F58S	0.942
3:52833691:A:G	L23P	0.933
3:52833638:A:C	Y41D	0.929
3:52833647:A:G	S38P	0.928
3:52833396:G:C	S59R	0.925
3:52833396:G:T	S59R	0.925
3:52833398:T:G	S59R	0.925
3:52833400:A:C	F58C	0.924
3:52833619:C:G	C47S	0.922
3:52833620:A:T	C47S	0.922
3:52833618:A:C	C47W	0.921
3:52833631:A:T	V43D	0.921
3:52833619:C:T	C47Y	0.911
3:52833640:G:T	T40N	0.896
3:52833682:G:T	A26D	0.893
3:52833694:T:C	D22G	0.892
3:52833640:G:A	T40I	0.891
3:52833619:C:A	C47F	0.889
3:52833627:C:A	M44I	0.888

dbSNP variants (sampled 300 via entrez): RS1000090614 (3:52834354 C>T), RS1000897041 (3:52835805 C>A), RS1000943366 (3:52835531 A>AG), RS1001091033 (3:52835588 A>G), RS1001891571 (3:52834418 G>A), RS1002023807 (3:52835473 C>T), RS1002220337 (3:52835124 G>A,T), RS1002731925 (3:52833236 A>C), RS1003469657 (3:52835942 T>C), RS1004235644 (3:52836420 C>A), RS1005701880 (3:52837014 C>A), RS1006238813 (3:52834678 G>A), RS1007120305 (3:52836155 T>C), RS1007546871 (3:52833998 C>T), RS1009993481 (3:52834316 G>A)

Disease associations

OMIM: gene MIM:617195 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

11 associations (top):

Study	Trait	p-value
GCST001241_15	Bipolar disorder	2.000000e-06
GCST001791_39	Urate levels	3.000000e-16
GCST002149_14	Schizophrenia	1.000000e-08
GCST002539_48	Schizophrenia	4.000000e-11
GCST004521_123	Autism spectrum disorder or schizophrenia	3.000000e-12
GCST004521_203	Autism spectrum disorder or schizophrenia	4.000000e-08
GCST004521_259	Autism spectrum disorder or schizophrenia	6.000000e-09
GCST006803_55	Schizophrenia	1.000000e-11
GCST007327_65	Smoking status (ever vs never smokers)	4.000000e-08
GCST008103_3	Bipolar disorder	7.000000e-11
GCST011122_44	Walking pace	3.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0004318	smoking behavior

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	4
trichostatin A	affects cotreatment, increases expression	2
Benzo(a)pyrene	decreases expression, decreases methylation	2
Aflatoxin B1	decreases expression, decreases methylation	2
decabromobiphenyl ether	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression	1
butyraldehyde	decreases expression	1
entinostat	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, increases expression	1
Vorinostat	affects cotreatment, increases expression	1
Panobinostat	increases expression, affects cotreatment	1
Atrazine	increases expression	1
Cisplatin	increases expression, affects cotreatment	1
Diethylhexyl Phthalate	decreases expression	1
Doxorubicin	increases expression	1
Estradiol	decreases expression	1
Phenylmercuric Acetate	affects cotreatment, increases expression	1
Smoke	decreases expression	1

Clinical trials (associated diseases)

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