MSS51

Summary

MSS51 (MSS51 mitochondrial translational activator, HGNC:21000) is a protein-coding gene on chromosome 10q22.2, encoding Putative protein MSS51 homolog, mitochondrial (Q4VC12).

Predicted to enable zinc ion binding activity.

Source: NCBI Gene 118490 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 91 total
• MANE Select transcript: NM_001024593

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:21000
Approved symbol	MSS51
Name	MSS51 mitochondrial translational activator
Location	10q22.2
Locus type	gene with protein product
Status	Approved
Aliases	FLJ39565
Ensembl gene	ENSG00000166343
Ensembl biotype	protein_coding
OMIM	614773
Entrez	118490

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 nonsense_mediated_decay

ENST00000299432, ENST00000372912, ENST00000487126

RefSeq mRNA: 1 — MANE Select: NM_001024593 NM_001024593

CCDS: CCDS31221

Canonical transcript exons

ENST00000299432 — 7 exons

Exon	Start	End
ENSE00001221979	73433513	73433561
ENSE00003593049	73425098	73425191
ENSE00003645001	73423579	73424772
ENSE00003890463	73426607	73426731
ENSE00003890611	73428064	73428301
ENSE00003893843	73425811	73426377
ENSE00003894512	73427613	73427768

Expression profiles

Bgee: expression breadth ubiquitous, 176 present calls, max score 97.57.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.1177 / max 47.3512, expressed in 19 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110061	0.1177	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
vastus lateralis	UBERON:0001379	97.57	gold quality
quadriceps femoris	UBERON:0001377	96.82	gold quality
biceps brachii	UBERON:0001507	96.62	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	96.19	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	95.49	gold quality
hindlimb stylopod muscle	UBERON:0004252	94.06	gold quality
skeletal muscle tissue	UBERON:0001134	93.84	gold quality
skeletal muscle organ	UBERON:0014892	92.34	gold quality
muscle of leg	UBERON:0001383	91.48	gold quality
gastrocnemius	UBERON:0001388	91.37	gold quality
muscle tissue	UBERON:0002385	88.72	gold quality
deltoid	UBERON:0001476	87.23	gold quality
tibialis anterior	UBERON:0001385	83.49	silver quality
oviduct epithelium	UBERON:0004804	78.55	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	76.40	gold quality
cerebellar hemisphere	UBERON:0002245	76.26	gold quality
cerebellar cortex	UBERON:0002129	76.17	gold quality
right hemisphere of cerebellum	UBERON:0014890	75.01	gold quality
cerebellum	UBERON:0002037	74.85	gold quality
apex of heart	UBERON:0002098	74.82	gold quality
granulocyte	CL:0000094	74.67	gold quality
lower esophagus mucosa	UBERON:0035834	74.22	gold quality
heart left ventricle	UBERON:0002084	72.47	gold quality
cardiac ventricle	UBERON:0002082	72.05	gold quality
stromal cell of endometrium	CL:0002255	71.43	gold quality
monocyte	CL:0000576	71.29	gold quality
spleen	UBERON:0002106	71.26	gold quality
leukocyte	CL:0000738	70.81	gold quality
body of uterus	UBERON:0009853	70.54	gold quality
lower esophagus	UBERON:0013473	70.37	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.65

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

• ANXA7, PPP3CB, DNAJC9, and ZMYND17 genes are potential candidate genes for schizophrenia, especially in patients with deficits in sustained attention and executive function. (PMID:21531385)
• Yeast Translational Activator Mss51p and Human ZMYND17 - Two Proteins with a Common Origin, but Different Functions. (PMID:34565318)
• YTHDF2 regulates MSS51 expression contributing to mitochondria dysfunction of granulosa cells in polycystic ovarian syndrome patients. (PMID:38830447)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	mss51	ENSDARG00000075463
mus_musculus	Mss51	ENSMUSG00000021815
rattus_norvegicus	Mss51	ENSRNOG00000007632
drosophila_melanogaster	Zmynd10	FBGN0266709

Paralogs (2): ZMYND10 (ENSG00000004838), ZMYND19 (ENSG00000165724)

Protein

Protein identifiers

Putative protein MSS51 homolog, mitochondrial — Q4VC12 (reviewed: Q4VC12)

Alternative names: Zinc finger MYND domain-containing protein 17

All UniProt accessions (2): Q4VC12, F6VAV3

UniProt curated annotations — full annotation on UniProt →

Isoforms (3)

UniProt ID	Names	Canonical?
Q4VC12-1	1	yes
Q4VC12-2	2
Q4VC12-3	3

RefSeq proteins (1): NP_001019764* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002893	Znf_MYND	Domain
IPR046824	Mss51-like_C	Domain
IPR052839	Mito_gene_expr_regulator	Family

Pfam: PF01753, PF20179

UniProt features (16 total): binding site 8, splice variant 4, chain 1, zinc finger region 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q4VC12-F1	87.63	0.78

Functional residue map

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

Ligand- & substrate-binding residues (8): 105; 108; 124; 127; 133; 137; 145; 149

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 64 (showing top): GCANCTGNY_MYOD_Q6, CAGCTG_AP4_Q5, IRF1_Q6, RYTAAWNNNTGAY_UNKNOWN, PITX2_Q2, AP4_Q6_01, STK33_SKM_UP, STK33_UP, LBP1_Q6, ZNF274_TARGET_GENES, ZNF563_TARGET_GENES, MIR616_5P, MIR371B_5P, MIR373_5P, MIR520D_5P

GO Biological Process (0):

GO Molecular Function (3): zinc ion binding (GO:0008270), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (0):

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transition metal ion binding	1
binding	1
cation binding	1

Protein interactions and networks

STRING

1281 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MSS51	COX14	Q96I36	802
MSS51	COA1	Q9GZY4	754
MSS51	COX5A	P20674	731
MSS51	COA3	Q9Y2R0	716
MSS51	TACO1	Q9BSH4	678
MSS51	COX15	Q7KZN9	576
MSS51	SURF1	Q15526	543
MSS51	PET117	Q6UWS5	531
MSS51	COX10	Q12887	519
MSS51	COX20	Q5RI15	507
MSS51	COX11	Q9Y6N1	496
MSS51	COX19	Q49B96	487
MSS51	COX4I2	Q96KJ9	471
MSS51	PET100	P0DJ07	456
MSS51	IGFN1	Q86VF2	452

IntAct

69 interactions, top by confidence:

A	B	Type	Score
MSS51	PICK1	psi-mi:“MI:0915”(physical association)	0.560
MSS51	CTNNBIP1	psi-mi:“MI:0915”(physical association)	0.560
MSS51	BEX2	psi-mi:“MI:0915”(physical association)	0.560
MSS51	TFG	psi-mi:“MI:0915”(physical association)	0.560
MSS51	KANK2	psi-mi:“MI:0915”(physical association)	0.560
GEM	MSS51	psi-mi:“MI:0915”(physical association)	0.560
CEACAM6	MSS51	psi-mi:“MI:0915”(physical association)	0.560
MSS51	HOMER3	psi-mi:“MI:0915”(physical association)	0.560
MSS51	TOLLIP	psi-mi:“MI:0915”(physical association)	0.560
MSS51	SNX18	psi-mi:“MI:0915”(physical association)	0.560
TSGA10IP	MSS51	psi-mi:“MI:0915”(physical association)	0.560
PRR35	MSS51	psi-mi:“MI:0915”(physical association)	0.560
MSS51	FAM90A1	psi-mi:“MI:0915”(physical association)	0.560
DNAJB13	MSS51	psi-mi:“MI:0915”(physical association)	0.560
MSS51	MGC50722	psi-mi:“MI:0915”(physical association)	0.560
CDKN2D	MSS51	psi-mi:“MI:0915”(physical association)	0.560
TLE5	MSS51	psi-mi:“MI:0915”(physical association)	0.560
MSS51	DTX2	psi-mi:“MI:0915”(physical association)	0.560
MSS51	SCNM1	psi-mi:“MI:0915”(physical association)	0.560
LMO1	MSS51	psi-mi:“MI:0915”(physical association)	0.560
SMU1	MSS51	psi-mi:“MI:0915”(physical association)	0.560
MSS51	SEMG1	psi-mi:“MI:0914”(association)	0.530
DUX4L9	MSS51	psi-mi:“MI:0915”(physical association)	0.370
PICK1	MSS51	psi-mi:“MI:0915”(physical association)	0.000
CTNNBIP1	MSS51	psi-mi:“MI:0915”(physical association)	0.000
BEX2	MSS51	psi-mi:“MI:0915”(physical association)	0.000
TFG	MSS51	psi-mi:“MI:0915”(physical association)	0.000
KANK2	MSS51	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (26): SEMG1 (Affinity Capture-MS), SEMG2 (Affinity Capture-MS), MSS51 (Two-hybrid), MSS51 (Two-hybrid), MSS51 (Two-hybrid), MSS51 (Two-hybrid), MSS51 (Two-hybrid), MSS51 (Two-hybrid), MSS51 (Two-hybrid), MSS51 (Two-hybrid), MSS51 (Two-hybrid), MSS51 (Two-hybrid), MSS51 (Two-hybrid), MSS51 (Two-hybrid), MSS51 (Two-hybrid)

ESM2 similar proteins: A0JMQ9, A2BD94, A2RRT3, A7YY07, A8WHR0, B2RYN2, B3M1F2, B3MJV4, B4HWV2, B4N8G7, B5E0H4, D3ZKV9, F5HB62, O36371, O43147, P03177, P41958, Q0D2D2, Q1HVD1, Q1L8G6, Q1LVQ2, Q2NKQ1, Q3KSQ2, Q3TQF0, Q4V8Z3, Q4VC12, Q5U430, Q5XUX0, Q66624, Q68FS7, Q6INH1, Q6ZRS2, Q6ZT12, Q7ZUL9, Q80U12, Q84WW1, Q8AXQ3, Q8BFX3, Q8BMQ2, Q8BPQ7

Diamond homologs: A9CPT4, C3RZA1, D3ZKV9, E1C5V0, F1QN74, F1RET2, O74467, P97443, Q0P585, Q12529, Q3TYX3, Q4VC12, Q5BJI7, Q5F3V0, Q5R5X9, Q5RGL7, Q5UNT8, Q5ZIZ2, Q6C9E7, Q6GMV2, Q6GN68, Q6GPQ4, Q7M6Z3, Q7TSV3, Q7ZXV5, Q8BTK5, Q8IYR2, Q8NB12, Q8R5A0, Q91YE3, Q96E35, Q9BXT4, Q9CQG3, Q9CWR2, Q9D5Z5, Q9GZT9, Q9H7B4, Q9N3Q8, Q9NRG4, Q9VU41

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	82
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1017 predictions. Top by Δscore:

Variant	Effect	Δscore
10:73428062:A:AC	donor_gain	1.0000
10:73428063:C:CC	donor_gain	1.0000
10:73429612:CA:C	donor_gain	1.0000
10:73424770:TGG:T	acceptor_gain	0.9900
10:73424773:C:CC	acceptor_gain	0.9900
10:73425073:A:AC	donor_gain	0.9900
10:73425099:TGTAA:T	donor_gain	0.9900
10:73426137:AGG:A	donor_gain	0.9900
10:73426547:T:TA	donor_gain	0.9900
10:73426595:C:CT	donor_gain	0.9900
10:73426608:TGTG:T	donor_gain	0.9900
10:73429612:CACT:C	donor_gain	0.9900
10:73433508:CTTA:C	donor_loss	0.9900
10:73433509:TTA:T	donor_loss	0.9900
10:73433510:TA:T	donor_loss	0.9900
10:73433511:A:AC	donor_gain	0.9900
10:73433511:AC:A	donor_gain	0.9900
10:73433512:C:CC	donor_gain	0.9900
10:73433512:CC:C	donor_gain	0.9900
10:73433512:CCCTG:C	donor_gain	0.9900
10:73424771:GG:G	acceptor_gain	0.9800
10:73424775:G:C	acceptor_gain	0.9800
10:73425127:A:AC	donor_gain	0.9800
10:73425127:ATAGT:A	donor_gain	0.9800
10:73426596:C:CT	donor_gain	0.9800
10:73427694:T:TA	donor_gain	0.9800
10:73428067:T:C	donor_gain	0.9800
10:73428313:A:C	acceptor_gain	0.9800
10:73433511:ACC:A	donor_gain	0.9800
10:73433512:CCC:C	donor_gain	0.9800

AlphaMissense

2973 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:73425159:A:G	W368R	0.987
10:73425159:A:T	W368R	0.987
10:73425886:A:C	Y332D	0.980
10:73425188:A:G	F358S	0.975
10:73425134:C:G	R376P	0.973
10:73427678:G:C	F104L	0.969
10:73427678:G:T	F104L	0.969
10:73427680:A:G	F104L	0.969
10:73426676:G:C	H145D	0.967
10:73424700:A:C	N412K	0.966
10:73424700:A:T	N412K	0.966
10:73425818:G:C	F354L	0.965
10:73425818:G:T	F354L	0.965
10:73425820:A:G	F354L	0.965
10:73424634:A:C	S434R	0.964
10:73424634:A:T	S434R	0.964
10:73424636:T:G	S434R	0.964
10:73425886:A:T	Y332N	0.963
10:73426637:C:G	D158H	0.961
10:73424682:T:A	K418N	0.960
10:73424682:T:G	K418N	0.960
10:73425146:A:G	L372P	0.959
10:73428144:G:C	F47L	0.959
10:73428144:G:T	F47L	0.959
10:73428146:A:G	F47L	0.959
10:73426729:C:G	C127S	0.958
10:73426730:A:T	C127S	0.958
10:73424753:A:G	S395P	0.956
10:73425976:C:G	G302R	0.955
10:73426312:A:G	W190R	0.955

dbSNP variants (sampled 300 via entrez): RS1000924322 (10:73432896 G>A), RS1000935773 (10:73429230 A>G), RS1001323310 (10:73428232 G>A), RS1001679809 (10:73434802 C>G,T), RS1001832791 (10:73432089 A>G), RS1002108371 (10:73432946 A>G), RS1002192848 (10:73434544 G>T), RS1002384790 (10:73425661 C>A), RS1002869825 (10:73428002 C>A,T), RS1003265018 (10:73425208 A>G), RS1003385234 (10:73434907 G>A), RS1003416522 (10:73435265 T>C), RS1004115017 (10:73429693 G>A), RS1004128755 (10:73425705 A>C,G,T), RS1004183018 (10:73431365 T>C,G)

Disease associations

OMIM: gene MIM:614773 | 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

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression	3
aristolochic acid I	increases expression	1
bisphenol A	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
clothianidin	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
(+)-JQ1 compound	increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Doxorubicin	decreases expression	1
Ozone	affects expression, increases abundance	1
Thiram	increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

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