THNSL1

Summary

THNSL1 (threonine synthase like 1, HGNC:26160) is a protein-coding gene on chromosome 10p12.1, encoding Threonine synthase-like 1 (Q8IYQ7).

Located in mitochondrion.

Source: NCBI Gene 79896 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 12 total
• MANE Select transcript: NM_024838

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26160
Approved symbol	THNSL1
Name	threonine synthase like 1
Location	10p12.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ22002, TSH1
Ensembl gene	ENSG00000185875
Ensembl biotype	protein_coding
OMIM	611260
Entrez	79896

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

ENST00000376356, ENST00000524413, ENST00000909294, ENST00000909295, ENST00000909296, ENST00000932245, ENST00000943122, ENST00000943123

RefSeq mRNA: 1 — MANE Select: NM_024838 NM_024838

CCDS: CCDS7147

Canonical transcript exons

ENST00000376356 — 3 exons

Exon	Start	End
ENSE00001321097	25021742	25021908
ENSE00001470292	25023176	25026664
ENSE00001470302	25016612	25016692

Expression profiles

Bgee: expression breadth ubiquitous, 217 present calls, max score 90.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0623 / max 29.2792, expressed in 1460 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
104359	3.7415	1419
104358	0.3208	156

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	90.63	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.09	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.35	gold quality
oocyte	CL:0000023	80.63	gold quality
right lobe of liver	UBERON:0001114	80.60	gold quality
cortical plate	UBERON:0005343	80.02	gold quality
islet of Langerhans	UBERON:0000006	79.67	gold quality
adrenal tissue	UBERON:0018303	78.35	gold quality
liver	UBERON:0002107	78.15	gold quality
bronchial epithelial cell	CL:0002328	76.54	gold quality
right adrenal gland cortex	UBERON:0035827	76.44	gold quality
right adrenal gland	UBERON:0001233	76.28	gold quality
ganglionic eminence	UBERON:0004023	74.93	gold quality
prefrontal cortex	UBERON:0000451	74.38	gold quality
ventricular zone	UBERON:0003053	74.38	gold quality
epithelium of nasopharynx	UBERON:0001951	73.72	silver quality
left adrenal gland	UBERON:0001234	73.59	gold quality
adrenal gland	UBERON:0002369	73.38	gold quality
germinal epithelium of ovary	UBERON:0001304	73.27	gold quality
adrenal cortex	UBERON:0001235	72.60	gold quality
pancreas	UBERON:0001264	72.59	gold quality
hindlimb stylopod muscle	UBERON:0004252	72.54	gold quality
left adrenal gland cortex	UBERON:0035825	72.53	gold quality
corpus epididymis	UBERON:0004359	72.21	gold quality
endometrium	UBERON:0001295	72.20	gold quality
biceps brachii	UBERON:0001507	72.16	silver quality
calcaneal tendon	UBERON:0003701	72.03	gold quality
epithelium of bronchus	UBERON:0002031	71.66	gold quality
frontal cortex	UBERON:0001870	71.61	gold quality
stromal cell of endometrium	CL:0002255	71.46	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-GEOD-81383	no	51.16
E-ANND-3	no	2.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

70 targeting THNSL1, 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-511-3P	99.99	68.85	1467
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-4302	99.89	67.94	1187
HSA-MIR-605-3P	99.88	69.22	1833
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-4694-3P	99.79	69.53	2640
HSA-MIR-1273H-5P	99.77	66.32	2471
HSA-MIR-30B-3P	99.70	65.76	2325
HSA-MIR-3689A-3P	99.70	65.73	2306
HSA-MIR-3689B-3P	99.70	65.71	2311
HSA-MIR-3689C	99.70	65.71	2311
HSA-MIR-6779-5P	99.70	65.76	2363
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-466	99.67	70.85	2863
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-7106-5P	99.53	67.47	3574
HSA-MIR-302B-5P	99.50	69.49	1857
HSA-MIR-302D-5P	99.50	69.34	1863
HSA-MIR-4643	99.49	67.63	1791

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
mus_musculus	Thnsl1	ENSMUSG00000048550
rattus_norvegicus	Thnsl1	ENSRNOG00000033076
caenorhabditis_elegans		WBGENE00007653
caenorhabditis_elegans		WBGENE00008490
caenorhabditis_elegans		WBGENE00008732
caenorhabditis_elegans		WBGENE00010759
caenorhabditis_elegans		WBGENE00019094
caenorhabditis_elegans		WBGENE00019096
caenorhabditis_elegans		WBGENE00019962

Paralogs (5): SDS (ENSG00000135094), SDSL (ENSG00000139410), THNSL2 (ENSG00000144115), CBS (ENSG00000160200), SRR (ENSG00000167720)

Protein

Protein identifiers

Threonine synthase-like 1 — Q8IYQ7 (reviewed: Q8IYQ7)

All UniProt accessions (1): Q8IYQ7

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the threonine synthase family.

RefSeq proteins (1): NP_079114* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000623	Shikimate_kinase/TSH1	Family
IPR004450	Thr_synthase-like	Family
IPR027417	P-loop_NTPase	Homologous_superfamily
IPR029144	Thr_synth_N	Domain
IPR031322	Shikimate/glucono_kinase	Family
IPR036052	TrpB-like_PALP_sf	Homologous_superfamily
IPR037158	Thr_synth_N_sf	Homologous_superfamily

Pfam: PF01202, PF14821, PF24857

UniProt features (9 total): sequence variant 4, modified residue 2, sequence conflict 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IYQ7-F1	87.56	0.72

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 (2): 281, 351

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 72 (showing top): MOLENAAR_TARGETS_OF_CCND1_AND_CDK4_UP, EFC_Q6, RFX1_02, chr10p12, HUTTMANN_B_CLL_POOR_SURVIVAL_UP, KRIEG_KDM3A_TARGETS_NOT_HYPOXIA, YAP1_DN, GSE13522_CTRL_VS_T_CRUZI_Y_STRAIN_INF_SKIN_IFNAR_KO_UP, ARNT2_TARGET_GENES, CBX7_TARGET_GENES, SUPT16H_TARGET_GENES, TFEB_TARGET_GENES, CASP8AP2_TARGET_GENES, MIR181B_2_3P_MIR181B_3P, MIR4420

GO Biological Process (0):

GO Molecular Function (0):

GO Cellular Component (2): cytoplasm (GO:0005737), mitochondrion (GO:0005739)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular anatomical structure	1
cellular anatomical structure	1
cytoplasm	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1308 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
THNSL1	C8orf82	Q6P1X6	545
THNSL1	APMAP	Q9HDC9	477
THNSL1	RSAD1	Q9HA92	418
THNSL1	AZIN1	O14977	402
THNSL1	ZFP14	Q9HCL3	401
THNSL1	OAZ2	O95190	388
THNSL1	ALKBH6	Q3KRA9	379
THNSL1	RDH13	Q8NBN7	373
THNSL1	ENKUR	Q8TC29	372
THNSL1	OAZ3	Q9UMX2	369
THNSL1	CNDP1	Q96KN2	365
THNSL1	ASS1	P00966	361
THNSL1	CTSK	P43235	353
THNSL1	ALDH18A1	P54886	353
THNSL1	GART	P22102	351

IntAct

70 interactions, top by confidence:

A	B	Type	Score
TGIF2LY	PGP	psi-mi:“MI:0914”(association)	0.640
GPX7	GAK	psi-mi:“MI:0914”(association)	0.640
MGME1	WDHD1	psi-mi:“MI:0914”(association)	0.530
SPATA24	GGPS1	psi-mi:“MI:0914”(association)	0.530
FXYD1	GCHFR	psi-mi:“MI:0914”(association)	0.530
SIX2	EYA2	psi-mi:“MI:0914”(association)	0.530
YBEY	NME4	psi-mi:“MI:0914”(association)	0.530
PLOD3	COL4A1	psi-mi:“MI:0914”(association)	0.530
ZNF263	AHCYL1	psi-mi:“MI:0914”(association)	0.530
THNSL1	TAC3	psi-mi:“MI:0915”(physical association)	0.400
SIRT4	VWA8	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
TAFA3	FUOM	psi-mi:“MI:0914”(association)	0.350
YBEY	NUDT19	psi-mi:“MI:0914”(association)	0.350
SIX2	EYA4	psi-mi:“MI:0914”(association)	0.350
TRMT2A	ANKHD1	psi-mi:“MI:0914”(association)	0.350
ZNF414	ANKHD1	psi-mi:“MI:0914”(association)	0.350
CCDC74B	PSMD11	psi-mi:“MI:0914”(association)	0.350
ZNF263	PPP1R12A	psi-mi:“MI:0914”(association)	0.350
TULP3	PPP1R12A	psi-mi:“MI:0914”(association)	0.350
FOXD4L6	ANKRD28	psi-mi:“MI:0914”(association)	0.350
UTP11	KLHL41	psi-mi:“MI:0914”(association)	0.350
TMEFF1	FGF2	psi-mi:“MI:0914”(association)	0.350
UIMC1	PYCR3	psi-mi:“MI:0914”(association)	0.350
rep	TMEM120B	psi-mi:“MI:0914”(association)	0.350

BioGRID (104): THNSL1 (Affinity Capture-MS), THNSL1 (Affinity Capture-MS), THNSL1 (Affinity Capture-MS), THNSL1 (Affinity Capture-MS), THNSL1 (Affinity Capture-MS), THNSL1 (Affinity Capture-MS), THNSL1 (Affinity Capture-MS), THNSL1 (Affinity Capture-MS), THNSL1 (Affinity Capture-MS), THNSL1 (Affinity Capture-MS), THNSL1 (Affinity Capture-MS), THNSL1 (Affinity Capture-MS), THNSL1 (Affinity Capture-MS), THNSL1 (Affinity Capture-MS), THNSL1 (Affinity Capture-MS)

ESM2 similar proteins: A2AJL3, A4IPA2, A6QM00, B2VEQ9, B7GGV9, O75191, P0CQ14, P0CQ15, P30646, P37677, P44399, P94524, Q0CH39, Q0P4K0, Q0TVK3, Q2GXN6, Q32LQ3, Q3MIF4, Q3SYZ6, Q3TNA1, Q49V87, Q4V7F3, Q58H57, Q5E9S4, Q5KYP6, Q5R5P3, Q5R830, Q5WL06, Q65GC1, Q6DCD1, Q6FLI1, Q6JQN1, Q6NUW9, Q6PEB4, Q758R9, Q87FK5, Q8BH55, Q8BWU8, Q8IYQ7, Q8K370

Diamond homologs: J9VI85, O24924, P00934, P16120, P23669, P27735, P29363, P37145, P44503, P57289, Q00063, Q2YDP8, Q42598, Q5M7T9, Q5R5P3, Q5RFE6, Q5XH07, Q80W22, Q86YJ6, Q89AR5, Q8BH55, Q8IYQ7, Q8K9V1, Q9BH05, Q9ZMX5, P45837, P66903, P9WG58, P9WG59, A4WFH8, A4X608, A5D373, A5I323, A6LFQ8, A6W2T4, A7FUV4, A7GEL1, A7ZSR5, A8A5J7, A8LY07

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	12
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

334 predictions. Top by Δscore:

Variant	Effect	Δscore
10:25021740:A:AG	acceptor_gain	1.0000
10:25021741:G:GG	acceptor_gain	1.0000
10:25021909:G:GG	donor_gain	1.0000
10:25021736:TTATA:T	acceptor_loss	0.9900
10:25021741:G:GA	acceptor_loss	0.9900
10:25021741:GA:G	acceptor_gain	0.9900
10:25021871:G:GT	donor_gain	0.9900
10:25021906:CTT:C	donor_gain	0.9900
10:25021907:TT:T	donor_gain	0.9900
10:25021741:GACT:G	acceptor_gain	0.9800
10:25021741:GACTC:G	acceptor_gain	0.9800
10:25021823:G:GG	donor_gain	0.9800
10:25021872:A:T	donor_gain	0.9800
10:25021905:ACTTG:A	donor_loss	0.9800
10:25021906:CTTG:C	donor_loss	0.9800
10:25021908:TGTAA:T	donor_loss	0.9800
10:25021909:G:T	donor_loss	0.9800
10:25021910:TAAGT:T	donor_loss	0.9800
10:25021911:A:AC	donor_loss	0.9800
10:25021912:AGT:A	donor_loss	0.9800
10:25021913:G:C	donor_loss	0.9800
10:25021735:A:AG	acceptor_gain	0.9700
10:25021739:T:G	acceptor_gain	0.9700
10:25021904:TACTT:T	donor_gain	0.9700
10:25021905:ACTT:A	donor_gain	0.9700
10:25016968:GTGT:G	donor_gain	0.9600
10:25021736:T:G	acceptor_gain	0.9500
10:25021741:GAC:G	acceptor_gain	0.9300
10:25016972:G:GG	donor_gain	0.9200
10:25021822:A:AG	donor_gain	0.9200

AlphaMissense

4906 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:25024640:T:A	W473R	0.990
10:25024640:T:C	W473R	0.990
10:25024821:C:A	A533D	0.990
10:25025154:C:A	A644D	0.989
10:25024097:G:C	A292P	0.986
10:25025234:T:C	F671L	0.985
10:25025236:T:A	F671L	0.985
10:25025236:T:G	F671L	0.985
10:25025153:G:C	A644P	0.984
10:25024250:T:C	F343L	0.983
10:25024252:T:A	F343L	0.983
10:25024252:T:G	F343L	0.983
10:25024619:A:C	S466R	0.983
10:25024621:T:A	S466R	0.983
10:25024621:T:G	S466R	0.983
10:25024639:C:A	N472K	0.983
10:25024639:C:G	N472K	0.983
10:25024762:C:A	N513K	0.982
10:25024762:C:G	N513K	0.982
10:25023426:A:T	K68I	0.981
10:25024275:A:T	K351I	0.981
10:25024676:T:C	S485P	0.981
10:25024773:C:A	A517E	0.981
10:25024630:C:A	N469K	0.980
10:25024630:C:G	N469K	0.980
10:25024753:C:A	N510K	0.980
10:25024753:C:G	N510K	0.980
10:25024936:C:A	N571K	0.980
10:25024936:C:G	N571K	0.980
10:25024736:T:C	C505R	0.979

dbSNP variants (sampled 300 via entrez): RS1000037406 (10:25015862 A>G), RS1000039019 (10:25015986 T>C), RS1000046400 (10:25007141 A>T), RS1000162347 (10:24964352 T>C), RS1000174467 (10:24967001 TA>T), RS1000281894 (10:24960730 G>A,C), RS1000300998 (10:25012962 G>A), RS1000411714 (10:24975838 C>A,T), RS1000433011 (10:24954587 C>A,G), RS1000467546 (10:25007735 C>T), RS1000541707 (10:24965373 C>G,T), RS1000641832 (10:24971043 C>A,T), RS1000782291 (10:25019344 C>T), RS1000786903 (10:25019018 G>A), RS1000795604 (10:25018385 C>G)

Disease associations

OMIM: gene MIM:611260 | 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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects cotreatment, decreases expression	5
trichostatin A	increases expression, affects cotreatment, decreases expression	3
arsenite	affects binding, increases reaction, increases methylation	2
perfluorooctane sulfonic acid	increases expression	2
Phenylmercuric Acetate	decreases expression, affects cotreatment	2
Cyclosporine	decreases expression	2
GSK-J4	decreases expression	1
nonachlor	affects expression, affects methylation	1
testosterone enanthate	affects expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	increases expression, affects binding, increases activity	1
bisphenol A	increases expression	1
sodium arsenite	decreases expression	1
perfluorooctanoic acid	increases expression	1
ferrous chloride	decreases expression	1
nickel sulfate	decreases expression	1
hydroquinone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
perfluorohexanesulfonic acid	decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Irinotecan	decreases expression	1
Sunitinib	decreases expression	1
Leflunomide	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Ethyl Methanesulfonate	decreases expression	1

Clinical trials (associated diseases)

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