SHMT1 (serine hydroxymethyltransferase 1)

Gene

• Entrez ID: 6470
• Gene name: Serine hydroxymethyltransferase 1
• Gene symbol: SHMT1
• Synonyms (NCBI Gene): CSHMT, SHMT
• Chromosome: 17
• Chromosome location: 17p11.2
• Summary: This gene encodes the cytosolic form of serine hydroxymethyltransferase, a pyridoxal phosphate-containing enzyme that catalyzes the reversible conversion of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. This reaction provides

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016266	hsa-miR-193b-3p	Microarray	20304954
MIRT045899	hsa-miR-125b-5p	CLASH	23622248
MIRT666395	hsa-miR-548a-3p	HITS-CLIP	23824327
MIRT666394	hsa-miR-548ar-3p	HITS-CLIP	23824327
MIRT666393	hsa-miR-548az-3p	HITS-CLIP	23824327
MIRT666392	hsa-miR-548e-3p	HITS-CLIP	23824327
MIRT666391	hsa-miR-548f-3p	HITS-CLIP	23824327
MIRT505656	hsa-miR-4282	HITS-CLIP	23824327
MIRT666390	hsa-miR-548g-3p	HITS-CLIP	23824327
MIRT666389	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT666388	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT666387	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT666386	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT666385	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT666384	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT666382	hsa-miR-5696	HITS-CLIP	23824327
MIRT666383	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT666381	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT666380	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT666379	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT573047	hsa-miR-122-3p	PAR-CLIP	20371350
MIRT573045	hsa-miR-1234-3p	PAR-CLIP	20371350
MIRT573046	hsa-miR-7107-5p	PAR-CLIP	20371350
MIRT573044	hsa-miR-20b-3p	PAR-CLIP	20371350
MIRT573043	hsa-miR-4641	PAR-CLIP	20371350
MIRT573041	hsa-miR-4763-5p	PAR-CLIP	20371350
MIRT573042	hsa-miR-6735-3p	PAR-CLIP	20371350
MIRT505658	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT505657	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT505656	hsa-miR-4282	PAR-CLIP	21572407
MIRT505655	hsa-miR-224-3p	PAR-CLIP	21572407
MIRT505654	hsa-miR-522-3p	PAR-CLIP	21572407
MIRT554317	hsa-miR-4778-5p	PAR-CLIP	21572407
MIRT489666	hsa-miR-7114-5p	PAR-CLIP	21572407
MIRT554316	hsa-miR-134-3p	PAR-CLIP	21572407
MIRT505653	hsa-miR-508-3p	PAR-CLIP	21572407
MIRT505652	hsa-miR-219a-5p	PAR-CLIP	21572407
MIRT505651	hsa-miR-4782-3p	PAR-CLIP	21572407
MIRT505650	hsa-miR-6766-3p	PAR-CLIP	21572407
MIRT505649	hsa-miR-4445-5p	PAR-CLIP	21572407
MIRT505648	hsa-miR-636	PAR-CLIP	21572407
MIRT554315	hsa-miR-203a-5p	PAR-CLIP	21572407
MIRT554314	hsa-miR-1273g-5p	PAR-CLIP	21572407
MIRT505647	hsa-miR-4477a	PAR-CLIP	21572407
MIRT489669	hsa-miR-6805-5p	PAR-CLIP	22012620
MIRT489667	hsa-miR-4302	PAR-CLIP	22012620
MIRT489666	hsa-miR-7114-5p	PAR-CLIP	22012620
MIRT489665	hsa-miR-3184-5p	PAR-CLIP	22012620
MIRT489664	hsa-miR-423-5p	PAR-CLIP	22012620
MIRT530206	hsa-miR-1914-3p	PAR-CLIP	22012620
MIRT530205	hsa-miR-5194	PAR-CLIP	22012620
MIRT530204	hsa-miR-6738-5p	PAR-CLIP	22012620
MIRT489663	hsa-miR-6499-3p	PAR-CLIP	22012620
MIRT489662	hsa-miR-34a-5p	PAR-CLIP	22012620
MIRT489661	hsa-miR-34c-5p	PAR-CLIP	22012620
MIRT489660	hsa-miR-449a	PAR-CLIP	22012620
MIRT489659	hsa-miR-449b-5p	PAR-CLIP	22012620
MIRT489658	hsa-miR-486-3p	PAR-CLIP	22012620
MIRT489657	hsa-miR-3177-5p	PAR-CLIP	22012620
MIRT489655	hsa-miR-6734-5p	PAR-CLIP	22012620
MIRT489654	hsa-let-7c-3p	PAR-CLIP	22012620
MIRT505658	hsa-miR-218-5p	PAR-CLIP	23446348
MIRT505657	hsa-miR-548c-3p	PAR-CLIP	23446348
MIRT505656	hsa-miR-4282	PAR-CLIP	23446348
MIRT505655	hsa-miR-224-3p	PAR-CLIP	23446348
MIRT505654	hsa-miR-522-3p	PAR-CLIP	23446348
MIRT505653	hsa-miR-508-3p	PAR-CLIP	23446348
MIRT505652	hsa-miR-219a-5p	PAR-CLIP	23446348
MIRT505651	hsa-miR-4782-3p	PAR-CLIP	23446348
MIRT505650	hsa-miR-6766-3p	PAR-CLIP	23446348
MIRT505649	hsa-miR-4445-5p	PAR-CLIP	23446348
MIRT505648	hsa-miR-636	PAR-CLIP	23446348
MIRT505647	hsa-miR-4477a	PAR-CLIP	23446348
MIRT489670	hsa-miR-4662a-3p	PAR-CLIP	23592263
MIRT489669	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT489668	hsa-miR-3174	PAR-CLIP	23592263
MIRT489667	hsa-miR-4302	PAR-CLIP	23592263
MIRT489666	hsa-miR-7114-5p	PAR-CLIP	23592263
MIRT489665	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT489664	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT489663	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT489662	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT489661	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT489660	hsa-miR-449a	PAR-CLIP	23592263
MIRT489659	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT489658	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT489657	hsa-miR-3177-5p	PAR-CLIP	23592263
MIRT489656	hsa-miR-921	PAR-CLIP	23592263
MIRT489655	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT489654	hsa-let-7c-3p	PAR-CLIP	23592263
MIRT489654	hsa-let-7c-3p	PAR-CLIP	27292025
MIRT489654	hsa-let-7c-3p	PAR-CLIP	27292025
MIRT530206	hsa-miR-1914-3p	PAR-CLIP	27292025
MIRT530206	hsa-miR-1914-3p	PAR-CLIP	27292025
MIRT489657	hsa-miR-3177-5p	PAR-CLIP	27292025
MIRT489657	hsa-miR-3177-5p	PAR-CLIP	27292025
MIRT489665	hsa-miR-3184-5p	PAR-CLIP	27292025
MIRT489665	hsa-miR-3184-5p	PAR-CLIP	27292025
MIRT489662	hsa-miR-34a-5p	PAR-CLIP	27292025
MIRT489662	hsa-miR-34a-5p	PAR-CLIP	27292025
MIRT489661	hsa-miR-34c-5p	PAR-CLIP	27292025
MIRT489661	hsa-miR-34c-5p	PAR-CLIP	27292025
MIRT489664	hsa-miR-423-5p	PAR-CLIP	27292025
MIRT489664	hsa-miR-423-5p	PAR-CLIP	27292025
MIRT489667	hsa-miR-4302	PAR-CLIP	27292025
MIRT489667	hsa-miR-4302	PAR-CLIP	27292025
MIRT489660	hsa-miR-449a	PAR-CLIP	27292025
MIRT489660	hsa-miR-449a	PAR-CLIP	27292025
MIRT489659	hsa-miR-449b-5p	PAR-CLIP	27292025
MIRT489659	hsa-miR-449b-5p	PAR-CLIP	27292025
MIRT489658	hsa-miR-486-3p	PAR-CLIP	27292025
MIRT489658	hsa-miR-486-3p	PAR-CLIP	27292025
MIRT530205	hsa-miR-5194	PAR-CLIP	27292025
MIRT530205	hsa-miR-5194	PAR-CLIP	27292025
MIRT489663	hsa-miR-6499-3p	PAR-CLIP	27292025
MIRT489663	hsa-miR-6499-3p	PAR-CLIP	27292025
MIRT489655	hsa-miR-6734-5p	PAR-CLIP	27292025
MIRT489655	hsa-miR-6734-5p	PAR-CLIP	27292025
MIRT530204	hsa-miR-6738-5p	PAR-CLIP	27292025
MIRT530204	hsa-miR-6738-5p	PAR-CLIP	27292025
MIRT489669	hsa-miR-6805-5p	PAR-CLIP	27292025
MIRT489669	hsa-miR-6805-5p	PAR-CLIP	27292025
MIRT489666	hsa-miR-7114-5p	PAR-CLIP	27292025
MIRT735602	hsa-miR-6778-5p	Western blotting, Microarray, Immunoprecipitaion (IP), Immunohistochemistry (IHC), qRT-PCR	32142918
MIRT666395	hsa-miR-548a-3p	HITS-CLIP	23824327
MIRT666394	hsa-miR-548ar-3p	HITS-CLIP	23824327
MIRT666393	hsa-miR-548az-3p	HITS-CLIP	23824327
MIRT666392	hsa-miR-548e-3p	HITS-CLIP	23824327
MIRT666391	hsa-miR-548f-3p	HITS-CLIP	23824327
MIRT505656	hsa-miR-4282	HITS-CLIP	23824327
MIRT666390	hsa-miR-548g-3p	HITS-CLIP	23824327
MIRT666389	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT666388	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT666387	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT666386	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT666385	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT666384	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT666382	hsa-miR-5696	HITS-CLIP	23824327
MIRT666383	hsa-miR-579-3p	HITS-CLIP	23824327
MIRT666381	hsa-miR-664b-3p	HITS-CLIP	23824327
MIRT666380	hsa-miR-1304-5p	HITS-CLIP	23824327
MIRT666379	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT573047	hsa-miR-122-3p	PAR-CLIP	20371350
MIRT573045	hsa-miR-1234-3p	PAR-CLIP	20371350
MIRT573046	hsa-miR-7107-5p	PAR-CLIP	20371350
MIRT573044	hsa-miR-20b-3p	PAR-CLIP	20371350
MIRT573043	hsa-miR-4641	PAR-CLIP	20371350
MIRT573041	hsa-miR-4763-5p	PAR-CLIP	20371350
MIRT573042	hsa-miR-6735-3p	PAR-CLIP	20371350
MIRT505658	hsa-miR-218-5p	PAR-CLIP	21572407
MIRT505657	hsa-miR-548c-3p	PAR-CLIP	21572407
MIRT505656	hsa-miR-4282	PAR-CLIP	21572407
MIRT505655	hsa-miR-224-3p	PAR-CLIP	21572407
MIRT505654	hsa-miR-522-3p	PAR-CLIP	21572407
MIRT554317	hsa-miR-4778-5p	PAR-CLIP	21572407
MIRT489666	hsa-miR-7114-5p	PAR-CLIP	21572407
MIRT554316	hsa-miR-134-3p	PAR-CLIP	21572407
MIRT505653	hsa-miR-508-3p	PAR-CLIP	21572407
MIRT505652	hsa-miR-219a-5p	PAR-CLIP	21572407
MIRT505651	hsa-miR-4782-3p	PAR-CLIP	21572407
MIRT505650	hsa-miR-6766-3p	PAR-CLIP	21572407
MIRT505649	hsa-miR-4445-5p	PAR-CLIP	21572407
MIRT505648	hsa-miR-636	PAR-CLIP	21572407
MIRT554315	hsa-miR-203a-5p	PAR-CLIP	21572407
MIRT554314	hsa-miR-1273g-5p	PAR-CLIP	21572407
MIRT505647	hsa-miR-4477a	PAR-CLIP	21572407
MIRT489669	hsa-miR-6805-5p	PAR-CLIP	22012620
MIRT489667	hsa-miR-4302	PAR-CLIP	22012620
MIRT489666	hsa-miR-7114-5p	PAR-CLIP	22012620
MIRT489665	hsa-miR-3184-5p	PAR-CLIP	22012620
MIRT489664	hsa-miR-423-5p	PAR-CLIP	22012620
MIRT530206	hsa-miR-1914-3p	PAR-CLIP	22012620
MIRT530205	hsa-miR-5194	PAR-CLIP	22012620
MIRT530204	hsa-miR-6738-5p	PAR-CLIP	22012620
MIRT489663	hsa-miR-6499-3p	PAR-CLIP	22012620
MIRT489662	hsa-miR-34a-5p	PAR-CLIP	22012620
MIRT489661	hsa-miR-34c-5p	PAR-CLIP	22012620
MIRT489660	hsa-miR-449a	PAR-CLIP	22012620
MIRT489659	hsa-miR-449b-5p	PAR-CLIP	22012620
MIRT489658	hsa-miR-486-3p	PAR-CLIP	22012620
MIRT489657	hsa-miR-3177-5p	PAR-CLIP	22012620
MIRT489655	hsa-miR-6734-5p	PAR-CLIP	22012620
MIRT489654	hsa-let-7c-3p	PAR-CLIP	22012620
MIRT505658	hsa-miR-218-5p	PAR-CLIP	23446348
MIRT505657	hsa-miR-548c-3p	PAR-CLIP	23446348
MIRT505656	hsa-miR-4282	PAR-CLIP	23446348
MIRT505655	hsa-miR-224-3p	PAR-CLIP	23446348
MIRT505654	hsa-miR-522-3p	PAR-CLIP	23446348
MIRT505653	hsa-miR-508-3p	PAR-CLIP	23446348
MIRT505652	hsa-miR-219a-5p	PAR-CLIP	23446348
MIRT505651	hsa-miR-4782-3p	PAR-CLIP	23446348
MIRT505650	hsa-miR-6766-3p	PAR-CLIP	23446348
MIRT505649	hsa-miR-4445-5p	PAR-CLIP	23446348
MIRT505648	hsa-miR-636	PAR-CLIP	23446348
MIRT505647	hsa-miR-4477a	PAR-CLIP	23446348
MIRT489670	hsa-miR-4662a-3p	PAR-CLIP	23592263
MIRT489669	hsa-miR-6805-5p	PAR-CLIP	23592263
MIRT489668	hsa-miR-3174	PAR-CLIP	23592263
MIRT489667	hsa-miR-4302	PAR-CLIP	23592263
MIRT489666	hsa-miR-7114-5p	PAR-CLIP	23592263
MIRT489665	hsa-miR-3184-5p	PAR-CLIP	23592263
MIRT489664	hsa-miR-423-5p	PAR-CLIP	23592263
MIRT489663	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT489662	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT489661	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT489660	hsa-miR-449a	PAR-CLIP	23592263
MIRT489659	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT489658	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT489657	hsa-miR-3177-5p	PAR-CLIP	23592263
MIRT489656	hsa-miR-921	PAR-CLIP	23592263
MIRT489655	hsa-miR-6734-5p	PAR-CLIP	23592263
MIRT489654	hsa-let-7c-3p	PAR-CLIP	23592263
MIRT505658	hsa-miR-218-5p	Luciferase reporter assay, Western blotting	37799388
MIRT755614	hsa-miR-9-5p	Luciferase reporter assay, Western blotting	37799388
MIRT1347430	hsa-miR-3184	CLIP-seq
MIRT1347431	hsa-miR-34a	CLIP-seq
MIRT1347432	hsa-miR-449b	CLIP-seq
MIRT1347433	hsa-miR-298	CLIP-seq
MIRT1347434	hsa-miR-3120-3p	CLIP-seq
MIRT1347435	hsa-miR-3920	CLIP-seq
MIRT1347436	hsa-miR-4762-3p	CLIP-seq
MIRT1347437	hsa-miR-922	CLIP-seq
MIRT1347435	hsa-miR-3920	CLIP-seq
MIRT1347436	hsa-miR-4762-3p	CLIP-seq
MIRT2327215	hsa-miR-1266	CLIP-seq
MIRT2327216	hsa-miR-3127-3p	CLIP-seq
MIRT2327217	hsa-miR-3664-3p	CLIP-seq
MIRT2327218	hsa-miR-421	CLIP-seq
MIRT2327219	hsa-miR-4518	CLIP-seq
MIRT2327220	hsa-miR-4660	CLIP-seq
MIRT2327221	hsa-miR-4709-5p	CLIP-seq
MIRT2327222	hsa-miR-505	CLIP-seq
MIRT2327223	hsa-miR-646	CLIP-seq
MIRT2622462	hsa-miR-1243	CLIP-seq
MIRT2622463	hsa-miR-1261	CLIP-seq
MIRT2622464	hsa-miR-1271	CLIP-seq
MIRT2622465	hsa-miR-182	CLIP-seq
MIRT1347433	hsa-miR-298	CLIP-seq
MIRT1347434	hsa-miR-3120-3p	CLIP-seq
MIRT2622466	hsa-miR-3121-5p	CLIP-seq
MIRT2622467	hsa-miR-3138	CLIP-seq
MIRT2622468	hsa-miR-3185	CLIP-seq
MIRT2622469	hsa-miR-3611	CLIP-seq
MIRT2622470	hsa-miR-3622b-5p	CLIP-seq
MIRT1347435	hsa-miR-3920	CLIP-seq
MIRT2622471	hsa-miR-3945	CLIP-seq
MIRT2622472	hsa-miR-4252	CLIP-seq
MIRT2622473	hsa-miR-4253	CLIP-seq
MIRT2622474	hsa-miR-4277	CLIP-seq
MIRT2622475	hsa-miR-4279	CLIP-seq
MIRT2622476	hsa-miR-4642	CLIP-seq
MIRT2622477	hsa-miR-4760-3p	CLIP-seq
MIRT1347436	hsa-miR-4762-3p	CLIP-seq
MIRT2622478	hsa-miR-4800-5p	CLIP-seq
MIRT2622479	hsa-miR-4803	CLIP-seq
MIRT2622480	hsa-miR-570	CLIP-seq
MIRT2622481	hsa-miR-758	CLIP-seq
MIRT1347437	hsa-miR-922	CLIP-seq
MIRT2622482	hsa-miR-96	CLIP-seq
MIRT2622467	hsa-miR-3138	CLIP-seq
MIRT2622471	hsa-miR-3945	CLIP-seq
MIRT2622473	hsa-miR-4253	CLIP-seq
MIRT2622478	hsa-miR-4800-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
MYC	Unknown	12138190

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000900	Function	MRNA regulatory element binding translation repressor activity	IDA	10995219
GO:0004372	Function	Glycine hydroxymethyltransferase activity	IBA
GO:0004372	Function	Glycine hydroxymethyltransferase activity	IDA	8505317, 10995219, 17482557, 24698160
GO:0004372	Function	Glycine hydroxymethyltransferase activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 30613765, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IBA
GO:0005829	Component	Cytosol	IDA	17482557
GO:0005829	Component	Cytosol	TAS
GO:0006231	Process	DTMP biosynthetic process	IEA
GO:0006417	Process	Regulation of translation	IEA
GO:0006544	Process	Glycine metabolic process	IDA	24698160
GO:0006544	Process	Glycine metabolic process	IEA
GO:0006563	Process	L-serine metabolic process	IDA	24698160
GO:0006563	Process	L-serine metabolic process	IEA
GO:0006565	Process	L-serine catabolic process	IDA	17482557
GO:0006730	Process	One-carbon metabolic process	IEA
GO:0009113	Process	Purine nucleobase biosynthetic process	IDA	11516159
GO:0016740	Function	Transferase activity	IEA
GO:0016832	Function	Aldehyde-lyase activity	EXP	3110140, 6795186, 11802770
GO:0017148	Process	Negative regulation of translation	IDA	10995219
GO:0019264	Process	Glycine biosynthetic process from serine	IBA
GO:0019264	Process	Glycine biosynthetic process from serine	IEA
GO:0030170	Function	Pyridoxal phosphate binding	IBA
GO:0030170	Function	Pyridoxal phosphate binding	IDA	17482557, 24698160
GO:0030170	Function	Pyridoxal phosphate binding	IEA
GO:0035999	Process	Tetrahydrofolate interconversion	IDA	24698160
GO:0035999	Process	Tetrahydrofolate interconversion	IEA
GO:0036094	Function	Small molecule binding	IPI	24698160
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	25416956, 32296183
GO:0042803	Function	Protein homodimerization activity	IDA	9753690
GO:0045329	Process	Carnitine biosynthetic process	TAS
GO:0046653	Process	Tetrahydrofolate metabolic process	IBA
GO:0046653	Process	Tetrahydrofolate metabolic process	IDA	24698160
GO:0046653	Process	Tetrahydrofolate metabolic process	IEA
GO:0046655	Process	Folic acid metabolic process	IDA	11278996
GO:0046655	Process	Folic acid metabolic process	TAS
GO:0048027	Function	MRNA 5'-UTR binding	IDA	10995219
GO:0051289	Process	Protein homotetramerization	IDA	24698160
GO:0051289	Process	Protein homotetramerization	IEA
GO:0070013	Component	Intracellular organelle lumen	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070905	Function	Serine binding	IDA	24698160
GO:1904482	Process	Cellular response to tetrahydrofolate	IDA	24698160
GO:1990830	Process	Cellular response to leukemia inhibitory factor	IEA

Other IDs

• MIM: 182144
• HGNC: 10850
• e!Ensembl: ENSG00000176974

Protein

• UniProt ID: P34896
• Protein name: Serine hydroxymethyltransferase, cytosolic (SHMT) (EC 2.1.2.1) (Glycine hydroxymethyltransferase) (Serine methylase)
• Protein function: Interconversion of serine and glycine (PubMed:24698160, PubMed:8505317).
• PDB: 1BJ4, 6FL5, 6M5W, 7RJL, 7RJP, 8A11, 8R7H
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00464	SHMT	26 → 425	Serine hydroxymethyltransferase	Domain

• Sequence:

  MTMPVNGAHKDADLWSSHDKMLAQPLKDSDVEVYNIIKKESNRQRVGLELIASENFASRA
  VLEALGSCLNNKYSEGYPGQRYYGGTEFIDELETLCQKRALQAYKLDPQCWGVNVQPYSG
  SPANFAVYTALVEPHGRIMGLDLPDGGHLTHGFMTDKKKISATSIFFESMPYKVNPDTGY
  INYDQLEENARLFHPKLIIAGTSCYSRNLEYARLRKIADENGAYLMADMAHISGLVAAGV
  VPSPFEHCHVVTTTTHKTLRGCRAGMIFYRKGVKSVDPKTGKEILYNLESLINSAVFPGL
  QGGPHNHAIAGVAVALKQAMTLEFKVYQHQVVANCRALSEALTELGYKIVTGGSDNHLIL
  VDLRSKGTDGGRAEKVLEACSIACNKNTCPGDRSALRPSGLRLGTPALTSRGLLEKDFQK
  VAHFIHRGIELTLQIQSDTGVRATLKEFKERLAGDKYQAAVQALREEVESFASLFPLPGL
  PDF

• Sequence length: 483

Pathways

KEGG:

Glycine, serine and threonine metabolism
Glyoxylate and dicarboxylate metabolism
One carbon pool by folate
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
Biosynthesis of cofactors
Antifolate resistance
Folate transport and metabolism

Reactome:

Metabolism of folate and pterines
Carnitine synthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastrointestinal stromal tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NERVOUS SYSTEM DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE FIBROID	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15797993, 19775302, 22838948		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17206530		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	26553359, 30138108, 31124332		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	27602772		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	17113224		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	17113224		★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	11986237, 12604405, 15797993, 22838948		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	16447238		★☆☆☆☆ Found in Text Mining only
Anaplastic carcinoma	Anaplastic Carcinoma	BEFREE	27277113		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	19440165		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17311259		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	17595805		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19707223, 22134752, 24789272, 26125758		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17595805, 24979213, 25496516, 25598430, 27347936	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	27347936	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcinosis	Calcinosis	Pubtator	30071536	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	27277113	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	25053597	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25318605, 27936032	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Lobular	Lobular carcinoma	Pubtator	25053597	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Medullary	Medullary carcinoma	Pubtator	27277113	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17311259		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17420066, 20842733, 25412303, 29991441, 30755243		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	18381459	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35096270, 37796681	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	31967407	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18381459, 25066213, 30755243		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	16046727, 21178087, 22649255, 25948668		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25948668	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	21935458, 33259775	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	21935458		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	15797993, 20101025, 22838948, 26950450		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30071536		★☆☆☆☆ Found in Text Mining only
Cleft Lip with or without Cleft Palate	Cleft Lip With Or Without Cleft Palate	BEFREE	31713293		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	20920350		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	29073064		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	20920350, 23322534, 23401104, 25194438, 25948668		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	18996879, 19776626, 20920350, 25948668	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	28264803		★☆☆☆☆ Found in Text Mining only
Diffuse Mixed-Cell Lymphoma	Diffuse Lymphoma	CTD_human_DG	17119116		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	21687976		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	23421317	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	17904392		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	18381459		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	30411815		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	30411815	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	24419221	Associate	★☆☆☆☆ Found in Text Mining only
Folate Malabsorption Hereditary	Hereditary folate malabsorption	Pubtator	34502300	Associate	★☆☆☆☆ Found in Text Mining only
Folic Acid Deficiency	Folic Acid Deficiency	BEFREE	25833982		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	25227144	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	17206530		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	37823569	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	24362509		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	33369477	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	28264803	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	17595805	Associate	★☆☆☆☆ Found in Text Mining only
High Grade Lymphoma (neoplasm)	High Grade Lymphoma	CTD_human_DG	17119116		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	BEFREE	30411815		★☆☆☆☆ Found in Text Mining only
Hyperhomocysteinemia	Hyperhomocysteinemia	Pubtator	30411815	Associate	★☆☆☆☆ Found in Text Mining only
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	30071536		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	30411815	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	22044939, 29995270, 30411815		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37823569	Inhibit	★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	30755243		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	21935458		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	37796681	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal neoplasm	Laryngeal neoplasm	BEFREE	24362509		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	24716966		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24641398	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20101025		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25318605, 30755243		★☆☆☆☆ Found in Text Mining only
Low Grade Lymphoma (neoplasm)	Low Grade Lymphoma	CTD_human_DG	17119116		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17420066		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	17420066, 30035852	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25412303	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	LHGDN	12604405		★☆☆☆☆ Found in Text Mining only
Lymphoma, Diffuse	Lymphoma	CTD_human_DG	17119116		★☆☆☆☆ Found in Text Mining only
Lymphoma, Intermediate-Grade	Intermediate Grade Lymphoma	CTD_human_DG	17119116		★☆☆☆☆ Found in Text Mining only
Lymphoma, Mixed-Cell	Lymphoma	CTD_human_DG	17119116		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	15198953, 21055808, 23913011, 25384508, 26666829		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	CTD_human_DG	17119116		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	CTD_human_DG	17119116		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	26666829		★☆☆☆☆ Found in Text Mining only
Lymphoma, Small Noncleaved-Cell	Lymphoma	CTD_human_DG	17119116		★☆☆☆☆ Found in Text Mining only
Lymphoma, Undifferentiated	Lymphoma	CTD_human_DG	17119116		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	24362509		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	17595805		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19707223, 22134752, 24789272, 26125758		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	17420066, 20842733, 25412303, 29991441, 30755243		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18381459, 25066213, 30755243		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	20852008, 23724740		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17311259		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15044825, 24716966, 25132602, 25194438, 26666829, 28265077, 29474406, 30755243		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	20920350		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	17595805		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16049973, 17896178		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	17595805		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	17595805		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	27277113		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	25318605	Associate	★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	30761252	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	11986237, 27386562, 36475386, 36759259	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30456721		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20920350, 23154538, 24362509, 25132602, 25412303, 28288142		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	28288142		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	CTD_human_DG	21064136		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neural Tube Defects	Neural Tube Defect	BEFREE	11386852, 22903727, 28411382, 28762673		★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural tube defect	Pubtator	22903727	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	37796681	Associate	★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	24419221		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	22292074	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	25066213		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	16049973		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	18381459, 30755243		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18381459, 25066213	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	29474406	Associate	★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	27277113		★☆☆☆☆ Found in Text Mining only
Papilledema	Papilledema	BEFREE	31415055		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25648260, 26438087		★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 1	Hyperoxaluria	Pubtator	24419221	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	20852008, 23724740		★☆☆☆☆ Found in Text Mining only
Reticulosarcoma	Reticulosarcoma	CTD_human_DG	17119116		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20977478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20977478		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	22044939		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17206530		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	17206530		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	16006999, 22051736		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	27277113	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	27277113	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	24390667	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Calcification	Vascular calcification	Pubtator	30071536	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26316272	Associate	★☆☆☆☆ Found in Text Mining only