2. Gene
  3. SHMT1 - serine hydroxymethyltransferase 1 Gene

SHMT1 - serine hydroxymethyltransferase 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：丝氨酸羟甲基转移酶 1

种属: Homo sapiens

同用名: SHMT; CSHMT

基因 ID: 6470 | 基因类型: protein coding

关于 SHMT1

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:18,327,873-18,363,550 (from NCBI)

This gene has 10 transcripts (splice variants), 1 gene allele, 208 orthologues and 1 paralogue. Biased expression in kidney (RPKM 121.9), liver (RPKM 84.9) and 13 other tissues.

功能概要

该基因编码胞质形式的丝氨酸羟甲基转移酶，这是一种含磷酸吡哆醛的酶，可催化丝氨酸和四氢叶酸向甘氨酸和 5,10-亚甲基四氢叶酸的可逆转化。该反应为细胞质中甲硫氨酸、胸苷酸和嘌呤的合成提供了一个碳单元。该基因位于 17 号染色体上的 Smith-Magenis 综合征区域内。该基因的假基因位于 1 号染色体的短臂上。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 8 月]

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 one-carbon units for synthesis of methionine, thymidylate, and purines in the cytoplasm. This gene is located within the Smith-Magenis syndrome region on chromosome 17. A pseudogene of this gene is located on the short arm of chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

SHMT1 基因产物(3)

mRNA Protein Name
NM_001281786.2 NP_001268715.1 serine hydroxymethyltransferase, cytosolic isoform 3
NM_004169.5 NP_004160.3 serine hydroxymethyltransferase, cytosolic isoform 1
NM_148918.3 NP_683718.1 serine hydroxymethyltransferase, cytosolic isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables aldehyde-lyase activity EXP
EXP: 通过实验结果推断
3110140 GOA
enables glycine hydroxymethyltransferase activity IDA
IDA: 通过直接分析推断
8505317 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables mRNA 5'-UTR binding IDA
IDA: 通过直接分析推断
10995219 GOA
enables mRNA regulatory element binding translation repressor activity IDA
IDA: 通过直接分析推断
10995219 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25416956 GOA
enables protein homodimerization activity IDA
IDA: 通过直接分析推断
9753690 GOA
enables pyridoxal phosphate binding IDA
IDA: 通过直接分析推断
17482557 GOA
enables serine binding IDA
IDA: 通过直接分析推断
24698160 GOA
enables small molecule binding IPI
IPI: 通过物理相互作用推断
24698160 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in L-serine catabolic process IDA
IDA: 通过直接分析推断
17482557 GOA
involved in L-serine metabolic process IDA
IDA: 通过直接分析推断
24698160 GOA
involved in cellular response to tetrahydrofolate IDA
IDA: 通过直接分析推断
24698160 GOA
involved in folic acid metabolic process IDA
IDA: 通过直接分析推断
11278996 GOA
involved in glycine metabolic process IDA
IDA: 通过直接分析推断
24698160 GOA
involved in negative regulation of translation IDA
IDA: 通过直接分析推断
10995219 GOA
involved in protein homotetramerization IDA
IDA: 通过直接分析推断
24698160 GOA
involved in purine nucleobase biosynthetic process IDA
IDA: 通过直接分析推断
11516159 GOA
involved in tetrahydrofolate interconversion IDA
IDA: 通过直接分析推断
24698160 GOA
involved in tetrahydrofolate metabolic process IDA
IDA: 通过直接分析推断
24698160 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
17482557 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

SHMT1 蛋白结构

SHMT

SHMT: Serine hydroxymethyltransferase (26 - 425)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 483 a.a.
蛋白主名 其他名称

serine hydroxymethyltransferase, cytosolic

cytoplasmic serine hydroxymethyltransferase

SHMT1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
SHMT1 P34896 SULT1A3 Homo sapiens P0DMM9
Validated Y2H
25416956
种属内
SHMT1 P34896 IDH3A Homo sapiens P50213
Confocal
30613765
种属内
SHMT1 P34896 IDH3A Homo sapiens P50213
Anti Bait CoIP
30613765
种属内
SHMT1 P34896 MAPK9 Homo sapiens P45984
Y2H Array
25416956
种属内
SHMT1 P34896 MAPK9 Homo sapiens P45984
Validated Y2H
25416956
种属内
SHMT1 P34896 MAPK9 Homo sapiens P45984
Validated Y2H
32296183
种属内
SHMT1 P34896 MAPK9 Homo sapiens P45984
Y2H Array
31515488
种属内
SHMT1 P34896 MAPK9 Homo sapiens P45984
Y2H Prey Pooling
25416956
种属内
SHMT1 P34896 MDFI Homo sapiens Q99750
Validated Y2H
32296183
种属内
SHMT1 P34896 GORASP2 Homo sapiens Q9H8Y8
Validated Y2H
32296183
种属内
SHMT1 P34896 MDFI Homo sapiens Q99750
Y2H Prey Pooling
32296183
种属内
SHMT1 P34896 SHMT1 Homo sapiens P34896
Y2H Prey Pooling
32296183
种属内
SHMT1 P34896 SHMT1 Homo sapiens P34896
Validated Y2H
32296183
种属内
SHMT1 P34896 SHMT1 Homo sapiens P34896
Y2H Array
25416956
种属内
SHMT1 P34896 MDFI Homo sapiens Q99750
Y2H Array
32296183
种属内
SHMT1 P34896 SHMT1 Homo sapiens P34896
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 SHMT1 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70973 SHMT1 Protein, Human (HEK293, His) AAH07979.1 (M3-F483) ≥95%

关联疾病

疾病名称 别名
Adult Acute Lymphocytic Leukemia

Adult Acute Lymphoid Leukemia

Adult All
Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
Serine Deficiency
Lacrimal Gland Carcinoma

Lacrimal Gland Cancer

Carcinoma Of The Lacrimal Gland

Malignant Neoplasm Of Lacrimal Gland

Malignant Tumour Of Lacrimal Gland

Neoplasm Of Lacrimal Gland

Tumor Of The Lacrimal Gland

Malignant Tumor Of Lacrimal Gland
Cutis Laxa, Autosomal Dominant 1

Cutis Laxa, Autosomal Dominant

Autosomal Dominant Cutis Laxa

ADCL1

Adcl

Autosomal Dominant Cutis Laxa 1

Cutis Laxa, Autosomal Dominant, 1

Cutis Laxa, Autosomal Dominant, Type 1
Lacrimal Gland Adenoid Cystic Carcinoma

Adenoid Cystic Carcinoma Of Lacrimal Gland
Lacrimal Gland Adenocarcinoma

Adenocarcinoma Of Lacrimal Gland
Spinocerebellar Ataxia, Autosomal Recessive 7

SCAR7

Autosomal Recessive Spinocerebellar Ataxia 7

Spinocerebellar Ataxia Autosomal Recessive 7

Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia

Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia

Autosomal Recessive Spinocerebellar Ataxia Type 7

Spinocerebellar Ataxia, Autosomal Recessive, 7

Ataxia, Spinocerebellar, Autosomal Recessive, Type 7
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon
Glycine Encephalopathy

Non-Ketotic Hyperglycinemia

Nonketotic Hyperglycinemia

NKH

GCE

Hyperglycinemia, Nonketotic

Hyperglycinemia Nonketotic

Infantile Glycine Encephalopathy

Encephalopathy, Glycine

Glycine Synthase Deficiency

Nka

Neonatal Glycine Encephalopathy

Classic Glycine Encephalopathy

Neonatal Nkh

Neonatal Non-Ketotic Hyperglycinemia

Infantile Nkh

Infantile Non-Ketotic Hyperglycinemia

Non-Ketotic Hyperglycinaemia

Glycine Cleavage Deficiency

Nonketotic Hyperglycinaemia
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-148545 SHMT-IN-3 Inhibitor / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus SHMT1 VGNC VGNC:34603
Felis catus SHMT1 VGNC VGNC:65129
Rattus norvegicus SHMT1 RGD RGD:1312011
Canis familiaris SHMT1 VGNC VGNC:46150
Mus musculus SHMT1 MGD MGI:98299
Macaca mulatta SHMT1 VGNC VGNC:103864
Others SHMT1 NCBI
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