UniProtKB - P11586 (C1TC_HUMAN)
Protein
C-1-tetrahydrofolate synthase, cytoplasmic
Gene
MTHFD1
Organism
Homo sapiens (Human)
Status
Functioni
Catalytic activityi
: tetrahydrofolate interconversion Pathwayi
This protein is involved in the pathway tetrahydrofolate interconversion, which is part of One-carbon metabolism.View all proteins of this organism that are known to be involved in the pathway tetrahydrofolate interconversion and in One-carbon metabolism.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Binding sitei | 197 | NADP1 Publication | 1 |
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 172 – 174 | NADP1 Publication | 3 | |
Nucleotide bindingi | 380 – 387 | ATPBy similarity | 8 |
GO - Molecular functioni
- ATP binding Source: UniProtKB-KW
- formate-tetrahydrofolate ligase activity Source: BHF-UCL
- methenyltetrahydrofolate cyclohydrolase activity Source: BHF-UCL
- methylenetetrahydrofolate dehydrogenase (NAD+) activity Source: BHF-UCL
- methylenetetrahydrofolate dehydrogenase (NADP+) activity Source: GO_Central
- methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity Source: BHF-UCL
GO - Biological processi
- 10-formyltetrahydrofolate biosynthetic process Source: BHF-UCL
- embryonic neurocranium morphogenesis Source: BHF-UCL
- embryonic viscerocranium morphogenesis Source: BHF-UCL
- folic acid metabolic process Source: Reactome
- heart development Source: BHF-UCL
- histidine biosynthetic process Source: UniProtKB-KW
- methionine biosynthetic process Source: BHF-UCL
- methionine metabolic process Source: BHF-UCL
- neural tube closure Source: BHF-UCL
- one-carbon metabolic process Source: BHF-UCL
- purine nucleotide biosynthetic process Source: BHF-UCL
- serine family amino acid biosynthetic process Source: BHF-UCL
- serine family amino acid metabolic process Source: BHF-UCL
- somite development Source: BHF-UCL
- tetrahydrofolate interconversion Source: BHF-UCL
Keywordsi
Molecular function | Hydrolase, Ligase, Multifunctional enzyme, Oxidoreductase |
Biological process | Amino-acid biosynthesis, Histidine biosynthesis, Methionine biosynthesis, One-carbon metabolism, Purine biosynthesis |
Ligand | ATP-binding, NADP, Nucleotide-binding |
Enzyme and pathway databases
BioCyci | MetaCyc:HS02138-MONOMER |
BRENDAi | 1.5.1.5, 2681 3.5.4.9, 2681 6.3.4.3, 2681 |
PathwayCommonsi | P11586 |
Reactomei | R-HSA-196757, Metabolism of folate and pterines |
UniPathwayi | UPA00193 |
Names & Taxonomyi
Protein namesi | Recommended name: C-1-tetrahydrofolate synthase, cytoplasmicShort name: C1-THF synthase Cleaved into the following chain: Including the following 3 domains: |
Gene namesi | Name:MTHFD1 Synonyms:MTHFC, MTHFD |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:7432, MTHFD1 |
MIMi | 172460, gene+phenotype |
neXtProti | NX_P11586 |
VEuPathDBi | HostDB:ENSG00000100714.15 |
Subcellular locationi
Cytoplasm and Cytosol
Cytosol
- cytosol Source: HPA
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Mitochondrion
- mitochondrion Source: ProtInc
Other locations
- membrane Source: UniProtKB
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Involvement in diseasei
Neural tube defects, folate-sensitive (NTDFS)3 Publications
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Disease descriptionThe most common NTDs are open spina bifida (myelomeningocele) and anencephaly.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_010241 | 293 | R → H in NTDFS; associated with disease susceptibility. Corresponds to variant dbSNP:rs34181110EnsemblClinVar. | 1 | |
Natural variantiVAR_010251 | 653 | R → Q in NTDFS; associated with disease susceptibility; increases risk for congenital heart defects; decreases enzyme stability. 5 PublicationsCorresponds to variant dbSNP:rs2236225EnsemblClinVar. | 1 |
Colorectal cancer (CRC)1 Publication
Disease susceptibility may be associated with variants affecting the gene represented in this entry.
Disease descriptionA complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
Related information in OMIMCombined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia (CIMAH)3 Publications
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder due to an inborn error of folate metabolism. Variable clinical manifestations include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, and lymphopenia.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074075 | 49 | S → F in CIMAH. 1 PublicationCorresponds to variant dbSNP:rs370444838EnsemblClinVar. | 1 | |
Natural variantiVAR_080873 | 51 | L → P in CIMAH. 1 PublicationCorresponds to variant dbSNP:rs1555336810EnsemblClinVar. | 1 | |
Natural variantiVAR_074076 | 173 | R → C in CIMAH. 1 PublicationCorresponds to variant dbSNP:rs141210410EnsemblClinVar. | 1 | |
Natural variantiVAR_080874 | 225 – 935 | Missing in CIMAH. 1 PublicationAdd BLAST | 711 | |
Natural variantiVAR_074077 | 269 | T → I in CIMAH. 1 PublicationCorresponds to variant dbSNP:rs1555337681EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 49 | S → A: No effect on dehydrogenase and cyclohydrolase activity. Strong increase of Km for NADP. 1 Publication | 1 | |
Mutagenesisi | 49 | S → Q: Reduces dehydrogenase by 75% and cyclohydrolase activity by 99%. No effect on Km for NADP and for 5,10-methenyltetrahydrofolate. 1 Publication | 1 | |
Mutagenesisi | 52 | Y → A or S: Reduces dehydrogenase activity by 99%. Reduces cyclohydrolase activity by 70%. No effect on Km for NADP and for 5,10-methenyltetrahydrofolate. 1 Publication | 1 | |
Mutagenesisi | 52 | Y → F: Slightly reduces dehydrogenase and cyclohydrolase activity. Increase of Km for NADP and for 5,10-methenyltetrahydrofolate. 1 Publication | 1 | |
Mutagenesisi | 56 | K → A, I, S or T: Decreases dehydrogenase activity over 90%. Loss of cyclohydrolase activity. 1 Publication | 1 | |
Mutagenesisi | 56 | K → E, M or Q: Moderate decrease of dehydrogenase activity. Loss of cyclohydrolase activity. Strong increase of Km for NADP. Decrease of Km for 5,10-methenyltetrahydrofolate. 1 Publication | 1 | |
Mutagenesisi | 56 | K → R: Reduces dehydrogenase and cyclohydrolase activity by 99%. No effect on Km for NADP and for 5,10-methenyltetrahydrofolate. 1 Publication | 1 | |
Mutagenesisi | 147 | C → Q: Reduces dehydrogenase activity by 50% and cyclohydrolase activity by 87%. 1 Publication | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 4522 |
MalaCardsi | MTHFD1 |
MIMi | 114500, phenotype 172460, gene+phenotype 601634, phenotype 617780, phenotype |
Orphaneti | 268392, Cervical spina bifida aperta 268762, Cervical spina bifida cystica 268397, Cervicothoracic spina bifida aperta 268766, Cervicothoracic spina bifida cystica 268388, Lumbosacral spina bifida aperta 268758, Lumbosacral spina bifida cystica 268384, Thoracolumbosacral spina bifida aperta 268752, Thoracolumbosacral spina bifida cystica 268377, Total spina bifida aperta 268748, Total spina bifida cystica 268740, Upper thoracic spina bifida aperta 268770, Upper thoracic spina bifida cystica |
PharmGKBi | PA31236 |
Miscellaneous databases
Pharosi | P11586, Tbio |
Chemistry databases
ChEMBLi | CHEMBL2541 |
DrugBanki | DB04322, LY249543 DB02358, LY374571 DB00157, NADH DB03461, Nicotinamide adenine dinucleotide phosphate DB00116, Tetrahydrofolic acid |
Genetic variation databases
BioMutai | MTHFD1 |
DMDMi | 115206 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000423280 | 1 – 935 | C-1-tetrahydrofolate synthase, cytoplasmicAdd BLAST | 935 | |
Initiator methioninei | Removed; alternate3 Publications | |||
ChainiPRO_0000199321 | 2 – 935 | C-1-tetrahydrofolate synthase, cytoplasmic, N-terminally processedAdd BLAST | 934 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources | 1 | |
Modified residuei | 318 | PhosphoserineCombined sources | 1 | |
Modified residuei | 413 | PhosphoserineCombined sources | 1 | |
Modified residuei | 490 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
CPTACi | CPTAC-407 CPTAC-408 |
EPDi | P11586 |
jPOSTi | P11586 |
MassIVEi | P11586 |
MaxQBi | P11586 |
PaxDbi | P11586 |
PeptideAtlasi | P11586 |
PRIDEi | P11586 |
ProteomicsDBi | 32586 52794 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00218342 |
SWISS-2DPAGEi | P11586 |
PTM databases
iPTMneti | P11586 |
MetOSitei | P11586 |
PhosphoSitePlusi | P11586 |
SwissPalmi | P11586 |
Expressioni
Tissue specificityi
Ubiquitous.
Gene expression databases
Bgeei | ENSG00000100714, Expressed in right lobe of liver and 244 other tissues |
ExpressionAtlasi | P11586, baseline and differential |
Genevisiblei | P11586, HS |
Organism-specific databases
HPAi | ENSG00000100714, Tissue enriched (liver) |
Interactioni
Subunit structurei
Homodimer.
1 PublicationBinary interactionsi
P11586
With | #Exp. | IntAct |
---|---|---|
Q9WMX2 from Hepatitis C virus genotype 1b (isolate Con1). | 3 | EBI-709638,EBI-710918 |
Protein-protein interaction databases
BioGRIDi | 110622, 143 interactors |
DIPi | DIP-33682N |
IntActi | P11586, 39 interactors |
MINTi | P11586 |
STRINGi | 9606.ENSP00000216605 |
Chemistry databases
BindingDBi | P11586 |
Miscellaneous databases
RNActi | P11586, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | P11586 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | P11586 |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 2 – 305 | Methylenetetrahydrofolate dehydrogenase and cyclohydrolaseAdd BLAST | 304 | |
Regioni | 52 – 56 | Substrate binding | 5 | |
Regioni | 99 – 101 | Substrate binding | 3 | |
Regioni | 272 – 276 | Substrate binding | 5 | |
Regioni | 306 – 935 | Formyltetrahydrofolate synthetaseAdd BLAST | 630 |
Domaini
This trifunctional enzyme consists of two major domains: an N-terminal part containing the methylene-THF dehydrogenase and cyclohydrolase activities and a larger C-terminal part containing formyl-THF synthetase activity.
Sequence similaritiesi
In the N-terminal section; belongs to the tetrahydrofolate dehydrogenase/cyclohydrolase family.Curated
In the C-terminal section; belongs to the formate--tetrahydrofolate ligase family.Curated
Phylogenomic databases
eggNOGi | KOG4230, Eukaryota |
HOGENOMi | CLU_034045_3_0_1 |
InParanoidi | P11586 |
OMAi | KVDTYTK |
OrthoDBi | 690393at2759 |
PhylomeDBi | P11586 |
TreeFami | TF300623 |
Family and domain databases
CDDi | cd01080, NAD_bind_m-THF_DH_Cyclohyd, 1 hit |
HAMAPi | MF_01543, FTHFS, 1 hit MF_01576, THF_DHG_CYH, 1 hit |
InterProi | View protein in InterPro IPR000559, Formate_THF_ligase IPR020628, Formate_THF_ligase_CS IPR036291, NAD(P)-bd_dom_sf IPR027417, P-loop_NTPase IPR000672, THF_DH/CycHdrlase IPR020630, THF_DH/CycHdrlase_cat_dom IPR020867, THF_DH/CycHdrlase_CS IPR020631, THF_DH/CycHdrlase_NAD-bd_dom |
Pfami | View protein in Pfam PF01268, FTHFS, 1 hit PF00763, THF_DHG_CYH, 1 hit PF02882, THF_DHG_CYH_C, 1 hit |
PRINTSi | PR00085, THFDHDRGNASE |
SUPFAMi | SSF51735, SSF51735, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00721, FTHFS_1, 1 hit PS00722, FTHFS_2, 1 hit PS00766, THF_DHG_CYH_1, 1 hit PS00767, THF_DHG_CYH_2, 1 hit |
(1+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry has 1 described isoform and 7 potential isoforms that are computationally mapped.Show allAlign All
P11586-1 [UniParc]FASTAAdd to basket
10 20 30 40 50
MAPAEILNGK EISAQIRARL KNQVTQLKEQ VPGFTPRLAI LQVGNRDDSN
60 70 80 90 100
LYINVKLKAA EEIGIKATHI KLPRTTTESE VMKYITSLNE DSTVHGFLVQ
110 120 130 140 150
LPLDSENSIN TEEVINAIAP EKDVDGLTSI NAGRLARGDL NDCFIPCTPK
160 170 180 190 200
GCLELIKETG VPIAGRHAVV VGRSKIVGAP MHDLLLWNNA TVTTCHSKTA
210 220 230 240 250
HLDEEVNKGD ILVVATGQPE MVKGEWIKPG AIVIDCGINY VPDDKKPNGR
260 270 280 290 300
KVVGDVAYDE AKERASFITP VPGGVGPMTV AMLMQSTVES AKRFLEKFKP
310 320 330 340 350
GKWMIQYNNL NLKTPVPSDI DISRSCKPKP IGKLAREIGL LSEEVELYGE
360 370 380 390 400
TKAKVLLSAL ERLKHRPDGK YVVVTGITPT PLGEGKSTTT IGLVQALGAH
410 420 430 440 450
LYQNVFACVR QPSQGPTFGI KGGAAGGGYS QVIPMEEFNL HLTGDIHAIT
460 470 480 490 500
AANNLVAAAI DARIFHELTQ TDKALFNRLV PSVNGVRRFS DIQIRRLKRL
510 520 530 540 550
GIEKTDPTTL TDEEINRFAR LDIDPETITW QRVLDTNDRF LRKITIGQAP
560 570 580 590 600
TEKGHTRTAQ FDISVASEIM AVLALTTSLE DMRERLGKMV VASSKKGEPV
610 620 630 640 650
SAEDLGVSGA LTVLMKDAIK PNLMQTLEGT PVFVHAGPFA NIAHGNSSII
660 670 680 690 700
ADRIALKLVG PEGFVVTEAG FGADIGMEKF FNIKCRYSGL CPHVVVLVAT
710 720 730 740 750
VRALKMHGGG PTVTAGLPLP KAYIQENLEL VEKGFSNLKK QIENARMFGI
760 770 780 790 800
PVVVAVNAFK TDTESELDLI SRLSREHGAF DAVKCTHWAE GGKGALALAQ
810 820 830 840 850
AVQRAAQAPS SFQLLYDLKL PVEDKIRIIA QKIYGADDIE LLPEAQHKAE
860 870 880 890 900
VYTKQGFGNL PICMAKTHLS LSHNPEQKGV PTGFILPIRD IRASVGAGFL
910 920 930
YPLVGTMSTM PGLPTRPCFY DIDLDPETEQ VNGLF
Computationally mapped potential isoform sequencesi
There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF5H2F4 | F5H2F4_HUMAN | C-1-tetrahydrofolate synthase, cyto... | MTHFD1 | 964 | Annotation score: | ||
A0A384N5Y3 | A0A384N5Y3_HUMAN | C-1-tetrahydrofolate synthase, cyto... | MTHFD1 | 935 | Annotation score: | ||
V9GYY3 | V9GYY3_HUMAN | C-1-tetrahydrofolate synthase, cyto... | MTHFD1 | 922 | Annotation score: | ||
V9GZ78 | V9GZ78_HUMAN | C-1-tetrahydrofolate synthase, cyto... | MTHFD1 | 854 | Annotation score: | ||
A0A494C1T2 | A0A494C1T2_HUMAN | C-1-tetrahydrofolate synthase, cyto... | MTHFD1 | 644 | Annotation score: | ||
V9GY75 | V9GY75_HUMAN | C-1-tetrahydrofolate synthase, cyto... | MTHFD1 | 68 | Annotation score: | ||
V9GZ32 | V9GZ32_HUMAN | C-1-tetrahydrofolate synthase, cyto... | MTHFD1 | 23 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_074075 | 49 | S → F in CIMAH. 1 PublicationCorresponds to variant dbSNP:rs370444838EnsemblClinVar. | 1 | |
Natural variantiVAR_080873 | 51 | L → P in CIMAH. 1 PublicationCorresponds to variant dbSNP:rs1555336810EnsemblClinVar. | 1 | |
Natural variantiVAR_016232 | 134 | R → K Associated with increased risk of colorectal cancer. Combined sources3 PublicationsCorresponds to variant dbSNP:rs1950902Ensembl. | 1 | |
Natural variantiVAR_055458 | 162 | P → L. Corresponds to variant dbSNP:rs4902283Ensembl. | 1 | |
Natural variantiVAR_074076 | 173 | R → C in CIMAH. 1 PublicationCorresponds to variant dbSNP:rs141210410EnsemblClinVar. | 1 | |
Natural variantiVAR_080874 | 225 – 935 | Missing in CIMAH. 1 PublicationAdd BLAST | 711 | |
Natural variantiVAR_074077 | 269 | T → I in CIMAH. 1 PublicationCorresponds to variant dbSNP:rs1555337681EnsemblClinVar. | 1 | |
Natural variantiVAR_010241 | 293 | R → H in NTDFS; associated with disease susceptibility. Corresponds to variant dbSNP:rs34181110EnsemblClinVar. | 1 | |
Natural variantiVAR_010251 | 653 | R → Q in NTDFS; associated with disease susceptibility; increases risk for congenital heart defects; decreases enzyme stability. 5 PublicationsCorresponds to variant dbSNP:rs2236225EnsemblClinVar. | 1 | |
Natural variantiVAR_032789 | 761 | T → M. Corresponds to variant dbSNP:rs10813Ensembl. | 1 | |
Natural variantiVAR_032790 | 769 | L → F1 PublicationCorresponds to variant dbSNP:rs17857382EnsemblClinVar. | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J04031 mRNA Translation: AAA59574.1 AK312361 mRNA Translation: BAG35279.1 AL122035 Genomic DNA No translation available. CH471061 Genomic DNA Translation: EAW80857.1 BC001014 mRNA Translation: AAH01014.2 BC009806 mRNA Translation: AAH09806.1 BC050420 mRNA Translation: AAH50420.1 |
CCDSi | CCDS9763.1 |
PIRi | A31903 |
RefSeqi | NP_005947.3, NM_005956.3 |
Genome annotation databases
Ensembli | ENST00000555709; ENSP00000450560; ENSG00000100714 |
GeneIDi | 4522 |
KEGGi | hsa:4522 |
UCSCi | uc001xhb.4, human |
Similar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | J04031 mRNA Translation: AAA59574.1 AK312361 mRNA Translation: BAG35279.1 AL122035 Genomic DNA No translation available. CH471061 Genomic DNA Translation: EAW80857.1 BC001014 mRNA Translation: AAH01014.2 BC009806 mRNA Translation: AAH09806.1 BC050420 mRNA Translation: AAH50420.1 |
CCDSi | CCDS9763.1 |
PIRi | A31903 |
RefSeqi | NP_005947.3, NM_005956.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1A4I | X-ray | 1.50 | A/B | 1-301 | [»] | |
1DIA | X-ray | 2.20 | A/B | 1-306 | [»] | |
1DIB | X-ray | 2.70 | A/B | 1-306 | [»] | |
1DIG | X-ray | 2.20 | A/B | 1-306 | [»] | |
6ECP | X-ray | 2.20 | A/B | 1-306 | [»] | |
6ECQ | X-ray | 2.70 | A/B | 1-296 | [»] | |
6ECR | X-ray | 2.20 | A/B | 1-296 | [»] | |
SMRi | P11586 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 110622, 143 interactors |
DIPi | DIP-33682N |
IntActi | P11586, 39 interactors |
MINTi | P11586 |
STRINGi | 9606.ENSP00000216605 |
Chemistry databases
BindingDBi | P11586 |
ChEMBLi | CHEMBL2541 |
DrugBanki | DB04322, LY249543 DB02358, LY374571 DB00157, NADH DB03461, Nicotinamide adenine dinucleotide phosphate DB00116, Tetrahydrofolic acid |
PTM databases
iPTMneti | P11586 |
MetOSitei | P11586 |
PhosphoSitePlusi | P11586 |
SwissPalmi | P11586 |
Genetic variation databases
BioMutai | MTHFD1 |
DMDMi | 115206 |
2D gel databases
REPRODUCTION-2DPAGEi | IPI00218342 |
SWISS-2DPAGEi | P11586 |
Proteomic databases
CPTACi | CPTAC-407 CPTAC-408 |
EPDi | P11586 |
jPOSTi | P11586 |
MassIVEi | P11586 |
MaxQBi | P11586 |
PaxDbi | P11586 |
PeptideAtlasi | P11586 |
PRIDEi | P11586 |
ProteomicsDBi | 32586 52794 |
Protocols and materials databases
ABCDi | P11586, 1 sequenced antibody |
DNASUi | 4522 |
Genome annotation databases
Ensembli | ENST00000555709; ENSP00000450560; ENSG00000100714 |
GeneIDi | 4522 |
KEGGi | hsa:4522 |
UCSCi | uc001xhb.4, human |
Organism-specific databases
CTDi | 4522 |
DisGeNETi | 4522 |
GeneCardsi | MTHFD1 |
HGNCi | HGNC:7432, MTHFD1 |
HPAi | ENSG00000100714, Tissue enriched (liver) |
MalaCardsi | MTHFD1 |
MIMi | 114500, phenotype 172460, gene+phenotype 601634, phenotype 617780, phenotype |
neXtProti | NX_P11586 |
Orphaneti | 268392, Cervical spina bifida aperta 268762, Cervical spina bifida cystica 268397, Cervicothoracic spina bifida aperta 268766, Cervicothoracic spina bifida cystica 268388, Lumbosacral spina bifida aperta 268758, Lumbosacral spina bifida cystica 268384, Thoracolumbosacral spina bifida aperta 268752, Thoracolumbosacral spina bifida cystica 268377, Total spina bifida aperta 268748, Total spina bifida cystica 268740, Upper thoracic spina bifida aperta 268770, Upper thoracic spina bifida cystica |
PharmGKBi | PA31236 |
VEuPathDBi | HostDB:ENSG00000100714.15 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4230, Eukaryota |
HOGENOMi | CLU_034045_3_0_1 |
InParanoidi | P11586 |
OMAi | KVDTYTK |
OrthoDBi | 690393at2759 |
PhylomeDBi | P11586 |
TreeFami | TF300623 |
Enzyme and pathway databases
UniPathwayi | UPA00193 |
BioCyci | MetaCyc:HS02138-MONOMER |
BRENDAi | 1.5.1.5, 2681 3.5.4.9, 2681 6.3.4.3, 2681 |
PathwayCommonsi | P11586 |
Reactomei | R-HSA-196757, Metabolism of folate and pterines |
Miscellaneous databases
BioGRID-ORCSi | 4522, 177 hits in 1006 CRISPR screens |
ChiTaRSi | MTHFD1, human |
EvolutionaryTracei | P11586 |
GeneWikii | MTHFD1 |
GenomeRNAii | 4522 |
Pharosi | P11586, Tbio |
PROi | PR:P11586 |
RNActi | P11586, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000100714, Expressed in right lobe of liver and 244 other tissues |
ExpressionAtlasi | P11586, baseline and differential |
Genevisiblei | P11586, HS |
Family and domain databases
CDDi | cd01080, NAD_bind_m-THF_DH_Cyclohyd, 1 hit |
HAMAPi | MF_01543, FTHFS, 1 hit MF_01576, THF_DHG_CYH, 1 hit |
InterProi | View protein in InterPro IPR000559, Formate_THF_ligase IPR020628, Formate_THF_ligase_CS IPR036291, NAD(P)-bd_dom_sf IPR027417, P-loop_NTPase IPR000672, THF_DH/CycHdrlase IPR020630, THF_DH/CycHdrlase_cat_dom IPR020867, THF_DH/CycHdrlase_CS IPR020631, THF_DH/CycHdrlase_NAD-bd_dom |
Pfami | View protein in Pfam PF01268, FTHFS, 1 hit PF00763, THF_DHG_CYH, 1 hit PF02882, THF_DHG_CYH_C, 1 hit |
PRINTSi | PR00085, THFDHDRGNASE |
SUPFAMi | SSF51735, SSF51735, 1 hit SSF52540, SSF52540, 1 hit |
PROSITEi | View protein in PROSITE PS00721, FTHFS_1, 1 hit PS00722, FTHFS_2, 1 hit PS00766, THF_DHG_CYH_1, 1 hit PS00767, THF_DHG_CYH_2, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | C1TC_HUMAN | |
Accessioni | P11586Primary (citable) accession number: P11586 Secondary accession number(s): B2R5Y2 Q9BVP5 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 1, 1989 |
Last sequence update: | January 23, 2007 | |
Last modified: | April 7, 2021 | |
This is version 233 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 14
Human chromosome 14: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PATHWAY comments
Index of metabolic and biosynthesis pathways - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families