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Protein

C-1-tetrahydrofolate synthase, cytoplasmic

Gene

MTHFD1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalytic activityi

5,10-methylenetetrahydrofolate + NADP+ = 5,10-methenyltetrahydrofolate + NADPH.
5,10-methenyltetrahydrofolate + H2O = 10-formyltetrahydrofolate.
ATP + formate + tetrahydrofolate = ADP + phosphate + 10-formyltetrahydrofolate.

Pathwayi: tetrahydrofolate interconversion

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 keyPosition(s)DescriptionActionsGraphical viewLength
Binding sitei197NADP1 Publication1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi172 – 174NADP1 Publication3
Nucleotide bindingi380 – 387ATPBy similarity8

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Ligase, Oxidoreductase

Keywords - Biological processi

Amino-acid biosynthesis, Histidine biosynthesis, Methionine biosynthesis, One-carbon metabolism, Purine biosynthesis

Keywords - Ligandi

ATP-binding, NADP, Nucleotide-binding

Enzyme and pathway databases

BioCyciMetaCyc:HS02138-MONOMER.
ZFISH:HS02138-MONOMER.
BRENDAi1.5.1.5. 2681.
3.5.4.9. 2681.
6.3.4.3. 2681.
ReactomeiR-HSA-196757. Metabolism of folate and pterines.
UniPathwayiUPA00193.

Names & Taxonomyi

Protein namesi
Recommended name:
C-1-tetrahydrofolate synthase, cytoplasmic
Short name:
C1-THF synthase
Cleaved into the following chain:
Including the following 3 domains:
Methylenetetrahydrofolate dehydrogenase (EC:1.5.1.5)
Methenyltetrahydrofolate cyclohydrolase (EC:3.5.4.9)
Formyltetrahydrofolate synthetase (EC:6.3.4.3)
Gene namesi
Name:MTHFD1
Synonyms:MTHFC, MTHFD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:7432. MTHFD1.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: GO_Central
  • extracellular exosome Source: UniProtKB
  • membrane Source: UniProtKB
  • mitochondrion Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Neural tube defects, folate-sensitive (NTDFS)3 Publications
Disease susceptibility is associated with variations affecting the gene represented in this entry.
Disease descriptionThe most common NTDs are open spina bifida (myelomeningocele) and anencephaly.
See also OMIM:601634
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_010241293R → H in NTDFS; associated with disease susceptibility. Corresponds to variant rs34181110dbSNPEnsembl.1
Natural variantiVAR_010251653R → Q in NTDFS; associated with disease susceptibility; increases risk for congenital heart defects; decreases enzyme stability. 5 PublicationsCorresponds to variant rs2236225dbSNPEnsembl.1
Colorectal cancer (CRC)
Disease susceptibility may be associated with variations 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.
See also OMIM:114500

MTHFD1 deficiency, due to mutation in this gene, can cause a metabolic syndrome with variable features including hyperhomocysteinemia, megaloblastic anemia, hemolytic uremic syndrome (HUS), severe combined immunodeficiency, microangiopathy and retinopathy. Symptoms improve after treatment with hydroxocobalamin, betaine and folinic acid.

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi49S → A: No effect on dehydrogenase and cyclohydrolase activity. Strong increase of Km for NADP. 1 Publication1
Mutagenesisi49S → Q: Reduces dehydrogenase by 75% and cyclohydrolase activity by 99%. No effect on Km for NADP and for 5,10-methenyltetrahydrofolate. 1 Publication1
Mutagenesisi52Y → 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 Publication1
Mutagenesisi52Y → F: Slightly reduces dehydrogenase and cyclohydrolase activity. Increase of Km for NADP and for 5,10-methenyltetrahydrofolate. 1 Publication1
Mutagenesisi56K → A, I, S or T: Decreases dehydrogenase activity over 90%. Loss of cyclohydrolase activity. 1 Publication1
Mutagenesisi56K → 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 Publication1
Mutagenesisi56K → R: Reduces dehydrogenase and cyclohydrolase activity by 99%. No effect on Km for NADP and for 5,10-methenyltetrahydrofolate. 1 Publication1
Mutagenesisi147C → Q: Reduces dehydrogenase activity by 50% and cyclohydrolase activity by 87%. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi4522.
MalaCardsiMTHFD1.
MIMi114500. phenotype.
172460. gene+phenotype.
601634. phenotype.
Orphaneti268392. 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.
PharmGKBiPA31236.

Chemistry databases

ChEMBLiCHEMBL2541.
DrugBankiDB00116. Tetrahydrofolic acid.

Polymorphism and mutation databases

BioMutaiMTHFD1.
DMDMi115206.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00004232801 – 935C-1-tetrahydrofolate synthase, cytoplasmicAdd BLAST935
Initiator methionineiRemoved; alternate3 Publications
ChainiPRO_00001993212 – 935C-1-tetrahydrofolate synthase, cytoplasmic, N-terminally processedAdd BLAST934

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei318PhosphoserineCombined sources1
Modified residuei413PhosphoserineCombined sources1
Modified residuei490PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP11586.
MaxQBiP11586.
PaxDbiP11586.
PeptideAtlasiP11586.
PRIDEiP11586.

2D gel databases

REPRODUCTION-2DPAGEIPI00218342.
SWISS-2DPAGEP11586.

PTM databases

iPTMnetiP11586.
PhosphoSitePlusiP11586.
SwissPalmiP11586.

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000100714.
CleanExiHS_MTHFD1.
ExpressionAtlasiP11586. baseline and differential.
GenevisibleiP11586. HS.

Organism-specific databases

HPAiHPA000704.
HPA001290.
HPA015006.
HPA050052.

Interactioni

Subunit structurei

Homodimer.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
Q9WMX23EBI-709638,EBI-710918From a different organism.

Protein-protein interaction databases

BioGridi110622. 72 interactors.
DIPiDIP-33682N.
IntActiP11586. 15 interactors.
MINTiMINT-5000922.
STRINGi9606.ENSP00000450560.

Chemistry databases

BindingDBiP11586.

Structurei

Secondary structure

1935
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi9 – 30Combined sources22
Beta strandi37 – 44Combined sources8
Helixi47 – 63Combined sources17
Beta strandi66 – 72Combined sources7
Helixi78 – 90Combined sources13
Beta strandi96 – 99Combined sources4
Helixi111 – 116Combined sources6
Helixi120 – 122Combined sources3
Helixi129 – 136Combined sources8
Helixi147 – 157Combined sources11
Turni158 – 160Combined sources3
Beta strandi167 – 171Combined sources5
Turni175 – 177Combined sources3
Helixi178 – 187Combined sources10
Beta strandi191 – 195Combined sources5
Helixi202 – 206Combined sources5
Beta strandi210 – 214Combined sources5
Helixi224 – 226Combined sources3
Beta strandi232 – 235Combined sources4
Helixi258 – 261Combined sources4
Turni262 – 264Combined sources3
Beta strandi266 – 268Combined sources3
Beta strandi271 – 274Combined sources4
Helixi275 – 295Combined sources21

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1A4IX-ray1.50A/B1-301[»]
1DIAX-ray2.20A/B1-306[»]
1DIBX-ray2.70A/B1-306[»]
1DIGX-ray2.20A/B1-306[»]
ProteinModelPortaliP11586.
SMRiP11586.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP11586.

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni2 – 305Methylenetetrahydrofolate dehydrogenase and cyclohydrolaseAdd BLAST304
Regioni52 – 56Substrate binding5
Regioni99 – 101Substrate binding3
Regioni272 – 276Substrate binding5
Regioni306 – 935Formyltetrahydrofolate synthetaseAdd BLAST630

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

eggNOGiKOG4230. Eukaryota.
COG0190. LUCA.
COG2759. LUCA.
HOVERGENiHBG004916.
InParanoidiP11586.
KOiK00288.
PhylomeDBiP11586.
TreeFamiTF300623.

Family and domain databases

CDDicd00477. FTHFS. 1 hit.
Gene3Di3.40.50.300. 2 hits.
3.40.50.720. 1 hit.
HAMAPiMF_01543. FTHFS. 1 hit.
MF_01576. THF_DHG_CYH. 1 hit.
InterProiIPR000559. Formate_THF_ligase.
IPR020628. Formate_THF_ligase_CS.
IPR016040. NAD(P)-bd_dom.
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.
[Graphical view]
PfamiPF01268. FTHFS. 1 hit.
PF00763. THF_DHG_CYH. 1 hit.
PF02882. THF_DHG_CYH_C. 1 hit.
[Graphical view]
PRINTSiPR00085. THFDHDRGNASE.
SUPFAMiSSF51735. SSF51735. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEiPS00721. FTHFS_1. 1 hit.
PS00722. FTHFS_2. 1 hit.
PS00766. THF_DHG_CYH_1. 1 hit.
PS00767. THF_DHG_CYH_2. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

P11586-1 [UniParc]FASTAAdd to basket

« Hide

        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
Length:935
Mass (Da):101,559
Last modified:January 23, 2007 - v3
Checksum:i29AE1C04B4922885
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07407549S → F Found in patients with MTFDH1 deficiency; unknown pathological significance. 1 Publication1
Natural variantiVAR_016232134R → K Associated with increased risk of colorectal cancer. Combined sources3 PublicationsCorresponds to variant rs1950902dbSNPEnsembl.1
Natural variantiVAR_055458162P → L.Corresponds to variant rs4902283dbSNPEnsembl.1
Natural variantiVAR_074076173R → C Found in patients with MTFDH1 deficiency; unknown pathological significance. 1 Publication1
Natural variantiVAR_074077269T → I Found in patients with MTFDH1 deficiency. 1 Publication1
Natural variantiVAR_010241293R → H in NTDFS; associated with disease susceptibility. Corresponds to variant rs34181110dbSNPEnsembl.1
Natural variantiVAR_010251653R → Q in NTDFS; associated with disease susceptibility; increases risk for congenital heart defects; decreases enzyme stability. 5 PublicationsCorresponds to variant rs2236225dbSNPEnsembl.1
Natural variantiVAR_032789761T → M.Corresponds to variant rs10813dbSNPEnsembl.1
Natural variantiVAR_032790769L → F.1 PublicationCorresponds to variant rs17857382dbSNPEnsembl.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.
CCDSiCCDS9763.1.
PIRiA31903.
RefSeqiNP_005947.3. NM_005956.3.
UniGeneiHs.652308.

Genome annotation databases

EnsembliENST00000216605; ENSP00000216605; ENSG00000100714.
ENST00000555709; ENSP00000450560; ENSG00000100714.
GeneIDi4522.
KEGGihsa:4522.
UCSCiuc001xhb.4. human.

Keywords - Coding sequence diversityi

Polymorphism

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.
CCDSiCCDS9763.1.
PIRiA31903.
RefSeqiNP_005947.3. NM_005956.3.
UniGeneiHs.652308.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1A4IX-ray1.50A/B1-301[»]
1DIAX-ray2.20A/B1-306[»]
1DIBX-ray2.70A/B1-306[»]
1DIGX-ray2.20A/B1-306[»]
ProteinModelPortaliP11586.
SMRiP11586.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110622. 72 interactors.
DIPiDIP-33682N.
IntActiP11586. 15 interactors.
MINTiMINT-5000922.
STRINGi9606.ENSP00000450560.

Chemistry databases

BindingDBiP11586.
ChEMBLiCHEMBL2541.
DrugBankiDB00116. Tetrahydrofolic acid.

PTM databases

iPTMnetiP11586.
PhosphoSitePlusiP11586.
SwissPalmiP11586.

Polymorphism and mutation databases

BioMutaiMTHFD1.
DMDMi115206.

2D gel databases

REPRODUCTION-2DPAGEIPI00218342.
SWISS-2DPAGEP11586.

Proteomic databases

EPDiP11586.
MaxQBiP11586.
PaxDbiP11586.
PeptideAtlasiP11586.
PRIDEiP11586.

Protocols and materials databases

DNASUi4522.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216605; ENSP00000216605; ENSG00000100714.
ENST00000555709; ENSP00000450560; ENSG00000100714.
GeneIDi4522.
KEGGihsa:4522.
UCSCiuc001xhb.4. human.

Organism-specific databases

CTDi4522.
DisGeNETi4522.
GeneCardsiMTHFD1.
H-InvDBHIX0011731.
HGNCiHGNC:7432. MTHFD1.
HPAiHPA000704.
HPA001290.
HPA015006.
HPA050052.
MalaCardsiMTHFD1.
MIMi114500. phenotype.
172460. gene+phenotype.
601634. phenotype.
neXtProtiNX_P11586.
Orphaneti268392. 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.
PharmGKBiPA31236.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4230. Eukaryota.
COG0190. LUCA.
COG2759. LUCA.
HOVERGENiHBG004916.
InParanoidiP11586.
KOiK00288.
PhylomeDBiP11586.
TreeFamiTF300623.

Enzyme and pathway databases

UniPathwayiUPA00193.
BioCyciMetaCyc:HS02138-MONOMER.
ZFISH:HS02138-MONOMER.
BRENDAi1.5.1.5. 2681.
3.5.4.9. 2681.
6.3.4.3. 2681.
ReactomeiR-HSA-196757. Metabolism of folate and pterines.

Miscellaneous databases

ChiTaRSiMTHFD1. human.
EvolutionaryTraceiP11586.
GeneWikiiMTHFD1.
GenomeRNAii4522.
PROiP11586.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100714.
CleanExiHS_MTHFD1.
ExpressionAtlasiP11586. baseline and differential.
GenevisibleiP11586. HS.

Family and domain databases

CDDicd00477. FTHFS. 1 hit.
Gene3Di3.40.50.300. 2 hits.
3.40.50.720. 1 hit.
HAMAPiMF_01543. FTHFS. 1 hit.
MF_01576. THF_DHG_CYH. 1 hit.
InterProiIPR000559. Formate_THF_ligase.
IPR020628. Formate_THF_ligase_CS.
IPR016040. NAD(P)-bd_dom.
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.
[Graphical view]
PfamiPF01268. FTHFS. 1 hit.
PF00763. THF_DHG_CYH. 1 hit.
PF02882. THF_DHG_CYH_C. 1 hit.
[Graphical view]
PRINTSiPR00085. THFDHDRGNASE.
SUPFAMiSSF51735. SSF51735. 1 hit.
SSF52540. SSF52540. 2 hits.
PROSITEiPS00721. FTHFS_1. 1 hit.
PS00722. FTHFS_2. 1 hit.
PS00766. THF_DHG_CYH_1. 1 hit.
PS00767. THF_DHG_CYH_2. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiC1TC_HUMAN
AccessioniPrimary (citable) accession number: P11586
Secondary accession number(s): B2R5Y2
, G3V2B8, Q86VC9, Q9BVP5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 1, 1989
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 194 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Direct protein sequencing, Multifunctional enzyme, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.