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Protein

Cytosolic 10-formyltetrahydrofolate dehydrogenase

Gene

ALDH1L1

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

Functioni

Caution

The phosphoserine observed at Ser-354 in PubMed:24275569 may result from secondary neutral loss of pantetheine from the phosphodiester linked cofactor.Curated

Catalytic activityi

10-formyltetrahydrofolate + NADP+ + H2O = tetrahydrofolate + CO2 + NADPH.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei106Proton donorBy similarity1
Binding sitei142Substrate1
Sitei142Essential for catalytic activityBy similarity1
Active sitei673Proton acceptorPROSITE-ProRule annotation1
Active sitei707Proton donorBy similarity1
Binding sitei757NADPBy similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Nucleotide bindingi571 – 573NADPBy similarity3
Nucleotide bindingi597 – 600NADPBy similarity4
Nucleotide bindingi630 – 635NADPBy similarity6
Nucleotide bindingi650 – 651NADPBy similarity2
Nucleotide bindingi804 – 806NADPBy similarity3

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionOxidoreductase
Biological processOne-carbon metabolism
LigandNADP

Enzyme and pathway databases

BioCyciMetaCyc:HS07217-MONOMER
BRENDAi1.5.1.6 2681
ReactomeiR-HSA-196757 Metabolism of folate and pterines

Names & Taxonomyi

Protein namesi
Recommended name:
Cytosolic 10-formyltetrahydrofolate dehydrogenase (EC:1.5.1.6)
Short name:
10-FTHFDH
Short name:
FDH
Alternative name(s):
Aldehyde dehydrogenase family 1 member L1
Gene namesi
Name:ALDH1L1
Synonyms:FTHFD
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000144908.13
HGNCiHGNC:3978 ALDH1L1
MIMi600249 gene
neXtProtiNX_O75891

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Organism-specific databases

DisGeNETi10840
OpenTargetsiENSG00000144908
PharmGKBiPA28393

Chemistry databases

DrugBankiDB00116 Tetrahydrofolic acid

Polymorphism and mutation databases

BioMutaiALDH1L1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001994191 – 902Cytosolic 10-formyltetrahydrofolate dehydrogenaseAdd BLAST902

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei9PhosphoserineCombined sources1
Modified residuei38N6-succinyllysineBy similarity1
Modified residuei354O-(pantetheine 4'-phosphoryl)serine; alternatePROSITE-ProRule annotationCurated1
Modified residuei354Phosphoserine; alternateCombined sources1
Modified residuei629PhosphoserineCombined sources1
Modified residuei631PhosphoserineCombined sources1
Modified residuei660N6-succinyllysineBy similarity1
Modified residuei767N6-succinyllysineBy similarity1
Modified residuei825PhosphoserineCombined sources1
Modified residuei882N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphopantetheine, Phosphoprotein

Proteomic databases

EPDiO75891
MaxQBiO75891
PaxDbiO75891
PeptideAtlasiO75891
PRIDEiO75891
ProteomicsDBi50249

PTM databases

iPTMnetiO75891
PhosphoSitePlusiO75891

Expressioni

Tissue specificityi

Highly expressed in liver, pancreas and kidney.1 Publication

Gene expression databases

BgeeiENSG00000144908 Expressed in 200 organ(s), highest expression level in liver
CleanExiHS_ALDH1L1
ExpressionAtlasiO75891 baseline and differential
GenevisibleiO75891 HS

Organism-specific databases

HPAiHPA036900
HPA050139

Interactioni

Protein-protein interaction databases

BioGridi116052, 4 interactors
IntActiO75891, 4 interactors
MINTiO75891
STRINGi9606.ENSP00000377083

Structurei

Secondary structure

1902
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO75891
SMRiO75891
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO75891

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini318 – 395CarrierPROSITE-ProRule annotationAdd BLAST78

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 203GARTAdd BLAST203
Regioni88 – 90Substrate binding3
Regioni417 – 902Aldehyde dehydrogenaseAdd BLAST486

Sequence similaritiesi

In the N-terminal section; belongs to the GART family.Curated
In the C-terminal section; belongs to the aldehyde dehydrogenase family. ALDH1L subfamily.Curated

Phylogenomic databases

eggNOGiKOG2450 Eukaryota
COG1012 LUCA
GeneTreeiENSGT00760000118999
HOGENOMiHOG000006902
HOVERGENiHBG051668
InParanoidiO75891
KOiK00289
OMAiAMKIAVI
OrthoDBiEOG091G05E8
PhylomeDBiO75891
TreeFamiTF354242

Family and domain databases

Gene3Di1.10.1200.10, 1 hit
3.10.25.10, 1 hit
3.40.309.10, 1 hit
3.40.605.10, 1 hit
InterProiView protein in InterPro
IPR011407 10_FTHF_DH
IPR036736 ACP-like_sf
IPR016161 Ald_DH/histidinol_DH
IPR016163 Ald_DH_C
IPR016160 Ald_DH_CS_CYS
IPR029510 Ald_DH_CS_GLU
IPR016162 Ald_DH_N
IPR015590 Aldehyde_DH_dom
IPR005793 Formyl_trans_C
IPR037022 Formyl_trans_C_sf
IPR002376 Formyl_transf_N
IPR036477 Formyl_transf_N_sf
IPR011034 Formyl_transferase-like_C_sf
IPR001555 GART_AS
IPR009081 PP-bd_ACP
PfamiView protein in Pfam
PF00171 Aldedh, 1 hit
PF02911 Formyl_trans_C, 1 hit
PF00551 Formyl_trans_N, 1 hit
PF00550 PP-binding, 1 hit
PIRSFiPIRSF036489 10-FTHFDH, 1 hit
SUPFAMiSSF47336 SSF47336, 1 hit
SSF50486 SSF50486, 1 hit
SSF53328 SSF53328, 1 hit
SSF53720 SSF53720, 1 hit
PROSITEiView protein in PROSITE
PS00070 ALDEHYDE_DEHYDR_CYS, 1 hit
PS00687 ALDEHYDE_DEHYDR_GLU, 1 hit
PS50075 CARRIER, 1 hit
PS00373 GART, 1 hit

Sequences (4+)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 4 described isoforms and 6 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O75891-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG
60 70 80 90 100
VPVFKYSRWR AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH
110 120 130 140 150
GSIIYHPSLL PRHRGASAIN WTLIHGDKKG GFSIFWADDG LDTGDLLLQK
160 170 180 190 200
ECEVLPDDTV STLYNRFLFP EGIKGMVQAV RLIAEGKAPR LPQPEEGATY
210 220 230 240 250
EGIQKKETAK INWDQPAEAI HNWIRGNDKV PGAWTEACEQ KLTFFNSTLN
260 270 280 290 300
TSGLVPEGDA LPIPGAHRPG VVTKAGLILF GNDDKMLLVK NIQLEDGKMI
310 320 330 340 350
LASNFFKGAA SSVLELTEAE LVTAEAVRSV WQRILPKVLE VEDSTDFFKS
360 370 380 390 400
GAASVDVVRL VEEVKELCDG LELENEDVYM ASTFGDFIQL LVRKLRGDDE
410 420 430 440 450
EGECSIDYVE MAVNKRTVRM PHQLFIGGEF VDAEGAKTSE TINPTDGSVI
460 470 480 490 500
CQVSLAQVTD VDKAVAAAKD AFENGRWGKI SARDRGRLMY RLADLMEQHQ
510 520 530 540 550
EELATIEALD AGAVYTLALK THVGMSIQTF RYFAGWCDKI QGSTIPINQA
560 570 580 590 600
RPNRNLTLTR KEPVGVCGII IPWNYPLMML SWKTAACLAA GNTVVIKPAQ
610 620 630 640 650
VTPLTALKFA ELTLKAGIPK GVVNVLPGSG SLVGQRLSDH PDVRKIGFTG
660 670 680 690 700
STEVGKHIMK SCAISNVKKV SLELGGKSPL IIFADCDLNK AVQMGMSSVF
710 720 730 740 750
FNKGENCIAA GRLFVEDSIH DEFVRRVVEE VRKMKVGNPL DRDTDHGPQN
760 770 780 790 800
HHAHLVKLME YCQHGVKEGA TLVCGGNQVP RPGFFFEPTV FTDVEDHMFI
810 820 830 840 850
AKEESFGPVM IISRFADGDL DAVLSRANAT EFGLASGVFT RDINKALYVS
860 870 880 890 900
DKLQAGTVFV NTYNKTDVAA PFGGFKQSGF GKDLGEAALN EYLRVKTVTF

EY
Length:902
Mass (Da):98,829
Last modified:February 15, 2005 - v2
Checksum:iD92CB2930617F7CF
GO
Isoform 2 (identifier: O75891-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     118-218: Missing.

Note: No experimental confirmation available.
Show »
Length:801
Mass (Da):87,602
Checksum:i2749168F3D76D548
GO
Isoform 3 (identifier: O75891-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MAGPSNPPATM

Show »
Length:912
Mass (Da):99,753
Checksum:i4703ADF87C0467D9
GO
Isoform 4 (identifier: O75891-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     492-505: LADLMEQHQEELAT → APPSPSTRPDPTAT
     506-902: Missing.

Note: No experimental confirmation available.
Show »
Length:505
Mass (Da):55,394
Checksum:iF4D59683C0651699
GO

Computationally mapped potential isoform sequencesi

There are 6 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
C9IZ36C9IZ36_HUMAN
Cytosolic 10-formyltetrahydrofolate...
ALDH1L1
177Annotation score:
C9JYZ6C9JYZ6_HUMAN
Cytosolic 10-formyltetrahydrofolate...
ALDH1L1
168Annotation score:
C9JY00C9JY00_HUMAN
Cytosolic 10-formyltetrahydrofolate...
ALDH1L1
157Annotation score:
D6RFJ7D6RFJ7_HUMAN
Cytosolic 10-formyltetrahydrofolate...
ALDH1L1
100Annotation score:
F2Z324F2Z324_HUMAN
Aldehyde dehydrogenase 1 family mem...
ALDH1L1
47Annotation score:
F8WC34F8WC34_HUMAN
Cytosolic 10-formyltetrahydrofolate...
ALDH1L1
81Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti63G → A in AAC35000 (Ref. 1) Curated1
Sequence conflicti85F → S in AAC35000 (Ref. 1) Curated1
Sequence conflicti176M → V in AAC35000 (Ref. 1) Curated1
Sequence conflicti195E → K in AAC35000 (Ref. 1) Curated1
Sequence conflicti470D → G in AAC35000 (Ref. 1) Curated1
Sequence conflicti472F → L in BAG57647 (PubMed:14702039).Curated1
Sequence conflicti677K → E in AAC35000 (Ref. 1) Curated1
Sequence conflicti680L → F in AAC35000 (Ref. 1) Curated1
Sequence conflicti702N → S in AAC35000 (Ref. 1) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052290254L → P. Corresponds to variant dbSNP:rs3796191Ensembl.1
Natural variantiVAR_052291330V → F. Corresponds to variant dbSNP:rs2886059Ensembl.1
Natural variantiVAR_052292429E → A. Corresponds to variant dbSNP:rs9282691Ensembl.1
Natural variantiVAR_052293436A → T. Corresponds to variant dbSNP:rs9282692Ensembl.1
Natural variantiVAR_052295448S → N. Corresponds to variant dbSNP:rs9282697Ensembl.1
Natural variantiVAR_052296481S → G. Corresponds to variant dbSNP:rs2276724Ensembl.1
Natural variantiVAR_036101511A → V in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs768309358Ensembl.1
Natural variantiVAR_052297793D → G. Corresponds to variant dbSNP:rs1127717Ensembl.1
Natural variantiVAR_052298803E → K. Corresponds to variant dbSNP:rs9282689Ensembl.1
Natural variantiVAR_052299812I → V. Corresponds to variant dbSNP:rs4646750Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0472601M → MAGPSNPPATM in isoform 3. 1 Publication1
Alternative sequenceiVSP_045569118 – 218Missing in isoform 2. 1 PublicationAdd BLAST101
Alternative sequenceiVSP_057429492 – 505LADLM…EELAT → APPSPSTRPDPTAT in isoform 4. 1 PublicationAdd BLAST14
Alternative sequenceiVSP_057430506 – 902Missing in isoform 4. 1 PublicationAdd BLAST397

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF052732 mRNA Translation: AAC35000.1
AK294392 mRNA Translation: BAG57647.1
CR749807 mRNA Translation: CAH18667.1
AC079848 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79370.1
BC027241 mRNA Translation: AAH27241.1
CCDSiCCDS3034.1 [O75891-1]
CCDS58850.1 [O75891-2]
CCDS58851.1 [O75891-3]
RefSeqiNP_001257293.1, NM_001270364.1 [O75891-3]
NP_001257294.1, NM_001270365.1 [O75891-2]
NP_036322.2, NM_012190.3 [O75891-1]
XP_006713544.1, XM_006713481.2 [O75891-1]
XP_011510657.1, XM_011512355.1 [O75891-1]
UniGeneiHs.434435

Genome annotation databases

EnsembliENST00000273450; ENSP00000273450; ENSG00000144908 [O75891-3]
ENST00000393431; ENSP00000377081; ENSG00000144908 [O75891-4]
ENST00000393434; ENSP00000377083; ENSG00000144908 [O75891-1]
ENST00000452905; ENSP00000395881; ENSG00000144908 [O75891-2]
ENST00000455064; ENSP00000414126; ENSG00000144908 [O75891-4]
ENST00000472186; ENSP00000420293; ENSG00000144908 [O75891-1]
GeneIDi10840
KEGGihsa:10840
UCSCiuc003eim.3 human [O75891-1]
uc062njt.1 human

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF052732 mRNA Translation: AAC35000.1
AK294392 mRNA Translation: BAG57647.1
CR749807 mRNA Translation: CAH18667.1
AC079848 Genomic DNA No translation available.
CH471052 Genomic DNA Translation: EAW79370.1
BC027241 mRNA Translation: AAH27241.1
CCDSiCCDS3034.1 [O75891-1]
CCDS58850.1 [O75891-2]
CCDS58851.1 [O75891-3]
RefSeqiNP_001257293.1, NM_001270364.1 [O75891-3]
NP_001257294.1, NM_001270365.1 [O75891-2]
NP_036322.2, NM_012190.3 [O75891-1]
XP_006713544.1, XM_006713481.2 [O75891-1]
XP_011510657.1, XM_011512355.1 [O75891-1]
UniGeneiHs.434435

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2BW0X-ray1.70A1-307[»]
2CFIX-ray1.85A1-307[»]
2CQ8NMR-A305-401[»]
ProteinModelPortaliO75891
SMRiO75891
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi116052, 4 interactors
IntActiO75891, 4 interactors
MINTiO75891
STRINGi9606.ENSP00000377083

Chemistry databases

DrugBankiDB00116 Tetrahydrofolic acid

PTM databases

iPTMnetiO75891
PhosphoSitePlusiO75891

Polymorphism and mutation databases

BioMutaiALDH1L1

Proteomic databases

EPDiO75891
MaxQBiO75891
PaxDbiO75891
PeptideAtlasiO75891
PRIDEiO75891
ProteomicsDBi50249

Protocols and materials databases

DNASUi10840
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000273450; ENSP00000273450; ENSG00000144908 [O75891-3]
ENST00000393431; ENSP00000377081; ENSG00000144908 [O75891-4]
ENST00000393434; ENSP00000377083; ENSG00000144908 [O75891-1]
ENST00000452905; ENSP00000395881; ENSG00000144908 [O75891-2]
ENST00000455064; ENSP00000414126; ENSG00000144908 [O75891-4]
ENST00000472186; ENSP00000420293; ENSG00000144908 [O75891-1]
GeneIDi10840
KEGGihsa:10840
UCSCiuc003eim.3 human [O75891-1]
uc062njt.1 human

Organism-specific databases

CTDi10840
DisGeNETi10840
EuPathDBiHostDB:ENSG00000144908.13
GeneCardsiALDH1L1
HGNCiHGNC:3978 ALDH1L1
HPAiHPA036900
HPA050139
MIMi600249 gene
neXtProtiNX_O75891
OpenTargetsiENSG00000144908
PharmGKBiPA28393
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2450 Eukaryota
COG1012 LUCA
GeneTreeiENSGT00760000118999
HOGENOMiHOG000006902
HOVERGENiHBG051668
InParanoidiO75891
KOiK00289
OMAiAMKIAVI
OrthoDBiEOG091G05E8
PhylomeDBiO75891
TreeFamiTF354242

Enzyme and pathway databases

BioCyciMetaCyc:HS07217-MONOMER
BRENDAi1.5.1.6 2681
ReactomeiR-HSA-196757 Metabolism of folate and pterines

Miscellaneous databases

ChiTaRSiALDH1L1 human
EvolutionaryTraceiO75891
GeneWikiiALDH1L1
GenomeRNAii10840
PROiPR:O75891
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000144908 Expressed in 200 organ(s), highest expression level in liver
CleanExiHS_ALDH1L1
ExpressionAtlasiO75891 baseline and differential
GenevisibleiO75891 HS

Family and domain databases

Gene3Di1.10.1200.10, 1 hit
3.10.25.10, 1 hit
3.40.309.10, 1 hit
3.40.605.10, 1 hit
InterProiView protein in InterPro
IPR011407 10_FTHF_DH
IPR036736 ACP-like_sf
IPR016161 Ald_DH/histidinol_DH
IPR016163 Ald_DH_C
IPR016160 Ald_DH_CS_CYS
IPR029510 Ald_DH_CS_GLU
IPR016162 Ald_DH_N
IPR015590 Aldehyde_DH_dom
IPR005793 Formyl_trans_C
IPR037022 Formyl_trans_C_sf
IPR002376 Formyl_transf_N
IPR036477 Formyl_transf_N_sf
IPR011034 Formyl_transferase-like_C_sf
IPR001555 GART_AS
IPR009081 PP-bd_ACP
PfamiView protein in Pfam
PF00171 Aldedh, 1 hit
PF02911 Formyl_trans_C, 1 hit
PF00551 Formyl_trans_N, 1 hit
PF00550 PP-binding, 1 hit
PIRSFiPIRSF036489 10-FTHFDH, 1 hit
SUPFAMiSSF47336 SSF47336, 1 hit
SSF50486 SSF50486, 1 hit
SSF53328 SSF53328, 1 hit
SSF53720 SSF53720, 1 hit
PROSITEiView protein in PROSITE
PS00070 ALDEHYDE_DEHYDR_CYS, 1 hit
PS00687 ALDEHYDE_DEHYDR_GLU, 1 hit
PS50075 CARRIER, 1 hit
PS00373 GART, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiAL1L1_HUMAN
AccessioniPrimary (citable) accession number: O75891
Secondary accession number(s): B4DG36
, E9PBX3, Q68CS1, Q8TBP8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: February 15, 2005
Last modified: November 7, 2018
This is version 184 of the entry and version 2 of the sequence. See 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, Reference proteome

Documents

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