UniProtKB - Q3SY69 (AL1L2_HUMAN)
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Protein
Mitochondrial 10-formyltetrahydrofolate dehydrogenase
Gene
ALDH1L2
Organism
Homo sapiens (Human)
Status
Functioni
Catalytic activityi
10-formyltetrahydrofolate + NADP+ + H2O = tetrahydrofolate + CO2 + NADPH.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Active sitei | 128 | Proton donorPROSITE-ProRule annotation | 1 | |
Sitei | 164 | Essential for catalytic activityBy similarity | 1 | |
Active sitei | 694 | By similarity | 1 | |
Active sitei | 728 | By similarity | 1 |
GO - Molecular functioni
- aldehyde dehydrogenase (NAD) activity Source: Reactome
- formyltetrahydrofolate dehydrogenase activity Source: GO_Central
- hydroxymethyl-, formyl- and related transferase activity Source: InterPro
GO - Biological processi
- 10-formyltetrahydrofolate catabolic process Source: InterPro
- biosynthetic process Source: InterPro
- folic acid metabolic process Source: Reactome
- one-carbon metabolic process Source: UniProtKB-KW
Keywordsi
Molecular function | Oxidoreductase |
Biological process | One-carbon metabolism |
Ligand | NADP |
Enzyme and pathway databases
BioCyci | MetaCyc:HS06100-MONOMER. |
BRENDAi | 1.5.1.6. 2681. |
Reactomei | R-HSA-196757. Metabolism of folate and pterines. |
Names & Taxonomyi
Protein namesi | Recommended name: Mitochondrial 10-formyltetrahydrofolate dehydrogenase (EC:1.5.1.6)Short name: Mitochondrial 10-FTHFDH Short name: mtFDH Alternative name(s): Aldehyde dehydrogenase family 1 member L2 |
Gene namesi | Name:ALDH1L2 |
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
EuPathDBi | HostDB:ENSG00000136010.13. |
HGNCi | HGNC:26777. ALDH1L2. |
MIMi | 613584. gene. |
neXtProti | NX_Q3SY69. |
Pathology & Biotechi
Organism-specific databases
DisGeNETi | 160428. |
OpenTargetsi | ENSG00000136010. |
PharmGKBi | PA134928545. |
Polymorphism and mutation databases
BioMutai | ALDH1L2. |
DMDMi | 166198355. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000316001 | 1 – 923 | Mitochondrial 10-formyltetrahydrofolate dehydrogenaseAdd BLAST | 923 | |
Transit peptidei | 1 – 19 | Mitochondrion; not cleavedAdd BLAST | 19 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 31 | PhosphoserineBy similarity | 1 | |
Modified residuei | 60 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 375 | O-(pantetheine 4'-phosphoryl)serine; alternatePROSITE-ProRule annotation | 1 | |
Modified residuei | 375 | Phosphoserine; alternateBy similarity | 1 | |
Modified residuei | 650 | PhosphoserineBy similarity | 1 | |
Modified residuei | 681 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 788 | N6-succinyllysineBy similarity | 1 | |
Modified residuei | 903 | N6-acetyllysineCombined sources | 1 |
Keywords - PTMi
Acetylation, Phosphopantetheine, PhosphoproteinProteomic databases
EPDi | Q3SY69. |
MaxQBi | Q3SY69. |
PaxDbi | Q3SY69. |
PeptideAtlasi | Q3SY69. |
PRIDEi | Q3SY69. |
PTM databases
iPTMneti | Q3SY69. |
PhosphoSitePlusi | Q3SY69. |
Expressioni
Tissue specificityi
Highly expressed in pancreas, heart, brain and skeletal muscle.1 Publication
Gene expression databases
Bgeei | ENSG00000136010. |
CleanExi | HS_ALDH1L2. |
ExpressionAtlasi | Q3SY69. baseline and differential. |
Genevisiblei | Q3SY69. HS. |
Organism-specific databases
HPAi | HPA039481. |
Interactioni
Protein-protein interaction databases
BioGridi | 127759. 28 interactors. |
IntActi | Q3SY69. 4 interactors. |
MINTi | Q3SY69. |
STRINGi | 9606.ENSP00000258494. |
Structurei
3D structure databases
ProteinModelPortali | Q3SY69. |
SMRi | Q3SY69. |
ModBasei | Search... |
MobiDBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 339 – 416 | CarrierPROSITE-ProRule annotationAdd BLAST | 78 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 23 – 225 | GARTAdd BLAST | 203 | |
Regioni | 438 – 923 | Aldehyde dehydrogenaseAdd BLAST | 486 |
Sequence similaritiesi
In the N-terminal section; belongs to the GART family.Curated
Keywords - Domaini
Transit peptidePhylogenomic databases
eggNOGi | KOG2450. Eukaryota. COG1012. LUCA. |
GeneTreei | ENSGT00760000118999. |
HOGENOMi | HOG000006902. |
HOVERGENi | HBG051668. |
InParanoidi | Q3SY69. |
KOi | K00289. |
OMAi | MMLAWKS. |
OrthoDBi | EOG091G05E8. |
PhylomeDBi | Q3SY69. |
TreeFami | TF354242. |
Family and domain databases
Gene3Di | 1.10.1200.10. 1 hit. 3.10.25.10. 1 hit. 3.40.309.10. 1 hit. 3.40.605.10. 2 hits. |
InterProi | View 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. IPR006162. Ppantetheine_attach_site. |
Pfami | View protein in Pfam PF00171. Aldedh. 1 hit. PF02911. Formyl_trans_C. 1 hit. PF00551. Formyl_trans_N. 1 hit. PF00550. PP-binding. 1 hit. |
PIRSFi | PIRSF036489. 10-FTHFDH. 1 hit. |
SUPFAMi | SSF50486. SSF50486. 1 hit. SSF53328. SSF53328. 1 hit. SSF53720. SSF53720. 1 hit. |
PROSITEi | View protein in PROSITE PS00070. ALDEHYDE_DEHYDR_CYS. 1 hit. PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit. PS50075. CARRIER. 1 hit. PS00373. GART. 1 hit. PS00012. PHOSPHOPANTETHEINE. 1 hit. |
s (3)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q3SY69-1) [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.
10 20 30 40 50
MLRRGSQALR RFSTGRVYFK NKLKLALIGQ SLFGQEVYSH LRKEGHRVVG
60 70 80 90 100
VFTVPDKDGK ADPLALAAEK DGTPVFKLPK WRVKGKTIKE VAEAYRSVGA
110 120 130 140 150
ELNVLPFCTQ FIPMDIIDSP KHGSIIYHPS ILPRHRGASA INWTLIMGDK
160 170 180 190 200
KAGFSVFWAD DGLDTGPILL QRSCDVEPND TVDALYNRFL FPEGIKAMVE
210 220 230 240 250
AVQLIADGKA PRIPQPEEGA TYEGIQKKEN AEISWDQSAE VLHNWIRGHD
260 270 280 290 300
KVPGAWTEIN GQMVTFYGST LLNSSVPPGE PLEIKGAKKP GLVTKNGLVL
310 320 330 340 350
FGNDGKALTV RNLQFEDGKM IPASQYFSTG ETSVVELTAE EVKVAETIKV
360 370 380 390 400
IWAGILSNVP IIEDSTDFFK SGASSMDVAR LVEEIRQKCG GLQLQNEDVY
410 420 430 440 450
MATKFEGFIQ KVVRKLRGED QEVELVVDYI SKEVNEIMVK MPYQCFINGQ
460 470 480 490 500
FTDADDGKTY DTINPTDGST ICKVSYASLA DVDKAVAAAK DAFENGEWGR
510 520 530 540 550
MNARERGRLM YRLADLLEEN QEELATIEAL DSGAVYTLAL KTHIGMSVQT
560 570 580 590 600
FRYFAGWCDK IQGSTIPINQ ARPNRNLTFT KKEPLGVCAI IIPWNYPLMM
610 620 630 640 650
LAWKSAACLA AGNTLVLKPA QVTPLTALKF AELSVKAGFP KGVINIIPGS
660 670 680 690 700
GGIAGQRLSE HPDIRKLGFT GSTPIGKQIM KSCAVSNLKK VSLELGGKSP
710 720 730 740 750
LIIFNDCELD KAVRMGMGAV FFNKGENCIA AGRLFVEESI HDEFVTRVVE
760 770 780 790 800
EIKKMKIGDP LDRSTDHGPQ NHKAHLEKLL QYCETGVKEG ATLVYGGRQV
810 820 830 840 850
QRPGFFMEPT VFTDVEDYMY LAKEESFGPI MVISKFQNGD IDGVLQRANS
860 870 880 890 900
TEYGLASGVF TRDINKAMYV SEKLEAGTVF INTYNKTDVA APFGGVKQSG
910 920
FGKDLGEEAL NEYLKTKTVT LEY
Sequence cautioni
The sequence AAI03936 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 712 | A → T in AAI03935 (PubMed:15489334).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_030752 | 199 – 203 | VEAVQ → KLSNS in isoform 2. 1 Publication | 5 | |
Alternative sequenceiVSP_030753 | 204 – 923 | Missing in isoform 2. 1 PublicationAdd BLAST | 720 | |
Alternative sequenceiVSP_030754 | 512 – 516 | RLADL → SMRMN in isoform 3. 1 Publication | 5 | |
Alternative sequenceiVSP_030755 | 517 – 923 | Missing in isoform 3. 1 PublicationAdd BLAST | 407 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | BC103934 mRNA. Translation: AAI03935.1. BC103935 mRNA. Translation: AAI03936.1. Sequence problems. AK095827 mRNA. Translation: BAC04634.1. CR627287 mRNA. Translation: CAH10368.1. Different termination. CR749561 mRNA. Translation: CAH18358.1. |
CCDSi | CCDS31891.1. [Q3SY69-1] |
RefSeqi | NP_001029345.2. NM_001034173.3. [Q3SY69-1] XP_011536291.1. XM_011537989.2. [Q3SY69-3] |
UniGenei | Hs.42572. |
Genome annotation databases
Ensembli | ENST00000258494; ENSP00000258494; ENSG00000136010. [Q3SY69-1] ENST00000552270; ENSP00000447538; ENSG00000136010. [Q3SY69-2] |
GeneIDi | 160428. |
KEGGi | hsa:160428. |
UCSCi | uc001tlc.4. human. [Q3SY69-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Entry informationi
Entry namei | AL1L2_HUMAN | |
Accessioni | Q3SY69Primary (citable) accession number: Q3SY69 Secondary accession number(s): Q3SY68 Q8N922 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 15, 2008 |
Last sequence update: | January 15, 2008 | |
Last modified: | March 28, 2018 | |
This is version 127 of the entry and version 2 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. |