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UniProtKB - Q3SY69 (AL1L2_HUMAN)

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Protein

Mitochondrial 10-formyltetrahydrofolate dehydrogenase

Gene

ALDH1L2

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

Functioni

Catalytic activityi

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

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei128Proton donorPROSITE-ProRule annotation1
Sitei164Essential for catalytic activityBy similarity1
Active sitei694By similarity1
Active sitei728By similarity1

GO - Molecular functioni

Complete GO annotation...

GO - Biological processi

Complete GO annotation...

Keywordsi

Molecular functionOxidoreductase
Biological processOne-carbon metabolism
LigandNADP

Enzyme and pathway databases

BioCyciMetaCyc:HS06100-MONOMER.
BRENDAi1.5.1.6. 2681.
ReactomeiR-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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

HGNCiHGNC:26777. ALDH1L2.

Subcellular locationi

GO - Cellular componenti

  • extracellular exosome Source: UniProtKB
  • mitochondrial matrix Source: Reactome
  • mitochondrion Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

DisGeNETi160428.
OpenTargetsiENSG00000136010.
PharmGKBiPA134928545.

Polymorphism and mutation databases

BioMutaiALDH1L2.
DMDMi166198355.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003160011 – 923Mitochondrial 10-formyltetrahydrofolate dehydrogenaseAdd BLAST923
Transit peptidei1 – 19Mitochondrion; not cleavedAdd BLAST19

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei375O-(pantetheine 4'-phosphoryl)serine; alternatePROSITE-ProRule annotation1
Modified residuei375Phosphoserine; alternateBy similarity1
Modified residuei681N6-succinyllysineBy similarity1
Modified residuei903N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation, Phosphopantetheine, Phosphoprotein

Proteomic databases

EPDiQ3SY69.
MaxQBiQ3SY69.
PaxDbiQ3SY69.
PeptideAtlasiQ3SY69.
PRIDEiQ3SY69.

PTM databases

iPTMnetiQ3SY69.
PhosphoSitePlusiQ3SY69.

Expressioni

Tissue specificityi

Highly expressed in pancreas, heart, brain and skeletal muscle.1 Publication

Gene expression databases

BgeeiENSG00000136010.
CleanExiHS_ALDH1L2.
ExpressionAtlasiQ3SY69. baseline and differential.
GenevisibleiQ3SY69. HS.

Organism-specific databases

HPAiHPA039481.

Interactioni

Protein-protein interaction databases

BioGridi127759. 12 interactors.
IntActiQ3SY69. 4 interactors.
MINTiMINT-8051641.
STRINGi9606.ENSP00000258494.

Structurei

3D structure databases

ProteinModelPortaliQ3SY69.
SMRiQ3SY69.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini339 – 416CarrierPROSITE-ProRule annotationAdd BLAST78

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni23 – 225GARTAdd BLAST203
Regioni438 – 923Aldehyde 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

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG2450. Eukaryota.
COG1012. LUCA.
GeneTreeiENSGT00760000118999.
HOGENOMiHOG000006902.
HOVERGENiHBG051668.
InParanoidiQ3SY69.
KOiK00289.
OMAiMMLAWKS.
OrthoDBiEOG091G05E8.
PhylomeDBiQ3SY69.
TreeFamiTF354242.

Family and domain databases

Gene3Di3.10.25.10. 1 hit.
3.40.50.170. 1 hit.
3.40.605.10. 1 hit.
InterProiView protein in InterPro
IPR011407. 10_FTHF_DH.
IPR016161. Ald_DH/histidinol_DH.
IPR016160. Ald_DH_CS_CYS.
IPR029510. Ald_DH_CS_GLU.
IPR016162. Ald_DH_N.
IPR015590. Aldehyde_DH_dom.
IPR005793. Formyl_trans_C.
IPR002376. Formyl_transf_N.
IPR011034. Formyl_transferase_C-like.
IPR001555. GART_AS.
IPR009081. PP-bd_ACP.
IPR006162. Ppantetheine_attach_site.
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.
SUPFAMiSSF50486. 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.
PS00012. PHOSPHOPANTETHEINE. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative 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.

« Hide

        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
Length:923
Mass (Da):101,746
Last modified:January 15, 2008 - v2
Checksum:iC5DD74506F08AAFE
GO
Isoform 2 (identifier: Q3SY69-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     199-203: VEAVQ → KLSNS
     204-923: Missing.

Note: No experimental confirmation available.
Show »
Length:203
Mass (Da):22,643
Checksum:i4D3484F504153102
GO
Isoform 3 (identifier: Q3SY69-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     512-516: RLADL → SMRMN
     517-923: Missing.

Note: No experimental confirmation available.
Show »
Length:516
Mass (Da):57,244
Checksum:i8C14B32D61FEFFF4
GO

Sequence cautioni

The sequence AAI03936 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti712A → T in AAI03935 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_030752199 – 203VEAVQ → KLSNS in isoform 2. 1 Publication5
Alternative sequenceiVSP_030753204 – 923Missing in isoform 2. 1 PublicationAdd BLAST720
Alternative sequenceiVSP_030754512 – 516RLADL → SMRMN in isoform 3. 1 Publication5
Alternative sequenceiVSP_030755517 – 923Missing in isoform 3. 1 PublicationAdd BLAST407

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.
CCDSiCCDS31891.1. [Q3SY69-1]
RefSeqiNP_001029345.2. NM_001034173.3. [Q3SY69-1]
XP_011536291.1. XM_011537989.2. [Q3SY69-3]
UniGeneiHs.42572.

Genome annotation databases

EnsembliENST00000258494; ENSP00000258494; ENSG00000136010. [Q3SY69-1]
ENST00000552270; ENSP00000447538; ENSG00000136010. [Q3SY69-2]
GeneIDi160428.
KEGGihsa:160428.
UCSCiuc001tlc.4. human. [Q3SY69-1]

Keywords - Coding sequence diversityi

Alternative splicing

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.

Entry informationi

Entry nameiAL1L2_HUMAN
AccessioniPrimary (citable) accession number: Q3SY69
Secondary accession number(s): Q3SY68
, Q68D62, Q6AI55, Q8N922
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: June 7, 2017
This is version 121 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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families