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Q3SY69 (AL1L2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Mitochondrial 10-formyltetrahydrofolate dehydrogenase

Short name=Mitochondrial 10-FTHFDH
Short name=mtFDH
EC=1.5.1.6
Alternative name(s):
Aldehyde dehydrogenase family 1 member L2
Gene names
Name:ALDH1L2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length923 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Catalytic activity

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

Subcellular location

Mitochondrion Ref.5.

Tissue specificity

Highly expressed in pancreas, heart, brain and skeletal muscle. Ref.5

Sequence similarities

In the N-terminal section; belongs to the GART family.

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

Contains 1 acyl carrier domain.

Sequence caution

The sequence AAI03936.1 differs from that shown. Reason: Erroneous translation. Wrong choice of CDS.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q3SY69-1)

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.
Isoform 2 (identifier: Q3SY69-2)

The sequence of this isoform differs from the canonical sequence as follows:
     199-203: VEAVQ → KLSNS
     204-923: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q3SY69-3)

The sequence of this isoform differs from the canonical sequence as follows:
     512-516: RLADL → SMRMN
     517-923: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 923923Mitochondrial 10-formyltetrahydrofolate dehydrogenase
PRO_0000316001
Transit peptide1 – 1919Mitochondrion; not cleaved

Regions

Domain344 – 41370Acyl carrier
Region23 – 225203GART
Region438 – 923486Aldehyde dehydrogenase

Sites

Active site1281Proton donor By similarity
Active site6941 By similarity
Active site7281 By similarity
Site1641Essential for catalytic activity By similarity

Amino acid modifications

Modified residue3751O-(pantetheine 4'-phosphoryl)serine By similarity
Modified residue6811N6-succinyllysine By similarity
Modified residue9031N6-acetyllysine Ref.4

Natural variations

Alternative sequence199 – 2035VEAVQ → KLSNS in isoform 2.
VSP_030752
Alternative sequence204 – 923720Missing in isoform 2.
VSP_030753
Alternative sequence512 – 5165RLADL → SMRMN in isoform 3.
VSP_030754
Alternative sequence517 – 923407Missing in isoform 3.
VSP_030755

Experimental info

Sequence conflict7121A → T in AAI03935. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 15, 2008. Version 2.
Checksum: C5DD74506F08AAFE

FASTA923101,746
        10         20         30         40         50         60 
MLRRGSQALR RFSTGRVYFK NKLKLALIGQ SLFGQEVYSH LRKEGHRVVG VFTVPDKDGK 

        70         80         90        100        110        120 
ADPLALAAEK DGTPVFKLPK WRVKGKTIKE VAEAYRSVGA ELNVLPFCTQ FIPMDIIDSP 

       130        140        150        160        170        180 
KHGSIIYHPS ILPRHRGASA INWTLIMGDK KAGFSVFWAD DGLDTGPILL QRSCDVEPND 

       190        200        210        220        230        240 
TVDALYNRFL FPEGIKAMVE AVQLIADGKA PRIPQPEEGA TYEGIQKKEN AEISWDQSAE 

       250        260        270        280        290        300 
VLHNWIRGHD KVPGAWTEIN GQMVTFYGST LLNSSVPPGE PLEIKGAKKP GLVTKNGLVL 

       310        320        330        340        350        360 
FGNDGKALTV RNLQFEDGKM IPASQYFSTG ETSVVELTAE EVKVAETIKV IWAGILSNVP 

       370        380        390        400        410        420 
IIEDSTDFFK SGASSMDVAR LVEEIRQKCG GLQLQNEDVY MATKFEGFIQ KVVRKLRGED 

       430        440        450        460        470        480 
QEVELVVDYI SKEVNEIMVK MPYQCFINGQ FTDADDGKTY DTINPTDGST ICKVSYASLA 

       490        500        510        520        530        540 
DVDKAVAAAK DAFENGEWGR MNARERGRLM YRLADLLEEN QEELATIEAL DSGAVYTLAL 

       550        560        570        580        590        600 
KTHIGMSVQT FRYFAGWCDK IQGSTIPINQ ARPNRNLTFT KKEPLGVCAI IIPWNYPLMM 

       610        620        630        640        650        660 
LAWKSAACLA AGNTLVLKPA QVTPLTALKF AELSVKAGFP KGVINIIPGS GGIAGQRLSE 

       670        680        690        700        710        720 
HPDIRKLGFT GSTPIGKQIM KSCAVSNLKK VSLELGGKSP LIIFNDCELD KAVRMGMGAV 

       730        740        750        760        770        780 
FFNKGENCIA AGRLFVEESI HDEFVTRVVE EIKKMKIGDP LDRSTDHGPQ NHKAHLEKLL 

       790        800        810        820        830        840 
QYCETGVKEG ATLVYGGRQV QRPGFFMEPT VFTDVEDYMY LAKEESFGPI MVISKFQNGD 

       850        860        870        880        890        900 
IDGVLQRANS TEYGLASGVF TRDINKAMYV SEKLEAGTVF INTYNKTDVA APFGGVKQSG 

       910        920 
FGKDLGEEAL NEYLKTKTVT LEY 

« Hide

Isoform 2 [UniParc].

Checksum: 4D3484F504153102
Show »

FASTA20322,643
Isoform 3 [UniParc].

Checksum: 8C14B32D61FEFFF4
Show »

FASTA51657,244

References

« Hide 'large scale' references
[1]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
[2]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-752 (ISOFORM 1).
Tissue: Chondrocyte.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 221-511 (ISOFORM 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 762-923 (ISOFORM 1).
Tissue: Cervix and Uterus.
[4]"Lysine acetylation targets protein complexes and co-regulates major cellular functions."
Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-903, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[5]"ALDH1L2 is the mitochondrial homolog of 10-formyltetrahydrofolate dehydrogenase."
Krupenko N.I., Dubard M.E., Strickland K.C., Moxley K.M., Oleinik N.V., Krupenko S.A.
J. Biol. Chem. 285:23056-23063(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS31891.1. [Q3SY69-1]
RefSeqNP_001029345.2. NM_001034173.3. [Q3SY69-1]
UniGeneHs.42572.

3D structure databases

ProteinModelPortalQ3SY69.
SMRQ3SY69. Positions 23-422, 426-923.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127759. 1 interaction.
IntActQ3SY69. 1 interaction.
MINTMINT-8051641.
STRING9606.ENSP00000258494.

PTM databases

PhosphoSiteQ3SY69.

Polymorphism databases

DMDM166198355.

Proteomic databases

MaxQBQ3SY69.
PaxDbQ3SY69.
PRIDEQ3SY69.

Protocols and materials databases

DNASU160428.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000258494; ENSP00000258494; ENSG00000136010. [Q3SY69-1]
ENST00000424857; ENSP00000389608; ENSG00000136010. [Q3SY69-3]
ENST00000552270; ENSP00000447538; ENSG00000136010. [Q3SY69-2]
GeneID160428.
KEGGhsa:160428.
UCSCuc001tlc.3. human. [Q3SY69-1]

Organism-specific databases

CTD160428.
GeneCardsGC12M105417.
H-InvDBHIX0017226.
HGNCHGNC:26777. ALDH1L2.
HPAHPA039481.
MIM613584. gene.
neXtProtNX_Q3SY69.
PharmGKBPA134928545.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG1012.
HOGENOMHOG000006902.
HOVERGENHBG051668.
InParanoidQ3SY69.
KOK00289.
OMAHIGMSVQ.
OrthoDBEOG7MSMN7.
PhylomeDBQ3SY69.
TreeFamTF354242.

Enzyme and pathway databases

BioCycMetaCyc:HS06100-MONOMER.

Gene expression databases

BgeeQ3SY69.
CleanExHS_ALDH1L2.
GenevestigatorQ3SY69.

Family and domain databases

Gene3D1.10.1200.10. 1 hit.
3.10.25.10. 1 hit.
3.40.309.10. 1 hit.
3.40.50.170. 1 hit.
3.40.605.10. 1 hit.
InterProIPR011407. 10_FTHF_DH.
IPR009081. Acyl_carrier_prot-like.
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.
IPR002376. Formyl_transf_N.
IPR011034. Formyl_transferase_C-like.
IPR001555. GART_AS.
IPR006162. PPantetheine_attach_site.
[Graphical view]
PfamPF00171. Aldedh. 1 hit.
PF02911. Formyl_trans_C. 1 hit.
PF00551. Formyl_trans_N. 1 hit.
PF00550. PP-binding. 1 hit.
[Graphical view]
PIRSFPIRSF036489. 10-FTHFDH. 1 hit.
SUPFAMSSF50486. SSF50486. 1 hit.
SSF53328. SSF53328. 1 hit.
SSF53720. SSF53720. 1 hit.
PROSITEPS50075. ACP_DOMAIN. 1 hit.
PS00070. ALDEHYDE_DEHYDR_CYS. 1 hit.
PS00687. ALDEHYDE_DEHYDR_GLU. 1 hit.
PS00373. GART. 1 hit.
PS00012. PHOSPHOPANTETHEINE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiALDH1L2.
GenomeRNAi160428.
NextBio87968.
PROQ3SY69.
SOURCESearch...

Entry information

Entry nameAL1L2_HUMAN
AccessionPrimary (citable) accession number: Q3SY69
Secondary accession number(s): Q3SY68 expand/collapse secondary AC list , Q68D62, Q6AI55, Q8N922
Entry history
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: July 9, 2014
This is version 92 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 12

Human chromosome 12: entries, gene names and cross-references to MIM