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Q3SY69

- AL1L2_HUMAN

UniProt

Q3SY69 - AL1L2_HUMAN

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Protein

Mitochondrial 10-formyltetrahydrofolate dehydrogenase

Gene

ALDH1L2

Organism
Homo sapiens (Human)
Status
Reviewed - 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)LengthDescriptionGraphical viewFeature identifierActions
Active sitei128 – 1281Proton donorPROSITE-ProRule annotation
Sitei164 – 1641Essential for catalytic activityBy similarity
Active sitei694 – 6941By similarity
Active sitei728 – 7281By similarity

GO - Molecular functioni

  1. formyltetrahydrofolate dehydrogenase activity Source: UniProtKB-EC
  2. hydroxymethyl-, formyl- and related transferase activity Source: InterPro
  3. methyltransferase activity Source: InterPro
  4. oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor Source: InterPro

GO - Biological processi

  1. 10-formyltetrahydrofolate catabolic process Source: InterPro
  2. biosynthetic process Source: InterPro
  3. one-carbon metabolic process Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

One-carbon metabolism

Keywords - Ligandi

NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS06100-MONOMER.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 12

Organism-specific databases

HGNCiHGNC:26777. ALDH1L2.

Subcellular locationi

Mitochondrion 1 Publication

GO - Cellular componenti

  1. extracellular vesicular exosome Source: UniProtKB
  2. mitochondrion Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134928545.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 923923Mitochondrial 10-formyltetrahydrofolate dehydrogenasePRO_0000316001Add
BLAST
Transit peptidei1 – 1919Mitochondrion; not cleavedAdd
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei375 – 3751O-(pantetheine 4'-phosphoryl)serinePROSITE-ProRule annotation
Modified residuei681 – 6811N6-succinyllysineBy similarity
Modified residuei903 – 9031N6-acetyllysine1 Publication

Keywords - PTMi

Acetylation, Phosphopantetheine, Phosphoprotein

Proteomic databases

MaxQBiQ3SY69.
PaxDbiQ3SY69.
PRIDEiQ3SY69.

PTM databases

PhosphoSiteiQ3SY69.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiQ3SY69.
CleanExiHS_ALDH1L2.
GenevestigatoriQ3SY69.

Organism-specific databases

HPAiHPA039481.

Interactioni

Protein-protein interaction databases

BioGridi127759. 10 interactions.
IntActiQ3SY69. 1 interaction.
MINTiMINT-8051641.
STRINGi9606.ENSP00000258494.

Structurei

3D structure databases

ProteinModelPortaliQ3SY69.
SMRiQ3SY69. Positions 23-422, 426-923.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini344 – 41370Acyl carrierPROSITE-ProRule annotationAdd
BLAST

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni23 – 225203GARTAdd
BLAST
Regioni438 – 923486Aldehyde dehydrogenaseAdd
BLAST

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
Contains 1 acyl carrier domain.PROSITE-ProRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiCOG1012.
GeneTreeiENSGT00760000118999.
HOGENOMiHOG000006902.
HOVERGENiHBG051668.
InParanoidiQ3SY69.
KOiK00289.
OMAiHIGMSVQ.
OrthoDBiEOG7MSMN7.
PhylomeDBiQ3SY69.
TreeFamiTF354242.

Family and domain databases

Gene3Di1.10.1200.10. 1 hit.
3.10.25.10. 1 hit.
3.40.309.10. 1 hit.
3.40.50.170. 1 hit.
3.40.605.10. 1 hit.
InterProiIPR011407. 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]
PfamiPF00171. Aldedh. 1 hit.
PF02911. Formyl_trans_C. 1 hit.
PF00551. Formyl_trans_N. 1 hit.
PF00550. PP-binding. 1 hit.
[Graphical view]
PIRSFiPIRSF036489. 10-FTHFDH. 1 hit.
SUPFAMiSSF50486. SSF50486. 1 hit.
SSF53328. SSF53328. 1 hit.
SSF53720. SSF53720. 1 hit.
PROSITEiPS50075. 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]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti712 – 7121A → T in AAI03935. (PubMed:15489334)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei199 – 2035VEAVQ → KLSNS in isoform 2. 1 PublicationVSP_030752
Alternative sequencei204 – 923720Missing in isoform 2. 1 PublicationVSP_030753Add
BLAST
Alternative sequencei512 – 5165RLADL → SMRMN in isoform 3. 1 PublicationVSP_030754
Alternative sequencei517 – 923407Missing in isoform 3. 1 PublicationVSP_030755Add
BLAST

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]
UniGeneiHs.42572.

Genome annotation databases

EnsembliENST00000258494; ENSP00000258494; ENSG00000136010. [Q3SY69-1]
ENST00000552270; ENSP00000447538; ENSG00000136010. [Q3SY69-2]
GeneIDi160428.
KEGGihsa:160428.
UCSCiuc001tlc.3. human. [Q3SY69-1]

Polymorphism databases

DMDMi166198355.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

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 ]
UniGenei Hs.42572.

3D structure databases

ProteinModelPortali Q3SY69.
SMRi Q3SY69. Positions 23-422, 426-923.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127759. 10 interactions.
IntActi Q3SY69. 1 interaction.
MINTi MINT-8051641.
STRINGi 9606.ENSP00000258494.

PTM databases

PhosphoSitei Q3SY69.

Polymorphism databases

DMDMi 166198355.

Proteomic databases

MaxQBi Q3SY69.
PaxDbi Q3SY69.
PRIDEi Q3SY69.

Protocols and materials databases

DNASUi 160428.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000258494 ; ENSP00000258494 ; ENSG00000136010 . [Q3SY69-1 ]
ENST00000552270 ; ENSP00000447538 ; ENSG00000136010 . [Q3SY69-2 ]
GeneIDi 160428.
KEGGi hsa:160428.
UCSCi uc001tlc.3. human. [Q3SY69-1 ]

Organism-specific databases

CTDi 160428.
GeneCardsi GC12M105417.
H-InvDB HIX0017226.
HGNCi HGNC:26777. ALDH1L2.
HPAi HPA039481.
MIMi 613584. gene.
neXtProti NX_Q3SY69.
PharmGKBi PA134928545.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG1012.
GeneTreei ENSGT00760000118999.
HOGENOMi HOG000006902.
HOVERGENi HBG051668.
InParanoidi Q3SY69.
KOi K00289.
OMAi HIGMSVQ.
OrthoDBi EOG7MSMN7.
PhylomeDBi Q3SY69.
TreeFami TF354242.

Enzyme and pathway databases

BioCyci MetaCyc:HS06100-MONOMER.

Miscellaneous databases

ChiTaRSi ALDH1L2. human.
GeneWikii ALDH1L2.
GenomeRNAii 160428.
NextBioi 87968.
PROi Q3SY69.
SOURCEi Search...

Gene expression databases

Bgeei Q3SY69.
CleanExi HS_ALDH1L2.
Genevestigatori Q3SY69.

Family and domain databases

Gene3Di 1.10.1200.10. 1 hit.
3.10.25.10. 1 hit.
3.40.309.10. 1 hit.
3.40.50.170. 1 hit.
3.40.605.10. 1 hit.
InterProi IPR011407. 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 ]
Pfami PF00171. Aldedh. 1 hit.
PF02911. Formyl_trans_C. 1 hit.
PF00551. Formyl_trans_N. 1 hit.
PF00550. PP-binding. 1 hit.
[Graphical view ]
PIRSFi PIRSF036489. 10-FTHFDH. 1 hit.
SUPFAMi SSF50486. SSF50486. 1 hit.
SSF53328. SSF53328. 1 hit.
SSF53720. SSF53720. 1 hit.
PROSITEi PS50075. 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 ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.

Entry informationi

Entry nameiAL1L2_HUMAN
AccessioniPrimary (citable) accession number: Q3SY69
Secondary accession number(s): Q3SY68
, Q68D62, Q6AI55, Q8N922
Entry historyi
Integrated into UniProtKB/Swiss-Prot: January 15, 2008
Last sequence update: January 15, 2008
Last modified: November 26, 2014
This is version 95 of the entry and version 2 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

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

External Data

Dasty 3