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Q3SY69

- AL1L2_HUMAN

UniProt

Q3SY69 - AL1L2_HUMAN

Protein

Mitochondrial 10-formyltetrahydrofolate dehydrogenase

Gene

ALDH1L2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 2 (15 Jan 2008)
      Previous versions | rss
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    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

    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. mitochondrion Source: HPA

    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. 1 interaction.
    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.
    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

    MLRRGSQALR RFSTGRVYFK NKLKLALIGQ SLFGQEVYSH LRKEGHRVVG    50
    VFTVPDKDGK ADPLALAAEK DGTPVFKLPK WRVKGKTIKE VAEAYRSVGA 100
    ELNVLPFCTQ FIPMDIIDSP KHGSIIYHPS ILPRHRGASA INWTLIMGDK 150
    KAGFSVFWAD DGLDTGPILL QRSCDVEPND TVDALYNRFL FPEGIKAMVE 200
    AVQLIADGKA PRIPQPEEGA TYEGIQKKEN AEISWDQSAE VLHNWIRGHD 250
    KVPGAWTEIN GQMVTFYGST LLNSSVPPGE PLEIKGAKKP GLVTKNGLVL 300
    FGNDGKALTV RNLQFEDGKM IPASQYFSTG ETSVVELTAE EVKVAETIKV 350
    IWAGILSNVP IIEDSTDFFK SGASSMDVAR LVEEIRQKCG GLQLQNEDVY 400
    MATKFEGFIQ KVVRKLRGED QEVELVVDYI SKEVNEIMVK MPYQCFINGQ 450
    FTDADDGKTY DTINPTDGST ICKVSYASLA DVDKAVAAAK DAFENGEWGR 500
    MNARERGRLM YRLADLLEEN QEELATIEAL DSGAVYTLAL KTHIGMSVQT 550
    FRYFAGWCDK IQGSTIPINQ ARPNRNLTFT KKEPLGVCAI IIPWNYPLMM 600
    LAWKSAACLA AGNTLVLKPA QVTPLTALKF AELSVKAGFP KGVINIIPGS 650
    GGIAGQRLSE HPDIRKLGFT GSTPIGKQIM KSCAVSNLKK VSLELGGKSP 700
    LIIFNDCELD KAVRMGMGAV FFNKGENCIA AGRLFVEESI HDEFVTRVVE 750
    EIKKMKIGDP LDRSTDHGPQ NHKAHLEKLL QYCETGVKEG ATLVYGGRQV 800
    QRPGFFMEPT VFTDVEDYMY LAKEESFGPI MVISKFQNGD IDGVLQRANS 850
    TEYGLASGVF TRDINKAMYV SEKLEAGTVF INTYNKTDVA APFGGVKQSG 900
    FGKDLGEEAL NEYLKTKTVT LEY 923
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 1 interaction.
    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.
    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

    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

    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: October 1, 2014
    This is version 93 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