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Q8TBG4

- AT2L1_HUMAN

UniProt

Q8TBG4 - AT2L1_HUMAN

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Protein
Ethanolamine-phosphate phospho-lyase
Gene
ETNPPL, AGXT2L1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

Catalyzes the pyridoxal-phosphate-dependent breakdown of phosphoethanolamine, converting it to ammonia, inorganic phosphate and acetaldehyde.1 Publication

Catalytic activityi

Ethanolamine phosphate + H2O = acetaldehyde + NH3 + phosphate.1 Publication

Cofactori

Pyridoxal phosphate.1 Publication

Kineticsi

  1. KM=680 µM for phosphoethanolamine (at pH 7.4)1 Publication

Vmax=1.46 µmol/min/mg enzyme (at pH 7.4)

GO - Molecular functioni

  1. ethanolamine-phosphate phospho-lyase activity Source: UniProtKB-EC
  2. pyridoxal phosphate binding Source: InterPro
  3. transaminase activity Source: UniProtKB-KW
Complete GO annotation...

GO - Biological processi

    Complete GO annotation...

    Keywords - Molecular functioni

    Aminotransferase, Lyase, Transferase

    Keywords - Ligandi

    Pyridoxal phosphate

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Ethanolamine-phosphate phospho-lyase (EC:4.2.3.2)
    Alternative name(s):
    Alanine--glyoxylate aminotransferase 2-like 1
    Gene namesi
    Name:ETNPPL
    Synonyms:AGXT2L1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:14404. ETNPPL.

    Subcellular locationi

    Mitochondrion Reviewed prediction

    GO - Cellular componenti

    1. mitochondrion Source: UniProtKB-SubCell
    Complete GO annotation...

    Keywords - Cellular componenti

    Mitochondrion

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA24635.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 499499Ethanolamine-phosphate phospho-lyase
    PRO_0000287663Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei278 – 2781N6-(pyridoxal phosphate)lysine By similarity

    Proteomic databases

    MaxQBiQ8TBG4.
    PaxDbiQ8TBG4.
    PRIDEiQ8TBG4.

    PTM databases

    PhosphoSiteiQ8TBG4.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8TBG4.
    BgeeiQ8TBG4.
    CleanExiHS_AGXT2L1.
    GenevestigatoriQ8TBG4.

    Organism-specific databases

    HPAiHPA044546.

    Interactioni

    Subunit structurei

    Homotetramer By similarity.

    Protein-protein interaction databases

    BioGridi122323. 2 interactions.
    STRINGi9606.ENSP00000296486.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TBG4.
    SMRiQ8TBG4. Positions 15-433.

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiCOG0160.
    HOGENOMiHOG000020206.
    HOVERGENiHBG004196.
    InParanoidiQ8TBG4.
    KOiK14286.
    OMAiAMCAFEV.
    OrthoDBiEOG79KPF2.
    PhylomeDBiQ8TBG4.
    TreeFamiTF320468.

    Family and domain databases

    Gene3Di3.40.640.10. 1 hit.
    3.90.1150.10. 2 hits.
    InterProiIPR005814. Aminotrans_3.
    IPR015424. PyrdxlP-dep_Trfase.
    IPR015421. PyrdxlP-dep_Trfase_major_sub1.
    IPR015422. PyrdxlP-dep_Trfase_major_sub2.
    [Graphical view]
    PANTHERiPTHR11986. PTHR11986. 1 hit.
    PfamiPF00202. Aminotran_3. 1 hit.
    [Graphical view]
    PIRSFiPIRSF000521. Transaminase_4ab_Lys_Orn. 1 hit.
    SUPFAMiSSF53383. SSF53383. 1 hit.
    PROSITEiPS00600. AA_TRANSFER_CLASS_3. 1 hit.
    [Graphical view]

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8TBG4-1) [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

    MCELYSKRDT LGLRKKHIGP SCKVFFASDP IKIVRAQRQY MFDENGEQYL    50
    DCINNVAHVG HCHPGVVKAA LKQMELLNTN SRFLHDNIVE YAKRLSATLP 100
    EKLSVCYFTN SGSEANDLAL RLARQFRGHQ DVITLDHAYH GHLSSLIEIS 150
    PYKFQKGKDV KKEFVHVAPT PDTYRGKYRE DHADSASAYA DEVKKIIEDA 200
    HNSGRKIAAF IAESMQSCGG QIIPPAGYFQ KVAEYVHGAG GVFIADEVQV 250
    GFGRVGKHFW SFQMYGEDFV PDIVTMGKPM GNGHPVACVV TTKEIAEAFS 300
    SSGMEYFNTY GGNPVSCAVG LAVLDIIENE DLQGNAKRVG NYLTELLKKQ 350
    KAKHTLIGDI RGIGLFIGID LVKDHLKRTP ATAEAQHIIY KMKEKRVLLS 400
    ADGPHRNVLK IKPPMCFTEE DAKFMVDQLD RILTVLEEAM GTKTESVTSE 450
    NTPCKTKMLK EAHIELLRDS TTDSKENPSR KRNGMCTDTH SLLSKRLKT 499
    Length:499
    Mass (Da):55,671
    Last modified:June 1, 2002 - v1
    Checksum:i3C610898060474B4
    GO
    Isoform 2 (identifier: Q8TBG4-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         59-64: Missing.

    Show »
    Length:493
    Mass (Da):55,040
    Checksum:i550C3D17990588B3
    GO
    Isoform 3 (identifier: Q8TBG4-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-59: MCELYSKRDTLGLRKKHIGPSCKVFFASDPIKIVRAQRQYMFDENGEQYLDCINNVAHV → M

    Note: No experimental confirmation available.

    Show »
    Length:441
    Mass (Da):48,942
    Checksum:i922846180BD29061
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti185 – 1851S → P.
    Corresponds to variant rs1377210 [ dbSNP | Ensembl ].
    VAR_032342

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 5959MCELY…NVAHV → M in isoform 3.
    VSP_046097Add
    BLAST
    Alternative sequencei59 – 646Missing in isoform 2.
    VSP_025583

    Sequence conflict

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti105 – 1051V → A in BAH11666. 1 Publication

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ298293 mRNA. Translation: CAC22253.1.
    AK091888 mRNA. Translation: BAC03766.1.
    AK294072 mRNA. Translation: BAH11666.1.
    AC097473 Genomic DNA. Translation: AAY40946.1.
    BC022526 mRNA. Translation: AAH22526.1.
    CCDSiCCDS3682.1. [Q8TBG4-1]
    CCDS54792.1. [Q8TBG4-3]
    CCDS54793.1. [Q8TBG4-2]
    RefSeqiNP_001140062.1. NM_001146590.1. [Q8TBG4-2]
    NP_001140099.1. NM_001146627.1. [Q8TBG4-3]
    NP_112569.2. NM_031279.3. [Q8TBG4-1]
    UniGeneiHs.106576.

    Genome annotation databases

    EnsembliENST00000296486; ENSP00000296486; ENSG00000164089. [Q8TBG4-1]
    ENST00000411864; ENSP00000392269; ENSG00000164089. [Q8TBG4-2]
    ENST00000512646; ENSP00000427065; ENSG00000164089. [Q8TBG4-3]
    GeneIDi64850.
    KEGGihsa:64850.
    UCSCiuc003hzc.3. human. [Q8TBG4-1]
    uc010imc.3. human. [Q8TBG4-2]

    Polymorphism databases

    DMDMi74751376.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AJ298293 mRNA. Translation: CAC22253.1 .
    AK091888 mRNA. Translation: BAC03766.1 .
    AK294072 mRNA. Translation: BAH11666.1 .
    AC097473 Genomic DNA. Translation: AAY40946.1 .
    BC022526 mRNA. Translation: AAH22526.1 .
    CCDSi CCDS3682.1. [Q8TBG4-1 ]
    CCDS54792.1. [Q8TBG4-3 ]
    CCDS54793.1. [Q8TBG4-2 ]
    RefSeqi NP_001140062.1. NM_001146590.1. [Q8TBG4-2 ]
    NP_001140099.1. NM_001146627.1. [Q8TBG4-3 ]
    NP_112569.2. NM_031279.3. [Q8TBG4-1 ]
    UniGenei Hs.106576.

    3D structure databases

    ProteinModelPortali Q8TBG4.
    SMRi Q8TBG4. Positions 15-433.
    ModBasei Search...

    Protein-protein interaction databases

    BioGridi 122323. 2 interactions.
    STRINGi 9606.ENSP00000296486.

    PTM databases

    PhosphoSitei Q8TBG4.

    Polymorphism databases

    DMDMi 74751376.

    Proteomic databases

    MaxQBi Q8TBG4.
    PaxDbi Q8TBG4.
    PRIDEi Q8TBG4.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000296486 ; ENSP00000296486 ; ENSG00000164089 . [Q8TBG4-1 ]
    ENST00000411864 ; ENSP00000392269 ; ENSG00000164089 . [Q8TBG4-2 ]
    ENST00000512646 ; ENSP00000427065 ; ENSG00000164089 . [Q8TBG4-3 ]
    GeneIDi 64850.
    KEGGi hsa:64850.
    UCSCi uc003hzc.3. human. [Q8TBG4-1 ]
    uc010imc.3. human. [Q8TBG4-2 ]

    Organism-specific databases

    CTDi 64850.
    GeneCardsi GC04M109664.
    HGNCi HGNC:14404. ETNPPL.
    HPAi HPA044546.
    MIMi 614682. gene.
    neXtProti NX_Q8TBG4.
    PharmGKBi PA24635.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG0160.
    HOGENOMi HOG000020206.
    HOVERGENi HBG004196.
    InParanoidi Q8TBG4.
    KOi K14286.
    OMAi AMCAFEV.
    OrthoDBi EOG79KPF2.
    PhylomeDBi Q8TBG4.
    TreeFami TF320468.

    Miscellaneous databases

    GenomeRNAii 64850.
    NextBioi 66972.
    PROi Q8TBG4.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8TBG4.
    Bgeei Q8TBG4.
    CleanExi HS_AGXT2L1.
    Genevestigatori Q8TBG4.

    Family and domain databases

    Gene3Di 3.40.640.10. 1 hit.
    3.90.1150.10. 2 hits.
    InterProi IPR005814. Aminotrans_3.
    IPR015424. PyrdxlP-dep_Trfase.
    IPR015421. PyrdxlP-dep_Trfase_major_sub1.
    IPR015422. PyrdxlP-dep_Trfase_major_sub2.
    [Graphical view ]
    PANTHERi PTHR11986. PTHR11986. 1 hit.
    Pfami PF00202. Aminotran_3. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF000521. Transaminase_4ab_Lys_Orn. 1 hit.
    SUPFAMi SSF53383. SSF53383. 1 hit.
    PROSITEi PS00600. AA_TRANSFER_CLASS_3. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    « Hide 'large scale' publications
    1. "Molecular cloning and sequencing of a cDNA encoding alanine-glyoxylate aminotransferase 2 from rat kidney."
      Matsui-Lee I.S., Muragaki Y., Ideguchi T., Hase T., Tsuji M., Ooshima A., Okuno E., Kido R.
      J. Biochem. 117:856-862(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 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] (ISOFORMS 1 AND 3).
      Tissue: Brain cortex and Kidney.
    3. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "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] (ISOFORM 1).
      Tissue: Brain.
    5. "Molecular identification of hydroxylysine kinase and of ammoniophospholyases acting on 5-phosphohydroxy-L-lysine and phosphoethanolamine."
      Veiga-da-Cunha M., Hadi F., Balligand T., Stroobant V., Van Schaftingen E.
      J. Biol. Chem. 287:7246-7255(2012) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION, CATALYTIC ACTIVITY, COFACTOR, BIOPHYSICOCHEMICAL PROPERTIES.

    Entry informationi

    Entry nameiAT2L1_HUMAN
    AccessioniPrimary (citable) accession number: Q8TBG4
    Secondary accession number(s): B7Z1Y0, E9PBY0, Q9H174
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: May 15, 2007
    Last sequence update: June 1, 2002
    Last modified: July 9, 2014
    This is version 100 of the entry and version 1 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 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3

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