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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...

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-lyasePRO_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...
MobiDBi 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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