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Protein

Alanine aminotransferase 2

Gene

GPT2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate.1 Publication

Catalytic activityi

L-alanine + 2-oxoglutarate = pyruvate + L-glutamate.1 Publication

Cofactori

pyridoxal 5'-phosphate1 Publication

Pathwayi: L-alanine degradation via transaminase pathway

This protein is involved in step 1 of the subpathway that synthesizes pyruvate from L-alanine.
Proteins known to be involved in this subpathway in this organism are:
  1. Alanine aminotransferase 2 (GPT2), Alanine aminotransferase 1 (GPT)
This subpathway is part of the pathway L-alanine degradation via transaminase pathway, which is itself part of Amino-acid degradation.
View all proteins of this organism that are known to be involved in the subpathway that synthesizes pyruvate from L-alanine, the pathway L-alanine degradation via transaminase pathway and in Amino-acid degradation.

GO - Molecular functioni

GO - Biological processi

  • 2-oxoglutarate metabolic process Source: UniProtKB
  • cellular amino acid biosynthetic process Source: Reactome
  • L-alanine catabolic process Source: UniProtKB-UniPathway
  • L-alanine metabolic process Source: UniProtKB

Keywordsi

Molecular functionAminotransferase, Transferase
LigandPyridoxal phosphate

Enzyme and pathway databases

BioCyciMetaCyc:HS09332-MONOMER
ReactomeiR-HSA-70614 Amino acid synthesis and interconversion (transamination)
UniPathwayiUPA00528; UER00586

Names & Taxonomyi

Protein namesi
Recommended name:
Alanine aminotransferase 2 (EC:2.6.1.2)
Short name:
ALT2
Alternative name(s):
Glutamate pyruvate transaminase 2
Short name:
GPT 2
Glutamic--alanine transaminase 2
Glutamic--pyruvic transaminase 2
Gene namesi
Name:GPT2
Synonyms:AAT2, ALT2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

EuPathDBiHostDB:ENSG00000166123.13
HGNCiHGNC:18062 GPT2
MIMi138210 gene
neXtProtiNX_Q8TD30

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 49 (MRT49)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT49 patients show a developmental encephalopathy characterized by rapid onset of failure to thrive and microcephaly, as well as profoundly delayed development.
See also OMIM:616281
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073379153S → R in MRT49; loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs786203999EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Mental retardation

Organism-specific databases

DisGeNETi84706
MalaCardsiGPT2
MIMi616281 phenotype
OpenTargetsiENSG00000166123
PharmGKBiPA28948

Chemistry databases

DrugBankiDB00160 L-Alanine
DB00142 L-Glutamic Acid
DB00780 Phenelzine
DB00114 Pyridoxal Phosphate

Polymorphism and mutation databases

BioMutaiGPT2
DMDMi74730602

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002475321 – 523Alanine aminotransferase 2Add BLAST523

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei341N6-(pyridoxal phosphate)lysine1
Modified residuei415N6-acetyllysineBy similarity1
Modified residuei505N6-acetyllysineBy similarity1
Modified residuei512N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ8TD30
MaxQBiQ8TD30
PaxDbiQ8TD30
PeptideAtlasiQ8TD30
PRIDEiQ8TD30
ProteomicsDBi74226
74227 [Q8TD30-2]

PTM databases

iPTMnetiQ8TD30
PhosphoSitePlusiQ8TD30

Expressioni

Tissue specificityi

Expressed at high levels in muscle, adipose tissue, kidney and brain and at lower levels in the liver and breast.1 Publication

Gene expression databases

BgeeiENSG00000166123
CleanExiHS_GPT2
ExpressionAtlasiQ8TD30 baseline and differential
GenevisibleiQ8TD30 HS

Organism-specific databases

HPAiHPA051514

Interactioni

Subunit structurei

Homodimer.By similarity

Protein-protein interaction databases

BioGridi124217, 19 interactors
IntActiQ8TD30, 3 interactors
STRINGi9606.ENSP00000345282

Structurei

Secondary structure

1523
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi49 – 52Combined sources4
Turni53 – 56Combined sources4
Beta strandi57 – 64Combined sources8
Helixi67 – 80Combined sources14
Beta strandi86 – 89Combined sources4
Helixi107 – 117Combined sources11
Helixi119 – 123Combined sources5
Beta strandi125 – 127Combined sources3
Helixi129 – 141Combined sources13
Helixi157 – 170Combined sources14
Turni171 – 173Combined sources3
Helixi178 – 180Combined sources3
Beta strandi181 – 186Combined sources6
Helixi187 – 198Combined sources12
Helixi203 – 205Combined sources3
Beta strandi206 – 214Combined sources9
Helixi218 – 225Combined sources8
Beta strandi229 – 234Combined sources6
Helixi237 – 239Combined sources3
Helixi245 – 255Combined sources11
Turni256 – 258Combined sources3
Beta strandi259 – 269Combined sources11
Turni271 – 273Combined sources3
Helixi279 – 292Combined sources14
Beta strandi295 – 299Combined sources5
Turni301 – 304Combined sources4
Helixi316 – 322Combined sources7
Helixi325 – 328Combined sources4
Beta strandi333 – 342Combined sources10
Beta strandi347 – 349Combined sources3
Beta strandi352 – 358Combined sources7
Helixi361 – 373Combined sources13
Helixi379 – 388Combined sources10
Helixi399 – 425Combined sources27
Beta strandi437 – 441Combined sources5
Helixi449 – 457Combined sources9
Helixi462 – 474Combined sources13
Helixi481 – 483Combined sources3
Beta strandi492 – 496Combined sources5
Helixi501 – 521Combined sources21

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3IHJX-ray2.30A49-523[»]
ProteinModelPortaliQ8TD30
SMRiQ8TD30
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ8TD30

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0258 Eukaryota
COG0436 LUCA
GeneTreeiENSGT00650000093331
HOGENOMiHOG000215020
HOVERGENiHBG026148
InParanoidiQ8TD30
KOiK00814
OMAiAPGTEWV
OrthoDBiEOG091G0PY3
PhylomeDBiQ8TD30
TreeFamiTF300839

Family and domain databases

Gene3Di3.40.640.10, 1 hit
3.90.1150.10, 2 hits
InterProiView protein in InterPro
IPR004839 Aminotransferase_I/II
IPR015424 PyrdxlP-dep_Trfase
IPR015422 PyrdxlP-dep_Trfase_dom1
IPR015421 PyrdxlP-dep_Trfase_major
PfamiView protein in Pfam
PF00155 Aminotran_1_2, 1 hit
SUPFAMiSSF53383 SSF53383, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8TD30-1) [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
MQRAAALVRR GCGPRTPSSW GRSQSSAAAE ASAVLKVRPE RSRRERILTL
60 70 80 90 100
ESMNPQVKAV EYAVRGPIVL KAGEIELELQ RGIKKPFTEV IRANIGDAQA
110 120 130 140 150
MGQQPITFLR QVMALCTYPN LLDSPSFPED AKKRARRILQ ACGGNSLGSY
160 170 180 190 200
SASQGVNCIR EDVAAYITRR DGGVPADPDN IYLTTGASDG ISTILKILVS
210 220 230 240 250
GGGKSRTGVM IPIPQYPLYS AVISELDAIQ VNYYLDEENC WALNVNELRR
260 270 280 290 300
AVQEAKDHCD PKVLCIINPG NPTGQVQSRK CIEDVIHFAW EEKLFLLADE
310 320 330 340 350
VYQDNVYSPD CRFHSFKKVL YEMGPEYSSN VELASFHSTS KGYMGECGYR
360 370 380 390 400
GGYMEVINLH PEIKGQLVKL LSVRLCPPVS GQAAMDIVVN PPVAGEESFE
410 420 430 440 450
QFSREKESVL GNLAKKAKLT EDLFNQVPGI HCNPLQGAMY AFPRIFIPAK
460 470 480 490 500
AVEAAQAHQM APDMFYCMKL LEETGICVVP GSGFGQREGT YHFRMTILPP
510 520
VEKLKTVLQK VKDFHINFLE KYA
Length:523
Mass (Da):57,904
Last modified:June 1, 2002 - v1
Checksum:i4DD87814C62C7DEA
GO
Isoform 2 (identifier: Q8TD30-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-100: Missing.

Show »
Length:423
Mass (Da):46,983
Checksum:iC76C2613BE0CC4BF
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti284D → G in BAC04465 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073379153S → R in MRT49; loss of function mutation. 1 PublicationCorresponds to variant dbSNP:rs786203999EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0200081 – 100Missing in isoform 2. 1 PublicationAdd BLAST100

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY029173 mRNA Translation: AAK31794.2
AK094971 mRNA Translation: BAC04465.1
AC018845 Genomic DNA No translation available.
BC062555 mRNA Translation: AAH62555.1
CCDSiCCDS10725.1 [Q8TD30-1]
CCDS45478.1 [Q8TD30-2]
RefSeqiNP_001135938.1, NM_001142466.2 [Q8TD30-2]
NP_597700.1, NM_133443.3 [Q8TD30-1]
UniGeneiHs.460693

Genome annotation databases

EnsembliENST00000340124; ENSP00000345282; ENSG00000166123 [Q8TD30-1]
ENST00000440783; ENSP00000413804; ENSG00000166123 [Q8TD30-2]
GeneIDi84706
KEGGihsa:84706
UCSCiuc002eel.4 human [Q8TD30-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiALAT2_HUMAN
AccessioniPrimary (citable) accession number: Q8TD30
Secondary accession number(s): Q8N9E2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 25, 2006
Last sequence update: June 1, 2002
Last modified: June 20, 2018
This is version 128 of the entry and version 1 of the sequence. See 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

3D-structure, Complete proteome, Reference proteome

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