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Aliases for GGACT Gene

Aliases for GGACT Gene

  • Gamma-Glutamylamine Cyclotransferase 2 3 4 5
  • AIG2-Like Domain-Containing Protein 1 3 4
  • AIG2-Like Domain 1 2 3
  • A2LD1 3 4
  • Gamma-Glutamylaminecyclotransferase 3
  • EC 2.3.2.4 4

External Ids for GGACT Gene

Previous HGNC Symbols for GGACT Gene

  • A2LD1

Previous GeneCards Identifiers for GGACT Gene

  • GC13M101182

Summaries for GGACT Gene

Entrez Gene Summary for GGACT Gene

  • The protein encoded by this gene aids in the proteolytic degradation of crosslinked fibrin by breaking down isodipeptide L-gamma-glutamyl-L-epsilon-lysine, a byproduct of fibrin degradation. The reaction catalyzed by the encoded gamma-glutamylaminecyclotransferase produces 5-oxo-L-proline and a free alkylamine. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Aug 2010]

GeneCards Summary for GGACT Gene

GGACT (Gamma-Glutamylamine Cyclotransferase) is a Protein Coding gene. GO annotations related to this gene include gamma-glutamylcyclotransferase activity.

UniProtKB/Swiss-Prot for GGACT Gene

  • Contributes to degradation of proteins cross-linked by transglutaminases. Degrades the cross-link between a lysine and a glutamic acid residue from two proteins that have been cross-linked by transglutaminases. Catalyzes the formation of 5-oxoproline from L-gamma-glutamyl-L-epsilon-lysine. Inactive with L-gamma-glutamyl-alpha-amino acid substrates such as L-gamma-glutamyl-L-alpha-cysteine and L-gamma-glutamyl-L-alpha-alanine.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GGACT Gene

Genomics for GGACT Gene

Regulatory Elements for GGACT Gene

Enhancers for GGACT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G100549 1 FANTOM5 Ensembl ENCODE 21.4 +38.8 38790 1.6 CTCF SMARCA4 WT1 GGACT TMTC4 GC13P100544 GC13M100400
GH13G100514 1 Ensembl ENCODE 16.5 +74.7 74727 0.8 ELF3 CTCF MAX ZNF2 RAD21 GATA2 GLI2 ZSCAN5C ZNF143 SMC3 GGACT TMTC4 PIR61168 GC13P100490
GH13G100516 1 Ensembl ENCODE 16.5 +72.2 72161 1.5 ELF3 SOX13 DRAP1 TFAP4 SAP130 ZSCAN4 ARID4B MAX CEBPG RAD21 GGACT TMTC4 PIR61168 GC13P100490
GH13G100508 2 FANTOM5 ENCODE 8.1 +79.4 79362 3.1 PKNOX1 MXI1 FEZF1 ZNF488 ATF2 ZNF843 EP300 OSR2 PRDM6 CBX8 PCCA-AS1 GGACT TMTC4 GC13P100490 PIR61168
GH13G100543 1.1 Ensembl ENCODE 10.9 +45.3 45338 1.0 ELF3 ARID4B DMAP1 RAD21 THRB ZNF48 ZSCAN9 RARA CREM SP5 GGACT ENSG00000224356 GC13P100544 RPS26P47
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GGACT on UCSC Golden Path with GeneCards custom track

Promoters for GGACT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000065213 1028 1001 HDGF ATF1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 ETS1

Genomic Location for GGACT Gene

Chromosome:
13
Start:
100,530,164 bp from pter
End:
100,589,528 bp from pter
Size:
59,365 bases
Orientation:
Minus strand

Genomic View for GGACT Gene

Genes around GGACT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GGACT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GGACT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GGACT Gene

Proteins for GGACT Gene

  • Protein details for GGACT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVM4-GGACT_HUMAN
    Recommended name:
    Gamma-glutamylaminecyclotransferase
    Protein Accession:
    Q9BVM4
    Secondary Accessions:
    • B3KTN1
    • Q9BT41

    Protein attributes for GGACT Gene

    Size:
    153 amino acids
    Molecular mass:
    17329 Da
    Quaternary structure:
    • Monomer.
    SequenceCaution:
    • Sequence=AAH04360.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GGACT Gene

neXtProt entry for GGACT Gene

Post-translational modifications for GGACT Gene

No Post-translational modifications

No data available for DME Specific Peptides for GGACT Gene

Domains & Families for GGACT Gene

Protein Domains for GGACT Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for GGACT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BVM4

UniProtKB/Swiss-Prot:

GGACT_HUMAN :
  • Belongs to the gamma-glutamylcyclotransferase family.
Family:
  • Belongs to the gamma-glutamylcyclotransferase family.
genes like me logo Genes that share domains with GGACT: view

No data available for Gene Families for GGACT Gene

Function for GGACT Gene

Molecular function for GGACT Gene

UniProtKB/Swiss-Prot CatalyticActivity:
(Gamma-L-glutamyl)-L-amino acid = 5-oxoproline + L-amino acid.
UniProtKB/Swiss-Prot Function:
Contributes to degradation of proteins cross-linked by transglutaminases. Degrades the cross-link between a lysine and a glutamic acid residue from two proteins that have been cross-linked by transglutaminases. Catalyzes the formation of 5-oxoproline from L-gamma-glutamyl-L-epsilon-lysine. Inactive with L-gamma-glutamyl-alpha-amino acid substrates such as L-gamma-glutamyl-L-alpha-cysteine and L-gamma-glutamyl-L-alpha-alanine.

Enzyme Numbers (IUBMB) for GGACT Gene

Gene Ontology (GO) - Molecular Function for GGACT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003839 gamma-glutamylcyclotransferase activity IDA 20110353
GO:0005515 protein binding IPI 25416956
GO:0016740 transferase activity IEA --
GO:0016746 transferase activity, transferring acyl groups IEA --
genes like me logo Genes that share ontologies with GGACT: view

Phenotypes for GGACT Gene

genes like me logo Genes that share phenotypes with GGACT: view

Animal Model Products

CRISPR Products

miRNA for GGACT Gene

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for GGACT Gene

Localization for GGACT Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GGACT gene
Compartment Confidence
extracellular 5
mitochondrion 2
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for GGACT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with GGACT: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GGACT Gene

Pathways & Interactions for GGACT Gene

SuperPathways for GGACT Gene

No Data Available

Interacting Proteins for GGACT Gene

Gene Ontology (GO) - Biological Process for GGACT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042219 cellular modified amino acid catabolic process IDA 20110353
genes like me logo Genes that share ontologies with GGACT: view

No data available for Pathways by source and SIGNOR curated interactions for GGACT Gene

Drugs & Compounds for GGACT Gene

(1) Drugs for GGACT Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Formic acid Experimental Pharma Target 0

(1) Additional Compounds for GGACT Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Pyrrolidonecarboxylic acid
  • (+)-2-Pyrrolidone-5-carboxylate
  • (+)-2-Pyrrolidone-5-carboxylic acid
  • (+)-Pyroglutamate
  • (+)-Pyroglutamic acid
  • (2R)-2-Carboxy-5-pyrrolidinone
4042-36-8
genes like me logo Genes that share compounds with GGACT: view

Transcripts for GGACT Gene

mRNA/cDNA for GGACT Gene

(5) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(6) Selected AceView cDNA sequences:
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for GGACT Gene

Gamma-glutamylamine cyclotransferase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GGACT Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c
SP1:
SP2: - - - - - -
SP3: - - - - -
SP4:

Relevant External Links for GGACT Gene

GeneLoc Exon Structure for
GGACT
ECgene alternative splicing isoforms for
GGACT

Expression for GGACT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GGACT Gene

mRNA differential expression in normal tissues according to GTEx for GGACT Gene

This gene is overexpressed in Kidney - Cortex (x7.0).

Protein differential expression in normal tissues from HIPED for GGACT Gene

This gene is overexpressed in Kidney (17.6), Peripheral blood mononuclear cells (13.9), and Urine (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GGACT Gene



Protein tissue co-expression partners for GGACT Gene

NURSA nuclear receptor signaling pathways regulating expression of GGACT Gene:

GGACT

SOURCE GeneReport for Unigene cluster for GGACT Gene:

Hs.350868

Evidence on tissue expression from TISSUES for GGACT Gene

  • Lung(4.3)
  • Kidney(2.9)
  • Spleen(2)
genes like me logo Genes that share expression patterns with GGACT: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GGACT Gene

Orthologs for GGACT Gene

This gene was present in the common ancestor of animals.

Orthologs for GGACT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GGACT 34 35
  • 99.35 (n)
cow
(Bos Taurus)
Mammalia GGACT 34 35
  • 78.55 (n)
mouse
(Mus musculus)
Mammalia Ggact 34 16 35
  • 74.43 (n)
dog
(Canis familiaris)
Mammalia GGACT 34 35
  • 73.64 (n)
rat
(Rattus norvegicus)
Mammalia Ggact 34
  • 72.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia GGACT 35
  • 58 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GGACT 35
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves A2LD1 34
  • 67.32 (n)
GGACT 35
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GGACT 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ggact 34
  • 55.02 (n)
zebrafish
(Danio rerio)
Actinopterygii ggact.2 34 35
  • 56.09 (n)
ggact.3 35
  • 48 (a)
OneToMany
ggact.1 35
  • 42 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010682 34
  • 56.91 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2811 34 35
  • 53.69 (n)
Tina-1 35
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F42A10.9 34 35
  • 46.72 (n)
Species where no ortholog for GGACT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GGACT Gene

ENSEMBL:
Gene Tree for GGACT (if available)
TreeFam:
Gene Tree for GGACT (if available)

Paralogs for GGACT Gene

No data available for Paralogs for GGACT Gene

Variants for GGACT Gene

Sequence variations from dbSNP and Humsavar for GGACT Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs200007489 Likely benign 100,530,223(+) TGCTT(-/TCAC)ACACA nc-transcript-variant, utr-variant-3-prime
rs886049930 Likely benign 100,530,324(+) AAAAA(-/A)TCACC nc-transcript-variant, utr-variant-3-prime
rs113356477 Uncertain significance 100,530,325(+) AAAAA(G/T)CACCA nc-transcript-variant, utr-variant-3-prime
rs150352833 Uncertain significance 100,530,151(+) CTGCT(C/T)GTGGA nc-transcript-variant, downstream-variant-500B, reference, synonymous-codon, utr-variant-3-prime
rs41281122 Uncertain significance 100,530,281(+) TACGT(C/T)GTCAT nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for GGACT Gene

Variant ID Type Subtype PubMed ID
dgv377e199 CNV deletion 23128226
esv2665237 CNV deletion 23128226
esv3580861 CNV loss 25503493
esv3582760 CNV gain 25503493
esv3633347 CNV loss 21293372
esv3633348 CNV loss 21293372
nsv1037414 CNV loss 25217958
nsv7247 OTHER inversion 18451855
nsv826767 CNV loss 20364138
nsv977274 CNV duplication 23825009

Variation tolerance for GGACT Gene

Gene Damage Index Score: 2.53; 44.17% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GGACT Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GGACT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GGACT Gene

Disorders for GGACT Gene

Relevant External Links for GGACT

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GGACT

No disorders were found for GGACT Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for GGACT Gene

Publications for GGACT Gene

  1. Identification and characterization of gamma-glutamylamine cyclotransferase, an enzyme responsible for gamma-glutamyl-epsilon- lysine catabolism. (PMID: 20110353) Oakley A.J. … Board P.G. (J. Biol. Chem. 2010) 2 3 4 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  4. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3 64
  5. In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. (PMID: 23533145) Principe S. … Drake R.R. (Proteomics 2013) 3 64

Products for GGACT Gene

Sources for GGACT Gene

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