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    GGACT gamma-glutamylamine cyclotransferase [ Homo sapiens (human) ]

    Gene ID: 87769, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GGACTprovided by HGNC
    Official Full Name
    gamma-glutamylamine cyclotransferaseprovided by HGNC
    Primary source
    HGNC:HGNC:25100
    See related
    Ensembl:ENSG00000134864 MIM:613378; AllianceGenome:HGNC:25100
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    A2LD1
    Summary
    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]
    Expression
    Biased expression in kidney (RPKM 12.0), fat (RPKM 1.8) and 13 other tissues See more
    Orthologs
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    Genomic context

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    See GGACT in Genome Data Viewer
    Location:
    13q32.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (100530180..100588789, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (99745466..99804072, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (101182434..101241043, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene propionyl-CoA carboxylase subunit alpha Neighboring gene uncharacterized LOC107984574 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:101144770-101145270 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:101145271-101145771 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:101154747-101155384 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:101161543-101162161 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:101162781-101163398 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr13:101162162-101162780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:101169316-101170040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:101171491-101172156 Neighboring gene PCCA antisense RNA 1 Neighboring gene RPL7L1 pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:101177366-101177888 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:101182623-101183592 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7960 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:101196750-101197473 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:101198945-101199623 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:101197474-101198196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:101199624-101200301 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5477 Neighboring gene ribosomal protein S26 pseudogene 47 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:101279471-101279992 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:101311281-101311784 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:101325425-101326314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5478 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5479 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5480 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7961 Neighboring gene cytochrome c oxidase subunit 5B pseudogene 6 Neighboring gene transmembrane O-mannosyltransferase targeting cadherins 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:101350546-101351126 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr13:101390455-101391100 Neighboring gene NALCN antisense RNA 1 Neighboring gene ARF GTPase 4 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of gamma-glutamylamine cyclotransferase, an enzyme responsible for gamma-glutamyl-epsilon-lysine catabolism. Oakley AJ, et al. J Biol Chem, 2010 Mar 26. PMID 20110353, Free PMC Article
    2. In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Principe S, et al. Proteomics, 2013 May. PMID 23533145, Free PMC Article
    3. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. Prunotto M, et al. J Proteomics, 2013 Apr 26. PMID 23376485
    4. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (11) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. gamma-glutamylamine cyclotransferase is an enzyme responsible for gamma-glutamyl-epsilon-lysine catabolism
      Title: Identification and characterization of gamma-glutamylamine cyclotransferase, an enzyme responsible for gamma-glutamyl-epsilon-lysine catabolism.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables gamma-glutamylaminecyclotransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in modified amino acid catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular exosome HDA PubMed 

    General protein information

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    Preferred Names
    gamma-glutamylaminecyclotransferase
    Names
    AIG2-like domain 1
    AIG2-like domain-containing protein 1
    NP_001182016.1
    NP_149101.1
    XP_011519431.1
    XP_047286664.1
    XP_054231054.1
    XP_054231055.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001195087.2 → NP_001182016.1  gamma-glutamylaminecyclotransferase

      See identical proteins and their annotated locations for NP_001182016.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants encode the same protein.
      Source sequence(s)
      AK095850, AL136526
      Consensus CDS
      CCDS45066.1
      UniProtKB/Swiss-Prot
      B3KTN1, Q9BT41, Q9BVM4
      Related
      ENSP00000508020.1, ENST00000683975.1
      Conserved Domains (1) summary
      pfam06094
      Location:4 → 138
      GGACT; Gamma-glutamyl cyclotransferase, AIG2-like

    2. NM_033110.3 → NP_149101.1  gamma-glutamylaminecyclotransferase

      See identical proteins and their annotated locations for NP_149101.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants encode the same protein.
      Source sequence(s)
      AL136526, DA628207
      Consensus CDS
      CCDS45066.1
      UniProtKB/Swiss-Prot
      B3KTN1, Q9BT41, Q9BVM4
      Related
      ENSP00000410449.1, ENST00000455100.2
      Conserved Domains (1) summary
      pfam06094
      Location:4 → 138
      GGACT; Gamma-glutamyl cyclotransferase, AIG2-like

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      100530180..100588789 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430708.1 → XP_047286664.1  gamma-glutamylaminecyclotransferase isoform X1

      UniProtKB/Swiss-Prot
      B3KTN1, Q9BT41, Q9BVM4

    2. XM_011521129.4 → XP_011519431.1  gamma-glutamylaminecyclotransferase isoform X1

      See identical proteins and their annotated locations for XP_011519431.1

      UniProtKB/Swiss-Prot
      B3KTN1, Q9BT41, Q9BVM4
      Conserved Domains (1) summary
      pfam06094
      Location:4 → 138
      GGACT; Gamma-glutamyl cyclotransferase, AIG2-like

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      99745466..99804072 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375080.1 → XP_054231055.1  gamma-glutamylaminecyclotransferase isoform X1

      UniProtKB/Swiss-Prot
      B3KTN1, Q9BT41, Q9BVM4

    2. XM_054375079.1 → XP_054231054.1  gamma-glutamylaminecyclotransferase isoform X1

      UniProtKB/Swiss-Prot
      B3KTN1, Q9BT41, Q9BVM4
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BVM4.2 GenPept UniProtKB/Swiss-Prot:Q9BVM4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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