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    LOC102724023 glutamine amidotransferase class 1 domain containing 3B [ Homo sapiens (human) ]

    Gene ID: 102724023, updated on 27-Nov-2024

    Summary

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    Gene symbol
    LOC102724023
    Gene description
    glutamine amidotransferase class 1 domain containing 3B
    See related
    Ensembl:ENSG00000280071
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    KNP-I; GATD3B
    Annotation information
    Note: GeneID:102724023 is on a scaffold that is thought to be a false duplication and thus this gene is likely redundant with GeneID:8209. [11 Jun 2021]
    Expression
    Ubiquitous expression in kidney (RPKM 35.0), heart (RPKM 22.7) and 25 other tissues See more
    Orthologs
    all
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    Genomic context

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    See LOC102724023 in Genome Data Viewer
    Location:
    21p12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (5116341..5128369, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene putative proline-rich protein 21 Neighboring gene uncharacterized CH507-9B2.8 Neighboring gene uncharacterized LOC101928576 Neighboring gene periodic tryptophan protein 2 homolog Neighboring gene trafficking protein particle complex subunit 10-like

    Genomic regions, transcripts, and products

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    Genomic Sequence:
    NC_000021.9 Chromosome 21 Reference GRCh38.p14 Primary Assembly

    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. Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3. Lafrenière RG, et al. Genomics, 1996 Dec 15. PMID 8975701
    2. Isolation of cDNA for a novel human protein KNP-I that is homologous to the E. coli SCRP-27A protein from the autoimmune polyglandular disease type I (APECED) region of chromosome 21q22.3. Nagamine K, et al. Biochem Biophys Res Commun, 1996 Aug 14. PMID 8753807
    3. Oncogenic functions of protein kinase D2 and D3 in regulating multiple cancer-related pathways in breast cancer. Liu Y, et al. Cancer Med, 2019 Feb. PMID 30652415, Free PMC Article
    4. O-GlcNAcylation of SPOP promotes carcinogenesis in hepatocellular carcinoma. Zhou P, et al. Oncogene, 2023 Mar. PMID 36604567
    5. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See studies and variants in dbVar

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Clone Names

    • MGC3859, MGC8510

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    is_active_in mitochondrion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    putative glutamine amidotransferase-like class 1 domain-containing protein 3B, mitochondrial
    Names
    ES1 protein homolog, mitochondrial
    glutamine amidotransferase like class 1 domain containing 3B
    glutamine amidotransferase-like class 1 domain-containing protein 3B, mitochondrial
    keio novel protein-I

    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_001363758.2 → NP_001350687.1  putative glutamine amidotransferase-like class 1 domain-containing protein 3B, mitochondrial isoform 1

      Status: VALIDATED

      Source sequence(s)
      BX353477, CN291933, FP565260
      UniProtKB/Swiss-Prot
      A0A0B4J2D5
      Related
      ENST00000620528.5
      Conserved Domains (1) summary
      cd03133
      Location:45 → 266
      GATase1_ES1; Type 1 glutamine amidotransferase (GATase1)-like domain found in zebrafish ES1

    2. NM_001363760.2 → NP_001350689.1  putative glutamine amidotransferase-like class 1 domain-containing protein 3B, mitochondrial isoform 2

      Status: VALIDATED

      Source sequence(s)
      D86062, FP565260
      Conserved Domains (1) summary
      cl00020
      Location:45 → 235
      GAT_1; Type 1 glutamine amidotransferase (GATase1)-like domain

    3. NM_001363761.2 → NP_001350690.1  putative glutamine amidotransferase-like class 1 domain-containing protein 3B, mitochondrial isoform 3

      Status: VALIDATED

      Source sequence(s)
      BE297974, CN291936, D86062, FP565260
      UniProtKB/TrEMBL
      H7C2G3
      Conserved Domains (1) summary
      cl00020
      Location:1 → 180
      GAT_1; Type 1 glutamine amidotransferase (GATase1)-like domain

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      5116341..5128369 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A0A0B4J2D5.1 GenPept UniProtKB/Swiss-Prot:A0A0B4J2D5

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