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

Gene ID: 102724023, updated on 10-Mar-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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Location:
21p12
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 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. Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function. Floyd BJ, et al. Mol Cell, 2016 Aug 18. PMID 27499296, Free PMC Article
  5. FBW7 suppresses ovarian cancer development by targeting the N(6)-methyladenosine binding protein YTHDF2. Xu F, et al. Mol Cancer, 2021 Mar 3. PMID 33658012, Free PMC Article

See all (10) 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

Genotypes

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

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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_2023_10

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

Gene LinkOut

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Molecular Biology Databases
Research Materials