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    RIMKLA ribosomal modification protein rimK like family member A [ Homo sapiens (human) ]

    Gene ID: 284716, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RIMKLAprovided by HGNC
    Official Full Name
    ribosomal modification protein rimK like family member Aprovided by HGNC
    Primary source
    HGNC:HGNC:28725
    See related
    Ensembl:ENSG00000177181 MIM:618949; AllianceGenome:HGNC:28725
    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
    NAAGS; FAM80A; NAAGS2; NAAGS-II
    Summary
    Predicted to enable N-acetyl-L-aspartate-L-glutamate ligase activity. Predicted to be involved in glutamine family amino acid metabolic process. Predicted to be located in cytosol. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in brain (RPKM 2.6), colon (RPKM 1.6) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1p34.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (42380792..42424232)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (42251175..42294608)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (42846463..42889903)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:42630276-42631240 Neighboring gene Sharpr-MPRA regulatory region 9331 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:42638778-42639405 Neighboring gene guanylate cyclase activator 2A Neighboring gene Sharpr-MPRA regulatory region 10195 Neighboring gene forkhead box J3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 757 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:42799881-42800838 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 761 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 760 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 759 Neighboring gene ribosomal protein S15a pseudogene 8 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 893 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 894 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 762 Neighboring gene zinc finger MYND-type containing 12 Neighboring gene coiled-coil domain containing 30 Neighboring gene phosphopantothenoylcysteine synthetase

    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. Molecular identification of N-acetylaspartylglutamate synthase and beta-citrylglutamate synthase. Collard F, et al. J Biol Chem, 2010 Sep 24. PMID 20657015, Free PMC Article
    2. N-acetylaspartylglutamate synthetase II synthesizes N-acetylaspartylglutamylglutamate. Lodder-Gadaczek J, et al. J Biol Chem, 2011 May 13. PMID 21454531, Free PMC Article
    3. A central chaperone-like role for 14-3-3 proteins in human cells. Segal D, et al. Mol Cell, 2023 Mar 16. PMID 36931259
    4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
    5. RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation. Wu SF, et al. Proc Natl Acad Sci U S A, 2020 Jun 23. PMID 32513696, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC47816

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables N-acetyl-L-aspartate-L-glutamate ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables N-acetyl-L-aspartate-L-glutamate ligase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables N-acetyl-L-aspartate-L-glutamate ligase activity TAS
    Traceable Author Statement
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in glutamine family amino acid metabolic process TAS
    Traceable Author Statement
    more info
    		  
    involved_in protein modification process IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    N-acetylaspartylglutamate synthase A
    Names
    N-acetylaspartyl-glutamate synthetase A
    N-acetylaspartylglutamate synthetase II
    N-acetylaspartylglutamylglutamate synthase A
    NAAG synthetase A
    RP11-157D18.1
    family with sequence similarity 80, member A
    ribosomal protein S6 modification-like protein A
    NP_775913.2
    XP_006710648.1
    XP_047274440.1
    XP_054192123.1
    XP_054192124.1

    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_173642.4 → NP_775913.2  N-acetylaspartylglutamate synthase A

      See identical proteins and their annotated locations for NP_775913.2

      Status: VALIDATED

      Source sequence(s)
      AL513331, BC039737, BX094947, DR000262
      Consensus CDS
      CCDS466.2
      UniProtKB/Swiss-Prot
      Q5VUS5, Q8IXN7
      Related
      ENSP00000414330.2, ENST00000431473.4
      Conserved Domains (1) summary
      cl17255
      Location:5 → 298
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      42380792..42424232
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418484.1 → XP_047274440.1  N-acetylaspartylglutamate synthase A isoform X1

    2. XM_006710585.4 → XP_006710648.1  N-acetylaspartylglutamate synthase A isoform X2

      Conserved Domains (2) summary
      pfam16508
      Location:67 → 108
      NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
      cl17255
      Location:110 → 176
      ATP-grasp_4; ATP-grasp domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      42251175..42294608
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336148.1 → XP_054192123.1  N-acetylaspartylglutamate synthase A isoform X1

    2. XM_054336149.1 → XP_054192124.1  N-acetylaspartylglutamate synthase A isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IXN7.2 GenPept UniProtKB/Swiss-Prot:Q8IXN7

    Gene LinkOut

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