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

    Gene ID: 284716, updated on 9-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Biased expression in brain (RPKM 2.6), colon (RPKM 1.6) and 10 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RIMKLA in Genome Data Viewer
    Location:
    1p34.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (42380792..42424232)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (42251175..42294608)
    RS_2024_09 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

    Expression

    • 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_173642.4NP_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:5298
      CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding 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_000001.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

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

      Conserved Domains (2) summary
      pfam16508
      Location:67108
      NIBRIN_BRCT_II; Second BRCT domain on Nijmegen syndrome breakage protein
      cl17255
      Location:110176
      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_054336148.1XP_054192123.1  N-acetylaspartylglutamate synthase A isoform X1

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