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

Gene ID: 284716, updated on 2-Nov-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, Nov 2024]
Expression
Biased expression in brain (RPKM 2.6), colon (RPKM 1.6) and 10 other tissues See more
Orthologs
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues 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. Ribosomal modification protein rimK-like family member A activates betaine-homocysteine S-methyltransferase 1 to ameliorate hepatic steatosis. Yan H, et al. Signal Transduct Target Ther, 2024 Aug 8. PMID 39117631, Free PMC Article
  2. 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
  3. N-acetylaspartylglutamate synthetase II synthesizes N-acetylaspartylglutamylglutamate. Lodder-Gadaczek J, et al. J Biol Chem, 2011 May 13. PMID 21454531, Free PMC Article
  4. A central chaperone-like role for 14-3-3 proteins in human cells. Segal D, et al. Mol Cell, 2023 Mar 16. PMID 36931259
  5. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414

See all (14) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Ribosomal modification protein rimK-like family member A activates betaine-homocysteine S-methyltransferase 1 to ameliorate hepatic steatosis.
    Title: Ribosomal modification protein rimK-like family member A activates betaine-homocysteine S-methyltransferase 1 to ameliorate hepatic steatosis.
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)

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_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_047418484.1 → 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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