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Aliases for RIMKLA Gene

Aliases for RIMKLA Gene

  • Ribosomal Modification Protein RimK Like Family Member A 2 3 5
  • Ribosomal Protein S6 Modification-Like Protein A 3 4
  • Family With Sequence Similarity 80, Member A 2 3
  • N-Acetylaspartylglutamylglutamate Synthase A 3 4
  • N-Acetylaspartylglutamate Synthetase II 2 3
  • NAAG Synthetase A 3 4
  • FAM80A 3 4
  • NAAGS 3 4
  • N-Acetylaspartyl-Glutamate Synthetase A 3
  • N-Acetylaspartylglutamate Synthase A 3
  • RP11-157D18.1 3
  • EC 6.3.2.41 4
  • EC 6.3.2.42 4
  • NAAGS-II 3

External Ids for RIMKLA Gene

Previous HGNC Symbols for RIMKLA Gene

  • FAM80A

Previous GeneCards Identifiers for RIMKLA Gene

  • GC01P042620
  • GC01P042846
  • GC01P040966

Summaries for RIMKLA Gene

GeneCards Summary for RIMKLA Gene

RIMKLA (Ribosomal Modification Protein RimK Like Family Member A) is a Protein Coding gene. Among its related pathways are Alanine, aspartate and glutamate metabolism and Metabolism. GO annotations related to this gene include glutathione synthase activity and N-acetyl-L-aspartate-L-glutamate ligase activity. An important paralog of this gene is RIMKLB.

UniProtKB/Swiss-Prot for RIMKLA Gene

  • Catalyzes the synthesis of N-acetyl-L-aspartyl-L-glutamate (NAAG) and N-acetyl-L-aspartyl-L-glutamyl-L-glutamate.

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIMKLA Gene

Genomics for RIMKLA Gene

Regulatory Elements for RIMKLA Gene

Enhancers for RIMKLA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01F042170 1.2 Ensembl ENCODE 4.3 -207.3 -207341 5.8 ELF3 PKNOX1 ZNF133 GLI4 ZNF2 RAD21 RARA GLIS2 ZNF143 EGR2 FOXJ3 C1orf50 SVBP RIMKLA GC01P042164 GC01M042279 PIR49391
GH01F041888 0.9 FANTOM5 2.6 -492.0 -492017 0.4 HDGF ZNF211 ZNF146 ZNF493 ZNF175 YBX1 CDC5L ZNF791 GLIS2 ZBTB48 FOXJ3 ENSG00000235358 HIVEP3 RIMKLA PIR53563
GH01F042469 0.5 FANTOM5 2.2 +88.5 88474 0.4 TFDP1 MTA2 POLR2A RNU6-536P ENSG00000236180 PPIH RIMKLA CCDC30 RPS3AP11
GH01F042598 0.5 FANTOM5 1.2 +217.4 217445 0.4 RFX1 RFX3 ZBTB26 SVBP ENSG00000236180 RNU6-536P PPIH P3H1 YBX1 CLDN19 CCDC30 RIMKLA GC01M042626
GH01F042308 0.3 FANTOM5 1.7 -71.7 -71732 0.1 RNU6-536P ENSG00000236180 YBX1 PPIH FOXJ3 RIMKLA CCDC30 ZMYND12 GC01M042279 PIR49391
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RIMKLA on UCSC Golden Path with GeneCards custom track

Promoters for RIMKLA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000076727 5 1201 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF766 ZNF143 FOS

Genomic Location for RIMKLA Gene

Chromosome:
1
Start:
42,380,795 bp from pter
End:
42,424,229 bp from pter
Size:
43,435 bases
Orientation:
Plus strand

Genomic View for RIMKLA Gene

Genes around RIMKLA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIMKLA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIMKLA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIMKLA Gene

Proteins for RIMKLA Gene

  • Protein details for RIMKLA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IXN7-RIMKA_HUMAN
    Recommended name:
    N-acetylaspartylglutamate synthase A
    Protein Accession:
    Q8IXN7
    Secondary Accessions:
    • Q5VUS5

    Protein attributes for RIMKLA Gene

    Size:
    391 amino acids
    Molecular mass:
    42864 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • N-acetyl-L-aspartyl-L-glutamate (NAAG) is the most abundant dipeptide present in vertebrate central nervous system (CNS).
    SequenceCaution:
    • Sequence=AAH39737.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH70661.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

neXtProt entry for RIMKLA Gene

Post-translational modifications for RIMKLA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RIMKLA Gene

No data available for DME Specific Peptides for RIMKLA Gene

Domains & Families for RIMKLA Gene

Suggested Antigen Peptide Sequences for RIMKLA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IXN7

UniProtKB/Swiss-Prot:

RIMKA_HUMAN :
  • Contains 1 ATP-grasp domain.
  • Belongs to the RimK family.
Domain:
  • Contains 1 ATP-grasp domain.
Family:
  • Belongs to the RimK family.
genes like me logo Genes that share domains with RIMKLA: view

No data available for Gene Families for RIMKLA Gene

Function for RIMKLA Gene

Molecular function for RIMKLA Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + N-acetyl-L-aspartate + L-glutamate = ADP + phosphate + N-acetyl-L-aspartyl-L-glutamate.
UniProtKB/Swiss-Prot CatalyticActivity:
2 ATP + N-acetyl-L-aspartate + 2 L-glutamate = 2 ADP + 2 phosphate + N-acetyl-L-aspartyl-L-glutamyl-L-glutamate.
UniProtKB/Swiss-Prot Function:
Catalyzes the synthesis of N-acetyl-L-aspartyl-L-glutamate (NAAG) and N-acetyl-L-aspartyl-L-glutamyl-L-glutamate.

Enzyme Numbers (IUBMB) for RIMKLA Gene

Gene Ontology (GO) - Molecular Function for RIMKLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0072590 N-acetyl-L-aspartate-L-glutamate ligase activity IEA,ISS --
genes like me logo Genes that share ontologies with RIMKLA: view

Phenotypes for RIMKLA Gene

genes like me logo Genes that share phenotypes with RIMKLA: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for RIMKLA Gene

Localization for RIMKLA Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIMKLA Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RIMKLA gene
Compartment Confidence
nucleus 4
cytosol 3

Gene Ontology (GO) - Cellular Components for RIMKLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA --
genes like me logo Genes that share ontologies with RIMKLA: view

Pathways & Interactions for RIMKLA Gene

genes like me logo Genes that share pathways with RIMKLA: view

Pathways by source for RIMKLA Gene

Interacting Proteins for RIMKLA Gene

Gene Ontology (GO) - Biological Process for RIMKLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process IEA --
genes like me logo Genes that share ontologies with RIMKLA: view

No data available for SIGNOR curated interactions for RIMKLA Gene

Drugs & Compounds for RIMKLA Gene

(4) Drugs for RIMKLA Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine triphosphate Approved Nutra 0
Manganese Approved Nutra 34
L-Glutamic Acid Nutra Full agonist, Agonist 0

(2) Additional Compounds for RIMKLA Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
N-Acetyl-L-aspartic acid
  • (2S)-2-acetamidobutanedioate
  • (2S)-2-acetamidobutanedioic acid
  • (S)-2-(acetylamino)butanedioate
  • (S)-2-(acetylamino)butanedioic acid
  • (S)-2-(acetylamino)succinic acid
997-55-7
genes like me logo Genes that share compounds with RIMKLA: view

Transcripts for RIMKLA Gene

mRNA/cDNA for RIMKLA Gene

Unigene Clusters for RIMKLA Gene

Ribosomal modification protein rimK-like family member A:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RIMKLA Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6
SP1: -
SP2:

Relevant External Links for RIMKLA Gene

GeneLoc Exon Structure for
RIMKLA
ECgene alternative splicing isoforms for
RIMKLA

Expression for RIMKLA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RIMKLA Gene

mRNA differential expression in normal tissues according to GTEx for RIMKLA Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.7), Brain - Cortex (x5.6), and Brain - Anterior cingulate cortex (BA24) (x4.9).

Protein differential expression in normal tissues from HIPED for RIMKLA Gene

This gene is overexpressed in Pancreatic juice (27.2), Spinal cord (19.1), Retina (14.8), and Frontal cortex (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RIMKLA Gene



Protein tissue co-expression partners for RIMKLA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RIMKLA Gene:

RIMKLA

SOURCE GeneReport for Unigene cluster for RIMKLA Gene:

Hs.420244
genes like me logo Genes that share expression patterns with RIMKLA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for RIMKLA Gene

Orthologs for RIMKLA Gene

This gene was present in the common ancestor of chordates.

Orthologs for RIMKLA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RIMKLA 34 35
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia RIMKLA 34 35
  • 91.82 (n)
cow
(Bos Taurus)
Mammalia RIMKLA 34 35
  • 91.39 (n)
oppossum
(Monodelphis domestica)
Mammalia RIMKLA 35
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rimkla 34 16 35
  • 87.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RIMKLA 35
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rimkla 35
  • 65 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5186 34
Species where no ortholog for RIMKLA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RIMKLA Gene

ENSEMBL:
Gene Tree for RIMKLA (if available)
TreeFam:
Gene Tree for RIMKLA (if available)

Paralogs for RIMKLA Gene

Paralogs for RIMKLA Gene

(1) SIMAP similar genes for RIMKLA Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RIMKLA: view

Variants for RIMKLA Gene

Sequence variations from dbSNP and Humsavar for RIMKLA Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs10047066 -- 42,389,527(+) tgctg(C/G)taggc intron-variant
rs10047128 -- 42,389,536(+) gccag(A/G)cacag intron-variant
rs10157078 -- 42,425,879(+) GAGAT(G/T)ATCCT downstream-variant-500B
rs10443266 -- 42,385,891(+) ctttc(C/T)ttctt intron-variant
rs10443267 -- 42,388,019(+) atctg(A/G)aggta intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RIMKLA Gene

Variant ID Type Subtype PubMed ID
nsv945902 CNV duplication 23825009
esv3577824 CNV loss 25503493
esv28389 CNV loss 19812545

Variation tolerance for RIMKLA Gene

Residual Variation Intolerance Score: 49.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.69; 32.29% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RIMKLA Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIMKLA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIMKLA Gene

Disorders for RIMKLA Gene

Relevant External Links for RIMKLA

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RIMKLA

No disorders were found for RIMKLA Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RIMKLA Gene

Publications for RIMKLA Gene

  1. N-acetylaspartylglutamate synthetase II synthesizes N-acetylaspartylglutamylglutamate. (PMID: 21454531) Lodder-Gadaczek J. … Eckhardt M. (J. Biol. Chem. 2011) 2 3 64
  2. Molecular identification of N-acetylaspartylglutamate synthase and beta-citrylglutamate synthase. (PMID: 20657015) Collard F. … Van Schaftingen E. (J. Biol. Chem. 2010) 2 3 64
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64

Products for RIMKLA Gene

Sources for RIMKLA Gene

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