Free for academic non-profit institutions. Other users need a Commercial license

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 Metabolism and Alanine, aspartate and glutamate metabolism. Gene Ontology (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.

Additional gene information for RIMKLA Gene

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

Genomics for RIMKLA Gene

GeneHancer (GH) Regulatory Elements for RIMKLA Gene

Promoters and enhancers for RIMKLA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I042380 Promoter 1.6 EPDnew Ensembl 556.2 +0.0 6 0.8 ARID4B SIN3A DMAP1 ZEB1 ZNF335 GLIS2 EGR2 SP3 ZBTB11 NFYC RIMKLA GC01M042415
GH01I042170 Enhancer 1.1 Ensembl ENCODE 4.3 -207.3 -207341 5.8 ELF3 PKNOX1 ZSCAN4 ZNF133 GLI4 ZNF2 IRF4 RAD21 RARA ZNF766 FOXJ3 C1orf50 SVBP RIMKLA GC01P042164 GC01M042279 PIR49391
GH01I041888 Enhancer 1 FANTOM5 dbSUPER 2.6 -492.0 -492017 0.4 HDGF ZNF493 YBX1 GLIS2 ATF7 ZNF114 ZNF662 ZNF398 ZNF488 KLF16 PIR53563 FOXJ3 PPIH HIVEP3 RIMKLA
GH01I042469 Enhancer 0.2 FANTOM5 2.2 +88.5 88474 0.4 RNU6-536P ENSG00000236180 PPIH RIMKLA CCDC30 PPCS RPS3AP11
GH01I042598 Enhancer 0.3 FANTOM5 1.2 +217.4 217445 0.4 ATF4 SVBP ENSG00000236180 RNU6-536P PPIH P3H1 YBX1 CLDN19 CCDC30 RIMKLA GC01M042626
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RIMKLA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RIMKLA gene promoter:

Genomic Locations for RIMKLA Gene

Genomic Locations for RIMKLA Gene
chr1:42,380,795-42,424,229
(GRCh38/hg38)
Size:
43,435 bases
Orientation:
Plus strand
chr1:42,846,466-42,889,900
(GRCh37/hg19)

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

No Post-translational modifications

Other Protein References for RIMKLA Gene

No data available for DME Specific Peptides for RIMKLA Gene

Domains & Families for RIMKLA Gene

Gene Families for RIMKLA Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

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 :
  • Belongs to the RimK family.
Family:
  • Belongs to the RimK family.
genes like me logo Genes that share domains with RIMKLA: view

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 TAS,IEA --
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

CRISPR Products

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , 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
cytosol 5
nucleus 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli fibrillar center (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for RIMKLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
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

Gene Ontology (GO) - Biological Process for RIMKLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process IEA --
GO:0008652 cellular amino acid biosynthetic process TAS --
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
Glutamic Acid Approved Nutra Full agonist, Agonist 251
Manganese Approved Nutra 37
ATP Investigational Nutra 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:

CRISPR Products

Inhibitory RNA 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 CGAP 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

Evidence on tissue expression from TISSUES for RIMKLA Gene

  • Pancreas(4)
  • Nervous system(3.3)
genes like me logo Genes that share expression patterns with RIMKLA: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia RIMKLA 33 34
  • 91.82 (n)
cow
(Bos Taurus)
Mammalia RIMKLA 33 34
  • 91.39 (n)
oppossum
(Monodelphis domestica)
Mammalia RIMKLA 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rimkla 33 16 34
  • 87.02 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RIMKLA 34
  • 72 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii rimkla 34
  • 65 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5186 33
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 Variation AA Info Type
rs1000188427 -- 42,390,002(+) A/G intron_variant
rs1000209217 -- 42,410,558(+) G/T intron_variant
rs1000444222 -- 42,422,142(+) A/G 3_prime_UTR_variant
rs1000533227 -- 42,394,781(+) G/C intron_variant
rs1000576480 -- 42,415,836(+) G/A 3_prime_UTR_variant

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

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

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)

Additional Variant Information for RIMKLA Gene

Human Gene Mutation Database (HGMD)
RIMKLA
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

Additional Disease Information for 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 (The Journal of biological chemistry 2011) 2 3 58
  2. Molecular identification of N-acetylaspartylglutamate synthase and beta-citrylglutamate synthase. (PMID: 20657015) Collard F … Van Schaftingen E (The Journal of biological chemistry 2010) 2 3 58
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58

Products for RIMKLA Gene

Sources for RIMKLA Gene

Content
Loading form....