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
  • N-Acetylaspartylglutamate Synthase A 3 4
  • NAAG Synthetase A 3 4
  • RP11-157D18.1 2 3
  • NAAGS-II 2 3
  • FAM80A 3 4
  • NAAGS 3 4
  • N-Acetylaspartyl-Glutamate Synthetase A 3
  • EC 6.3.2.41 4
  • EC 6.3.2.42 4
  • MGC47816 2
  • RIMKLA 5

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 Summary 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 , Rfam classification and piRNA Summary for RIMKLA Gene

Genomics for RIMKLA Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH01J042380 Promoter 1.6 EPDnew Ensembl CraniofacialAtlas 606.1 +0.0 9 2 REST ZNF692 LARP7 ZIC2 RBFOX2 POLR2A PATZ1 EZH2 ZNF600 ZBTB20 RIMKLA piR-42694-008 CCDC30
GH01J042170 Enhancer 0.8 ENCODE 4.3 -207.3 -207338 5.8 CEBPG CTCF SOX13 ZNF692 ZNF7 ZNF143 ZIC2 ZSCAN4 PKNOX1 RXRB FOXJ3 C1orf50 SVBP RIMKLA GUCA2A MN309174-004
GH01J041391 Enhancer 0.6 Ensembl CraniofacialAtlas 4.8 -989.1 -989091 1.4 SCRT2 ZBTB20 SCRT1 BCOR ZNF184 FOXO6 RIMKLA HSALNG0002949 FOXO6-AS1 EDN2
GH01J041888 Enhancer 1 FANTOM5 dbSUPER 2.6 -492.0 -492014 0.4 ZNF239 MNT ZNF211 ZBTB20 ZNF157 FOXA1 YBX1 ZBTB48 ZNF662 FOSL1 piR-59564 FOXJ3 PPIH HIVEP3 RIMKLA piR-47592-001 lnc-HIVEP3-1 ENSG00000284895
GH01J042469 Enhancer 0.2 FANTOM5 2.2 +88.5 88477 0.4 RNU6-536P ENSG00000236180 PPIH RIMKLA CCDC30 HSALNG0003002 PPCS ZMYND12 RPS3AP11
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RIMKLA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RIMKLA

Top Transcription factor binding sites by QIAGEN in the RIMKLA gene promoter:
  • AREB6
  • Brachyury
  • c-Ets-1
  • E47
  • IRF-7A
  • NRSF form 1
  • NRSF form 2
  • Sox9
  • SRY
  • XBP-1

Genomic Locations for RIMKLA Gene

Genomic Locations for RIMKLA Gene
chr1:42,380,792-42,425,813
(GRCh38/hg38)
Size:
45,022 bases
Orientation:
Plus strand
chr1:42,846,466-42,889,900
(GRCh37/hg19)
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;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH39737.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • N-acetyl-L-aspartyl-L-glutamate (NAAG) is the most abundant dipeptide present in vertebrate central nervous system (CNS).

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

ENSEMBL proteins:
REFSEQ proteins:

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

Protein Domains for RIMKLA Gene

Suggested Antigen Peptide Sequences for RIMKLA Gene

GenScript: Design optimal peptide antigens:
  • Ribosomal protein S6 modification-like protein A (RIMKA_HUMAN)

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 Function:
Catalyzes the synthesis of N-acetyl-L-aspartyl-L-glutamate (NAAG) and N-acetyl-L-aspartyl-L-glutamyl-L-glutamate.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-glutamate + N-acetyl-L-aspartate = ADP + H(+) + N-acetyl-L-aspartyl-L-glutamate + phosphate; Xref=Rhea:RHEA:40035, ChEBI:CHEBI:15378, ChEBI:CHEBI:16953, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:76931, ChEBI:CHEBI:456216; EC=6.3.2.41; Evidence={ECO:0000250|UniProtKB:Q6PFX8};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 ATP + 2 L-glutamate + N-acetyl-L-aspartate = 2 ADP + 2 H(+) + N-acetyl-L-aspartyl-L-glutamyl-L-glutamate + 2 phosphate; Xref=Rhea:RHEA:40039, ChEBI:CHEBI:15378, ChEBI:CHEBI:16953, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:76935, ChEBI:CHEBI:456216; EC=6.3.2.42; Evidence={ECO:0000250|UniProtKB:Q6PFX8};.

Enzyme Numbers (IUBMB) for RIMKLA Gene

Gene Ontology (GO) - Molecular Function for RIMKLA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005524 ATP binding IEA --
GO:0016874 ligase activity IEA --
GO:0016879 ligase activity, forming carbon-nitrogen bonds IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with RIMKLA: view
genes like me logo Genes that share phenotypes with RIMKLA: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIMKLA

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 4
nucleus 3
extracellular 1
cytoskeleton 1
mitochondrion 1

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 21873635
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 Agonist, Full agonist 304
Manganese Approved Nutra 56
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
N-Acetyl-L-aspartic acid
  • (S)-2-(acetylamino)Butanedioic acid
  • (S)-2-(acetylamino)Succinic acid
  • Acetyl-L-aspartic acid
  • Acetylaspartic acid
  • L-N-Acetylaspartic acid
997-55-7
genes like me logo Genes that share compounds with RIMKLA: view

Transcripts for RIMKLA Gene

mRNA/cDNA for RIMKLA Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RIMKLA

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

Expression for RIMKLA Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Eye (Sensory Organs)

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 and MOPED for RIMKLA Gene



Protein tissue co-expression partners for RIMKLA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RIMKLA

SOURCE GeneReport for Unigene cluster for RIMKLA Gene:

Hs.420244

Evidence on tissue expression from TISSUES for RIMKLA Gene

  • Pancreas(4)
  • Nervous system(3.8)
genes like me logo Genes that share expression patterns with RIMKLA: view

No data available for 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 30 31
  • 99.49 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia RIMKLA 30 31
  • 91.82 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia RIMKLA 30 31
  • 91.39 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia RIMKLA 31
  • 91 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Rimkla 30 17 31
  • 87.02 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia RIMKLA 31
  • 72 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii rimkla 31
  • 65 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5186 30
Species where no ortholog for RIMKLA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for RIMKLA: view image

Paralogs for RIMKLA Gene

Paralogs for RIMKLA Gene

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

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

Variants for RIMKLA Gene

Additional dbSNP identifiers (rs#s) for RIMKLA Gene

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 and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RIMKLA Gene

Disorders for RIMKLA Gene

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
  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
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  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
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for RIMKLA Gene

Sources for RIMKLA Gene