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Aliases for RIMKLB Gene

Aliases for RIMKLB Gene

  • Ribosomal Modification Protein RimK Like Family Member B 2 3 5
  • Ribosomal Protein S6 Modification-Like Protein B 3 4
  • Family With Sequence Similarity 80, Member B 2 3
  • N-Acetyl-Aspartylglutamate Synthetase B 3 4
  • Beta-Citrylglutamate Synthase B 2 3
  • NAAG Synthetase B 3 4
  • FAM80B 3 4
  • NAAGS 3 4
  • N-Acetyl-Aspartyl-Glutamate Synthetase B 3
  • N-Acetylaspartyl-Glutamate Synthetase B 3
  • N-Acetylaspartyl-Glutamate Synthetase 2
  • Beta-Citryl-Glutamate Synthase B 3
  • EC 6.3.1.17 4
  • EC 6.3.2.41 4
  • KIAA1238 4
  • NAAGS-I 3

External Ids for RIMKLB Gene

Previous HGNC Symbols for RIMKLB Gene

  • FAM80B

Previous GeneCards Identifiers for RIMKLB Gene

  • GC12P008743
  • GC12P008851
  • GC12P008632

Summaries for RIMKLB Gene

GeneCards Summary for RIMKLB Gene

RIMKLB (Ribosomal Modification Protein RimK Like Family Member B) 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 citrate-L-glutamate ligase activity. An important paralog of this gene is RIMKLA.

UniProtKB/Swiss-Prot for RIMKLB Gene

  • Catalyzes the synthesis of beta-citryl-L-glutamate and N-acetyl-L-aspartyl-L-glutamate. Beta-citryl-L-glutamate is synthesized more efficiently than N-acetyl-L-aspartyl-L-glutamate.

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

Genomics for RIMKLB Gene

Regulatory Elements for RIMKLB Gene

Enhancers for RIMKLB 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
GH12G008679 1.1 Ensembl ENCODE 38.9 -0.4 -403 4.3 TBP KLF17 BRCA1 RAD21 RFX5 GATA2 ZNF366 ZNF654 SP3 ZNF362 RIMKLB LOC101060064
GH12G008675 1 Ensembl ENCODE 35.3 -5.8 -5800 1.2 RELA GATA3 ZNF316 EGR1 NFE2 MTA2 NR2F1 E2F5 MAFG DPF2 RIMKLB LOC101060064 ENSG00000255829
GH12G008687 1.5 FANTOM5 Ensembl ENCODE 18.4 +6.4 6365 1.3 HDAC1 TBP PKNOX1 NFIB SIN3A KLF17 ZNF2 ZNF366 SCRT2 ETV6 RIMKLB RPSAP51
GH12G008695 1 ENCODE 23 +16.7 16682 4.6 PKNOX1 ATF1 ARNT SIN3A GLI4 BRCA1 ZNF2 GLIS2 KLF7 SP3 RIMKLB A2M-AS1 RPSAP51
GH12G008692 1.1 Ensembl ENCODE 18.4 +11.3 11285 1.7 PKNOX1 MAX CHD7 GATA3 ZFHX2 ZNF366 POLR2A ZBTB20 GATAD2A ZNF263 RIMKLB RPSAP51
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around RIMKLB on UCSC Golden Path with GeneCards custom track

Genomic Location for RIMKLB Gene

Chromosome:
12
Start:
8,681,600 bp from pter
End:
8,783,098 bp from pter
Size:
101,499 bases
Orientation:
Plus strand

Genomic View for RIMKLB Gene

Genes around RIMKLB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for RIMKLB Gene

Proteins for RIMKLB Gene

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

    Protein Symbol:
    Q9ULI2-RIMKB_HUMAN
    Recommended name:
    Beta-citrylglutamate synthase B
    Protein Accession:
    Q9ULI2
    Secondary Accessions:
    • B7Z834
    • D3DUV2
    • Q8N4P4
    • Q8WTW6

    Protein attributes for RIMKLB Gene

    Size:
    386 amino acids
    Molecular mass:
    42464 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). Beta-citryl-L-glutamate, a structural analog of NAAG, is present in testis and immature brain.
    SequenceCaution:
    • Sequence=BAA86552.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for RIMKLB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIMKLB Gene

Post-translational modifications for RIMKLB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for RIMKLB Gene

Domains & Families for RIMKLB Gene

Suggested Antigen Peptide Sequences for RIMKLB Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9ULI2

UniProtKB/Swiss-Prot:

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

No data available for Gene Families for RIMKLB Gene

Function for RIMKLB Gene

Molecular function for RIMKLB Gene

UniProtKB/Swiss-Prot CatalyticActivity:
ATP + citrate + L-glutamate = ADP + phosphate + beta-citryl-L-glutamate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + N-acetyl-L-aspartate + L-glutamate = ADP + phosphate + N-acetyl-L-aspartyl-L-glutamate.
UniProtKB/Swiss-Prot Function:
Catalyzes the synthesis of beta-citryl-L-glutamate and N-acetyl-L-aspartyl-L-glutamate. Beta-citryl-L-glutamate is synthesized more efficiently than N-acetyl-L-aspartyl-L-glutamate.

Enzyme Numbers (IUBMB) for RIMKLB Gene

Gene Ontology (GO) - Molecular Function for RIMKLB 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 IBA,TAS --
genes like me logo Genes that share ontologies with RIMKLB: view
genes like me logo Genes that share phenotypes with RIMKLB: view

Animal Models for RIMKLB Gene

MGI Knock Outs for RIMKLB:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RIMKLB Gene

Localization for RIMKLB Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIMKLB 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 RIMKLB gene
Compartment Confidence
cytoskeleton 2
nucleus 2
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for RIMKLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS,IBA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with RIMKLB: view

Pathways & Interactions for RIMKLB Gene

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

Pathways by source for RIMKLB Gene

Interacting Proteins for RIMKLB Gene

Gene Ontology (GO) - Biological Process for RIMKLB 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 RIMKLB: view

No data available for SIGNOR curated interactions for RIMKLB Gene

Drugs & Compounds for RIMKLB Gene

(5) Drugs for RIMKLB 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
Citric Acid Vet_approved Nutra Agonist, Activator 1160
L-Glutamic Acid Nutra Full agonist, Agonist 0

(2) Additional Compounds for RIMKLB 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 RIMKLB: view

Transcripts for RIMKLB Gene

Unigene Clusters for RIMKLB Gene

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

CRISPR Products

Inhibitory RNA Products

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

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c
SP1:
SP2:
SP3: -
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for RIMKLB Gene

GeneLoc Exon Structure for
RIMKLB
ECgene alternative splicing isoforms for
RIMKLB

Expression for RIMKLB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for RIMKLB Gene

This gene is overexpressed in Testis (55.7) and Placenta (13.3).

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



Protein tissue co-expression partners for RIMKLB Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of RIMKLB Gene:

RIMKLB

SOURCE GeneReport for Unigene cluster for RIMKLB Gene:

Hs.504670

Evidence on tissue expression from TISSUES for RIMKLB Gene

  • Nervous system(4.7)
genes like me logo Genes that share expression patterns with RIMKLB: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for RIMKLB Gene

Orthologs for RIMKLB Gene

This gene was present in the common ancestor of chordates.

Orthologs for RIMKLB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RIMKLB 34 35
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia RIMKLB 34 35
  • 94.47 (n)
oppossum
(Monodelphis domestica)
Mammalia RIMKLB 35
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RIMKLB 34 35
  • 93.87 (n)
mouse
(Mus musculus)
Mammalia Rimklb 34 16 35
  • 90.41 (n)
rat
(Rattus norvegicus)
Mammalia Rimklb 34
  • 89.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RIMKLB 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RIMKLB 34 35
  • 83.42 (n)
lizard
(Anolis carolinensis)
Reptilia RIMKLB 35
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rimklb 34
  • 75.22 (n)
zebrafish
(Danio rerio)
Actinopterygii rimkla 34
  • 66.05 (n)
Species where no ortholog for RIMKLB 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)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RIMKLB Gene

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

Paralogs for RIMKLB Gene

Paralogs for RIMKLB Gene

(1) SIMAP similar genes for RIMKLB Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for RIMKLB Gene

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

Variants for RIMKLB Gene

Sequence variations from dbSNP and Humsavar for RIMKLB Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs1000006522 -- 8,746,086(+) TCAAG(C/T)ACAGT intron-variant
rs1000029722 -- 8,697,598(+) CCCCA(-/C)CCCCC intron-variant, upstream-variant-2KB
rs1000040783 -- 8,682,229(+) AATCG(C/G)GACAC intron-variant
rs1000044081 -- 8,759,351(+) GGTCG(G/T)GTCAC intron-variant
rs1000044568 -- 8,691,533(+) TGAAC(C/G)CAGGA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv2341n54 CNV loss 21841781
dgv2342n54 CNV gain 21841781
dgv2343n54 CNV loss 21841781
dgv261e199 CNV deletion 23128226
esv22028 CNV loss 19812545
esv26413 CNV loss 19812545
esv34096 CNV loss 18971310
esv3628478 CNV loss 21293372
nsv1051530 CNV gain 25217958
nsv1113458 CNV deletion 24896259
nsv1126146 CNV deletion 24896259
nsv436155 CNV deletion 17901297
nsv477782 CNV novel sequence insertion 20440878
nsv557348 CNV gain+loss 21841781
nsv557353 CNV loss 21841781
nsv973018 CNV duplication 23825009

Variation tolerance for RIMKLB Gene

Residual Variation Intolerance Score: 36.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.72; 46.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RIMKLB Gene

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

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

Disorders for RIMKLB Gene

Relevant External Links for RIMKLB

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RIMKLB

No disorders were found for RIMKLB Gene.

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

Publications for RIMKLB Gene

  1. Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10574462) Nagase T. … Ohara O. (DNA Res. 1999) 2 3 4 64
  2. Molecular characterization of N-acetylaspartylglutamate synthetase. (PMID: 20643647) Becker I. … Eckhardt M. (J. Biol. Chem. 2010) 2 3 64
  3. 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
  4. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3 64
  5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PMID: 21139048) Danielsen J.M. … Nielsen M.L. (Mol. Cell Proteomics 2011) 3 64

Products for RIMKLB Gene

Sources for RIMKLB Gene

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