Aliases for RIMKLB Gene

Aliases for RIMKLB Gene

  • Ribosomal Modification Protein RimK Like Family Member B 2 3 5
  • Beta-Citrylglutamate Synthase B 2 3 4
  • 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
  • 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. Diseases associated with RIMKLB include Schizoid Personality Disorder. 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 citrate-L-glutamate ligase activity. An important paralog of this gene is RIMKLA.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for RIMKLB Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RIMKLB Gene

Genomics for RIMKLB Gene

GeneHancer (GH) Regulatory Elements for RIMKLB Gene

Promoters and enhancers for RIMKLB 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
GH12J008695 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 523 +18.2 18186 7.6 HNRNPK NRF1 USF1 PHF8 TEAD4 ZFX ZNF10 POLR2A ZBTB10 CLOCK RIMKLB LINC02367 ENSG00000214776 ENSG00000256673 A2M-AS1 HE855925
GH12J008659 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE 506.7 -16.6 -16626 10.1 EP300 DEK CEBPB CHD2 RCOR1 GTF2F1 MAX MAZ STAT3 TBP RIMKLB MFAP5 ENSG00000255829 lnc-MFAP5-3 LOC101060064
GH12J008679 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 538.8 -0.4 -403 4.3 CTCF MYC ZNF639 REST RAD21 EP300 TRIM22 ATF2 SMC3 ZNF316 RIMKLB ENSG00000256004 LOC101060064 lnc-RIMKLB-4
GH12J008692 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas 518.4 +11.2 11201 2.4 EP300 REST POLR2A OSR2 ZNF585B ZBTB17 ZNF263 TCF12 PBX2 ZNF189 RIMKLB HE855925
GH12J008675 Enhancer 0.8 Ensembl ENCODE 35.4 -5.3 -5300 3.4 ZNF384 SPI1 SMARCA5 ELF1 FOS NR2F1 TBX21 ATF7 EP300 ZNF687 RIMKLB LOC101060064 ENSG00000255829
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RIMKLB on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the RIMKLB gene promoter:
  • AML1a
  • GCNF
  • GCNF-1
  • GCNF-2
  • HFH-1
  • HSF2
  • MIF-1
  • Nkx2-5
  • RFX1

Genomic Locations for RIMKLB Gene

Genomic Locations for RIMKLB Gene
chr12:8,681,600-8,783,098
(GRCh38/hg38)
Size:
101,499 bases
Orientation:
Plus strand
chr12:8,834,196-8,935,691
(GRCh37/hg19)
Size:
101,496 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.
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    SequenceCaution:
    • Sequence=BAA86552.1; Type=Erroneous initiation; Note=Extended N-terminus.; 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

Gene Families for RIMKLB Gene

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

Protein Domains for RIMKLB Gene

Suggested Antigen Peptide Sequences for RIMKLB Gene

GenScript: Design optimal peptide antigens:
  • Ribosomal protein S6 modification-like protein B (RIMKB_HUMAN)

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

Function for RIMKLB Gene

Molecular function for RIMKLB Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + citrate + L-glutamate = ADP + beta-citrylglutamate + H(+) + phosphate; Xref=Rhea:RHEA:40043, ChEBI:CHEBI:15378, ChEBI:CHEBI:16947, ChEBI:CHEBI:29985, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:76942, ChEBI:CHEBI:456216; EC=6.3.1.17; Evidence=. ;.
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=. ;.

Enzyme Numbers (IUBMB) for RIMKLB Gene

Phenotypes From GWAS Catalog for RIMKLB Gene

Gene Ontology (GO) - Molecular Function for RIMKLB Gene

GO ID Qualified GO term Evidence PubMed IDs
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 ISS,IBA --
GO:0072591 citrate-L-glutamate ligase activity ISS --
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:
  • Rimklb Rimklb<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Clone 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
cytosol 4
cytoskeleton 2
nucleus 2
extracellular 1
mitochondrion 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (2)
  • Nucleoplasm (2)
See all subcellular structures

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

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 25)
STRING Interaction Network
Selected Interacting proteins: ENSP00000350136 Q9ULI2-RIMKB_HUMAN for RIMKLB Gene via STRING IID

;

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
Citric acid Approved, Vet_approved Nutra Agonist, Activator 1480
Glutamic acid Approved Nutra Full agonist, Agonist 289
Manganese Approved Nutra 51
ATP Investigational Nutra Agonist, Activator, Full agonist, Antagonist, Pore Blocker, Potentiation 0

(2) Additional Compounds for RIMKLB 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
Full agonist, Agonist, Partial agonist, Antagonist, Gating inhibitor 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 RIMKLB: view

Transcripts for RIMKLB Gene

mRNA/cDNA for RIMKLB Gene

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

CRISPR Products

Clone 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

Expression for RIMKLB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for RIMKLB Gene



Protein tissue co-expression partners for RIMKLB Gene

- Elite partner

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

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 31 30
  • 99.48 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RIMKLB 31 30
  • 94.47 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RIMKLB 31
  • 94 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RIMKLB 31 30
  • 93.87 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Rimklb 17 31 30
  • 90.41 (n)
rat
(Rattus norvegicus)
Mammalia Rimklb 30
  • 89.9 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RIMKLB 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves RIMKLB 31 30
  • 83.42 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RIMKLB 31
  • 96 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rimklb 30
  • 75.22 (n)
zebrafish
(Danio rerio)
Actinopterygii rimkla 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for RIMKLB: view image

Paralogs for RIMKLB Gene

Paralogs for RIMKLB Gene

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

  • RIMKB_HUMAN
  • F5GZH5_HUMAN
  • F5H3V4_HUMAN
  • F5H552_HUMAN
  • L8EB22_HUMAN

Pseudogenes.org Pseudogenes for RIMKLB Gene

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

Variants for RIMKLB Gene

Additional dbSNP identifiers (rs#s) for RIMKLB Gene

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)

Additional Variant Information for RIMKLB Gene

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

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 RIMKLB Gene

Disorders for RIMKLB Gene

MalaCards: The human disease database

(1) MalaCards diseases for RIMKLB Gene - From: DISEASES

Disorder Aliases PubMed IDs
schizoid personality disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for RIMKLB

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

No data available for 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 research : an international journal for rapid publication of reports on genes and genomes 1999) 2 3 4 54
  2. Molecular characterization of N-acetylaspartylglutamate synthetase. (PMID: 20643647) Becker I … Eckhardt M (The Journal of biological chemistry 2010) 2 3 54
  3. 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 54
  4. TNIP2 is a Hub Protein in the NF-κB Network with Both Protein and RNA Mediated Interactions. (PMID: 27609421) Banks CA … Washburn MP (Molecular & cellular proteomics : MCP 2016) 3 54
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) Kırlı K … Görlich D (eLife 2015) 3 54

Products for RIMKLB Gene

Sources for RIMKLB Gene