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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RIMKLA Gene

protein-coding   GIFtS: 45
GCID: GC01P042846

ribosomal modification protein rimK-like family member A

(Previous names: family with sequence similarity 80, member A )
(Previous symbol: FAM80A)
  Search for RIMKLA
in our new
 Human Malady Compendium 
Biological research products
for RIMKLA
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ribosomal Modification Protein RimK-Like Family Member A1 2     NAAG Synthetase A2 3
FAM80A1 2 3     MGC478161
NAAGS-II1 2     RP11-157D18.11
Family With Sequence Similarity 80, Member A1 2     N-Acetylaspartyl-Glutamate Synthetase A2
Ribosomal Protein S6 Modification-Like Protein A2 3     N-Acetylaspartylglutamate Synthetase II2
NAAGS2 3     EC 6.3.2.N61

External Ids:    HGNC: 287251   Entrez Gene: 2847162   Ensembl: ENSG000001771817   UniProtKB: Q8IXN73   

Export aliases for RIMKLA gene to outside databases

Previous GC identifers: GC01P042620 GC01P040966


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: RIMKA_HUMAN, Q8IXN7
Function: Catalyzes the synthesis of N-acetylaspartyl-glutamate (NAAG)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RIMKLA gene promoter:
         Brachyury   NRSF form 1   XBP-1   NRSF form 2   c-Ets-1   E47   AREB6   SRY   Sox9   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRIMKLA promoter sequence
   Search SABiosciences Chromatin IP Primers for RIMKLA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RIMKLA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34.2   Ensembl cytogenetic band:  1p34.2   HGNC cytogenetic band: 1p34.2

RIMKLA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RIMKLA gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P042846:  view genomic region     (about GC identifiers)

Start:
42,846,466 bp from pter      End:
42,889,900 bp from pter
Size:
43,435 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: RIMKA_HUMAN, Q8IXN7 (See protein sequence)
Recommended Name: N-acetylaspartyl-glutamate synthetase A  
Size: 391 amino acids; 42864 Da
Cofactor: Binds 2 manganese ions per subunit (By similarity)
Subcellular location: Cytoplasm (Probable)
Miscellaneous: N-acetylaspartyl-glutamate (NAAG) is the most abundant dipeptide present in vertebrate central nervous
system (CNS) (By similarity)
Sequence caution: Sequence=AAH39737.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=CAH70661.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5VUS5

Explore the universe of human proteins at neXtProt for RIMKLA: NX_Q8IXN7

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8IXN7

  • RIMKLA Protein expression data from MOPED and PaxDb:    About this image 
    RIMKLA Protein Expression
    REFSEQ proteins: NP_775913.2  
    ENSEMBL proteins: 
     ENSP00000387064   ENSP00000414330  

    Human Recombinant Protein Products for RIMKLA: 
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    Uscn Proteins for RIMKLA

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    RIMKLA for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    RIMKLA for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR013651 ATP-grasp_RimK-type
     IPR016185 PreATP-grasp_dom
     IPR004666 RpS6_RimK/Lys_biosynth_LsyX
     IPR011761 ATP-grasp
     IPR013816 ATP_grasp_subdomain_2

    Graphical View of Domain Structure for InterPro Entry Q8IXN7

    ProtoNet protein and cluster: Q8IXN7

    UniProtKB/Swiss-Prot: RIMKA_HUMAN, Q8IXN7
    Similarity: Belongs to the RimK family
    Similarity: Contains 1 ATP-grasp domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RIMKA_HUMAN, Q8IXN7
    Function: Catalyzes the synthesis of N-acetylaspartyl-glutamate (NAAG)
    Catalytic activity: ATP + N-acetyl-L-aspartate + L-glutamate = ADP + phosphate + N-acetylaspartyl-glutamate

         Enzyme Number (IUBMB): EC 6.3.2.n61

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005524ATP binding IEA--
    GO:0016879ligase activity, forming carbon-nitrogen bonds ----
    GO:0016881acid-amino acid ligase activity IEA--
    GO:0046872metal ion binding IEA--
    GO:0072590N-acetyl-L-aspartate-L-glutamate ligase activity ISS--
         
    RIMKLA for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RIMKLA:
     Increased cell number in G2M,  

    Animal Models:
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RIMKLA 

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    hsa-miR-520f hsa-miR-106a hsa-miR-134 hsa-miR-519a hsa-miR-3921 hsa-miR-502-3p hsa-miR-298 hsa-miR-3649
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    In Situ Assay
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RIMKLA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for RIMKLA (ENSP000004143304) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARTNENSP000003919984STRING: ENSP00000391998
    IPO13ENSP000003614184STRING: ENSP00000361418
    LRRC7ENSP000000353834STRING: ENSP00000035383
    PRPF38BENSP000003590424STRING: ENSP00000359042
    TMEM53ENSP000003613114STRING: ENSP00000361311
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process IEA--

    RIMKLA for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RIMKLA

    1 HMDB Compound for RIMKLA    About this table
    CompoundSynonyms CAS #PubMed Ids
    Manganesemanganese 7439-96-5--
    Search CenterWatch for drugs/clinical trials and news about RIMKLA / RIMKA 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RIMKLA gene: 
    NM_173642.3  

    Unigene Cluster for RIMKLA:

    Ribosomal modification protein rimK-like family member A
    Hs.420244  [show with all ESTs]
    Unigene Representative Sequence: NM_173642
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000410070 ENST00000431473(uc001chi.2)

    miRNA
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    8/189 QIAGEN miScript miRNA Assays for microRNAs that regulate RIMKLA (see all 189):
    hsa-miR-520f hsa-miR-106a hsa-miR-134 hsa-miR-519a hsa-miR-3921 hsa-miR-502-3p hsa-miR-298 hsa-miR-3649
    SwitchGear 3'UTR luciferase reporter plasmidRIMKLA 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RIMKLA
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    Additional cDNA sequence: BC039737.1 

    9 DOTS entries:

    DT.410720  DT.97837726  DT.310105  DT.99982330  DT.404882  DT.108385  DT.92065637  DT.121458333 
    DT.91927766 

    24/47 AceView cDNA sequences (see all 47):

    CB154467 BQ220020 AI681638 BE220489 AA932847 AA176636 BQ638856 BE669885 
    AI796946 AA595285 AA179690 BM796010 BE348543 CB146074 BE669736 BX108269 
    AA917494 BC039737 BM713339 AV724080 BU178521 AI279434 AW001564 BF971367 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for RIMKLA    About this scheme

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


    ECgene alternative splicing isoforms for RIMKLA

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RIMKLA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTGCCCGAAC
    RIMKLA Expression
    About this image

    RIMKLA expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Posterior foregut-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RIMKLA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RIMKLA

    SOURCE GeneReport for Unigene cluster: Hs.420244
        SABiosciences Custom PCR Arrays for RIMKLA
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for RIMKLA gene from 2/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    zebrafish
    (Danio rerio)
    Actinopterygii rimkla6
    ribosomal modification protein rimK-like family me...
    64(a)
    1 ↔ 1
    8(27721048-27740251)
    E. coli
    (Escherichia coli)
    Gamma proteobacteria rimK6
    ribosomal protein S6 modification protein
    24(a)
    1 → many
    Chromosome(891190-892092)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RIMKLA gene
    RIMKLB2  
    1 SIMAP similar gene for RIMKLA using alignment to 1 protein entry:     RIMKA_HUMAN:
    RIMKLB

    RIMKLA for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/861 NCBI SNPs in RIMKLA are shown (see all 861    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1854226021,2
    --42844549(+) AATCAA/GACTTG 1 -- us2k10--------
    rs762698921,2
    F--42844896(+) GGGCAC/TTATTG 1 -- us2k11Minor allele frequency- T:0.07WA 118
    rs1505450521,2
    --42844930(+) AGAACA/GGGGGA 1 -- us2k10--------
    rs1909095201,2
    --42845158(+) TACTCC/TGGAGG 1 -- us2k10--------
    rs1395036161,2
    --42845190(+) AACCCA/GGCAGG 1 -- us2k10--------
    rs127441531,2
    C,F--42845237(+) TCCAGC/TCTGGG 1 -- us2k14Minor allele frequency- T:0.50NA 8
    rs1473435941,2
    --42845300(+) CATTGC/TTTGAA 1 -- us2k10--------
    rs1148921361,2
    --42845424(+) TTACCC/TCATTT 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs1402021351,2
    --42845466(+) CTACTC/GTTGCT 1 -- us2k10--------
    rs1416241271,2
    C--42845491(+) AGAAA-/TTTAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for RIMKLA (42846466 - 42889900 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for RIMKLA
         1 CNV: 63618

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RIMKLA gene integrated from 9 sources:
    (articles sorted by number of sources associating them with RIMKLA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. N-acetylaspartylglutamate synthetase II synthesizes N -acetylaspartylglutamylglutamate. (PubMed id 21454531)1, 3 Lodder-Gadaczek J....Eckhardt M. (2011)
    2. Molecular identification of N-acetylaspartylglutamate synthase and beta-citrylglutamate synthase. (PubMed id 20657015)1, 3 Collard F....Van Schaftingen E. (2010)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 284716 HGNC: 28725 AceView: MGC47816 Ensembl:ENSG00000177181 euGenes: HUgn284716
    ECgene: RIMKLA H-InvDB: RIMKLA

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RIMKLA Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for RIMKLA gene:
    Search GeneIP for patents involving RIMKLA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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    von Willebrand factor
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