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ARMC5 Gene

protein-coding   GIFtS: 42
GCID: GC16P031473

Armadillo Repeat Containing 5

  See ARMC5-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Armadillo Repeat Containing 51 2
Armadillo Repeat-Containing Protein 52

External Ids:    HGNC: 257811   Entrez Gene: 797982   Ensembl: ENSG000001406917   OMIM: 6155495   UniProtKB: Q96C123   

Export aliases for ARMC5 gene to outside databases

Previous GC identifers: GC16P031507 GC16P031377 GC16P029030


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ARMC5 Gene:
ARMC5 (armadillo repeat containing 5) is a protein-coding gene. Diseases associated with ARMC5 include acth-independent macronodular adrenal hyperplasia.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the ARMC5 gene promoter:
         COUP-TF1   COUP-TF   COUP   HNF-4alpha2   HNF-4alpha1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ARMC5 promoter sequence
   Search Chromatin IP Primers for ARMC5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARMC5


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11

ARMC5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARMC5 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P031473:  view genomic region     (about GC identifiers)

Start:
31,469,401 bp from pter      End:
31,478,488 bp from pter
Size:
9,088 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ARMC5_HUMAN, Q96C12 (See protein sequence)
Recommended Name: Armadillo repeat-containing protein 5  
Size: 935 amino acids; 97682 Da
Sequence caution: Sequence=BAB15720.1; Type=Erroneous initiation;
Secondary accessions: Q86WM9 Q9H7P8 Q9H925
Alternative splicing: 4 isoforms:  Q96C12-1   Q96C12-2   Q96C12-3   Q96C12-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ARMC5: NX_Q96C12

Explore proteomics data for ARMC5 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys166, Lys294
  • Modification sites at PhosphoSitePlus

  • See ARMC5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001098717.1  NP_001275696.1  NP_079018.1  

    ENSEMBL proteins: 
     ENSP00000386125   ENSP00000399561   ENSP00000456877   ENSP00000456571   ENSP00000454430  
     ENSP00000443995   ENSP00000268314   ENSP00000400183  

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    antibodies-online antibodies for ARMC5 (11 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARMC: Armadillo repeat containing

    5 InterPro protein domains:
     IPR011989 ARM-like
     IPR000225 Armadillo
     IPR000210 BTB/POZ-like
     IPR011333 BTB/POZ_fold
     IPR016024 ARM-type_fold

    Graphical View of Domain Structure for InterPro Entry Q96C12

    ProtoNet protein and cluster: Q96C12

    1 Blocks protein domain: IPB000210 BTB/POZ domain

    UniProtKB/Swiss-Prot: ARMC5_HUMAN, Q96C12
    Similarity: Contains 7 ARM repeats
    Similarity: Contains 1 BTB (POZ) domain


    Find genes that share domains with ARMC5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding ----
         
    Find genes that share ontologies with ARMC5           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARMC5
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    hsa-miR-1237 hsa-miR-767-3p hsa-miR-216a
    SwitchGear 3'UTR luciferase reporter plasmidARMC5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ARMC5

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARMC5

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARMC5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    extracellular1
    lysosome1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ARMC5
    Interactions:

        Search GeneGlobe Interaction Network for ARMC5

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ARMC5 (ENSP000002683144) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ARMC5



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ARMC5 gene (3 alternative transcripts): 
    NM_001105247.1  NM_001288767.1  NM_024742.2  

    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000408912(uc010vfn.2) ENST00000457010(uc002ecb.2 uc010vfo.2 uc002ecc.3 uc002eca.4 uc010vfp.2)
    ENST00000563544 ENST00000564900 ENST00000564514 ENST00000570119 ENST00000538189
    ENST00000268314 ENST00000412665
    miRNA
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    3 qRT-PCR Assays for microRNAs that regulate ARMC5:
    hsa-miR-1237 hsa-miR-767-3p hsa-miR-216a
    SwitchGear 3'UTR luciferase reporter plasmidARMC5 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ARMC5
    Predesigned siRNA for gene silencing in human, mouse, rat ARMC5
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ARMC5 (NM_024742)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARMC5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ARMC5
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ARMC5
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARMC5
      QuantiTect SYBR Green Assays in human, mouse, rat ARMC5
      QuantiFast Probe-based Assays in human, mouse, rat ARMC5

    Selected AceView cDNA sequences (see all 63):

    BQ052601 CK823492 BE794733 BC014945 AK024430 AI400328 AA777368 BF476125 
    BQ054371 BM967236 BQ006285 AK023125 AI268225 CB155857 NM_024742 AY217348 
    BI818982 BG151528 BG281422 BM893922 BI522787 AW007764 BQ332313 CF125621 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ARMC5    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
    SP1:                    -                                               -               
    SP2:                    -                                                               
    SP3:                                            -     -                                 
    SP4:                                                                                    
    SP5:                                                                                    


    ECgene alternative splicing isoforms for ARMC5

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ARMC5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAACCGGACT
    ARMC5 Expression
    About this image

    ARMC5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARMC5 Protein Expression
        Custom PCR Arrays for ARMC5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARMC5

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ARMC5 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Armc51 , 5 armadillo repeat containing 51, 5 83.12(n)1
    86.8(a)1
      7 (70.06 cM)5
    2339121  NM_146205.21  NP_666317.21 
     1282373575 
    lizard
    (Anolis carolinensis)
    Reptilia ARMC56
    armadillo repeat containing 5
    53(a)
    1 ↔ 1
    GL343220.1(2513462-2522948)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia armc51 armadillo repeat containing 5 52.93(n)
    46.77(a)
      100496435  XM_002940597.2  XP_002940643.2 
    zebrafish
    (Danio rerio)
    Actinopterygii armc51 armadillo repeat containing 5 49.75(n)
    44.15(a)
      569910  XM_693324.5  XP_698416.3 


    ENSEMBL Gene Tree for ARMC5 (if available)
    TreeFam Gene Tree for ARMC5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ARMC5 (see all 333)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1385522521,2
    --29028550(+) AAGGCA/CGGGGA 2 -- us2k10--------
    rs285330311,2
    C,F,H--31468438(+) AGGTTA/CGGAAT 2 -- us2k17Minor allele frequency- C:0.12NS NA CSA WA 910
    rs1825377791,2
    --31468439(+) GGTTAA/GGAATG 2 -- us2k10--------
    rs1873043711,2
    --31468603(+) AGGCAA/GCTGGG 2 -- us2k10--------
    rs1167306081,2
    C--31468691(+) CAAACC/GTAAGC 2 -- us2k10--------
    rs1917014531,2
    --31468767(+) TGGGGC/TTCCTT 2 -- us2k10--------
    rs1489104721,2
    --31468793(+) TTAAA-/TTTGTTA 2 -- us2k10--------
    rs1831090371,2
    --31468945(+) CGCCTA/GGCATT 2 -- us2k10--------
    rs1873986561,2
    --31468958(+) TTTTTA/TAGTAG 2 -- us2k10--------
    rs1925461151,2
    --31469022(+) GATCCA/GCTAAC 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ARMC5 (31469401 - 31478488 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ARMC5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv833194CNV Loss17160897
    dgv2673n71CNV Loss21882294
    nsv905751CNV Loss21882294
    nsv905747CNV Gain21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ARMC5
    DNA2.0 Custom Variant and Variant Library Synthesis for ARMC5

    (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.)
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    OMIM gene information: 615549    OMIM disorders: --

    1 disease for ARMC5:    
    About MalaCards
    acth-independent macronodular adrenal hyperplasia


    Find genes that share disorders with ARMC5           About GenesLikeMe


    Export disorders for ARMC5 gene to outside databases

    (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)
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    PubMed articles for ARMC5 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with ARMC5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. ARMC5 mutations in macronodular adrenal hyperplasia with Cushing's syndrome. (PubMed id 24283224)1 AssiAc G....Bertherat J. (N. Engl. J. Med. 2013)
    3. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (Cell 2012)
    4. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    5. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)2 Olsen J.V....Mann M. (Sci. Signal. 2010)
    6. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)
    7. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. Characterization of long cDNA clones from human adult spleen. (PubMed id 11214971)1 Hattori A.... Ohara O. (DNA Res. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 79798 HGNC: 25781 AceView: ARMC5 Ensembl:ENSG00000140691 euGenes: HUgn79798
    ECgene: ARMC5 H-InvDB: ARMC5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ARMC5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ARMC5 gene:
    Search GeneIP for patents involving ARMC5

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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