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C19orf55 Gene

protein-coding   GIFtS: 40
GCID: GC19P036249

Chromosome 19 Open Reading Frame 55

  Search for C19orf55
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
Chromosome 19 Open Reading Frame 551 2
Uncharacterized Protein C19orf552

External Ids:    HGNC: 252041   Entrez Gene: 1481372   Ensembl: ENSG000001675957   UniProtKB: Q2NL683   

Export aliases for C19orf55 gene to outside databases

Previous GC identifers: GC19P040941 GC19P040943 GC19P040945 GC19P040948 GC19P040950 GC19P040952 GC19P040954 GC19P032753


(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 C19orf55 Gene:
C19orf55 (chromosome 19 open reading frame 55) is a protein-coding gene.


(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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RefSeq DNA sequence:
NC_000019.10  NC_018930.2  NT_011109.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the C19orf55 gene promoter:
         POU2F1   HOXA3   POU2F1a   FOXO4   COMP1   ZIC2/Zic2   GCNF-2   YY1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C19orf55

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C19orf55


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

Entrez Gene cytogenetic band: 19q13.12   Ensembl cytogenetic band:  19q13.12   HGNC cytogenetic band: 19q13.12

C19orf55 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C19orf55 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P036249:  view genomic region     (about GC identifiers)

Start:
36,249,044 bp from pter      End:
36,261,930 bp from pter
Size:
12,887 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CS055_HUMAN, Q2NL68 (See protein sequence)
Recommended Name: Uncharacterized protein C19orf55  
Size: 480 amino acids; 51075 Da
Sequence caution: Sequence=AAH17947.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q8NDI3 Q8WWC8 Q96NL4
Alternative splicing: 4 isoforms:  Q2NL68-1   Q2NL68-2   Q2NL68-3   Q2NL68-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C19orf55: NX_Q2NL68

Explore proteomics data for C19orf55 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C19orf55 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001034976.2  
    ENSEMBL proteins: 
     ENSP00000394231   ENSP00000467267   ENSP00000301165   ENSP00000466822   ENSP00000468162  
     ENSP00000439886   ENSP00000469661   ENSP00000440357   ENSP00000438803   ENSP00000470309  
     ENSP00000474471   ENSP00000380116  

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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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    ProtoNet protein and cluster: Q2NL68


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C19orf55
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    hsa-mir-331-3p (MIRT043561), hsa-mir-196a-5p (MIRT048168)

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    (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

    (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 C19orf55
    Interactions:

        Search GeneGlobe Interaction Network for C19orf55

    (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 C19orf55 (CS055)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for C19orf55 gene (2 alternative transcripts): 
    NM_144692.1  NM_001039887.2  

    Unigene Cluster for C19orf55:

    Chromosome 19 open reading frame 55
    Hs.527982  [show with all ESTs]
    Unigene Representative Sequence: BC110893
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000444637 ENST00000544099 ENST00000301165 ENST00000544876 ENST00000536950(uc002obo.1 uc002obp.3)
    ENST00000535581 ENST00000537459 ENST00000421853 ENST00000600988 ENST00000545674
    ENST00000539771 ENST00000601095 ENST00000542134 ENST00000542591 ENST00000544158
    ENST00000536037 ENST00000396908(uc021usz.1)
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      QuantiTect SYBR Green Assays in human, mouse, rat C19orf55
      QuantiFast Probe-based Assays in human, mouse, rat C19orf55

    Additional mRNA sequence: 

    AL833894.1 BC017947.1 BC110893.1 

    10 DOTS entries:

    DT.91807149  DT.92415950  DT.100019651  DT.97771225  DT.91816622  DT.86845313  DT.101968576  DT.102822805 
    DT.40269665  DT.97764063 

    Selected AceView cDNA sequences (see all 45):

    AL833894 AK055219 BQ884035 AK124144 BQ642536 BU956069 BE466279 BM475132 
    BC017947 AI351753 BX112140 BQ064172 BE888516 BQ062360 BQ057349 BE890031 
    BF512237 BQ061605 AA977592 NM_144692 BQ064053 BM854588 BQ055164 BG529857 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for C19orf55 (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12
    SP1:                          -     -     -                                                                                                   
    SP2:                          -     -                                                                                                         
    SP3:                          -     -                                                                                                         
    SP4:                                                                                -                                                         
    SP5:                                                                                -                                                         


    ECgene alternative splicing isoforms for C19orf55

    (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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    C19orf55 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAGATTCT
    C19orf55 Expression
    About this image

    C19orf55 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C19orf55 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.527982
        Custom PCR Arrays for C19orf55
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    In Situ
    Assay Products:
     

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

    Orthologs for C19orf55 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia BC0537495 cDNA sequence BC053749   --   7 (18.51 cM) 30539134 
    lizard
    (Anolis carolinensis)
    Reptilia C19orf556
    chromosome 19 open reading frame 55
    31(a)
    1 ↔ 1
    GL343276.1(1438654-1444360)
    zebrafish
    (Danio rerio)
    Actinopterygii C15H19orf556
    chromosome 19 open reading frame 55
    17(a)
    1 ↔ 1
    15(36260993-36288011) ENSDARG00000097591


    ENSEMBL Gene Tree for C19orf55 (if available)
    TreeFam Gene Tree for C19orf55 (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 C19orf55 (see all 245)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1478369201,2
    --36408705(+) CGCGCA/GCCTGT 1 -- int10--------
    rs1128812381,2
    C--36408936(+) CTCCCG/CAGGGC 1 -- int11Minor allele frequency- C:0.00CSA 1
    rs1078781,2
    C,F,A,H--36408971(+) AACCCC/TACTTT 1 -- int127Minor allele frequency- T:0.21NS EA NA WA CSA EU 3399
    rs1835206921,2
    --36409025(+) TGGAGA/TTGCGC 2 D V mis10--------
    rs777977971,2
    C,F--36409223(+) CTGCCC/TTTGTC 1 -- int12Minor allele frequency- T:0.02NA 122
    rs1414303521,2
    --36409283(+) TGTTAC/TCATTA 1 -- int10--------
    rs72545811,2
    C,F,A,H--36409358(+) ACCCAT/CGAGAC 1 -- int120Minor allele frequency- C:0.17NS EA NA CSA WA 2524
    rs1453110151,2
    C--36409491(+) TTTGAG/TGAGTC 2 E D mis10--------
    rs2013160611,2
    C--36409492(+) TTGAGA/GAGTCC 2 K E mis10--------
    rs1164982181,2
    C,F--36409554(+) ATGTGG/AGCCTC 2 /* /W stg11Minor allele frequency- A:0.03WA 118

    HapMap Linkage Disequilibrium report for C19orf55 (36249044 - 36261930 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for C19orf55:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718499CNV Deletion23290073
    dgv3853n71CNV Loss21882294
    dgv3852n71CNV Loss21882294
    nsv911636CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    (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 C19orf55 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with C19orf55)
        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, 3 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (EMBO J. 2009)
    3. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    5. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (Nature 2004)
    6. 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)
    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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 148137 HGNC: 25204 AceView: LOC148137 Ensembl:ENSG00000167595 euGenes: HUgn148137
    ECgene: C19orf55 H-InvDB: C19orf55

    (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)
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    NameDescription
    PharmGKB entry for C19orf55 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 C19orf55 gene:
    Search GeneIP for patents involving C19orf55

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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