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C5orf45 Gene

protein-coding   GIFtS: 36
GCID: GC05M179261

Chromosome 5 Open Reading Frame 45

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(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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This gene clusters with an RNA gene
Subcategory (RNA class): antisense

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 5 Open Reading Frame 451 2
Truncated Calcium Binding Protein1
UPF0544 Protein C5orf452

External Ids:    HGNC: 308171   Entrez Gene: 511492   Ensembl: ENSG000001610107   UniProtKB: Q6NTE83   
ORGUL members:         

Export aliases for C5orf45 gene to outside databases

Previous GC identifers: GC05M179197 GC05M179198 GC05M173989


(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 C5orf45 Gene:
C5orf45 (chromosome 5 open reading frame 45) 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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Regulatory elements:
   Regulatory transcription factor binding sites in the C5orf45 gene promoter:
         Sp1   Pax-5   AML1a   Pax-2   Lmo2   Pax-2a   LUN-1   GATA-1   HOXA5   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for C5orf45

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C5orf45


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

Entrez Gene cytogenetic band: 5q35.3   Ensembl cytogenetic band:  5q35.3   HGNC cytogenetic band: 5q35.3

C5orf45 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C5orf45 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M179261:  view genomic region     (about GC identifiers)

Start:
179,261,436 bp from pter      End:
179,289,173 bp from pter
Size:
27,738 bases      Orientation:
minus 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, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CE045_HUMAN, Q6NTE8 (See protein sequence)
Recommended Name: UPF0544 protein C5orf45  
Size: 343 amino acids; 37743 Da
Sequence caution: Sequence=AAD51611.1; Type=Frameshift; Positions=191; Sequence=CAD97932.1; Type=Erroneous
initiation; Note=Translation N-terminally shortened;
Secondary accessions: B5MD09 E9PAK6 Q7Z3D8 Q9BUC1 Q9UN54
Alternative splicing: 3 isoforms:  Q6NTE8-1   Q6NTE8-2   Q6NTE8-3   (No experimental confirmation available. Ref.3 (BC050714) sequence is in conflict in position: 42:Q->R)

Explore the universe of human proteins at neXtProt for C5orf45: NX_Q6NTE8

Explore proteomics data for C5orf45 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See C5orf45 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001017987.1  NP_057259.2  

    ENSEMBL proteins: 
     ENSP00000429835   ENSP00000430298   ENSP00000427849   ENSP00000366130   ENSP00000428460  
     ENSP00000429107   ENSP00000292586   ENSP00000429563   ENSP00000429651   ENSP00000430814  
     ENSP00000431019   ENSP00000429047   ENSP00000430766   ENSP00000428081   ENSP00000429427  
     ENSP00000430187   ENSP00000384599  

    C5orf45 Human Recombinant Protein Products:

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    Novus Biologicals C5orf45 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for C5orf45 

     
    Search antibodies-online for proteins for C5orf45 

     
    antibodies-online peptides for C5orf45

    C5orf45 Antibody Products:

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    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for C5orf45
    antibodies-online antibodies for C5orf45 (20 products) 

    C5orf45 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for C5orf45
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for C5orf45 
    antibodies-online kits for C5orf45 (2 products) 


    (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: Q6NTE8

    UniProtKB/Swiss-Prot: CE045_HUMAN, Q6NTE8
    Similarity: Belongs to the UPF0544 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
         
    Find genes that share ontologies with C5orf45           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for C5orf45:
     Decreased influenza A virus in  Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for 3010026O09Rik):
     reproductive system 

    Find genes that share phenotypes with C5orf45           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for C5orf45

    miRNA
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    Block miRNA regulation of human, mouse, rat C5orf45 using miScript Target Protectors
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    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat C5orf45

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): C5orf45 (NM_016175)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C5orf45
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C5orf45

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5orf45


    (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
    mitochondrion2
    nucleus2
    cytosol1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    Find genes that share ontologies with C5orf45           About GenesLikeMe


    (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 C5orf45
    Interactions:

        Search GeneGlobe Interaction Network for C5orf45

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    Find genes that share ontologies with C5orf45           About GenesLikeMe



    (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 C5orf45 (CE045)



    (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 C5orf45 gene (4 alternative transcripts): 
    NM_001018061.1  NM_001018062.1  NM_001017987.2  NM_016175.3  

    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):
    ENST00000522663(uc003mky.2 uc011dgt.1 uc011dgu.1) ENST00000518235
    ENST00000520698 ENST00000518950 ENST00000376931 ENST00000523267 ENST00000518219
    ENST00000523084 ENST00000292586(uc003mla.3 uc003mlc.3 uc003mlb.3)
    ENST00000521299 ENST00000521333 ENST00000520150 ENST00000520900 ENST00000519208
    ENST00000523737 ENST00000520995 ENST00000521675 ENST00000524068
    miRNA
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    Search for qRT-PCR Assays for microRNAs that regulate C5orf45
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat C5orf45
    Clone
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    OriGene ORF clones in mouse, rat for C5orf45
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): C5orf45 (NM_016175)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C5orf45
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C5orf45
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat C5orf45
      QuantiTect SYBR Green Assays in human, mouse, rat C5orf45
      QuantiFast Probe-based Assays in human, mouse, rat C5orf45

    Selected AceView cDNA sequences (see all 101):

    CD251584 BC069051 AI569230 AW613959 AA350091 AI632394 CA394510 AW054784 
    BQ478113 AI686025 AL043745 BQ478342 BC056889 AK095057 CD627588 T35011 
    AI457166 AF153685 BX537968 W15377 BC002739 BM543504 AL134216 BX327899 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for C5orf45 (see all 11)    About this scheme

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


    ECgene alternative splicing isoforms for C5orf45

    (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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    C5orf45 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    C5orf45 Expression
    About this image

    C5orf45 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C5orf45 Protein Expression
        Custom PCR Arrays for C5orf45
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C5orf45

    (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 animals.

    Orthologs for C5orf45 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 3010026O09Rik1 , 5 RIKEN cDNA 3010026O09 gene1, 5 67.57(n)1
    53.01(a)1
      11 (30.33 cM)5
    680671  NM_026543.31  NP_080819.21 
     501744445 
    lizard
    (Anolis carolinensis)
    Reptilia C5orf456
    chromosome 5 open reading frame 45
    46(a)
    1 ↔ 1
    2(140123013-140130094)
    zebrafish
    (Danio rerio)
    Actinopterygii C14H5orf456
    chromosome 5 open reading frame 45
    21(a)
    1 ↔ 1
    14(14452352-14457584) ENSDARG00000074071
    fruit fly
    (Drosophila melanogaster)
    Insecta CG432956
    --
    27(a)
    1 ↔ 1
    3L(16098952-16099528)


    ENSEMBL Gene Tree for C5orf45 (if available)
    TreeFam Gene Tree for C5orf45 (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 C5orf45 (see all 527)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1429970001,2
    --179265651(+) AGCCTA/GGGCAA 2 -- int10--------
    rs1506924621,2
    --179265662(+) CAGAGC/TGAACT 2 -- int10--------
    rs1836747371,2
    --179265867(+) CTCGGA/GAGGAT 2 -- int10--------
    rs1161369101,2
    F--179265883(+) AAGCCC/TGGGAG 2 -- int11Minor allele frequency- T:0.02WA 118
    rs733340631,2
    C,F--179265884(+) AGCCCG/AGGAGA 2 -- int13Minor allele frequency- A:0.08WA 122
    rs1398861831,2
    --179265924(+) ATTGCA/GCTCCA 2 -- int10--------
    rs1447829151,2
    --179265935(+) GCCTAA/GGTGAC 2 -- int10--------
    rs4416591,2
    C,F--179266242(+) GTGAAA/GCTCCT 2 -- int13Minor allele frequency- G:0.20WA CSA 121
    rs2482461,2
    C--179266268(+) aaaaaC/AaaCAG 2 -- int11Minor allele frequency- A:0.50NA 2
    rs1873836681,2
    --179266313(+) TGAAAA/GCAGCG 2 -- int10--------

    HapMap Linkage Disequilibrium report for C5orf45 (179261436 - 179289173 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for C5orf45:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667626CNV Deletion23128226
    esv2731311CNV Deletion23290073
    esv2731309CNV Deletion23290073
    esv2731310CNV Deletion23290073
    nsv883270CNV Loss21882294
    nsv469579CNV Loss16826518
    nsv483062CNV Loss15286789
    nsv883275CNV Loss21882294
    dgv6400n71CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C5orf45
    DNA2.0 Custom Variant and Variant Library Synthesis for C5orf45

    (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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    (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 C5orf45 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with C5orf45)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    2. Genome-scale RNAi screen for host factors required for HIV replication. (PubMed id 18976975)1 Zhou H....Espeseth A.S. (amp 2008)
    3. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    4. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    5. The LIFEdb database in 2006. (PubMed id 16381901)1 Mehrle A....Wiemann S. (Nucleic Acids Res. 2006)
    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. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (Nature 2004)
    9. From ORFeome to biology: a functional genomics pipeline. (PubMed id 15489336)1 Wiemann S....Poustka A. (Genome Res. 2004)
    10. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (Nat. Biotechnol. 2004)

    (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: 51149 HGNC: 30817 AceView: LOC51149 Ensembl:ENSG00000161010 euGenes: HUgn51149
    ECgene: C5orf45 H-InvDB: C5orf45

    (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 C5orf45 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 C5orf45 gene:
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    (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, 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
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