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

C7orf49 Gene

protein-coding   GIFtS: 43
GCID: GC07M134777

chromosome 7 open reading frame 49

 Explore 2 diseases affiliated with
C7orf49 via our new
 Human Malady Compendium 
Biological research products
for C7orf49
    

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

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

Quality score for the ORGUL clustered with this gene is 3

Aliases
Chromosome 7 Open Reading Frame 491 2
MRI1 2
FLJ224501
FLJ272851
MGC52421
Modulator Of Retrovirus Infection Homolog2

External Ids:    HGNC: 224321   Entrez Gene: 789962   Ensembl: ENSG000001227837   UniProtKB: Q9BWK53   
ORGUL members:         
NONCODE:n341328    

Export aliases for C7orf49 gene to outside databases

Previous GC identifers: GC07M134501 GC07M129153


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

UniProtKB/Swiss-Prot: MRI_HUMAN, Q9BWK5
Function: May act as a regulator of proteasome (By similarity)




(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_000007.13  NC_018918.1  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C7orf49 gene promoter:
         GR   NF-1/L   NF-1   AML1a   p53   Pax-2   Pax-2a   LUN-1   c-Myb   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): C7orf49 promoter sequence
   Search SABiosciences Chromatin IP Primers for C7orf49

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C7orf49


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

Entrez Gene cytogenetic band: 7q33   Ensembl cytogenetic band:  7q33   HGNC cytogenetic band: 7q33

C7orf49 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C7orf49 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M134777:  view genomic region     (about GC identifiers)

Start:
134,777,115 bp from pter      End:
134,855,547 bp from pter
Size:
78,433 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 134,194,890-134,199,890     

(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: MRI_HUMAN, Q9BWK5 (See protein sequence)
Recommended Name: Modulator of retrovirus infection homolog  
Size: 157 amino acids; 16829 Da
Subcellular location: Cytoplasm (By similarity)
Sequence caution: Sequence=AAH00168.1; Type=Erroneous initiation;
Secondary accessions: Q6NWZ4 Q6ZNR5
Alternative splicing: 3 isoforms:  Q9BWK5-1   Q9BWK5-2   Q9BWK5-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C7orf49: NX_Q9BWK5

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BWK5

  • C7orf49 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (7 alternative transcripts): 
    NP_001230678.1  NP_001230680.1  NP_001230681.1  NP_001230682.1  NP_001230683.1  NP_001230684.1  NP_076938.2  

    ENSEMBL proteins: 
     ENSP00000415192   ENSP00000400024   ENSP00000376823   ENSP00000389941  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: C7orf49
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    Novus Biologicals C7orf49 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for C7orf49

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

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


    C7orf49 for ontologies           About GeneDecksing



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    Uscn Antibodies for C7orf49
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    Uscn ELISAs and CLIAs for C7orf49


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

    ProtoNet protein and cluster: Q9BWK5


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

    Function Summary:

         UniProtKB/Swiss-Prot: MRI_HUMAN, Q9BWK5
    Function: May act as a regulator of proteasome (By similarity)

    miRNA
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    hsa-miR-218-1* hsa-miR-223* hsa-miR-4308
    SwitchGear 3'UTR luciferase reporter plasmidC7orf49 3' UTR sequence
    Inhib. RNA
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat C7orf49 

    Cell Line
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    Search LifeMap BioReagents cell lines for C7orf49

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7orf49

    1 GenomeRNAi human phenotype for C7orf49:
     Cell cycle / mitosis defect 


    (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 C7orf49

    (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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C7orf49
    Search CenterWatch for drugs/clinical trials and news about C7orf49 / MRI 

    (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, 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 C7orf49 gene (7 alternative transcripts): 
    NM_001243749.1  NM_001243751.1  NM_001243752.1  NM_001243753.1  NM_001243754.1  NM_001243755.1  NM_024033.3  

    Unigene Cluster for C7orf49:

    Chromosome 7 open reading frame 49
    Hs.521213  [show with all ESTs]
    Unigene Representative Sequence: NM_001243749
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000459937(uc003vsg.3 uc003vsh.3) ENST00000464070 ENST00000435834(uc003vsj.3)
    ENST00000424142(uc022alz.1 uc022amb.1 uc003vsk.3) ENST00000393114(uc022ama.1)
    ENST00000430372(uc003vsm.3 uc003vso.3 uc003vsl.3) ENST00000481410
    ENST00000483029 ENST00000472428 ENST00000477820 ENST00000488161 ENST00000487774
    ENST00000486115

    miRNA
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    OriGene 3'-UTR Clone: C7orf49
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate C7orf49:
    hsa-miR-218-1* hsa-miR-223* hsa-miR-4308
    SwitchGear 3'UTR luciferase reporter plasmidC7orf49 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for C7orf49 (see all 4)
    OriGene shRNA RFP: C7orf49
    OriGene siRNA: C7orf49
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat C7orf49
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for C7orf49 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for C7orf49 (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: C7orf49 (NM_024033)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for C7orf49
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C7orf49
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C7orf49

    Additional cDNA sequence: 

    AK026103.1 BC000168.2 BC067350.1 

    23 DOTS entries:

    DT.95208627  DT.107104  DT.100029815  DT.446506  DT.97854645  DT.100821173  DT.97810909  DT.97802988 
    DT.100799308  DT.100821163  DT.121060841  DT.121060787  DT.92005487  DT.409242  DT.92415145  DT.95149953 
    DT.95158236  DT.100837226  DT.121060558  DT.121060871  DT.95158232  DT.100821157  DT.444226 

    24/285 AceView cDNA sequences (see all 285):

    BQ440169 AA906037 BU539869 BC024018 BM789844 BU621670 BE785683 AW167607 
    CR596076 AK130795 BC000168 BQ949282 BM727569 BQ226755 CB132170 AW515167 
    AI827176 BC010361 AA954030 AW575793 AW275190 BM977393 AI187313 BM727136 

    GeneLoc Exon Structure

    5/9 Alternative Splicing Database (ASD) splice patterns (SP) for C7orf49 (see all 9)    About this scheme

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


    ECgene alternative splicing isoforms for C7orf49

    (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

    C7orf49 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCTCTGCCTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See C7orf49 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C7orf49

    SOURCE GeneReport for Unigene cluster: Hs.521213
        SABiosciences Custom PCR Arrays for C7orf49
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C7orf49
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7orf49

    (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 common ancestor of human and mouse.

    Orthologs for C7orf49 gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 3110062M04Rik1 , 5 RIKEN cDNA 3110062M04 gene1, 5 75.6(n)1
    67.97(a)1
      6 (15.18 cM)5
    784121  NM_001135611.11  NP_001129083.11 
     348717715 


    ENSEMBL Gene Tree for C7orf49 (if available)
    TreeFam Gene Tree for C7orf49 (if available) 

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

    (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

    10/158 NCBI SNPs in C7orf49 are shown (see all 158    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs102373821,2
    H--134851523(+) TGCTCC/GCAGAA 10 A G ut31 mis14Minor allele frequency- G:0.00NS EA 416
    rs1462894821,2
    C,F--134851540(+) TGAGGA/C/TGACAC 17 S ut31 syn12NA EU 5873
    rs1395666111,2
    C,F--134851541(+) GAGGCG/AACACG 10 /S /L mis1 ut312Minor allele frequency- A:0.00NA EU 5873
    rs1996722251,2
    --134851546(+) GACACA/GGAGCA 10 S syn1 ut310--------
    rs1512304141,2
    C,F,--134851604(+) CGCAGG/ACCTTT 10 /A /V mis1 ut311Minor allele frequency- A:0.00NA 4552
    rs1832483721,2
    C,--134851620(+) TTTGCA/GGCTCT 10 R C mis1 ut310--------
    rs2009628601,2
    --134851635(+) AGTACA/GGGAAA 7 -- int10--------
    rs1879604081,2
    C,--134851636(+) GTACGA/GGAAAA 7 -- int10--------
    rs1999089621,2
    --134851643(+) AAAACA/GCAGGC 7 -- int10--------
    rs117633681,2
    C,H--134851671(+) TTTCCC/TTAACA 7 -- int14Minor allele frequency- T:0.00NS EA 420

    HapMap Linkage Disequilibrium report for C7orf49 (134777115 - 134855547 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for C7orf49: --

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing C7orf49
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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

    C7orf49 for disorders           About GeneDecksing

    2 diseases for C7orf49:    About MalaCards
    cerebellar disease    liver lymphoma

    1 disease from the University of Copenhagen DISEASES database for C7orf49:
    post-traumatic stress disorder

    Export disorders for C7orf49 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)
    About This Section

    PubMed articles for C7orf49 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with C7orf49)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation, characterization, and genetic complementation of a cellular mutant resistant to retroviral infection. (PubMed id 17043244)1, 3 Agarwal S....Somia N.V. (2006)
    2. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (2003)
    3. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    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. (2006)
    5. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (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. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
    8. 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)
    9. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)

    (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: 78996 HGNC: 22432 AceView: MGC5242 Ensembl:ENSG00000122783 euGenes: HUgn78996
    ECgene: C7orf49 H-InvDB: C7orf49

    (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 C7orf49 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 C7orf49 gene:
    Search GeneIP for patents involving C7orf49

    GeneCards and IP:
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    von Willebrand factor
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