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Aliases for C7orf49 Gene

Aliases for C7orf49 Gene

  • Chromosome 7 Open Reading Frame 49 2 3 5
  • MRI 3 4
  • Modulator Of Retrovirus Infection Homolog 3
  • Modulator Of Retrovirus Infection 2
  • MRI-2 3

External Ids for C7orf49 Gene

Previous GeneCards Identifiers for C7orf49 Gene

  • GC07M134501
  • GC07M134777
  • GC07M129153

Summaries for C7orf49 Gene

GeneCards Summary for C7orf49 Gene

C7orf49 (Chromosome 7 Open Reading Frame 49) is a Protein Coding gene.

UniProtKB/Swiss-Prot for C7orf49 Gene

  • May participate in the non-homologous end joining pathway of DNA double-strand break (DSB) repair (PubMed:24610814). May act as a regulator of proteasome (By similarity).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C7orf49 Gene

Genomics for C7orf49 Gene

Regulatory Elements for C7orf49 Gene

Enhancers for C7orf49 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G135158 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.5 +10.3 10335 4.6 HDGF PKNOX1 FOXA2 ARNT WRNIP1 ARID4B YY1 ZNF766 CBX5 FOS C7orf49 WDR91 TMEM140 CNOT4 PIR50393 GC07M135162
GH07G135146 1.8 FANTOM5 ENCODE dbSUPER 19.7 +21.3 21276 6.6 HDGF FOXA2 PKNOX1 MLX ARNT ARID4B SIN3A YBX1 YY1 ZNF766 TMEM140 C7orf49 AGBL3 WDR91 CNOT4 PIR50393 GC07M135162
GH07G135163 1.4 ENCODE dbSUPER 21.2 +2.3 2344 9.2 MLX CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 SP3 SSRP1 ZNF610 ENSG00000231794 WDR91 C7orf49 TMEM140 ENSG00000273219 AGBL3 ENSG00000272941
GH07G134668 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +501.0 500954 3.0 CBX3 RAD21 YY1 GATA2 FOS CREM CEBPB KAT8 NR2F2 ZFP69B TMEM140 C7orf49 ENSG00000231794 WDR91 BPGM ENSG00000224375
GH07G135206 1.6 Ensembl ENCODE dbSUPER 10.9 -36.3 -36252 1.6 HDGF PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ENSG00000231794 WDR91 STRA8 C7orf49 TMEM140 AGBL3 MIR6509
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C7orf49 on UCSC Golden Path with GeneCards custom track

Promoters for C7orf49 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000218549 226 1601 CREB3L1 AGO1 ZFP64 DMAP1 YY1 ZNF143 SP3 ZNF610 GLIS1 RCOR2

Genomic Location for C7orf49 Gene

Chromosome:
7
Start:
135,092,363 bp from pter
End:
135,170,826 bp from pter
Size:
78,464 bases
Orientation:
Minus strand

Genomic View for C7orf49 Gene

Genes around C7orf49 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C7orf49 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C7orf49 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C7orf49 Gene

Proteins for C7orf49 Gene

  • Protein details for C7orf49 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BWK5-MRI_HUMAN
    Recommended name:
    Modulator of retrovirus infection homolog
    Protein Accession:
    Q9BWK5
    Secondary Accessions:
    • A0A024R780
    • A0A087WWQ8
    • Q6NWZ4
    • Q6ZNR5

    Protein attributes for C7orf49 Gene

    Size:
    157 amino acids
    Molecular mass:
    16829 Da
    Quaternary structure:
    • Both isoform 1 and isoform 4, but not isoform 3, interact with XRCC5/Ku80 and XRCC6/Ku70 heterodimer.
    SequenceCaution:
    • Sequence=AAH00168.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for C7orf49 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C7orf49 Gene

Post-translational modifications for C7orf49 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for C7orf49 Gene

Domains & Families for C7orf49 Gene

Protein Domains for C7orf49 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C7orf49 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C7orf49: view

No data available for Gene Families and UniProtKB/Swiss-Prot for C7orf49 Gene

Function for C7orf49 Gene

Molecular function for C7orf49 Gene

UniProtKB/Swiss-Prot Function:
May participate in the non-homologous end joining pathway of DNA double-strand break (DSB) repair (PubMed:24610814). May act as a regulator of proteasome (By similarity).

Gene Ontology (GO) - Molecular Function for C7orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24610814
genes like me logo Genes that share ontologies with C7orf49: view
genes like me logo Genes that share phenotypes with C7orf49: view

Animal Models for C7orf49 Gene

MGI Knock Outs for C7orf49:

Animal Model Products

CRISPR Products

miRNA for C7orf49 Gene

miRTarBase miRNAs that target C7orf49

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for C7orf49 Gene

Localization for C7orf49 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C7orf49 Gene

Isoform 1: Cytoplasm. Nucleus. Note=Nuclear localization may depend upon interaction with XRCC5/Ku80 and XRCC6/Ku70 heterodimer. {ECO:0000269 PubMed:24610814}.
Isoform 3: Cytoplasm. Note=Some nuclear localization may be due to passive diffusion. {ECO:0000269 PubMed:24610814}.
Isoform 4: Cytoplasm. Nucleus. Note=Nuclear localization may depend upon interaction with XRCC5/Ku80 and XRCC6/Ku70 heterodimer and increases upon etoposide treatment. {ECO:0000269 PubMed:24610814}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C7orf49 gene
Compartment Confidence
nucleus 5
cytosol 2
golgi apparatus 2

Gene Ontology (GO) - Cellular Components for C7orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 24610814
GO:0005737 cytoplasm IDA,IEA 24610814
genes like me logo Genes that share ontologies with C7orf49: view

Pathways & Interactions for C7orf49 Gene

SuperPathways for C7orf49 Gene

No Data Available

Interacting Proteins for C7orf49 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000376823%0d%0a9606.ENSP00000288985%0d%0a
Selected Interacting proteins: Q9BWK5-MRI_HUMAN ENSP00000376823 for C7orf49 Gene via IID UniProtKB STRING

Gene Ontology (GO) - Biological Process for C7orf49 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006303 double-strand break repair via nonhomologous end joining IDA 24610814
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with C7orf49: view

No data available for Pathways by source and SIGNOR curated interactions for C7orf49 Gene

Drugs & Compounds for C7orf49 Gene

No Compound Related Data Available

Transcripts for C7orf49 Gene

Unigene Clusters for C7orf49 Gene

Chromosome 7 open reading frame 49:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for C7orf49 Gene

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: - - - -
SP6: - -
SP7: - - - -
SP8: - - - - - -
SP9: - - -

Relevant External Links for C7orf49 Gene

GeneLoc Exon Structure for
C7orf49
ECgene alternative splicing isoforms for
C7orf49

Expression for C7orf49 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C7orf49 Gene

Protein differential expression in normal tissues from HIPED for C7orf49 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C7orf49 Gene



Protein tissue co-expression partners for C7orf49 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C7orf49 Gene:

C7orf49

SOURCE GeneReport for Unigene cluster for C7orf49 Gene:

Hs.744954

Evidence on tissue expression from TISSUES for C7orf49 Gene

  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with C7orf49: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C7orf49 Gene

Orthologs for C7orf49 Gene

This gene was present in the common ancestor of mammals.

Orthologs for C7orf49 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C7H7orf49 34
  • 99.36 (n)
C7orf49 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C4H7orf49 34
  • 73.65 (n)
C7orf49 35
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C16H7orf49 34
  • 73.24 (n)
C7orf49 35
  • 34 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC500077 34
  • 72.4 (n)
mouse
(Mus musculus)
Mammalia 3110062M04Rik 34 16 35
  • 70.81 (n)
oppossum
(Monodelphis domestica)
Mammalia C7orf49 35
  • 44 (a)
OneToOne
Species where no ortholog for C7orf49 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for C7orf49 Gene

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

Paralogs for C7orf49 Gene

(1) SIMAP similar genes for C7orf49 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with C7orf49: view

No data available for Paralogs for C7orf49 Gene

Variants for C7orf49 Gene

Sequence variations from dbSNP and Humsavar for C7orf49 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs776124276 A colorectal cancer sample 135,166,840(+) GGGCC(A/G)GCTGC intron-variant, reference, missense, utr-variant-3-prime
rs1000003403 -- 135,162,789(+) CATAC(C/T)GGAAA intron-variant, utr-variant-3-prime
rs1000021723 -- 135,131,449(+) AAAGG(-/A)AACAA intron-variant
rs1000057053 -- 135,156,203(+) GACAT(G/T)TTGAA intron-variant
rs1000160436 -- 135,104,120(+) TGTCC(C/G)TATGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C7orf49 Gene

Variant ID Type Subtype PubMed ID
nsv527014 CNV gain 19592680

Variation tolerance for C7orf49 Gene

Residual Variation Intolerance Score: 65.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 5.03% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C7orf49 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C7orf49

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C7orf49 Gene

Disorders for C7orf49 Gene

Relevant External Links for C7orf49

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C7orf49

No disorders were found for C7orf49 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C7orf49 Gene

Publications for C7orf49 Gene

  1. A human short open reading frame (sORF)-encoded polypeptide that stimulates DNA end joining. (PMID: 24610814) Slavoff S.A. … Saghatelian A. (J. Biol. Chem. 2014) 2 3 4 64
  2. The Ku-binding motif is a conserved module for recruitment and stimulation of non-homologous end-joining proteins. (PMID: 27063109) Grundy G.J. … Caldecott K.W. (Nat Commun 2016) 2 3 64
  3. Isolation, characterization, and genetic complementation of a cellular mutant resistant to retroviral infection. (PMID: 17043244) Agarwal S. … Somia N.V. (Proc. Natl. Acad. Sci. U.S.A. 2006) 2 3 64
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64

Products for C7orf49 Gene

Sources for C7orf49 Gene

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