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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 2

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. Diseases associated with C7orf49 include Liver Lymphoma and Hajdu-Cheney Syndrome.

UniProtKB/Swiss-Prot for C7orf49 Gene

  • May act as a regulator of proteasome.

No data available for Entrez Gene 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around C7orf49 on UCSC Golden Path with GeneCards custom track

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:
    • Q6NWZ4
    • Q6ZNR5

    Protein attributes for C7orf49 Gene

    Size:
    157 amino acids
    Molecular mass:
    16829 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH00168.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for C7orf49 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C7orf49 Gene

Proteomics data for C7orf49 Gene at MOPED

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 act as a regulator of proteasome.
genes like me logo Genes that share phenotypes with C7orf49: view

Animal Model Products

CRISPR Products

miRNA for C7orf49 Gene

miRTarBase miRNAs that target C7orf49

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C7orf49 Gene

Localization for C7orf49 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C7orf49 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C7orf49 Gene COMPARTMENTS Subcellular localization image for C7orf49 gene
Compartment Confidence
nucleus 3
cytosol 2
golgi apparatus 2

No data available for Gene Ontology (GO) - Cellular Components for C7orf49 Gene

Pathways & Interactions for C7orf49 Gene

SuperPathways for C7orf49 Gene

No Data Available

Interacting Proteins for C7orf49 Gene

STRING Interaction Network Preview (showing 2 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000376823%0d%0a9606.ENSP00000288985%0d%0a9606.ENSP00000344818%0d%0a
Selected Interacting proteins: ENSP00000376823 Q9BWK5-MRI_HUMAN for C7orf49 Gene via STRING UniProtKB

Gene Ontology (GO) - Biological Process for C7orf49 Gene

None

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:

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 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



SOURCE GeneReport for Unigene cluster for C7orf49 Gene Hs.744954

genes like me logo Genes that share expression patterns with C7orf49: view

Protein tissue co-expression partners for C7orf49 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia C4H7orf49 35
  • 73.65 (n)
  • 64.19 (a)
C7orf49 36
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C16H7orf49 35
  • 73.24 (n)
  • 59.86 (a)
C7orf49 36
  • 34 (a)
OneToOne
mouse
(Mus musculus)
Mammalia 3110062M04Rik 35
  • 70.81 (n)
  • 62.75 (a)
3110062M04Rik 16
3110062M04Rik 36
  • 66 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C7H7orf49 35
  • 99.36 (n)
  • 99.36 (a)
C7orf49 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC500077 35
  • 72.4 (n)
  • 63.06 (a)
oppossum
(Monodelphis domestica)
Mammalia C7orf49 36
  • 44 (a)
OneToOne
Species with no ortholog for C7orf49:
  • 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
rs1134044 -- 135,172,135(+) gtggc(A/C)tgatc upstream-variant-2KB
rs1134045 -- 135,172,146(+) accca(C/G)ggtgt upstream-variant-2KB
rs1134046 -- 135,172,157(+) gcctg(C/T)attgg upstream-variant-2KB
rs1134049 -- 135,172,315(+) ctgga(C/T)acttt upstream-variant-2KB
rs1134052 -- 135,172,357(+) ggtac(A/T)cggat upstream-variant-2KB

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)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for C7orf49 Gene

Disorders for C7orf49 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C7orf49 Gene - From: DISEASES

Disorder Aliases PubMed IDs
liver lymphoma
  • lymphoma of liver
hajdu-cheney syndrome
  • acroosteolysis dominant type
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for C7orf49

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C7orf49
genes like me logo Genes that share disorders with C7orf49: view

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

Publications for C7orf49 Gene

  1. 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 67
  2. Developmental changes in the transcriptome of human cerebral cortex tissue: long noncoding RNA transcripts. (PMID: 23377288) Lipovich L. … Wildman D.E. (Cereb. Cortex 2014) 3
  3. 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) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3

Products for C7orf49 Gene

Sources for C7orf49 Gene

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