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

C7orf55 Gene

protein-coding   GIFtS: 39
GCID: GC07P139024

Chromosome 7 Open Reading Frame 55

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chromosome 7 Open Reading Frame 551 2
Formation Of Mitochondrial Complexes 1 Homolog (S. Cerevisiae)1
FMC12
Formation Of Mitochondrial Complexes 1 Homolog2
UPF0562 Protein C7orf552

External Ids:    HGNC: 269461   Entrez Gene: 1547912   Ensembl: ENSG000001648987   UniProtKB: Q96HJ93   

Export aliases for C7orf55 gene to outside databases

Previous GC identifers: GC07P138679 GC07P133335


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

GeneCards Summary for C7orf55 Gene: 
C7orf55 (chromosome 7 open reading frame 55) is a protein-coding gene. Diseases associated with C7orf55 include intrahepatic cholangiocarcinoma, and cholangiocarcinoma.


(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.2  NT_007933.15  NT_079596.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C7orf55 gene promoter:
         E2F-4   E2F-3a   E2F-5   STAT1   Elk-1   HTF   E2F-2   FOXL1   YY1   Nkx6-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC7orf55 promoter sequence
   Search SABiosciences Chromatin IP Primers for C7orf55

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C7orf55


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

Entrez Gene cytogenetic band: 7q34   Ensembl cytogenetic band:  7q34   HGNC cytogenetic band: 7q34

C7orf55 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C7orf55 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P139024:  view genomic region     (about GC identifiers)

Start:
139,024,203 bp from pter      End:
139,031,065 bp from pter
Size:
6,863 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 138,370,469-138,375,111     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CG055_HUMAN, Q96HJ9 (See protein sequence)
Recommended Name: UPF0562 protein C7orf55  
Size: 113 amino acids; 12749 Da
Sequence caution: Sequence=AAF28946.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=AAF28946.1; Type=Frameshift; Positions=64;
Secondary accessions: B7Z4Q3 Q75M90 Q9P0B3
Alternative splicing: 2 isoforms:  Q96HJ9-1   Q96HJ9-2   (No experimental confirmation available. Contains a phosphothreonine at position 177. Contains a phosphoserine at position 449. Contains a phosphoserine at position 450)

Explore the universe of human proteins at neXtProt for C7orf55: NX_Q96HJ9

Explore proteomics data for C7orf55 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96HJ9

  • C7orf55 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C7orf55 Protein Expression
    REFSEQ proteins: NP_932068.2  
    ENSEMBL proteins: 
     ENSP00000297534  

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--

    C7orf55 for ontologies           About GeneDecksing



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

    ProtoNet protein and cluster: Q96HJ9

    UniProtKB/Swiss-Prot: CG055_HUMAN, Q96HJ9
    Similarity: Belongs to the UPF0562 family


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Phenotypes:
         2 GenomeRNAi human phenotypes for C7orf55:
     G2 arrest  Increased G2M DNA content 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for C7orf55 
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C7orf55

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 C7orf55 (CG055)

    Search CenterWatch for drugs/clinical trials and news about C7orf55 / CG055

    (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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C7orf55 gene: 
    NM_197964.4  

    Unigene Cluster for C7orf55:

    Chromosome 7 open reading frame 55
    Hs.718441  [show with all ESTs]
    Unigene Representative Sequence: NM_197964
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000468383 ENST00000481123 ENST00000482181 ENST00000488886 ENST00000297534(uc003vuw.4)

    miRNA
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C7orf55
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C7orf55

    Additional mRNA sequence: 

    AF161386.1 BC008467.1 NR_073058.1 NR_073059.1 NR_073060.1 

    6 DOTS entries:

    DT.115234  DT.86840603  DT.121052391  DT.121052298  DT.92422379  DT.100775072 

    24/129 AceView cDNA sequences (see all 129):

    W84495 AK093018 CB125801 AI187411 AA975941 AW612658 BM668413 BF446095 
    AI138856 BX116138 BM924406 AI138857 BQ889014 AI479418 AI094689 BM693181 
    AI366709 AI306498 N73669 BM672187 AI870613 BE857372 AI273636 AI292139 

    GeneLoc Exon Structure


    (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

    C7orf55 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGAATATCC
    C7orf55 Expression
    About this image


    See C7orf55 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C7orf55

    SOURCE GeneReport for Unigene cluster: Hs.718441
        SABiosciences Custom PCR Arrays for C7orf55
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C7orf55

    (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 animals.

    Orthologs for C7orf55 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 1110001J03Rik1 , 5 RIKEN cDNA 1110001J03 gene1, 5 88.5(n)1
    92.92(a)1
      6 (17.84 cM)5
    661171  NM_025363.31  NP_079639.11 
     385335025 
    chicken
    (Gallus gallus)
    Aves C1H7orf551 chromosome 1 open reading frame, human C7orf55 71.96(n)
    79.44(a)
      770530  XM_001233540.2  XP_001233541.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.129892 Xenopus laevis transcribed sequence with weak similarity to protein refNP_079639.1 (M.musculus) RIKEN cDNA 1110001J03 [Mus musculus] less 74(n)    BJ094950.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003306601 UPF0562 protein C7orf55 homolog 54.74(n)
    47.71(a)
      100330660  XM_002661013.2  XP_002661059.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG341176
    --
    41(a)
    1 ↔ 1
    3R(5225292-5225771)
    worm
    (Caenorhabditis elegans)
    Secernentea C29E4.126
    UPF0562 protein C29E4.12
    31(a)
    1 ↔ 1
    III(7941060-7941613)


    ENSEMBL Gene Tree for C7orf55 (if available)
    TreeFam Gene Tree for C7orf55 (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, 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) 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

    1 SNPs in C7orf55 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0425204
    ----see VAR_0425202 S A mis40--------

    HapMap Linkage Disequilibrium report for C7orf55 (139024203 - 139031065 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for C7orf55:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2735212CNV Deletion23290073

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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.)
    About This Section
    2 diseases for C7orf55:    About MalaCards
    intrahepatic cholangiocarcinoma    cholangiocarcinoma


    C7orf55 for disorders           About GeneDecksing

    Genetic Association Database (GAD): C7orf55
    Human Genome Epidemiology (HuGE) Navigator: C7orf55 (1 document)

    Export disorders for C7orf55 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 C7orf55 gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with C7orf55)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic variants in nuclear-encoded mitochondrial gen es influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (2010)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (2003)
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    5. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    6. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    7. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    8. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)2 Dephoure N.... Gygi S.P. (2008)
    9. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. (PubMed id 17525332)2 Matsuoka S.... Elledge S.J. (2007)
    10. Identification of intrahepatic cholangiocarcinoma related genes by comparison with normal liver tissues using expressed sequence tags. (PubMed id 16712791)1 Wang A.G....Kim N.S. (2006)

    (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: 154791 HGNC: 26946 AceView: HSPC268 Ensembl:ENSG00000164898 euGenes: HUgn154791
    ECgene: C7orf55 H-InvDB: C7orf55

    (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 C7orf55 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 C7orf55 gene:
    Search GeneIP for patents involving C7orf55

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
    transforming growth factor, beta 1
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