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CCDC71L Gene

protein-coding   GIFtS: 32
GCID: GC07M106298

Coiled-Coil Domain Containing 71-Like

(Previous name: chromosome 7 open reading frame 74)
(Previous symbol: C7orf74)
  See related disease
at  

(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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Aliases
Coiled-Coil Domain Containing 71-Like1 2
C7orf741 2 3
Chromosome 7 Open Reading Frame 741
Coiled-Coil Domain-Containing Protein 71L2

External Ids:    HGNC: 266851   Entrez Gene: 1684552   Ensembl: ENSG000002532767   UniProtKB: Q8N9Z23   

Export aliases for CCDC71L gene to outside databases


(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 CCDC71L Gene:
CCDC71L (coiled-coil domain containing 71-like) is a protein-coding gene. Diseases associated with CCDC71L include choroiditis.


(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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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CCDC71L
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CCDC71L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC71L


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

Entrez Gene cytogenetic band: 7q22.3   Ensembl cytogenetic band:  7q22.3   HGNC cytogenetic band: 7q22.3

CCDC71L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC71L gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M106298:  view genomic region     (about GC identifiers)

Start:
106,297,211 bp from pter      End:
106,301,634 bp from pter
Size:
4,424 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 105,658,327-105,662,750     

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CC71L_HUMAN, Q8N9Z2 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 71L  
Size: 235 amino acids; 26261 Da
Sequence caution: Sequence=AAH13906.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=EAL24398.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q7Z756
Alternative splicing: 2 isoforms:  Q8N9Z2-1   Q8N9Z2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC71L: NX_Q8N9Z2

Explore proteomics data for CCDC71L at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys54, Lys61, Lys96
  • Modification sites at PhosphoSitePlus

  • See CCDC71L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_787080.2  
    ENSEMBL proteins: 
     ENSP00000430897  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026695 Ccdc71/71L

    Graphical View of Domain Structure for InterPro Entry Q8N9Z2

    ProtoNet protein and cluster: Q8N9Z2


    CCDC71L for domains           About GeneDecksing


    (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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Phenotypes:
         1 GenomeRNAi human phenotype for CCDC71L:
     Big cells 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC71L
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    (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 CCDC71L
    Interactions:

        Search GeneGlobe Interaction Network for CCDC71L

    (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 CCDC71L (CC71L)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CCDC71L gene: 
    NM_175884.4  

    Unigene Clusters for CCDC71L:

    Coiled-coil domain containing 71-like
    Hs.29692  [show with all ESTs], Hs.633903  [show with all ESTs]
    Unigene Representative Sequences: NM_175884, AK098422
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000523505(uc003vdt.3)
    miRNA
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    Additional mRNA sequence: 

    AK021498.1 AK098422.1 

    4 DOTS entries:

    DT.40208778  DT.312769  DT.100671132  DT.121110529 

    Selected AceView cDNA sequences (see all 169):

    BF000116 BE466274 BF434080 BE466269 AI693976 AI672172 CA446906 CA397148 
    AW009641 AI342077 AI566917 AI333382 BE271810 BC013906 CB068657 BM128536 
    BM054745 AX748070 AI824006 NM_175884 AK093350 BU624778 AA187538 AI825765 

    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™, 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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    CCDC71L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAACTTTTG
    CCDC71L Expression
    About this image

    CCDC71L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC71L Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.29692 Hs.633903
        Custom PCR Arrays for CCDC71L
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC71L

    (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 chordates.

    Orthologs for CCDC71L gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ccdc71l1 , 5 RIKEN cDNA 2010109K11 gene5
    coiled-coil domain containing 71 like1
    80.07(n)1
    74.02(a)1
      12 (13.74 cM)5
    721231  NM_001162903.11  NP_001156375.11 
     323787045 
    chicken
    (Gallus gallus)
    Aves CCDC71L6
    coiled-coil domain containing 71-like
    72(a)
    1 ↔ 1
    1(14180471-14180770)
    lizard
    (Anolis carolinensis)
    Reptilia CCDC71L6
    coiled-coil domain containing 71-like
    48(a)
    1 ↔ 1
    5(97069200-97069850)


    ENSEMBL Gene Tree for CCDC71L (if available)
    TreeFam Gene Tree for CCDC71L (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 CCDC71L (see all 108)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs119837971,2
    C,F,A,H--106296721(+) GAATCC/TGGCTC 1 -- int12Minor allele frequency- T:0.13WA 120
    rs1501234391,2
    C--106296915(+) GTCAGA/GATTTA 1 -- int10--------
    rs1388880201,2
    --106296975(+) TGGCAA/CACTGG 1 -- int10--------
    rs615228501,2
    C--106297068(+) ACAAAA/GAACAA 1 -- int14Minor allele frequency- G:0.27NA WA EA 360
    rs102801941,2
    C,F--106297078(+) AATCTC/TGAGAT 1 -- int11Minor allele frequency- T:0.06WA 118
    rs1421955821,2
    --106297134(+) GTAAAC/TTAAGA 1 -- int10--------
    rs1170001501,2
    C,F--106297145(+) TGTTTT/CCTGAG 1 -- int11Minor allele frequency- C:0.05EA 120
    rs1884443541,2
    --106297160(+) ATACAA/GATACA 1 -- int10--------
    rs1463806681,2
    --106297168(+) ACAAAA/GTACCA 1 -- int10--------
    rs2007486681,2
    C--106297521(+) TTACT-/AAAGAGT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CCDC71L (106297211 - 106301634 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for CCDC71L: --
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing CCDC71L
    DNA2.0 Custom Variant and Variant Library Synthesis for CCDC71L

    (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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    1 disease for CCDC71L:    
    About MalaCards
    choroiditis


    CCDC71L for disorders           About GeneDecksing


    Export disorders for CCDC71L 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)
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    PubMed articles for CCDC71L gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC71L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    3. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    4. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    5. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    6. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    7. 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)
    8. The DNA sequence of human chromosome 7. (PubMed id 12853948)2 Hillier L.W.... Wilson R.K. (Nature 2003)
    9. Expressed sequence tag analysis of human RPE/choroid for the NEIBank project: over 6000 non-redundant transcripts, novel genes and splice variants. (PubMed id 12107410)1 Wistow G.... Peterson K. (Mol. Vis. 2002)
    10. Generation and analysis of 280,000 human expressed sequence tags. (PubMed id 8889549)1 Hillier L.D....Marra M. (Genome Res. 1996)

    (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: 168455 HGNC: 26685 AceView: FLJ36031 Ensembl:ENSG00000253276 euGenes: HUgn168455
    ECgene: CCDC71L H-InvDB: CCDC71L

    (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 CCDC71L 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 CCDC71L gene:
    Search GeneIP for patents involving CCDC71L

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC71L
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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