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CCDC144A Gene

protein-coding   GIFtS: 37
GCID: GC17P016592

Coiled-Coil Domain Containing 144A

  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 144A1 2
Coiled-Coil Domain-Containing Protein 144A2
KIAA05653

External Ids:    HGNC: 290721   Entrez Gene: 97202   Ensembl: ENSG000001701607   UniProtKB: A2RUR93   

Export aliases for CCDC144A gene to outside databases

Previous GC identifers: GC17P016539 GC17P016460


(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 CCDC144A Gene:
CCDC144A (coiled-coil domain containing 144A) is a protein-coding gene. Diseases associated with CCDC144A include smith magenis syndrome. An important paralog of this gene is POTEF.


(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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Regulatory elements:
   Regulatory transcription factor binding sites in the CCDC144A gene promoter:
         Oct-B1   GR   oct-B3   oct-B2   GR-beta   POU2F2   POU2F1   POU2F1a   SEF-1 (1)   GR-alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CCDC144A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC144A


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

CCDC144A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC144A gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P016592:  view genomic region     (about GC identifiers)

Start:
16,592,851 bp from pter      End:
16,707,767 bp from pter
Size:
114,917 bases      Orientation:
plus strand

(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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: C144A_HUMAN, A2RUR9 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 144A  
Size: 1427 amino acids; 165125 Da
Sequence caution: Sequence=BAA25491.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAA25491.2; Type=Frameshift; Positions=1322; Sequence=BAC86369.1; Type=Frameshift; Positions=953;
Secondary accessions: O60311 Q6ZU57
Alternative splicing: 3 isoforms:  A2RUR9-1   A2RUR9-2   A2RUR9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC144A: NX_A2RUR9

Explore proteomics data for CCDC144A at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys955
  • Modification sites at PhosphoSitePlus

  • See CCDC144A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055510.1  
    ENSEMBL proteins: 
     ENSP00000344740   ENSP00000382215   ENSP00000353717   ENSP00000353685   ENSP00000398774  
     ENSP00000439262   ENSP00000394201  

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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:
     IPR021885 DUF3496

    Graphical View of Domain Structure for InterPro Entry A2RUR9

    ProtoNet protein and cluster: A2RUR9

    UniProtKB/Swiss-Prot: C144A_HUMAN, A2RUR9
    Similarity: Belongs to the CCDC144 family


    CCDC144A 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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    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC144A
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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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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    extracellular1
    mitochondrion1
    peroxisome1
    plasma membrane1

    (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 CCDC144A
    Interactions:

        Search GeneGlobe Interaction Network for CCDC144A

    (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 CCDC144A (C144A)



    (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,
    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 CCDC144A gene: 
    NM_014695.1  

    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000478303 ENST00000340621 ENST00000436374 ENST00000399273 ENST00000399264
    ENST00000360524(uc002gqk.1) ENST00000360495 ENST00000420937 ENST00000428950
    ENST00000328495 ENST00000463809 ENST00000470068(uc002gql.1) ENST00000443444
    ENST00000456009
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat CCDC144A

    1 AceView cDNA sequence:

    BU184471 

    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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    CCDC144A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CCDC144A Expression
    About this image

    CCDC144A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CCDC144A Protein Expression
        Custom PCR Arrays for CCDC144A
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC144A

    (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 CCDC144A gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    19(a)
    1 → many
    1(24064036-24111623)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    33(a)
    1 → many
    5(62007363-62048102)
    zebrafish
    (Danio rerio)
    Actinopterygii ANKRD76
    ankyrin repeat domain 7
    15(a)
    1 → many
    25(3581527-3655709) ENSDARG00000013015
            Species with no ortholog for CCDC144A

    ENSEMBL Gene Tree for CCDC144A (if available)
    TreeFam Gene Tree for CCDC144A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CCDC144A gene
    POTEF2  POTEI2  ANKRD30A2  POTEB22  ANKRD362  ANKRD72  POTEB2  ANKRD30BL2  
    ANKRD20A32  POTEH2  ANKRD30B2  LOC6442492  ENSG000002663022  ANKRD36C2  POTEJ2  POTEC2  
    ANKRD20A22  ANKRD262  POTEG2  ANKRD622  ANKRD18A2  POTEM2  ANKRD20A12  POTED2  
    POTEE2  ANKRD20A42  ANKRD18B2  LOC1002889662  
    11 SIMAP similar genes for CCDC144A using alignment to 6 protein entries:     C144A_HUMAN (see all proteins):
    CCDC144B    CCDC144NL    DKFZp781D1722    LOC254750    CCDC144CP    ANKRD36BP1
    LOC644249    ANKRD62    PRED4    ANKRD18B    ANKRD26

    CCDC144A for paralogs           About GeneDecksing


    Selected Pseudogenes.org Pseudogenes for CCDC144A (see all 56)
    PGOHUM00000238377 PGOHUM00000248296 PGOHUM00000248308 PGOHUM00000248537 PGOHUM00000247720


    (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 CCDC144A (see all 1036)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs20182581,2
    --16591675(-) GCACAT/ACTGCA 1 -- us2k12Minor allele frequency- A:0.00NA 4
    rs40345891,2
    --16591699(+) AATGT-/CA    
       TACGT
    GTGAC
    1 -- us2k10--------
    rs8752371,2
    C,F--16591742(+) CACTCA/GTAGGG 1 -- us2k17Minor allele frequency- G:0.18NA CSA 252
    rs20182661,2
    A--16591742(-) CCCCTA/GCGAGT 1 -- us2k11Minor allele frequency- G:0.00NA 2
    rs664938751,2
    C--16591799(+) TTCTG-/T/T   
      TTTTTT
    TTTTT
    1 -- us2k11NA 2
    rs20024991,2
    C--16591889(+) cctccA/Gcctcc 1 -- us2k12Minor allele frequency- G:0.33NA CSA 3
    rs1881460931,2
    --16591949(+) AGGCAC/TGTGCC 1 -- us2k10--------
    rs1462444651,2
    --16591956(+) TGCCAC/GCACGC 1 -- us2k10--------
    rs1926351671,2
    --16591959(+) CAGCAC/TGCCCA 1 -- us2k10--------
    rs1834030981,2
    --16592059(+) TGCCTC/TCCAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CCDC144A (16592851 - 16707767 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for CCDC144A:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv111702CNV Insertion16902084
    nsv9497CNV Loss18304495
    esv2635467CNV Loss19546169
    dgv3064n71CNV Gain21882294
    nsv833378CNV Gain17160897
    dgv3065n71CNV Gain21882294
    nsv442737CNV CNV18776908
    dgv928e1CNV Complex17122850
    dgv929e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
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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.)
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    1 disease for CCDC144A:    
    About MalaCards
    smith magenis syndrome


    CCDC144A for disorders           About GeneDecksing


    Export disorders for CCDC144A 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 CCDC144A gene integrated from 10 sources:
    (articles sorted by number of sources associating them with CCDC144A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2, 3 Nagase T....Ohara O. (DNA Res. 1998)
    2. Proteomic analysis of ubiquitinated proteins in normal hepatocyte cell line Chang liver cells. (PubMed id 18655026)1, 2 Tan F.... Peng X. (Proteomics 2008)
    3. Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. (PubMed id 11997339)1, 3 Park S.S....Lupski J.R. (Genome Res. 2002)
    4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (Nature 2006)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. 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. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 9720 HGNC: 29072 AceView: KIAA0565.1 Ensembl:ENSG00000170160 euGenes: HUgn9720
    ECgene: CCDC144A H-InvDB: CCDC144A

    (According to HUGE)
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    HUGE: KIAA0565

    (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 CCDC144A 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 CCDC144A gene:
    Search GeneIP for patents involving CCDC144A

    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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    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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