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CCDC144NL Gene

protein-coding   GIFtS: 35
GCID: GC17M020740

Coiled-Coil Domain Containing 144 Family, N-Terminal Like

  Search for CCDC144NL
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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Coiled-Coil Domain Containing 144 Family, N-Terminal Like1 2
Putative Coiled-Coil Domain-Containing Protein 144 N-Terminal-Like2

External Ids:    HGNC: 337351   Entrez Gene: 3391842   Ensembl: ENSG000002052127   UniProtKB: Q6NUI13   
ORGUL members:         

Export aliases for CCDC144NL gene to outside databases

Previous GC identifers: GC17M020711 GC17M020766 GC17M019968


(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 CCDC144NL Gene:
CCDC144NL (coiled-coil domain containing 144 family, N-terminal like) is a protein-coding gene.


(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 CCDC144NL gene promoter:
         GR   GR-beta   POU3F2 (N-Oct-5a)   POU3F2 (N-Oct-5b)   POU3F2   HOXA5   FOXJ2 (long isoform)   SEF-1 (1)   FOXJ2   GR-alpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CCDC144NL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC144NL


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

CCDC144NL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC144NL gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M020740:  view genomic region     (about GC identifiers)

Start:
20,739,760 bp from pter      End:
20,799,453 bp from pter
Size:
59,694 bases      Orientation:
minus 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: C144L_HUMAN, Q6NUI1 (See protein sequence)
Recommended Name: Putative coiled-coil domain-containing protein 144 N-terminal-like  
Size: 221 amino acids; 23810 Da
Caution: Could be the product of a pseudogene. Shares high sequence similarity with the N-terminus of the CCDC144
family. Compared to other members of the family, it is however much shorter and lacks the C-terminal part

Explore the universe of human proteins at neXtProt for CCDC144NL: NX_Q6NUI1

Explore proteomics data for CCDC144NL at MOPED


See CCDC144NL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001004306.1  
ENSEMBL proteins: 
 ENSP00000328054  

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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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ProtoNet protein and cluster: Q6NUI1

UniProtKB/Swiss-Prot: C144L_HUMAN, Q6NUI1
Similarity: Belongs to the CCDC144 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,
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 CCDC144NL:
 Big cells 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC144NL
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miRNA
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miRTarBase miRNAs that target CCDC144NL:
hsa-mir-425-5p (MIRT039314)

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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
nucleus2
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 CCDC144NL
Interactions:

    Search GeneGlobe Interaction Network for CCDC144NL

(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 CCDC144NL (C144L)



(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 CCDC144NL gene: 
NM_001004306.1  

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000539484 ENST00000327925(uc002gyf.3) ENST00000539177
miRNA
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5 AceView cDNA sequences:

BG772635 NM_001004306 BC068597 AW504417 BU159474 

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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CCDC144NL expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TCTCCTAGCT
CCDC144NL Expression
About this image

CCDC144NL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CCDC144NL Protein Expression
    Custom PCR Arrays for CCDC144NL
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC144NL

(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 human and chimp.

Orthologs for CCDC144NL gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC144NL1 putative coiled-coil domain-containing protein 144 more 97.44(n)
95.93(a)
  468188  XM_523579.4  XP_523579.2 


ENSEMBL Gene Tree for CCDC144NL (if available)
TreeFam Gene Tree for CCDC144NL (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CCDC144NL gene
2 SIMAP similar genes for CCDC144NL using alignment to 1 protein entry:     C144L_HUMAN:
CCDC144A    CCDC144B

CCDC144NL for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for CCDC144NL
PGOHUM00000236991


(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 CCDC144NL (see all 1719)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 17 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs65870941,2
C,F,A,H--20766280(+) TCTTGG/ACCTAG 1 -- int121Minor allele frequency- A:0.25NS EA NA WA 2758
rs1389292981,2
C--20766356(+) AAAGGC/TATTTT 1 -- int10--------
rs1890786991,2
--20766373(+) TTAACA/GATTTT 1 -- int10--------
rs2014319841,2
C--20766736(+) ATCTC-/CTATTTA 1 -- ut310--------
rs1816024231,2
--20766759(+) ACAAAA/GGAAAA 1 -- ut310--------
rs1856729361,2
--20766924(+) GGTCAA/CGTGGG 1 -- ut310--------
rs98915751,2
C,F--20767003(+) AATTTA/TAAGTG 1 -- ut312Minor allele frequency- T:0.04CSA WA 120
rs1491329201,2
--20767046(+) AATAAC/TGTACC 1 -- ut310--------
rs1432233581,2
C--20767126(+) CATGGC/GTAACT 1 -- ut310--------
rs1901309701,2
--20767130(+) GCTAAC/GTCCAC 1 -- ut310--------

HapMap Linkage Disequilibrium report for CCDC144NL (20739760 - 20799453 bp)

Structural Variations
     Database of Genomic Variants (DGV) 6 variations for CCDC144NL:    About this table    
Variant IDTypeSubtypePubMed ID
esv2715747CNV Deletion23290073
esv2673401CNV Deletion23128226
esv2715745CNV Deletion23290073
esv2715748CNV Deletion23290073
esv24431CNV Loss19812545
esv2751619CNV Gain17911159

Human Gene Mutation Database (HGMD): CCDC144NL
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CCDC144NL
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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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CCDC144NL for disorders           About GeneDecksing


Export disorders for CCDC144NL 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 CCDC144NL gene integrated from 10 sources:
(articles sorted by number of sources associating them with CCDC144NL)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Genome-wide association study identifies loci affecting blood copper, selenium and zinc. (PubMed id 23720494)1 Evans D.M....Whitfield J.B. (Hum. Mol. Genet. 2013)
  2. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
  3. 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)
  4. 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: 339184 HGNC: 33735 AceView: MGC87631 Ensembl:ENSG00000205212 euGenes: HUgn339184
ECgene: CCDC144NL H-InvDB: CCDC144NL

(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 CCDC144NL 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 CCDC144NL gene:
Search GeneIP for patents involving CCDC144NL

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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