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CCDC180 Gene

protein-coding   GIFtS: 35
GCID: GC09P100033

Coiled-Coil Domain Containing 180

(Previous names: KIAA1529, chromosome 9 open reading frame 174)
(Previous symbols: KIAA1529, C9orf174)
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(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 1801 2     Chromosome 9 Open Reading Frame 1741
C9orf1741 2 3     BDAG12
KIAA15291 2 3     Coiled-Coil Domain-Containing Protein 1802
Behcet'S Disease Associated Gene 11 2     

External Ids:    HGNC: 293031   Entrez Gene: 1004994832   Ensembl: ENSG000001978167   UniProtKB: Q9P1Z93   

Export aliases for CCDC180 gene to outside databases

Previous GC identifer: GC09P100028


(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 CCDC180 Gene:
CCDC180 (coiled-coil domain containing 180) 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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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CCDC180
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for CCDC180

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC180


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

Entrez Gene cytogenetic band: 9q22.33   Ensembl cytogenetic band:  9q22.33   HGNC cytogenetic band: 9q22.33

CCDC180 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC180 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09P100033:  view genomic region     (about GC identifiers)

Start:
100,000,765 bp from pter      End:
100,140,806 bp from pter
Size:
140,042 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CC180_HUMAN, Q9P1Z9 (See protein sequence)
Recommended Name: Coiled-coil domain-containing protein 180  
Size: 1646 amino acids; 191100 Da
Sequence caution: Sequence=BAA96053.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=CAH18175.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q2KHR6 Q5VV25 Q68DP5 Q69YV9 Q6AHY0
Alternative splicing: 4 isoforms:  Q9P1Z9-1   Q9P1Z9-2   Q9P1Z9-3   Q9P1Z9-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CCDC180: NX_Q9P1Z9

Explore proteomics data for CCDC180 at MOPED


See CCDC180 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_065944.2  
ENSEMBL proteins: 
 ENSP00000434727   ENSP00000349562   ENSP00000378646   ENSP00000364351   ENSP00000364348  
 ENSP00000414000  

CCDC180 Human Recombinant Protein Products:

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Search eBioscience for ELISAs for CCDC180 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:
 IPR027914 DUF4456
 IPR028089 DUF4455
 IPR026701 UPF_C9orf174

Graphical View of Domain Structure for InterPro Entry Q9P1Z9

ProtoNet protein and cluster: Q9P1Z9


Find genes that share domains with CCDC180           About GenesLikeMe


(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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Phenotypes:
     1 GenomeRNAi human phenotype for CCDC180:
 Increased gamma-H2AX phosphory 

Animal Models:
   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC180
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miRNA
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miRTarBase miRNAs that target CCDC180:
hsa-mir-335-5p (MIRT018848), hsa-mir-615-3p (MIRT039838), hsa-mir-1 (MIRT024033)

Block miRNA regulation of human, mouse, rat CCDC180 using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate CCDC180
SwitchGear 3'UTR luciferase reporter plasmidCCDC180 3' UTR sequence
Inhib. RNA
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Predesigned siRNA for gene silencing in human, mouse, rat CCDC180

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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 UniProtKB/Swiss-Prot
CC180_HUMAN, Q9P1Z9: Membrane; Single-pass membrane protein (Potential)

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--
GO:0070062extracellular vesicular exosome IDA19056867

Find genes that share ontologies with CCDC180           About GenesLikeMe


(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 CCDC180
Interactions:

    Search GeneGlobe Interaction Network for CCDC180

2 Interacting proteins for CCDC180 (Q9P1Z93) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
HIF1AQ166653I2D: score=1 
UVRAGQ9P2Y53I2D: score=1 
About this table

(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 CCDC180 (CC180)



(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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for CCDC180 gene: 
NM_020893.2  

Unigene Cluster for CCDC180:

Coiled-coil domain containing 180
Hs.435629  [show with all ESTs]
Unigene Representative Sequence: CR627453
18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000472746 ENST00000494917(uc004axf.3) ENST00000460482(uc011luv.1)
ENST00000529487 ENST00000528678 ENST00000530011 ENST00000471314 ENST00000527182
ENST00000483504 ENST00000526038 ENST00000534189 ENST00000530551 ENST00000487976
ENST00000357054 ENST00000395220(uc010msm.1) ENST00000375205 ENST00000375202(uc011lut.2 uc004axg.2 uc004axh.2)
ENST00000411667
miRNA
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Additional mRNA sequence: 

AK123391.1 AK301827.1 AK302965.1 AK303497.1 AL137557.1 BC047097.1 CR627453.1 CR749320.1 
NR_036526.1 NR_036527.1 NR_036528.1 NR_036529.1 

16 DOTS entries:

DT.311399  DT.101963863  DT.97833594  DT.91652181  DT.95250818  DT.70105168  DT.97838091  DT.106031 
DT.40113699  DT.92023757  DT.95148070  DT.65287512  DT.92451054  DT.95127021  DT.95360872  DT.75193901 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for CCDC180 (see all 7)    About this scheme

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1:                                                                                                                                                            
SP2:                                                                                                                                                            
SP3:                                                                                                                                                            
SP4:                                                                                                                                                            
SP5:                                                                                                                                                            

ExUns: 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b
SP1:                                                
SP2:                    -                           
SP3:        -                                       
SP4:                                                
SP5:                                                


ECgene alternative splicing isoforms for CCDC180

(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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CCDC180 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
CCDC180 Expression
About this image

CCDC180 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CCDC180 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.435629
    Custom PCR Arrays for CCDC180
Primer
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC180

(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 CCDC180 gene from Selected species (see all 12)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia E230008N13Rik1 RIKEN cDNA E230008N13 gene 75.65(n)
67.58(a)
  381522  NM_198660.2  NP_941062.2 
chicken
(Gallus gallus)
Aves C17H9ORF1741 chromosome 17 open reading frame, human C9orf174 53.6(n)
38.97(a)
  772014  XM_004945933.1  XP_004945990.1 
lizard
(Anolis carolinensis)
Reptilia CCDC1806
coiled-coil domain containing 180
44(a)
1 ↔ 1
GL344955.1(5783-14021)
tropical clawed frog
(Xenopus tropicalis)
Amphibia LOC1004925671 coiled-coil domain-containing protein 180-like 51.13(n)
38.81(a)
  100492567  XM_002941099.2  XP_002941145.2 
zebrafish
(Danio rerio)
Actinopterygii LOC1005380121 coiled-coil domain-containing protein 180-like 48.08(n)
35.7(a)
  100538012  XM_003198660.2  XP_003198708.2 


ENSEMBL Gene Tree for CCDC180 (if available)
TreeFam Gene Tree for CCDC180 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CCDC180 gene
2 SIMAP similar genes for CCDC180 using alignment to 4 protein entries:     CC180_HUMAN (see all proteins):
KIAA1529    NARF

Find genes that share paralogs with CCDC180           About GenesLikeMe


1 Pseudogenes.org Pseudogene for CCDC180
PGOHUM00000248865


(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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8 SNPs for CCDC180    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 9 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs612612781,2,4
----see VAR_0612502 mis40--------
rs23060931,2,4
----see VAR_0381572 mis40--------
rs123533061,2,4
----see VAR_0381542 mis40--------
rs109815581,2,4
----see VAR_0381532 mis40--------
rs37474951,2,4
----see VAR_0381562 mis40--------
rs78648051,2,4
----see VAR_0381512 mis40--------
rs20616341,2,4
----see VAR_0381552 mis40--------
rs178556711,2,4
----see VAR_0381522 mis40--------

HapMap Linkage Disequilibrium report for CCDC180 (100000765 - 100140806 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for CCDC180: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing CCDC180
DNA2.0 Custom Variant and Variant Library Synthesis for CCDC180

(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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  --

(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 CCDC180 gene, integrated from 10 sources (see all 11):
(articles sorted by number of sources associating them with CCDC180)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)1, 2, 3 Nagase T.... Ohara O. (DNA Res. 2000)
  2. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)1, 2 Bechtel S.... Schupp I. (BMC Genomics 2007)
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
  5. Large-scale proteomics and phosphoproteomics of urinary exosomes. (PubMed id 19056867)1 Gonzales P.A....Knepper M.A. (J. Am. Soc. Nephrol. 2009)
  6. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1 Vieira A.R....Marazita M.L. (Genet. Med. 2008)
  7. Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross- validation of MS/MS and MS/MS/MS spectra. (PubMed id 17924679)1 Yu L.R.... Veenstra T.D. (J. Proteome Res. 2007)
  8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
  9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
  10. 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: 100499483 HGNC: 29303 Ensembl:ENSG00000197816 euGenes: HUgn100499483 ECgene: CCDC180
H-InvDB: CCDC180

(According to HUGE)
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HUGE: KIAA1529

(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 CCDC180 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 CCDC180 gene:
Search GeneIP for patents involving CCDC180

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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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 , 21 Aug 2014 , 8 Sep 2014

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