CCDC130 Gene
protein-coding GIFtS: 46
GCID: GC19P013860
|
|
coiled-coil domain containing 130
| |
Aliases for CCDC130 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Coiled-Coil Domain Containing 1301 2 | | 9 KDa Protein2 3 | | MGC104711 | | Coiled-Coil Domain-Containing Protein 1302 |
Export aliases for CCDC130 gene to outside databasesPrevious GC identifers: GC19P013703 GC19P013430 |
Summaries for CCDC130 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| -- |
Genomic Views for CCDC130 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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011295.11
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the CCDC130 gene promoter: RP58 Tal-1 AML1a c-Ets-1 E47 POU2F1 c-Myb TGIF Other transcription factors
Search SABiosciences Chromatin IP Primers for CCDC130
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC130 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19p13.2 Ensembl cytogenetic band: 19p13.2 HGNC cytogenetic band: 19p13.13CCDC130 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P013860: view genomic region
(about GC identifiers)
Start:
|
13,842,574 bp from pter |
End:
|
13,874,110 bp from pter |
Size:
|
31,537 bases |
Orientation:
|
plus strand |
|
Proteins for CCDC130 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: CC130_HUMAN, P13994 (See
protein sequence)Recommended Name: Coiled-coil domain-containing protein 130 Size: 396 amino acids; 44802 Da
Sequence caution: Sequence=CAA32138.1; Type=Erroneous gene model prediction; Sequence=CAA32138.1; Type=Frameshift;Positions=Several;
Secondary accessions: Q9BQ72Explore the universe of human proteins at neXtProt for CCDC130: NX_P13994
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P13994 CCDC130 Protein expression data from MOPED and PaxDb: About this image 
 REFSEQ proteins: NP_110445.1 ENSEMBL proteins: ENSP00000465776 ENSP00000221554 ENSP00000466095 ENSP00000465392 ENSP00000467202 ENSP00000468544 ENSP00000467303 Human Recombinant Protein Products for CCDC130:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005575 | cellular_component |
ND | -- |
CCDC130 for ontologies About GeneDecksing
CCDC130 Antibody Products: Assay Products for CCDC130: |
Protein
Domains / Families for CCDC130 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CCDC130 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry P13994ProtoNet protein and cluster: P13994 UniProtKB/Swiss-Prot: CC130_HUMAN, P13994Similarity: Belongs to the CWC16 family |
Function for CCDC130 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
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,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Molecular Function: UniProtKB/Swiss-Prot Summary: CC130_HUMAN, P13994Induction: By poly(RI), poly(RC) and Newcastle disease virus Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table
CCDC130 for ontologies About GeneDecksing
Phenotypes: 4 GenomeRNAi human phenotypes for CCDC130: Animal Models:
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC130 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC130 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CCDC130 (NM_030818) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CCDC130 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC130  |
In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC130 |
|
Pathways & Interactions for CCDC130 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCDC130
STRING Interaction
Network Preview (showing 5 interactants - click image to see 13)
 5/22 Interacting proteins for CCDC130 (P139941, 2, 3 ENSP000002215544) via UniProtKB, MINT, STRING, and/or I2D (see all 22)About this table
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table
CCDC130 for ontologies About GeneDecksing
|
Drugs & Compounds for CCDC130 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
Browse Tocris compounds for CCDC130 Search CenterWatch for drugs/clinical trials and news about CCDC130 / CC130 
|
Transcripts for CCDC130 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for CCDC130 gene: NM_030818.2 Unigene Cluster for CCDC130: Coiled-coil domain containing 130 Hs.24998 [show with all ESTs]Unigene Representative Sequence: BC00290512 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000540216(uc010xnf.2) ENST00000586600 ENST00000587098 ENST00000588071 ENST00000221554(uc002mxc.1) ENST00000593174 ENST00000586666 ENST00000588809 ENST00000589096 ENST00000587019 ENST00000585844 ENST00000589669
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC130 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC130 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: CCDC130 (NM_030818) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CCDC130 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC130  |
Additional cDNA sequence: AF250306.1 AK098262.1 AK293927.1 BC002905.2 X13956.1 14 DOTS entries: DT.100031571 DT.100792066 DT.95147616 DT.100792068 DT.100022256 DT.100792062 DT.91762739 DT.121441011 DT.121441018 DT.91762742 DT.121441030 DT.40245881 DT.91762734 DT.100000936 24/304 AceView cDNA sequences (see all 304): CR594316 BU196379 AK098262 BQ687710 BQ878707 BQ884054 BQ931904 CR598416 AF250306 AW473409 BQ691837 BU180122 BQ689268 CR620805 BQ691567 BM753813 BU185779 BQ685357 BI820752 BU157502 BM796488 BM834654 BQ878968 BM663516 GeneLoc Exon Structure
|
Expression for CCDC130 gene
(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
| CCDC130 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: TCCCCCGGAG
 About this image See CCDC130 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for CCDC130
SOURCE GeneReport for Unigene cluster: Hs.24998 SABiosciences Custom PCR Arrays for CCDC130
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCDC130 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CCDC130 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC130 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC130 | In Situ Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC130 |
Orthologs for CCDC130 gene
(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 eukaryotes.
Orthologs for CCDC130 gene from 8/30 species (see all 30) About this table
| Organism |
Taxonomic classification |
Gene |
Description |
Human Similarity |
Orthology Type |
Details |
mouse (Mus musculus) |
Mammalia |
Ccdc1301 , 5 |
coiled-coil domain containing 1301, 5 |
78.91(n)1 80.73(a)1 |
  |
8 (40.77 cM)5 677361 NM_026350.21 NP_080626.11 842577955 |
lizard (Anolis carolinensis) |
Reptilia |
CCDC1306 |
-- |
64(a) |
1 ↔ 1 |
2(29029470-29039723) |
African clawed frog (Xenopus laevis) |
Amphibia |
Xl.36732 |
Xenopus laevis transcribed sequence with moderate similarity more |
78.31(n) |
  |
CB200960.2 |
zebrafish (Danio rerio) |
Actinopterygii |
Dr.189932 |
Danio rerio hypothetical protein MGC10471-like protein more |
81.07(n) |
  |
AY391438.1 |
fruit fly (Drosophila melanogaster) |
Insecta |
CG150841 |
CG15084 |
58.7(n) 53.58(a) |
  |
37178 NM_137539.3 NP_611383.1 |
worm (Caenorhabditis elegans) |
Secernentea |
CELE_ZK1307.91 |
Protein ZK1307.9 |
47.81(n) 45.57(a) |
  |
174518 NM_063676.2 NP_496077.1 |
thale cress (Arabidopsis thaliana) |
eudicotyledons |
AT1G256821 |
coiled-coil domain-containing protein 130 |
51.63(n) 46.99(a) |
  |
839146 NM_102370.3 NP_173930.1 |
rice (Oryza sativa) |
Liliopsida |
Os.108892 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
73.9(n) |
  |
AK068494.1 |
ENSEMBL Gene Tree for CCDC130 (if available) TreeFam Gene Tree for CCDC130 (if available)  |
Paralogs for CCDC130 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for CCDC130 gene
- CCDC942
CCDC130 for paralogs About GeneDecksing
|
Genomic Variants for CCDC130 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 19 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
HapMap Linkage Disequilibrium report for CCDC130 (13842574 - 13874110 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for CCDC130 2 CNVs: 5088 47866  | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CCDC130 |
|
Disorders
/ Diseases for CCDC130 gene
(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.)
About This Section
|
CCDC130 for disorders About GeneDecksing
5 diseases for CCDC130: About MalaCardstrench fever phlebotomus fever dysentery newcastle disease malaria 2 diseases from the University of Copenhagen DISEASES database for CCDC130:Trench fever Phlebotomus fever Export disorders for CCDC130 gene to outside databases
|
Publications for CCDC130 gene (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 CCDC130 gene integrated from 9 sources: (articles sorted by number of sources associating them with CCDC130) | |  | Utopia: connect your pdf to the dynamic world of online information |
- Alternative mechanisms for gene activation induced by poly(rI).poly(rC) and Newcastle disease virus. (PubMed id 3203696)1, 2, 3 Lammers R.... Collins J. (1988)
- 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. (2004)
- System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)2 Rigbolt K.T....Blagoev B. (2011)
- hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
- Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1 Olsen J.V....Mann M. (2006)
- A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)
- Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
- 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. (2002)
- Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
|
External Searches for CCDC130 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing CCDC130 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CCDC130 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CCDC130 gene(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
|
| Name | Description |
| PharmGKB entry for CCDC130 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CCDC130 gene: Search GeneIP for patents involving CCDC130
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for CCDC130 gene(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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory) About This Section
|
 | |
 | |
 |
| | | | Browse OriGene Antibodies | | OriGene shRNA RFP for CCDC130 | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CCDC130 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CCDC130 | | OriGene Protein Over-expression Lysate for CCDC130 | | Browse OriGene Fluorogenic Cell Assay Kits | | OriGene siRNA for CCDC130 | | OriGene 3'-UTR Clone for CCDC130 | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC130 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CCDC130 | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | OriGene Purified Protein for CCDC130 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | OriGene Custom Antibody Services for CCDC130 | | OriGene Custom Protein Services for CCDC130 | | OriGene Custom Immunoassay Development | | |
| |  |
 |
| | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CCDC130 | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CCDC130 | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CCDC130 | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CCDC130 | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CCDC130 | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CCDC130 |
| |
 |  |  |  | |
| | | Search Tocris compounds for CCDC130 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | CCDC130 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC130 |
|  |  |  |  | | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC130 |
| |  | |
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