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CCDC43 Gene

protein-coding GIFtS: 44
GCID: GC17M042754

Coiled-Coil Domain Containing 43

See related diseases
at

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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 43¹ ²
Coiled-Coil Domain-Containing Protein 43²

External Ids:	HGNC: 26472¹	Entrez Gene: 124808²	Ensembl: ENSG00000180329⁷	UniProtKB: Q96MW1³

Export aliases for CCDC43 gene to outside databases

Previous GC identifers: GC17M040112 GC17M038519

(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 CCDC43 Gene:

CCDC43 (coiled-coil domain containing 43) is a protein-coding gene. Diseases associated with CCDC43 include malaria, and hiv-1.

(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_000017.11 NC_018928.2 NT_010783.16

Regulatory elements:

Regulatory transcription factor binding sites in the CCDC43 gene promoter:
HOXA9B HOXA9 p300 HSF1 (long) E47 Meis-1b FOXL1 HSF1short TGIF Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CCDC43 promoter sequence

Search Chromatin IP Primers for CCDC43

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCDC43

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

Entrez Gene cytogenetic band: 17q21.31 Ensembl cytogenetic band: 17q21.31 HGNC cytogenetic band: 17q21.31

CCDC43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCDC43 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M042754: view genomic region (about GC identifiers)

Start:	42,750,437 bp from pter	End:	42,767,165 bp from pter
Size:	16,729 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: CCD43_HUMAN, Q96MW1 (See protein sequence)

Recommended Name: Coiled-coil domain-containing protein 43

Size: 224 amino acids; 25248 Da

Secondary accessions: C9JVK9

Alternative splicing: 2 isoforms: Q96MW1-1 Q96MW1-2

Explore the universe of human proteins at neXtProt for CCDC43: NX_Q96MW1

Explore proteomics data for CCDC43 at MOPED

Post-translational modifications:

Ubiquitination² at Lys162

Modification sites at PhosphoSitePlus

See CCDC43 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts):

NP_001092695.1 NP_653210.2

ENSEMBL proteins:

ENSP00000468079 ENSP00000400845 ENSP00000323782 ENSP00000467630

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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: Q96MW1

UniProtKB/Swiss-Prot: CCD43_HUMAN, Q96MW1

Similarity: Belongs to the CCDC43 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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Animal Models:

inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CCDC43

inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CCDC43

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC43

(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:

Compartment	Confidence
cytosol	2
nucleus	2
extracellular	1
mitochondrion	1

About this image

(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 CCDC43
Interactions:

Search GeneGlobe Interaction Network for CCDC43

STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

3 Interacting proteins for CCDC43 (Q96MW1³ ENSP00000323782⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SCN10A	Q9Y5Y9³	I2D: score=1
TINF2	ENSP00000267415⁴	STRING: ENSP00000267415
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

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(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 CCDC43 (CCD43)

(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 CCDC43 gene (2 alternative transcripts):

NM_001099225.1 NM_144609.2

Unigene Cluster for CCDC43:

Coiled-coil domain containing 43

Hs.579115 [show with all ESTs]

Unigene Representative Sequence: NM_144609

5 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000588687 ENST00000457422(uc010czw.1) ENST00000315286(uc021tye.1 uc002ihc.2)

ENST00000588210 ENST00000592333

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		hsa-miR-30c hsa-miR-30d hsa-miR-548m hsa-miR-30a hsa-miR-9 hsa-miR-199b-5p hsa-miR-591 hsa-miR-450b-5p

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Additional mRNA sequence:

AK056357.1 AK098464.1 AL833590.1 BC023298.1 BC047776.2 BX648868.1

5 DOTS entries:

DT.443157 DT.100813441 DT.426362 DT.99999565 DT.95267955

Selected AceView cDNA sequences (see all 137):

CK822286 BU679979 BE646201 BM352137 BC023298 BQ002285 AW074675 BM351826

W58250 NM_144609 BU685607 BC047776 BE504863 BF059575 BE408705 BM843452

AI687141 BX648868 AA356665 BQ051161 CF129680 BM474362 BQ945564 AW438632

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for CCDC43 About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4a	·	4b	^	5a	·	5b
SP1:									-		-
SP2:									-
SP3:

ECgene alternative splicing isoforms for CCDC43

(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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CCDC43 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: TTACCTCTTC

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CCDC43 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

CCDC43 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.579115

Custom PCR Arrays for CCDC43

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCDC43

(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 animals.

Orthologs for CCDC43 gene from Selected species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ccdc43^{1 , 5}	coiled-coil domain containing 43^{1, 5}	85.74(n)¹ 89.19(a)¹		11 (66.48 cM)⁵ 52715¹ NM_025918.3¹ NP_080194.1¹ 102684686⁵
chicken (Gallus gallus)	Aves	CCDC43¹	coiled-coil domain containing 43	73.77(n) 73.15(a)		419971 NM_001007884.1 NP_001007885.1
lizard (Anolis carolinensis)	Reptilia	CCDC43⁶	coiled-coil domain containing 43	66(a)	1 ↔ 1	6(63721374-63726111)
African clawed frog (Xenopus laevis)	Amphibia	BJ066912.1²	--	75.72(n)		BJ066912.1
zebrafish (Danio rerio)	Actinopterygii	BC057502.1²	--	77.94(n)		393631 BC057502.1
fruit fly (Drosophila melanogaster)	Insecta	CG9586¹	CG9586	43.76(n) 36.41(a)		34241 NM_001273350.1 NP_001260279.1

ENSEMBL Gene Tree for CCDC43 (if available)
TreeFam Gene Tree for CCDC43 (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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SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs141182613^1,2		--	42754416(+)	`GGGACC/TGTGGA`	2	--	ds500¹		0	--	--	--	--
rs10707920^1,2	C	--	42754554(+)	`TAATA-/GTAAGG`	2	--	ds500¹		1		CSA	2
rs144846081^1,2		--	42754581(+)	`CCTGAC/TGTTCC`	2	--	ds500¹		0	--	--	--	--
rs182986188^1,2		--	42754599(+)	`ATGCTA/CATCTT`	2	--	ds500¹		0	--	--	--	--
rs12450654^1,2	C,F,A,H	--	42754777(+)	`GGGTAC/TGTAGA`	2	--	ds500¹		31		NA NS EA	3114
rs188457777^1,2		--	42754868(+)	`CCACAC/GTTATA`	2	--	ut3¹		0	--	--	--	--
rs149480720^1,2	C	--	42754916(+)	`ACCAT-/GTTTTT`	2	--	ut3¹		0	--	--	--	--
rs192841336^1,2		--	42755161(+)	`CCCTGA/GTATAA`	2	--	ut3¹		0	--	--	--	--
rs151292019^1,2		--	42755177(+)	`CTACTC/TTGTCT`	2	--	ut3¹		0	--	--	--	--
rs184796181^1,2		--	42755399(+)	`TAGCAG/TAAATT`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CCDC43 (42750437 - 42767165 bp)

Structural Variations
Database of Genomic Variants (DGV) 4 variations for CCDC43: About this table

Variant ID	Type	Subtype	PubMed ID
nsv908287	CNV	Loss	21882294
nsv112452	CNV	Loss	16902084
nsv908286	CNV	Loss	21882294
nsv833456	CNV	Gain+Loss	17160897

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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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2 diseases for CCDC43:
About MalaCards

malaria hiv-1

CCDC43 for disorders About GeneDecksing

Export disorders for CCDC43 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 CCDC43 gene, integrated from 10 sources (see all 16):
(articles sorted by number of sources associating them with CCDC43)

Utopia: connect your pdf to the dynamic
world of online information

Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
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)
Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)¹ Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)¹ Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
A catalogue of putative HIV-1 protease host cell substrates. (PubMed id 22944692)¹ Impens F....Gevaert K. (Biol. Chem. 2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
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)
System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (Sci. Signal. 2011)
Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (amp 2011)
Genome-wide YFP fluorescence complementation screen identifies new regulators for telomere signaling in human cells. (PubMed id 21044950)¹ Lee O.H....Songyang Z. (amp 2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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: 124808	HGNC: 26472	AceView: FLJ31795	Ensembl:ENSG00000180329	euGenes: HUgn124808
ECgene: CCDC43	H-InvDB: CCDC43

(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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Name	Description
PharmGKB entry for CCDC43	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CCDC43 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CCDC43 gene:
Search GeneIP for patents involving CCDC43

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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	Custom PCR Arrays for CCDC43		Search Chromatin IP Primers for CCDC43
	Pre-validated RT² qPCR Primer Assay in human, mouse, rat CCDC43		Search GeneGlobe Interaction Network for CCDC43
	Regulatory tfbs in CCDC43 promoter

	GenScript Custom Purified and Recombinant Proteins Services for CCDC43		GenScript cDNA clones with any tag delivered in your preferred vector for CCDC43
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	CloneReady with Over 120,000 Genes		Gene Synthesis: Any Gene in Any Vector
	Vector-based siRNA and miRNA, Ready for Transfection		Gene Mutant Library, Variants up to 10^11
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCDC43

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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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The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes CCDC43 gene at Home site.

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CCDC43 Gene

Coiled-Coil Domain Containing 43

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Export list of displayed genes

CCDC43 Gene

Coiled-Coil Domain Containing 43

Aliasesfor CCDC43 gene

Summariesfor CCDC43 gene

Genomic Viewsfor CCDC43 gene

Proteinsfor CCDC43 gene

CCDC43 Human Recombinant Protein Products:

CCDC43 Antibody Products:

CCDC43 Assay Products:

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Localizationfor CCDC43 gene

Pathways & Interactionsfor CCDC43 gene

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for CCDC43 gene

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for CCDC43 gene

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for CCDC43 gene

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for CCDC43 gene

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for CCDC43 gene

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for CCDC43 gene

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for CCDC43 gene

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for CCDC43 gene

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for CCDC43 gene

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for CCDC43 gene

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for CCDC43 gene