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Aliases for CCDC28A Gene

Aliases for CCDC28A Gene

  • Coiled-Coil Domain Containing 28A 2 3 5
  • C6orf80 3 4
  • CCRL1AP 3 4
  • Chemokine C-C Motif Receptor-Like 1 Adjacent 3
  • Coiled-Coil Domain-Containing Protein 28A 3
  • Chromosome 6 Open Reading Frame 80 2

External Ids for CCDC28A Gene

Previous HGNC Symbols for CCDC28A Gene

  • C6orf80

Previous GeneCards Identifiers for CCDC28A Gene

  • GC06P139137
  • GC06P139138
  • GC06P139094
  • GC06P136656

Summaries for CCDC28A Gene

Entrez Gene Summary for CCDC28A Gene

  • This gene encodes a coiled-coil domain containing protein. Although the specific function of this gene has not yet been determined, this gene is a known translocation partner of nucleoporin 98 in acute leukemias. The resulting fusion gene produces a nucleoporin 98-coiled-coil domain-containing protein 28A chimeric protein which may be involved in promoting myeloproliferative neoplasms. [provided by RefSeq, Jan 2017]

GeneCards Summary for CCDC28A Gene

CCDC28A (Coiled-Coil Domain Containing 28A) is a Protein Coding gene. An important paralog of this gene is CCDC28B.

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC28A Gene

Genomics for CCDC28A Gene

Regulatory Elements for CCDC28A Gene

Enhancers for CCDC28A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G138591 1.3 Ensembl ENCODE 12.3 -179.3 -179320 4.8 FOXA2 ARID4B DMAP1 ZNF48 SLC30A9 GATA2 FOS ZNF263 SP5 JUNB FLJ46906 NHSL1 CCDC28A PERP LOC100129577 ENSG00000274594
GH06G138590 0.8 ENCODE 12.3 -182.4 -182441 0.2 ARID4B RAD21 SLC30A9 ZNF143 RELB MIXL1 THAP11 ZNF263 ZNF654 ZEB2 FLJ46906 CCDC28A NHSL1 PERP LOC100129577 ENSG00000274594
GH06G138772 1.1 ENCODE 6.2 +0.2 199 2.1 PKNOX1 FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 ECT2L CCDC28A GVQW2
GH06G138802 0.8 ENCODE 5 +30.9 30896 4.3 ELF3 CBX3 RAD21 CBX5 SCRT2 ZNF143 FOS RCOR1 ZNF654 CBFB ECT2L REPS1 CCDC28A CCRL1P1
GH06G139027 1.3 FANTOM5 ENCODE 1.9 +255.6 255646 3.7 HDGF PKNOX1 ARNT WRNIP1 SIN3A ZNF2 YY1 ZNF263 SP3 JUNB ABRACL HECA CCDC28A GC06P139052
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC28A on UCSC Golden Path with GeneCards custom track

Promoters for CCDC28A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000203802 191 1801 PKNOX1 FOXA2 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143

Genomic Location for CCDC28A Gene

Chromosome:
6
Start:
138,773,509 bp from pter
End:
138,808,327 bp from pter
Size:
34,819 bases
Orientation:
Plus strand

Genomic View for CCDC28A Gene

Genes around CCDC28A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC28A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC28A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC28A Gene

Proteins for CCDC28A Gene

  • Protein details for CCDC28A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWP9-CC28A_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 28A
    Protein Accession:
    Q8IWP9
    Secondary Accessions:
    • E1P591
    • Q32NC7
    • Q66K67
    • Q96E23
    • Q9Y430

    Protein attributes for CCDC28A Gene

    Size:
    274 amino acids
    Molecular mass:
    30367 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CCDC28A Gene

Post-translational modifications for CCDC28A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC28A Gene

No data available for DME Specific Peptides for CCDC28A Gene

Domains & Families for CCDC28A Gene

Protein Domains for CCDC28A Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC28A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC28A: view

No data available for Gene Families and UniProtKB/Swiss-Prot for CCDC28A Gene

Function for CCDC28A Gene

Gene Ontology (GO) - Molecular Function for CCDC28A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CCDC28A: view
genes like me logo Genes that share phenotypes with CCDC28A: view

Animal Model Products

CRISPR Products

miRNA for CCDC28A Gene

miRTarBase miRNAs that target CCDC28A

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC28A Gene

Localization for CCDC28A Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC28A gene
Compartment Confidence
nucleus 3
mitochondrion 2
cytosol 2
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for CCDC28A Gene

Pathways & Interactions for CCDC28A Gene

SuperPathways for CCDC28A Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC28A Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC28A Gene

Drugs & Compounds for CCDC28A Gene

No Compound Related Data Available

Transcripts for CCDC28A Gene

mRNA/cDNA for CCDC28A Gene

Unigene Clusters for CCDC28A Gene

Coiled-coil domain containing 28A:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC28A Gene

No ASD Table

Relevant External Links for CCDC28A Gene

GeneLoc Exon Structure for
CCDC28A
ECgene alternative splicing isoforms for
CCDC28A

Expression for CCDC28A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC28A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CCDC28A Gene

This gene is overexpressed in Heart (20.2), Placenta (16.7), Testis (12.8), Pancreas (7.4), and Peripheral blood mononuclear cells (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC28A Gene



Protein tissue co-expression partners for CCDC28A Gene

NURSA nuclear receptor signaling pathways regulating expression of CCDC28A Gene:

CCDC28A

SOURCE GeneReport for Unigene cluster for CCDC28A Gene:

Hs.412019
genes like me logo Genes that share expression patterns with CCDC28A: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC28A Gene

Orthologs for CCDC28A Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC28A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC28A 34 35
  • 99.27 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC28A 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC28A 34 35
  • 88.08 (n)
cow
(Bos Taurus)
Mammalia CCDC28A 34 35
  • 86.33 (n)
mouse
(Mus musculus)
Mammalia Ccdc28a 34 16 35
  • 86.05 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc28a 34
  • 85.33 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC28A 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC28A 34 35
  • 77.47 (n)
lizard
(Anolis carolinensis)
Reptilia CCDC28A 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc28a 34
  • 72.83 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc28a 34 35
  • 60.89 (n)
wufe24b05 34
fruit fly
(Drosophila melanogaster)
Insecta CG10874 35
  • 18 (a)
OneToMany
Species where no ortholog for CCDC28A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC28A Gene

ENSEMBL:
Gene Tree for CCDC28A (if available)
TreeFam:
Gene Tree for CCDC28A (if available)

Paralogs for CCDC28A Gene

Paralogs for CCDC28A Gene

(1) SIMAP similar genes for CCDC28A Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CCDC28A: view

Variants for CCDC28A Gene

Sequence variations from dbSNP and Humsavar for CCDC28A Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000283009 -- 138,777,739(+) GTTTT(A/C)TCTTT intron-variant
rs1000366099 -- 138,790,131(+) ATTTC(C/T)TATCC intron-variant
rs1000374264 -- 138,791,428(+) GTATT(A/G)CTACA intron-variant
rs1000833812 -- 138,790,259(+) AATTC(C/T)CCTGC intron-variant
rs1001061347 -- 138,771,881(+) TCACA(-/G)GGTGT intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CCDC28A Gene

Variant ID Type Subtype PubMed ID
esv7585 OTHER inversion 19470904
nsv1114874 CNV deletion 24896259
nsv5500 CNV insertion 18451855

Variation tolerance for CCDC28A Gene

Residual Variation Intolerance Score: 61.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.89; 74.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC28A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC28A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC28A Gene

Disorders for CCDC28A Gene

UniProtKB/Swiss-Prot

CC28A_HUMAN
  • Note=A chromosomal aberration involving CCDC28A has been identified in acute leukemias. Translocation t(6;11)(q24.1;p15.5) with NUP98. The chimeric transcript is an in-frame fusion of NUP98 exon 13 to CCDC28A exon 2. Ectopic expression of NUP98-CCDC28A in mouse promotes the proliferative capacity and self-renewal potential of hematopoietic progenitors and rapidly induced fatal myeloproliferative neoplasms and defects in the differentiation of the erythro-megakaryocytic lineage. {ECO:0000269 PubMed:16028218}.

Relevant External Links for CCDC28A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC28A

No disorders were found for CCDC28A Gene.

No data available for MalaCards and Genatlas for CCDC28A Gene

Publications for CCDC28A Gene

  1. Functional analysis of the NUP98-CCDC28A fusion protein. (PMID: 22058212) Petit A. … Penard-Lacronique V. (Haematologica 2012) 3 4 64
  2. Characterization of 6q abnormalities in childhood acute myeloid leukemia and identification of a novel t(6;11)(q24.1;p15.5) resulting in a NUP98-C6orf80 fusion in a case of acute megakaryoblastic leukemia. (PMID: 16028218) Tosi S. … Harbott J. (Genes Chromosomes Cancer 2005) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64
  5. A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning. (PMID: 26673895) KA+rlA+ K. … GAPrlich D. (Elife 2015) 3 64

Products for CCDC28A Gene

Sources for CCDC28A Gene

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