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Aliases for CCDC30 Gene

Aliases for CCDC30 Gene

  • Coiled-Coil Domain Containing 30 2 3 5
  • Prefoldin Subunit 6-Like Protein 3 4
  • PFDN6L 3 4
  • Coiled-Coil Domain-Containing Protein 30 3
  • Prefoldin 6-Like 2
  • PFD6L 3

External Ids for CCDC30 Gene

Previous GeneCards Identifiers for CCDC30 Gene

  • GC01P042778
  • GC01P042929
  • GC01P041120

Summaries for CCDC30 Gene

GeneCards Summary for CCDC30 Gene

CCDC30 (Coiled-Coil Domain Containing 30) is a Protein Coding gene.

Additional gene information for CCDC30 Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC30 Gene

Genomics for CCDC30 Gene

Regulatory Elements for CCDC30 Gene

Enhancers for CCDC30 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
GH01H042333 1.2 ENCODE 30.1 -127.9 -127853 4.5 MLX FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ZFP41 CCDC30 P3H1 FOXJ3 PPIH HNRNPFP1 MKRN8P CLDN19 GUCA2B RNU6-536P ENSG00000236180
GH01H042923 1.6 Ensembl ENCODE dbSUPER 11.1 +461.4 461435 3.9 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 FOXJ3 SZT2 HYI MKRN8P HNRNPFP1 PPIH P3H1 RNU6-880P CCDC30 ENSG00000228192
GH01H042454 1.1 ENCODE 15.1 -7.5 -7450 3.6 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF207 SP3 SP5 CCDC30 FOXJ3 PPIH PPCS PIR31959
GH01H042461 1 ENCODE 15.6 -0.3 -278 2.2 PKNOX1 ATF1 ARID4B SIN3A YY1 ELK1 ZNF143 ZNF207 RUNX3 SP3 CCDC30 ZMYND12
GH01H043388 1.4 ENCODE dbSUPER 11.1 +926.4 926407 2.8 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF143 FOS SP3 MED8 HYI CCDC24 CCDC30 HYI-AS1 LOC105378683 SZT2 ENSG00000229431
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC30 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC30 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000005483 82 1201 PKNOX1 ATF1 ARID4B SIN3A YY1 ELK1 ZNF143 ZNF207 RUNX3 SP3

Genomic Locations for CCDC30 Gene

Genomic Locations for CCDC30 Gene
chr1:42,463,318-42,654,664
(GRCh38/hg38)
Size:
191,347 bases
Orientation:
Plus strand
chr1:42,929,001-43,120,335
(GRCh37/hg19)

Genomic View for CCDC30 Gene

Genes around CCDC30 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC30 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC30 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC30 Gene

Proteins for CCDC30 Gene

  • Protein details for CCDC30 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VVM6-CCD30_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 30
    Protein Accession:
    Q5VVM6
    Secondary Accessions:
    • Q14F06
    • Q5VVM5

    Protein attributes for CCDC30 Gene

    Size:
    783 amino acids
    Molecular mass:
    91333 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CCDC30 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC30 Gene

Post-translational modifications for CCDC30 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC30 Gene

Domains & Families for CCDC30 Gene

Gene Families for CCDC30 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC30 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC30 Gene

Graphical View of Domain Structure for InterPro Entry

Q5VVM6

UniProtKB/Swiss-Prot:

CCD30_HUMAN :
  • Belongs to the prefoldin subunit beta family.
Family:
  • Belongs to the prefoldin subunit beta family.
genes like me logo Genes that share domains with CCDC30: view

Function for CCDC30 Gene

genes like me logo Genes that share phenotypes with CCDC30: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC30 Gene

Localization for CCDC30 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 CCDC30 gene
Compartment Confidence
extracellular 5
nucleus 3
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CCDC30 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with CCDC30: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for CCDC30 Gene

Pathways & Interactions for CCDC30 Gene

SuperPathways for CCDC30 Gene

No Data Available

Interacting Proteins for CCDC30 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000339280%0d%0a9606.ENSP00000403524%0d%0a
Selected Interacting proteins: Q5VVM6-CCD30_HUMAN ENSP00000339280 for CCDC30 Gene via IID STRING

Gene Ontology (GO) - Biological Process for CCDC30 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC30 Gene

Drugs & Compounds for CCDC30 Gene

No Compound Related Data Available

Transcripts for CCDC30 Gene

mRNA/cDNA for CCDC30 Gene

(8) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CCDC30 Gene

Coiled-coil domain containing 30:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC30 Gene

No ASD Table

Relevant External Links for CCDC30 Gene

GeneLoc Exon Structure for
CCDC30
ECgene alternative splicing isoforms for
CCDC30

Expression for CCDC30 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC30 Gene

Protein differential expression in normal tissues from HIPED for CCDC30 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (56.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CCDC30 Gene



Protein tissue co-expression partners for CCDC30 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CCDC30 Gene:

CCDC30

SOURCE GeneReport for Unigene cluster for CCDC30 Gene:

Hs.729640

mRNA Expression by UniProt/SwissProt for CCDC30 Gene:

Q5VVM6-CCD30_HUMAN
Tissue specificity: Expressed in brain, kidney, pancreas, placenta, liver, thymus and prostate.

Evidence on tissue expression from TISSUES for CCDC30 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with CCDC30: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC30 Gene

Orthologs for CCDC30 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC30 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC30 33 34
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia CCDC30 33 34
  • 82.33 (n)
dog
(Canis familiaris)
Mammalia CCDC30 34
  • 69 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc30 34
  • 54 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC30 34
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC30 34
  • 28 (a)
OneToOne
chicken
(Gallus gallus)
Aves CCDC30 33 34
  • 56.42 (n)
zebrafish
(Danio rerio)
Actinopterygii CCDC30 34
  • 16 (a)
OneToOne
Species where no ortholog for CCDC30 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • 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)
  • rat (Rattus norvegicus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CCDC30 Gene

ENSEMBL:
Gene Tree for CCDC30 (if available)
TreeFam:
Gene Tree for CCDC30 (if available)

Paralogs for CCDC30 Gene

(1) SIMAP similar genes for CCDC30 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with CCDC30: view

No data available for Paralogs for CCDC30 Gene

Variants for CCDC30 Gene

Sequence variations from dbSNP and Humsavar for CCDC30 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000087683 -- 42,527,089(+) AGGAA(A/G)GTAAC intron-variant, upstream-variant-2KB
rs1000142128 -- 42,550,729(+) TTTGT(A/G)TGTTT intron-variant
rs1000144769 -- 42,615,411(+) TCCTG(C/G)CTCAG intron-variant
rs1000154209 -- 42,620,181(+) AGGAG(A/C)TAAAT intron-variant
rs1000162877 -- 42,639,861(+) CTTGG(A/G)AGGCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CCDC30 Gene

Variant ID Type Subtype PubMed ID
nsv829682 CNV loss 17160897
nsv822453 CNV loss 20364138
nsv1133846 CNV deletion 24896259
nsv1122335 CNV deletion 24896259
nsv1075478 CNV deletion 25765185
esv3585850 CNV gain 21293372
esv3577249 CNV gain 25503493
esv3561338 CNV deletion 23714750
esv2747541 CNV deletion 23290073
esv2520511 CNV deletion 19546169
esv2480910 CNV insertion 19546169
esv1025473 CNV insertion 17803354
dgv29e212 CNV loss 25503493

Variation tolerance for CCDC30 Gene

Residual Variation Intolerance Score: 51.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.67; 57.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CCDC30 Gene

Human Gene Mutation Database (HGMD)
CCDC30
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC30

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC30 Gene

Disorders for CCDC30 Gene

Relevant External Links for CCDC30

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CCDC30

No disorders were found for CCDC30 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC30 Gene

Publications for CCDC30 Gene

  1. Cloning and characterization of a novel human prefoldin and SPEC domain protein gene (PFD6L) from the fetal brain. (PMID: 16710767) Zhang J … Mao Y (Biochemical genetics 2006) 2 3 4 60
  2. Interactome of the negative regulator of nuclear import BRCA1-binding protein 2. (PMID: 25820252) Fatima S … Jans DA (Scientific reports 2015) 3 60
  3. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3 60
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 60

Products for CCDC30 Gene

Sources for CCDC30 Gene

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