Aliases for CCDC181 Gene

Aliases for CCDC181 Gene

  • Coiled-Coil Domain Containing 181 2 3 5
  • Coiled-Coil Domain-Containing Protein 181 3 4
  • C1orf114 3 4
  • Chromosome 1 Open Reading Frame 114 2

External Ids for CCDC181 Gene

Previous HGNC Symbols for CCDC181 Gene

  • C1orf114

Previous GeneCards Identifiers for CCDC181 Gene

  • GC01M169365

Summaries for CCDC181 Gene

GeneCards Summary for CCDC181 Gene

CCDC181 (Coiled-Coil Domain Containing 181) is a Protein Coding gene. Diseases associated with CCDC181 include Astrocytoma.

UniProtKB/Swiss-Prot Summary for CCDC181 Gene

  • Microtubule-binding protein that localizes to the microtubular manchette of elongating spermatids.

Additional gene information for CCDC181 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC181 Gene

Genomics for CCDC181 Gene

GeneHancer (GH) Regulatory Elements for CCDC181 Gene

Promoters and enhancers for CCDC181 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J169427 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 530.7 +33.5 33468 2 EP300 NRF1 MXI1 SMC3 ZBTB17 YY1 POLR2A ZBTB11 ZNF335 BMI1 CCDC181 NME7 piR-33998-001 lnc-SLC19A2-1
GH01J169459 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 500.7 +0.3 270 1.2 HDAC2 POLR2A KMT2B POLR2G ZBTB33 TAF1 AGO1 TBP RAD21 RBM39 CCDC181 lnc-SLC19A2-1 NME7 piR-33998-001
GH01J169362 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19.6 +94.6 94562 7.4 ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A MYC POLR2G SP1 NCOR1 GTF2E2 NME7 BLZF1 CCDC181 C1orf112 METTL18 piR-43676-003
GH01J169482 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 -24.5 -24531 6.4 EP300 FOXK2 ZBTB40 ZNF217 CTCF ZSCAN5C SIN3A NRF1 POLR2G USF1 ENSG00000213062 SLC19A2 SCYL3 RN7SL333P C1orf112 METTL18 NME7 CCDC181 piR-38611
GH01J169326 Enhancer 0.9 Ensembl ENCODE 13.3 +133.7 133745 1.4 NCOR1 ZNF316 ARNT TRIM24 FOS ZNF592 FOSL1 TAL1 IRF1 ZNF395 NME7 CCDC181 ATP1B1 ENSG00000237707 piR-58929-007 ENSG00000235575
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC181 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC181

Genomic Locations for CCDC181 Gene

Genomic Locations for CCDC181 Gene
chr1:169,394,870-169,460,669
(GRCh38/hg38)
Size:
65,800 bases
Orientation:
Minus strand
chr1:169,364,108-169,429,907
(GRCh37/hg19)
Size:
65,800 bases
Orientation:
Minus strand

Genomic View for CCDC181 Gene

Genes around CCDC181 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC181 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC181 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC181 Gene

Proteins for CCDC181 Gene

  • Protein details for CCDC181 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5TID7-CC181_HUMAN
    Recommended name:
    Coiled-coil domain-containing protein 181
    Protein Accession:
    Q5TID7
    Secondary Accessions:
    • O60780
    • Q53FD5
    • Q5TID9
    • Q8TC48

    Protein attributes for CCDC181 Gene

    Size:
    509 amino acids
    Molecular mass:
    60103 Da
    Quaternary structure:
    • Homodimer. Interacts with HOOK1. Interacts with HOOK2. Interacts with HOOK3.
    SequenceCaution:
    • Sequence=AAH26073.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC181 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC181 Gene

Post-translational modifications for CCDC181 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC181 Gene

Domains & Families for CCDC181 Gene

Gene Families for CCDC181 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for CCDC181 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q5TID7

UniProtKB/Swiss-Prot:

CC181_HUMAN :
  • Belongs to the CCDC181 family.
Family:
  • Belongs to the CCDC181 family.
genes like me logo Genes that share domains with CCDC181: view

No data available for Suggested Antigen Peptide Sequences for CCDC181 Gene

Function for CCDC181 Gene

Molecular function for CCDC181 Gene

UniProtKB/Swiss-Prot Function:
Microtubule-binding protein that localizes to the microtubular manchette of elongating spermatids.

Phenotypes From GWAS Catalog for CCDC181 Gene

Gene Ontology (GO) - Molecular Function for CCDC181 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008017 microtubule binding IBA,ISS --
genes like me logo Genes that share ontologies with CCDC181: view

Phenotypes for CCDC181 Gene

GenomeRNAi human phenotypes for CCDC181:
genes like me logo Genes that share phenotypes with CCDC181: view

Animal Model Products

CRISPR Products

miRNA for CCDC181 Gene

miRTarBase miRNAs that target CCDC181

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC181

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC181 Gene

Localization for CCDC181 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC181 Gene

Cytoplasm, cytoskeleton. Cell projection, cilium, flagellum. Note=Localizes to the microtubular manchette of elongating spermatids. Localizes to the sperm flagella and to the basal half of motile cilia. {ECO:0000250 UniProtKB:Q80ZU5}.

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 CCDC181 gene
Compartment Confidence
cytoskeleton 4
nucleus 3
cytosol 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC181 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002177 manchette ISS --
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IEA --
GO:0005929 cilium IEA --
genes like me logo Genes that share ontologies with CCDC181: view

Pathways & Interactions for CCDC181 Gene

PathCards logo

SuperPathways for CCDC181 Gene

No Data Available

Interacting Proteins for CCDC181 Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q5TID7-CC181_HUMAN ENSP00000356780 for CCDC181 Gene via MINT STRING IID

;

Gene Ontology (GO) - Biological Process for CCDC181 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for CCDC181 Gene

Drugs & Compounds for CCDC181 Gene

No Compound Related Data Available

Transcripts for CCDC181 Gene

mRNA/cDNA for CCDC181 Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC181

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC181 Gene

No ASD Table

Relevant External Links for CCDC181 Gene

GeneLoc Exon Structure for
CCDC181

Expression for CCDC181 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC181 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CCDC181 Gene

This gene is overexpressed in Testis (x5.9) and Pituitary (x5.3).

Protein differential expression in normal tissues from HIPED for CCDC181 Gene

This gene is overexpressed in CD8 Tcells (31.9), Testis (25.0), and Spinal cord (11.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CCDC181 Gene



Protein tissue co-expression partners for CCDC181 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC181

SOURCE GeneReport for Unigene cluster for CCDC181 Gene:

Hs.567557

Evidence on tissue expression from TISSUES for CCDC181 Gene

  • Lung(2.5)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with CCDC181: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC181 Gene

Orthologs for CCDC181 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CCDC181 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC181 30
  • 99.67 (n)
C1ORF114 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC181 31 30
  • 89.28 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC181 31 30
  • 88.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc181 17 31 30
  • 79.62 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc181 30
  • 79.16 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC181 31
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC181 31
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H1ORF114 30
  • 61.95 (n)
CCDC181 31
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC181 31
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:ch211-232d19.4 30
  • 52.17 (n)
CCDC181 31
  • 37 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 31 (a)
OneToOne
Species where no ortholog for CCDC181 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)
  • 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 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 CCDC181 Gene

ENSEMBL:
Gene Tree for CCDC181 (if available)
TreeFam:
Gene Tree for CCDC181 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC181: view image

Paralogs for CCDC181 Gene

Pseudogenes.org Pseudogenes for CCDC181 Gene

genes like me logo Genes that share paralogs with CCDC181: view

No data available for Paralogs for CCDC181 Gene

Variants for CCDC181 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC181 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs35107735 - p.Phe238Ile
rs35287513 - p.Ser323Cys
rs3820059 - p.Phe172Ser

Additional dbSNP identifiers (rs#s) for CCDC181 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC181 Gene

Variant ID Type Subtype PubMed ID
esv22143 CNV gain+loss 19812545
esv2663262 CNV deletion 23128226
nsv1001454 CNV gain 25217958
nsv1005941 CNV loss 25217958
nsv1078878 OTHER inversion 25765185
nsv831871 CNV loss 17160897

Variation tolerance for CCDC181 Gene

Residual Variation Intolerance Score: 62.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.12; 69.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC181 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC181

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC181 Gene

Disorders for CCDC181 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CCDC181 Gene - From: LncRNADisease

Disorder Aliases PubMed IDs
astrocytoma
  • astrocytic tumor
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for CCDC181

genes like me logo Genes that share disorders with CCDC181: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCDC181 Gene

Publications for CCDC181 Gene

  1. DNA methylation signatures for prediction of biochemical recurrence after radical prostatectomy of clinically localized prostate cancer. (PMID: 23918943) Haldrup C … Sørensen KD (Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2013) 3 54
  2. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  3. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PMID: 19536175) Ehret GB … Chakravarti A (European journal of human genetics : EJHG 2009) 3 54
  4. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 54
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 54

Products for CCDC181 Gene

Sources for CCDC181 Gene