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Aliases for CCDC181 Gene

Aliases for CCDC181 Gene

  • Coiled-Coil Domain Containing 181 2 3 5
  • C1orf114 3 4
  • Coiled-Coil Domain-Containing Protein 181 3
  • 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.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies 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 680.7 +33.2 33168 1 MXI1 ZNF223 SIN3A BMI1 ZNF335 CTBP1 ZNF366 POLR2A ZNF600 ZBTB20 CCDC181 NME7 LOC105371605
GH01J169459 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 650.7 +0.3 312 1.1 POLR2A ZNF143 BACH1 ZBTB33 RUNX3 CCDC181 NME7 LOC105371605
GH01J169362 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 19.6 +94.7 94680 7.2 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 NME7 BLZF1 C1orf112 METTL18 CCDC181 SCYL3 RN7SL333P ENSG00000235575
GH01J169482 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 10.8 -24.9 -24902 5.7 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 ZNF143 SP3 NFYC MEF2D ENSG00000213062 GC01P169486 SLC19A2 SCYL3 METTL18 RN7SL333P NME7 C1orf112 CCDC181 PIR61656
GH01J169101 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 5 +352.5 352467 14 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ATP1B1 METTL18 RN7SL333P C1orf112 SCYL3 LINC00970 NME7 CCDC181 RPL7AP21 XCL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CCDC181 on UCSC Golden Path with GeneCards custom track

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)

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; Positions=370; Evidence={ECO:0000305}; Sequence=CAI19784.1; Type=Erroneous gene model prediction; 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 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

Clone Products

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 4
cytosol 2

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:0036126 sperm flagellum ISS --
genes like me logo Genes that share ontologies with CCDC181: view

Pathways & Interactions for CCDC181 Gene

SuperPathways for CCDC181 Gene

No Data Available

Interacting Proteins for CCDC181 Gene

Selected Interacting proteins: Q5TID7-CC181_HUMAN for CCDC181 Gene via IID MINT

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

Unigene Clusters for CCDC181 Gene

Coiled-coil domain containing 181:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

Clone Products

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

No ASD Table

Relevant External Links for CCDC181 Gene

GeneLoc Exon Structure for
CCDC181
ECgene alternative splicing isoforms for
CCDC181

Expression for CCDC181 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of CCDC181 Gene:

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 33
  • 99.67 (n)
C1ORF114 34
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC181 34 33
  • 89.28 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC181 34 33
  • 88.19 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc181 16 34 33
  • 79.62 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc181 33
  • 79.16 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC181 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC181 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H1ORF114 33
  • 61.95 (n)
CCDC181 34
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC181 34
  • 47 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii si:ch211-232d19.4 33
  • 52.17 (n)
CCDC181 34
  • 37 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 from dbSNP and Humsavar for CCDC181 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs12091844 likely-benign, Thiamine-responsive megaloblastic anemia, Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness 169,464,035(-) C/T upstream_transcript_variant
rs745730912 uncertain-significance, Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness, Thiamine-responsive megaloblastic anemia 169,463,941(-) TATTTATTTA/TATTTA upstream_transcript_variant
rs1000065245 -- 169,431,081(-) G/T genic_upstream_transcript_variant, intron_variant
rs1000101747 -- 169,455,871(-) T/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000107271 -- 169,413,374(-) G/A intron_variant

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

Additional Disease Information for CCDC181

No disorders were found for CCDC181 Gene.

No data available for MalaCards , 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 58
  2. 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 58
  3. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 58
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58

Products for CCDC181 Gene

Sources for CCDC181 Gene

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