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Aliases for C1orf216 Gene

Aliases for C1orf216 Gene

  • Chromosome 1 Open Reading Frame 216 2 3 5

External Ids for C1orf216 Gene

Previous GeneCards Identifiers for C1orf216 Gene

  • GC01M035953
  • GC01M036179
  • GC01M034297

Summaries for C1orf216 Gene

GeneCards Summary for C1orf216 Gene

C1orf216 (Chromosome 1 Open Reading Frame 216) is a Protein Coding gene.

Additional gene information for C1orf216 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 C1orf216 Gene

Genomics for C1orf216 Gene

GeneHancer (GH) Regulatory Elements for C1orf216 Gene

Promoters and enhancers for C1orf216 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
GH01I035717 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 563.1 +0.9 895 2 HDGF ARNT SIN3A YY1 ZNF207 SP3 REST SMARCB1 ZNF592 SMARCA4 C1orf216 ZMYM1 ENSG00000230163 LOC653160 SFPQ ZMYM6 LOC105378647 EVA1B RPL5P4 THRAP3
GH01I035640 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 16.1 +78.1 78064 2.8 PKNOX1 CLOCK SMAD1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 PSMB2 SFPQ ENSG00000230163 LOC653160 ZMYM1 TFAP2E LOC105378647 ZMYM6 C1orf216 THRAP3
GH01I035807 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 9 -88.8 -88849 2.6 HDGF PKNOX1 FOXA2 ARID4B SIN3A ZNF2 YY1 ZNF766 GLIS2 KLF7 AGO4 SFPQ ZMYM1 AGO3 ZMYM6 ENSG00000230163 LOC653160 THRAP3 COL8A2 RPL5P4
GH01I035768 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 8.5 -50.3 -50311 2.7 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 YY1 POLR2B ZNF213 E2F8 CLSPN ENSG00000230163 THRAP3 ZMYM4 ZMYM1 LOC653160 AGO3 LOC105378647 AGO4 TRAPPC3
GH01I035882 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 8.4 -166.2 -166199 6.2 HDGF SMAD1 ARNT ARID4B SIN3A FEZF1 ZNF2 ZNF207 ZNF143 KLF13 AGO1 AGO3 ZMYM4 TEKT2 LOC100128093 ADPRHL2 C1orf216 ENSG00000271164 PIR56740 GC01P035916
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C1orf216 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C1orf216 gene promoter:

Genomic Locations for C1orf216 Gene

Genomic Locations for C1orf216 Gene
chr1:35,713,875-35,719,472
(GRCh38/hg38)
Size:
5,598 bases
Orientation:
Minus strand
chr1:36,179,476-36,185,073
(GRCh37/hg19)

Genomic View for C1orf216 Gene

Genes around C1orf216 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1orf216 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1orf216 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1orf216 Gene

Proteins for C1orf216 Gene

  • Protein details for C1orf216 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TAB5-CA216_HUMAN
    Recommended name:
    UPF0500 protein C1orf216
    Protein Accession:
    Q8TAB5
    Secondary Accessions:
    • D3DPS1
    • Q8N8N6

    Protein attributes for C1orf216 Gene

    Size:
    229 amino acids
    Molecular mass:
    24968 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC04799.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for C1orf216 Gene

Post-translational modifications for C1orf216 Gene

No Post-translational modifications

Other Protein References for C1orf216 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C1orf216 Gene

Domains & Families for C1orf216 Gene

Gene Families for C1orf216 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C1orf216 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C1orf216 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TAB5

UniProtKB/Swiss-Prot:

CA216_HUMAN :
  • Belongs to the UPF0500 family.
Family:
  • Belongs to the UPF0500 family.
genes like me logo Genes that share domains with C1orf216: view

Function for C1orf216 Gene

Gene Ontology (GO) - Molecular Function for C1orf216 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
genes like me logo Genes that share ontologies with C1orf216: view
genes like me logo Genes that share phenotypes with C1orf216: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C1orf216 Gene

Localization for C1orf216 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 C1orf216 gene
Compartment Confidence
nucleus 3
cytosol 3
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for C1orf216 Gene

Pathways & Interactions for C1orf216 Gene

SuperPathways for C1orf216 Gene

No Data Available

Gene Ontology (GO) - Biological Process for C1orf216 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C1orf216 Gene

Drugs & Compounds for C1orf216 Gene

No Compound Related Data Available

Transcripts for C1orf216 Gene

mRNA/cDNA for C1orf216 Gene

Unigene Clusters for C1orf216 Gene

Chromosome 1 open reading frame 216:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1orf216 Gene

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

Relevant External Links for C1orf216 Gene

GeneLoc Exon Structure for
C1orf216
ECgene alternative splicing isoforms for
C1orf216

Expression for C1orf216 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for C1orf216 Gene

mRNA differential expression in normal tissues according to GTEx for C1orf216 Gene

This gene is overexpressed in Brain - Cortex (x4.4) and Brain - Frontal Cortex (BA9) (x4.2).

NURSA nuclear receptor signaling pathways regulating expression of C1orf216 Gene:

C1orf216

SOURCE GeneReport for Unigene cluster for C1orf216 Gene:

Hs.112023

Evidence on tissue expression from TISSUES for C1orf216 Gene

  • Nervous system(3.9)
genes like me logo Genes that share expression patterns with C1orf216: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1orf216 Gene

Orthologs for C1orf216 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1orf216 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1H1orf216 33
  • 99.71 (n)
C1orf216 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C1orf216 34
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1orf216 34
  • 85 (a)
OneToOne
C15H1orf216 33
  • 84.21 (n)
mouse
(Mus musculus)
Mammalia 5730409E04Rik 33 16 34
  • 83.04 (n)
rat
(Rattus norvegicus)
Mammalia LOC100912566 33
  • 83.04 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf216 34
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1ORF216 33
  • 65.17 (n)
C1orf216 34
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1orf216 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf216 33
  • 53.24 (n)
zebrafish
(Danio rerio)
Actinopterygii C1orf216 34
  • 22 (a)
OneToOne
Species where no ortholog for C1orf216 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)
  • platypus (Ornithorhynchus anatinus)
  • 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 C1orf216 Gene

ENSEMBL:
Gene Tree for C1orf216 (if available)
TreeFam:
Gene Tree for C1orf216 (if available)

Paralogs for C1orf216 Gene

No data available for Paralogs for C1orf216 Gene

Variants for C1orf216 Gene

Sequence variations from dbSNP and Humsavar for C1orf216 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1001015676 -- 35,721,003(-) C/T upstream_transcript_variant
rs1001263191 -- 35,714,344(-) G/C 3_prime_UTR_variant
rs1001446925 -- 35,720,583(-) G/A upstream_transcript_variant
rs1001650458 -- 35,717,224(-) A/G intron_variant
rs1001932739 -- 35,717,580(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for C1orf216 Gene

Variant ID Type Subtype PubMed ID
nsv834680 CNV gain 17160897

Variation tolerance for C1orf216 Gene

Residual Variation Intolerance Score: 73.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.25; 25.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1orf216 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1orf216

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1orf216 Gene

Disorders for C1orf216 Gene

Additional Disease Information for C1orf216

No disorders were found for C1orf216 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for C1orf216 Gene

Publications for C1orf216 Gene

  1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. (PMID: 24705354) Butland SL … Hayden MR (Human molecular genetics 2014) 3 58
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H … Mohammed S (Journal of proteome research 2013) 4 58

Products for C1orf216 Gene

Sources for C1orf216 Gene

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