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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.

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

Regulatory Elements for C1orf216 Gene

Enhancers for C1orf216 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
GH01G035636 1.2 Ensembl ENCODE 16.4 +81.6 81556 2.4 HDGF HDAC1 TBL1XR1 NFRKB FEZF1 ZBTB40 GATA2 SCRT2 RELB HCFC1 C1orf216 LOC105378645 TFAP2E KIAA0319L NCDN ENSG00000232335 CLSPN PSMB2 DLGAP3 GC01P035622
GH01G035717 1.4 FANTOM5 ENCODE 13.1 +0.9 913 2.0 HDGF CREB3L1 ARNT AGO1 SIN3A YY1 ZNF207 KLF13 SP3 REST LOC653160 C1orf216 ENSG00000230163 ZMYM1 SFPQ LOC105378647 EVA1B PIR49848
GH01G035640 1.1 ENCODE 16.1 +78.0 77962 2.6 PKNOX1 FOXA2 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZMYM1 ENSG00000230163 SFPQ TFAP2E LOC653160 LOC105378647 C1orf216 THRAP3 TRAPPC3 LOC105378645
GH01G035768 1.4 Ensembl ENCODE 8.5 -50.3 -50311 2.7 HDGF PKNOX1 FOXA2 CREB3L1 AGO1 ARID4B SIN3A DMAP1 YY1 ZNF207 C1orf216 ENSG00000116883 CLSPN ENSG00000232335
GH01G035882 1.4 ENCODE dbSUPER 8.4 -166.2 -166200 6.2 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A FEZF1 ZNF2 ZNF207 ZNF143 AGO3 ZMYM4 LOC100128093 TEKT2 ADPRHL2 C1orf216 ENSG00000271164 GC01P035916 PIR56740
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C1orf216 on UCSC Golden Path with GeneCards custom track

Promoters for C1orf216 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000004703 672 1600 HDGF CREB3L1 ARNT AGO1 SIN3A YY1 ZNF207 KLF13 SP3 REST

Genomic Location for C1orf216 Gene

Chromosome:
1
Start:
35,713,875 bp from pter
End:
35,719,472 bp from pter
Size:
5,598 bases
Orientation:
Minus strand

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

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

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

No data available for Gene Families for C1orf216 Gene

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

Animal Model Products

CRISPR Products

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 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

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:

CRISPR Products

Inhibitory RNA Products

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

Primer Products

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 34
  • 99.71 (n)
C1orf216 35
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C1orf216 35
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1orf216 35
  • 85 (a)
OneToOne
C15H1orf216 34
  • 84.21 (n)
mouse
(Mus musculus)
Mammalia 5730409E04Rik 34 16 35
  • 83.04 (n)
rat
(Rattus norvegicus)
Mammalia LOC100912566 34
  • 83.04 (n)
oppossum
(Monodelphis domestica)
Mammalia C1orf216 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1ORF216 34
  • 65.17 (n)
C1orf216 35
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1orf216 35
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf216 34
  • 53.24 (n)
zebrafish
(Danio rerio)
Actinopterygii C1orf216 35
  • 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 Sequence Context AA Info Type
rs1001015676 -- 35,721,003(+) GAAGA(C/T)GAGGC intron-variant, upstream-variant-2KB
rs1001263191 -- 35,714,344(+) ACACT(C/G)TCCCC utr-variant-3-prime
rs1001446925 -- 35,720,583(+) TAGCT(A/G)GGATT downstream-variant-500B, upstream-variant-2KB, utr-variant-3-prime
rs1001650458 -- 35,717,224(+) CCTCC(A/G)GTTAA intron-variant
rs1001932739 -- 35,717,580(+) AATAT(C/T)ACATA 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)

Relevant External Links 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

Relevant External Links for C1orf216

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Nat. Genet. 2004) 3 4 64
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 64
  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 S.L. … Hayden M.R. (Hum. Mol. Genet. 2014) 3 64
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3 64
  5. Toward a comprehensive characterization of a human cancer cell phosphoproteome. (PMID: 23186163) Zhou H. … Mohammed S. (J. Proteome Res. 2013) 4 64

Products for C1orf216 Gene

Sources for C1orf216 Gene

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