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Aliases for C1orf216 Gene

Aliases for C1orf216 Gene

  • Chromosome 1 Open Reading Frame 216 2 3 5
  • UPF0500 Protein C1orf216 3 4

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
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J035717 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 563.1 +0.9 895 2 ZKSCAN8 ZFX MLLT1 GTF2F1 ZNF687 L3MBTL2 ZNF24 CDC5L SMARCA4 POLR2A C1orf216 PIR49848
GH01J035768 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE 16.6 -50.3 -50311 2.7 HDGF NR2F6 SP1 MNT ZFX SPI1 GTF2F1 ZNF687 L3MBTL2 ZSCAN21 CLSPN ZMYM4 AGO3 NCDN DLGAP3 SFPQ C1orf216 ZMYM6 ENSG00000271914 LOC653160
GH01J035640 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 16.1 +78.1 78064 2.8 ZBTB33 FOXA1 SP1 MNT ZFX IRF5 HCFC1 MLLT1 GTF2F1 GTF3C2 PSMB2 SFPQ ZMYM6 TFAP2E LOC653160 TRAPPC3 ZMYM1 C1orf216 ENSG00000230163 THRAP3
GH01J036148 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.8 -431.4 -431376 4.9 SUZ12 SPI1 RAD21 SP1 MNT SMARCE1 ZFX HCFC1 MLLT1 GTF2F1 TRAPPC3 SFPQ MAP7D1 AGO3 THRAP3 COL8A2 RPL5P4 NCDN STK40 ENSG00000271914
GH01J036384 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.8 -668.7 -668661 7.8 CEBPB DACH1 SPI1 MTA3 SP1 MNT POLR3A SMARCE1 ZKSCAN8 ZFX STK40 THRAP3 EVA1B TRAPPC3 AGO3 NCDN ENSG00000271554 ENSG00000116883 SH3D21 ENSG00000271914
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1orf216 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C1orf216 gene promoter:
  • Chx10
  • HOXA5
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • NF-1
  • POU2F1
  • POU2F1a
  • PPAR-alpha

Genomic Locations for C1orf216 Gene

Genomic Locations for C1orf216 Gene
5,598 bases
Minus strand
5,598 bases
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:
    Recommended name:
    UPF0500 protein C1orf216
    Protein Accession:
    Secondary Accessions:
    • D3DPS1
    • Q8N8N6

    Protein attributes for C1orf216 Gene

    229 amino acids
    Molecular mass:
    24968 Da
    Quaternary structure:
    No Data Available
    • 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

Gene Families for C1orf216 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for C1orf216 Gene


Suggested Antigen Peptide Sequences for C1orf216 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53732 (B4DG08_HUMAN)
  • UPF0500 protein C1orf216 (CA216_HUMAN)

Graphical View of Domain Structure for InterPro Entry



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

Function for C1orf216 Gene

Phenotypes From GWAS Catalog 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

Clone Products

  • Applied Biological Materials (abm): Clones for C1orf216 - Now 50% OFF >
  • * C1orf216 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * C1orf216 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

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


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

(2) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(149) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Unigene Clusters for C1orf216 Gene

Chromosome 1 open reading frame 216:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for C1orf216 - Now 50% OFF >
  • * C1orf216 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * C1orf216 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

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

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP2: -

Relevant External Links for C1orf216 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for C1orf216 Gene:


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
(Pan troglodytes)
Mammalia C1H1orf216 34
  • 99.71 (n)
C1orf216 35
  • 99 (a)
(Bos Taurus)
Mammalia C1orf216 35
  • 85 (a)
(Canis familiaris)
Mammalia C1orf216 35
  • 85 (a)
C15H1orf216 34
  • 84.21 (n)
(Mus musculus)
Mammalia 5730409E04Rik 17 35 34
  • 83.04 (n)
(Rattus norvegicus)
Mammalia LOC100912566 34
  • 83.04 (n)
(Monodelphis domestica)
Mammalia C1orf216 35
  • 55 (a)
(Gallus gallus)
Aves C1ORF216 34
  • 65.17 (n)
C1orf216 35
  • 48 (a)
(Anolis carolinensis)
Reptilia C1orf216 35
  • 54 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c1orf216 34
  • 53.24 (n)
(Danio rerio)
Actinopterygii C1orf216 35
  • 22 (a)
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

Gene Tree for C1orf216 (if available)
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

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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