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Aliases for C21orf33 Gene

Aliases for C21orf33 Gene

  • Chromosome 21 Open Reading Frame 33 2 3 5
  • HES1 3 4
  • KNPI 3 4
  • Human HES1 Protein, Homolog To E.Coli And Zebrafish ES1 Protein 3
  • Testis Secretory Sperm-Binding Protein Li 237E 3
  • ES1 Protein Homolog, Mitochondrial 3
  • Keio Novel Protein I 3
  • Protein GT335 4
  • Protein KNP-I 4
  • GT335 3
  • KNPH 3
  • ES1 3

External Ids for C21orf33 Gene

Previous GeneCards Identifiers for C21orf33 Gene

  • GC21P042063
  • GC21P044410
  • GC21P044409
  • GC21P044377
  • GC21P045553
  • GC21P030923

Summaries for C21orf33 Gene

Entrez Gene Summary for C21orf33 Gene

  • This gene encodes a potential mitochondrial protein that is a member of the DJ-1/PfpI gene family. This protein is overexpressed in fetal Down syndrome brain. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

GeneCards Summary for C21orf33 Gene

C21orf33 (Chromosome 21 Open Reading Frame 33) is a Protein Coding gene. Diseases associated with C21orf33 include Down Syndrome and Migraine With Or Without Aura 1. Among its related pathways are Gastric cancer network 1. An important paralog of this gene is LOC102724023.

Gene Wiki entry for C21orf33 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C21orf33 Gene

Genomics for C21orf33 Gene

Regulatory Elements for C21orf33 Gene

Enhancers for C21orf33 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
GH21F044080 1.2 Ensembl ENCODE 16.5 -47.6 -47633 10.9 PKNOX1 SIN3A GLI4 YBX1 YY1 GLIS2 KLF7 FOS SP3 ZNF592 PWP2 TRAPPC10 C21orf33 KRTAP10-3 KRTAP10-5 KRTAP12-1 KRTAP10-6 KRTAP10-12 KRTAP12-4 KRTAP10-9
GH21F044202 1.6 FANTOM5 Ensembl ENCODE 12 +71.9 71889 7.4 HDGF PKNOX1 CREB3L1 WRNIP1 SIN3A FOS JUNB SMARCB1 MEF2D SMARCA4 ICOSLG C21orf33 AIRE TRPM2 TRAPPC10 ENSG00000232124 LOC102725065
GH21F044217 1.5 FANTOM5 Ensembl ENCODE 11.3 +85.9 85850 3.0 HDAC1 PKNOX1 GLI4 FOS CREM EGR2 ZNF263 CBFB TBX21 SP1 ICOSLG C21orf33 PWP2 ENSG00000232124 TRPM2 TRAPPC10 LOC105372832 PIR49071
GH21F044223 1.1 Ensembl ENCODE 11.1 +89.9 89923 1.0 CTCF KLF1 USF1 SUZ12 MAX SIN3A ZIC2 ZNF121 ZNF316 ELK1 C21orf33 PWP2 ICOSLG TRPM2-AS PICSAR PIR49071 LOC105372832
GH21F043985 1.1 Ensembl ENCODE 10.2 -147.6 -147605 0.4 SOX13 SIX4 KLF1 SIN3A ZIC2 CTBP1 POLR2A KLF8 EZH2 ZNF639 AATBC TRAPPC10 RNU6-859P AGPAT3 PWP2 C21orf33 LOC105372829 PIR42091
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around C21orf33 on UCSC Golden Path with GeneCards custom track

Promoters for C21orf33 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for C21orf33 Gene

44,133,605 bp from pter
44,145,723 bp from pter
12,119 bases
Plus strand

Genomic View for C21orf33 Gene

Genes around C21orf33 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C21orf33 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C21orf33 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C21orf33 Gene

Proteins for C21orf33 Gene

  • Protein details for C21orf33 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    ES1 protein homolog, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • A6NFJ6
    • A6NJY7
    • O00650
    • O00660
    • O15011
    • O15012
    • P55346
    • P78474
    • Q92505
    • Q92507

    Protein attributes for C21orf33 Gene

    268 amino acids
    Molecular mass:
    28170 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for C21orf33 Gene


neXtProt entry for C21orf33 Gene

Post-translational modifications for C21orf33 Gene

  • Ubiquitination at Lys 116, Lys 141, and Lys 185
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for C21orf33 Gene

Domains & Families for C21orf33 Gene

Protein Domains for C21orf33 Gene

Suggested Antigen Peptide Sequences for C21orf33 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ES1 family.
  • Belongs to the ES1 family.
genes like me logo Genes that share domains with C21orf33: view

No data available for Gene Families for C21orf33 Gene

Function for C21orf33 Gene

genes like me logo Genes that share phenotypes with C21orf33: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for C21orf33 Gene

Localization for C21orf33 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C21orf33 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 C21orf33 gene
Compartment Confidence
mitochondrion 5
extracellular 2
cytoskeleton 2
cytosol 2

Gene Ontology (GO) - Cellular Components for C21orf33 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IBA --
genes like me logo Genes that share ontologies with C21orf33: view

Pathways & Interactions for C21orf33 Gene

SuperPathways for C21orf33 Gene

SuperPathway Contained pathways
1 Gastric cancer network 1
genes like me logo Genes that share pathways with C21orf33: view

Pathways by source for C21orf33 Gene

1 BioSystems pathway for C21orf33 Gene

Interacting Proteins for C21orf33 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
Selected Interacting proteins: ENSP00000291577 P30042-ES1_HUMAN for C21orf33 Gene via STRING IID

Gene Ontology (GO) - Biological Process for C21orf33 Gene


No data available for SIGNOR curated interactions for C21orf33 Gene

Drugs & Compounds for C21orf33 Gene

(1) Drugs for C21orf33 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for C21orf33 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with C21orf33: view

Transcripts for C21orf33 Gene

Unigene Clusters for C21orf33 Gene

Chromosome 21 open reading frame 33:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C21orf33 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c · 10d · 10e
SP1: - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - - -
SP4: - - - -
SP5: - - - - -
SP6: - - - - - -
SP7: - - - - - -
SP8: - - - - - -
SP9: - - -
SP10: - - - - - - -
SP11: - - - -

Relevant External Links for C21orf33 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for C21orf33 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C21orf33 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C21orf33 Gene

Protein tissue co-expression partners for C21orf33 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of C21orf33 Gene:


SOURCE GeneReport for Unigene cluster for C21orf33 Gene:


mRNA Expression by UniProt/SwissProt for C21orf33 Gene:

Tissue specificity: Ubiquitous, but strongly expressed in heart and skeletal muscle.
genes like me logo Genes that share expression patterns with C21orf33: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for C21orf33 Gene

Orthologs for C21orf33 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C21orf33 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia C21H21orf33 34
  • 99.25 (n)
C21orf33 35
  • 65 (a)
(Canis familiaris)
Mammalia C31H21orf33 34
  • 84.4 (n)
(Mus musculus)
Mammalia D10Jhu81e 34 35
  • 83.08 (n)
(Rattus norvegicus)
Mammalia RGD1303003 34
  • 82.83 (n)
(Bos Taurus)
Mammalia C1H21orf33 34
  • 82.12 (n)
ES1 35
  • 81 (a)
(Ornithorhynchus anatinus)
Mammalia C21orf33 35
  • 74 (a)
(Monodelphis domestica)
Mammalia C21orf33 35
  • 73 (a)
(Gallus gallus)
Aves C1H21ORF33 34 35
  • 73.86 (n)
(Anolis carolinensis)
Reptilia C21orf33 35
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c21orf33 34
  • 69.66 (n)
Str.15323 34
(Danio rerio)
Actinopterygii C9H21orf33 35
  • 74 (a)
zgc:112056 34
  • 73.14 (n)
Dr.11237 34
Species where no ortholog for C21orf33 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 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 C21orf33 Gene

Gene Tree for C21orf33 (if available)
Gene Tree for C21orf33 (if available)

Paralogs for C21orf33 Gene

Paralogs for C21orf33 Gene Pseudogenes for C21orf33 Gene

genes like me logo Genes that share paralogs with C21orf33: view

Variants for C21orf33 Gene

Sequence variations from dbSNP and Humsavar for C21orf33 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs10470253 -- 44,133,066(+) GAATC(C/G)GCGGC upstream-variant-2KB
rs1059790 -- 44,145,423(+) GATTT(C/T)TAAAG nc-transcript-variant, utr-variant-3-prime
rs1059796 -- 44,145,614(+) GACCT(C/T)TGGGG nc-transcript-variant, utr-variant-3-prime
rs1059813 -- 44,141,157(+) CCCCA(C/T)CCACA intron-variant, utr-variant-3-prime
rs111694324 -- 44,139,235(+) ATTGC(A/C)AGATC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C21orf33 Gene

Variant ID Type Subtype PubMed ID
esv33817 CNV loss 17666407
esv3647118 CNV loss 21293372
nsv587721 CNV loss 21841781
nsv587722 CNV loss 21841781
nsv953644 CNV deletion 24416366

Variation tolerance for C21orf33 Gene

Residual Variation Intolerance Score: 71.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.75; 66.47% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for C21orf33 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C21orf33 Gene

Disorders for C21orf33 Gene

MalaCards: The human disease database

(2) MalaCards diseases for C21orf33 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • complete trisomy 21 syndrome
migraine with or without aura 1
  • migraine
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for C21orf33

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with C21orf33: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C21orf33 Gene

Publications for C21orf33 Gene

  1. Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3. (PMID: 9150728) Scott H.S. … Antonarakis S.E. (Hum. Genet. 1997) 2 3 4 22 64
  2. Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3. (PMID: 8975701) Lafreniere R.G. … Rouleau G.A. (Genomics 1996) 2 3 4 64
  3. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (PMID: 21297633) Anderson C.A. … Rioux J.D. (Nat. Genet. 2011) 3 46 64
  4. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. (PMID: 18587394) Barrett J.C. … Daly M.J. (Nat. Genet. 2008) 3 46 64
  5. Expression of cystathionine beta-synthase, pyridoxal kinase, and ES1 protein homolog (mitochondrial precursor) in fetal Down syndrome brain. (PMID: 15082224) Shin J.H. … Lubec G. (Neurochem. Int. 2004) 3 22 64

Products for C21orf33 Gene

Sources for C21orf33 Gene

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