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Aliases for C21orf33 Gene

Aliases for C21orf33 Gene

  • Chromosome 21 Open Reading Frame 33 2 3
  • HES1 3 4 6
  • KNPI 3 4
  • ES1 3 6
  • Human HES1 Protein, Homolog To E.Coli And Zebrafish ES1 Protein 3
  • ES1 Protein Homolog, Mitochondrial 3
  • Keio Novel Protein I 3
  • Protein GT335 4
  • Protein KNP-I 4
  • GT335, 6
  • GT335 3
  • KNPH 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 anophthalmia/microphthalmia. Among its related pathways are Signaling by GPCR and Disease. 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for C21orf33 Gene

44,133,605 bp from pter
44,202,944 bp from pter
69,340 bases
Plus strand

Genomic View for C21orf33 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for C21orf33 Gene at MOPED

Post-translational modifications for C21orf33 Gene

  • Ubiquitination at Lys116, Lys141, and Lys185
  • Modification sites at PhosphoSitePlus

Other Protein References for C21orf33 Gene

Antibody Products

No data available for DME Specific Peptides for C21orf33 Gene

Domains 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



  • P30042
  • 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

Animal Model Products

CRISPR Products

miRNA for C21orf33 Gene

miRTarBase miRNAs that target C21orf33

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C21orf33

In Situ Assay Products

Flow Cytometry Products

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

Localization for C21orf33 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C21orf33 Gene


Subcellular locations from

Jensen Localization Image for C21orf33 Gene COMPARTMENTS Subcellular localization image for C21orf33 gene
Compartment Confidence
mitochondrion 3
cytosol 2
extracellular 1

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 for C21orf33 Gene

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

Pathways by source for C21orf33 Gene

Interacting Proteins for C21orf33 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
Selected Interacting proteins: P30042-ES1_HUMAN ENSP00000291577 for C21orf33 Gene via MINT STRING I2D

Gene Ontology (GO) - Biological Process for C21orf33 Gene


Compounds for C21orf33 Gene

(2) Novoseek inferred chemical compound relationships for C21orf33 Gene

Compound -log(P) Hits PubMed IDs
pyridoxal 56.5 2
retinoic acid 8.67 4
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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C21orf33

Primer 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 for C21orf33 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for C21orf33 Gene

SOURCE GeneReport for Unigene cluster for C21orf33 Gene Hs.413482

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 expressions with C21orf33: view

Expression partners for C21orf33 Gene

In Situ Assay 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
(Bos Taurus)
Mammalia C1H21orf33 35
  • 82.12 (n)
  • 83.91 (a)
ES1 36
  • 81 (a)
(Canis familiaris)
Mammalia C31H21orf33 35
  • 84.4 (n)
  • 88.67 (a)
(Mus musculus)
Mammalia D10Jhu81e 35
  • 83.08 (n)
  • 89.85 (a)
D10Jhu81e 16
D10Jhu81e 36
  • 87 (a)
(Pan troglodytes)
Mammalia C21H21orf33 35
  • 99.25 (n)
  • 99.63 (a)
C21orf33 36
  • 65 (a)
(Rattus norvegicus)
Mammalia RGD1303003 35
  • 82.83 (n)
  • 88.72 (a)
(Monodelphis domestica)
Mammalia C21orf33 36
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia C21orf33 36
  • 74 (a)
(Gallus gallus)
Aves C1H21ORF33 35
  • 73.86 (n)
  • 82.57 (a)
C1H21ORF33 36
  • 74 (a)
(Anolis carolinensis)
Reptilia C21orf33 36
  • 76 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia c21orf33 35
  • 69.66 (n)
  • 74.36 (a)
Str.15323 35
(Danio rerio)
Actinopterygii Dr.11237 35
zgc:112056 35
  • 73.14 (n)
  • 81.43 (a)
C9H21orf33 36
  • 74 (a)
Species with no ortholog for C21orf33:
  • 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

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 MAF
rs7676 -- 44,145,591(+) GCAGC(C/T)CCTCA utr-variant-3-prime, intron-variant
rs364052 -- 44,165,864(+) GACTG(C/G)CCAGG intron-variant
rs364053 -- 44,165,886(+) AGATG(A/G)CTGCC intron-variant
rs384738 -- 44,170,592(+) TGCCG(C/T)CTCTG intron-variant
rs410586 -- 44,170,790(+) ACACT(C/T)TTGGG intron-variant

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

Variant ID Type Subtype PubMed ID
esv33817 CNV Loss 17666407
nsv913887 CNV Loss 21882294
nsv913890 CNV Loss 21882294
dgv4764n71 CNV Loss 21882294
dgv4765n71 CNV Loss 21882294
dgv4766n71 CNV Loss 21882294
nsv913898 CNV Loss 21882294

Relevant External Links for C21orf33 Gene

HapMap Linkage Disequilibrium report

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

Disorders for C21orf33 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for C21orf33 Gene in MalaCards »

(2) Diseases for C21orf33 Gene including...

(4) Novoseek inferred disease relationships for C21orf33 Gene

Disease -log(P) Hits PubMed IDs
down syndrome 36.6 1
tumors 14.6 1
cancer 10.4 1
breast cancer 9 2

Relevant External Links for C21orf33

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with C21orf33: view

No data available for OMIM , UniProtKB/Swiss-Prot , University of Copenhagen DISEASES 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 23
  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
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  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 48
  5. 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 48

Products for C21orf33 Gene

Sources for C21orf33 Gene

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