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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
  • ES1 Protein Homolog 2
  • Protein GT335 4
  • Protein KNP-I 4
  • GATD3 3
  • 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 CIViC summary , 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
GH21G044080 1.5 Ensembl ENCODE dbSUPER 16.5 -47.6 -47633 10.9 PKNOX1 AGO1 SIN3A GLI4 YBX1 YY1 GLIS2 FOS KLF7 SP3 PWP2 TRAPPC10 C21orf33 U2AF1 PFKL PIR47770 H2AFZP1
GH21G044205 1.5 Ensembl ENCODE dbSUPER 12 +73.5 73502 3.4 HDGF PKNOX1 ATF1 WRNIP1 SIN3A ZBTB7B TCF12 GATA2 ELK1 FOS C21orf33 ICOSLG AIRE LOC102725065 ENSG00000232124
GH21G044217 1.1 ENCODE dbSUPER 11.3 +85.0 84975 1.2 HDAC1 PKNOX1 ATF1 GLI4 ZNF766 RELB ETV6 IKZF2 KLF13 CREM C21orf33 PWP2 ICOSLG LOC105372832 PIR49071
GH21G044223 1.1 Ensembl ENCODE 11.1 +89.9 89923 1.0 RB1 SIN3A ZNF121 ELK1 ZNF143 SP3 GATAD2B MBD2 SP1 MAFF C21orf33 PWP2 ICOSLG TRPM2-AS PICSAR PIR49071 LOC105372832
GH21G043985 1.1 ENCODE dbSUPER 10.2 -147.6 -147591 0.2 SOX13 SIX4 KLF1 LEF1 AGO1 SIN3A RBBP5 CTBP1 POLR2A KLF8 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
ENSR00000143017 -5 2001 HDGF HNRNPUL1 PKNOX1 MLX CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1

Genomic Location for C21orf33 Gene

Chromosome:
21
Start:
44,133,605 bp from pter
End:
44,145,723 bp from pter
Size:
12,119 bases
Orientation:
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:
    P30042-ES1_HUMAN
    Recommended name:
    ES1 protein homolog, mitochondrial
    Protein Accession:
    P30042
    Secondary Accessions:
    • A6NFJ6
    • A6NJY7
    • O00650
    • O00660
    • O15011
    • O15012
    • P55346
    • P78474
    • Q92505
    • Q92507

    Protein attributes for C21orf33 Gene

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

    Alternative splice isoforms for C21orf33 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C21orf33 Gene

Post-translational modifications for C21orf33 Gene

  • Ubiquitination at posLast=116116, Lys141, and posLast=185185
  • 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

P30042

UniProtKB/Swiss-Prot:

ES1_HUMAN :
  • Belongs to the ES1 family.
Family:
  • Belongs to the ES1 family.
genes like me logo Genes that share domains with C21orf33: view

Function for C21orf33 Gene

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

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone 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

Mitochondrion.

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 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 5 interactants - click image to see 11)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000291577%0d%0a9606.ENSP00000362987%0d%0a9606.ENSP00000295908%0d%0a9606.ENSP00000356988%0d%0a9606.ENSP00000225698%0d%0a9606.ENSP00000370377%0d%0a
Selected Interacting proteins: P30042-ES1_HUMAN ENSP00000291577 for C21orf33 Gene via IID STRING

Gene Ontology (GO) - Biological Process for C21orf33 Gene

None

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:

CRISPR Products

Inhibitory RNA Products

Clone 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
C21orf33
ECgene alternative splicing isoforms for
C21orf33

Expression for C21orf33 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, 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:

C21orf33

SOURCE GeneReport for Unigene cluster for C21orf33 Gene:

Hs.413482

mRNA Expression by UniProt/SwissProt for C21orf33 Gene:

P30042-ES1_HUMAN
Tissue specificity: Ubiquitous, but strongly expressed in heart and skeletal muscle.

Evidence on tissue expression from TISSUES for C21orf33 Gene

  • Nervous system(4.8)
  • Lung(4.5)
  • Liver(4.3)
  • Muscle(2.6)
  • Skin(2.6)
genes like me logo Genes that share expression patterns with C21orf33: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia C21H21orf33 34
  • 99.25 (n)
C21orf33 35
  • 65 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C31H21orf33 34
  • 84.4 (n)
mouse
(Mus musculus)
Mammalia D10Jhu81e 34 35
  • 83.08 (n)
rat
(Rattus norvegicus)
Mammalia RGD1303003 34
  • 82.83 (n)
cow
(Bos Taurus)
Mammalia C1H21orf33 34
  • 82.12 (n)
ES1 35
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C21orf33 35
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C21orf33 35
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H21ORF33 34 35
  • 73.86 (n)
lizard
(Anolis carolinensis)
Reptilia C21orf33 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c21orf33 34
  • 69.66 (n)
Str.15323 34
zebrafish
(Danio rerio)
Actinopterygii C9H21orf33 35
  • 74 (a)
OneToOne
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

ENSEMBL:
Gene Tree for C21orf33 (if available)
TreeFam:
Gene Tree for C21orf33 (if available)

Paralogs for C21orf33 Gene

Paralogs for C21orf33 Gene

Pseudogenes.org 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
rs1000154936 -- 44,146,111(+) ATTCT(A/G)CCGCC downstream-variant-500B
rs1000691184 -- 44,133,742(+) GCGGC(A/G)TCTGC nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon
rs1001011303 -- 44,142,496(+) TGGAC(A/G)ACACA intron-variant
rs1001294632 -- 44,132,038(+) CGATG(G/T)ACACC upstream-variant-2KB
rs1001325828 -- 44,131,751(+) TAGAG(A/T)GTGGA upstream-variant-2KB

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
C21orf33

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)
C21orf33
Human Genome Epidemiology (HuGE) Navigator
C21orf33
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
C21orf33
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. ES1 is a mitochondrial enlarging factor contributing to form mega-mitochondria in zebrafish cones. (PMID: 26926452) Masuda T. … Kawamura S. (Sci Rep 2016) 2 3 64
  4. 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
  5. 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

Products for C21orf33 Gene

Sources for C21orf33 Gene

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