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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
  • 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 Signaling by GPCR and Infectious disease. An important paralog of this gene is ENSG00000276612.

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

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

ENSRs around C21orf33 on UCSC Golden Path with GeneCards custom track

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

Proteomics data for C21orf33 Gene at MOPED

Post-translational modifications for C21orf33 Gene

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

Antibody Products

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

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

CRISPR 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
Jensen Localization Image for C21orf33 Gene COMPARTMENTS Subcellular localization image for C21orf33 gene
Compartment Confidence
mitochondrion 5
cytoskeleton 2
cytosol 2
extracellular 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for C21orf33 Gene

Pathways & Interactions for C21orf33 Gene

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

Interacting Proteins for C21orf33 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000291577%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000250495%0d%0a9606.ENSP00000376076%0d%0a
Selected Interacting proteins: P30042-ES1_HUMAN ENSP00000291577 for C21orf33 Gene via I2D MINT 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:

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 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, MOPED, and MaxQB for C21orf33 Gene



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.
genes like me logo Genes that share expression patterns with C21orf33: view

Protein tissue co-expression partners for C21orf33 Gene

- Elite partner

Primer Products

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
cow
(Bos Taurus)
Mammalia C1H21orf33 35
  • 82.12 (n)
  • 83.91 (a)
ES1 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C31H21orf33 35
  • 84.4 (n)
  • 88.67 (a)
mouse
(Mus musculus)
Mammalia D10Jhu81e 35
  • 83.08 (n)
  • 89.85 (a)
D10Jhu81e 36
  • 87 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C21H21orf33 35
  • 99.25 (n)
  • 99.63 (a)
C21orf33 36
  • 65 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1303003 35
  • 82.83 (n)
  • 88.72 (a)
oppossum
(Monodelphis domestica)
Mammalia C21orf33 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia C21orf33 36
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1H21ORF33 35
  • 73.86 (n)
  • 82.57 (a)
C1H21ORF33 36
  • 74 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C21orf33 36
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c21orf33 35
  • 69.66 (n)
  • 74.36 (a)
Str.15323 35
zebrafish
(Danio rerio)
Actinopterygii Dr.11237 35
zgc:112056 35
  • 73.14 (n)
  • 81.43 (a)
C9H21orf33 36
  • 74 (a)
OneToOne
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

ENSEMBL:
Gene Tree for C21orf33 (if available)
TreeFam:
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
rs2838497 - 44,144,884(+) CGGCA(C/G)TCCAC reference, missense
rs968714 - 44,133,714(+) GAGGG(C/T)CCTGG reference, missense
rs17264865 - 44,140,263(+) TTGCC(A/G)TGGAC intron-variant, reference, missense
rs7676 -- 44,145,591(+) GCAGC(C/T)CCTCA utr-variant-3-prime
rs1059790 -- 44,145,423(+) GATTT(C/T)TAAAG utr-variant-3-prime

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

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

HapMap Linkage Disequilibrium report
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 23 67
  2. 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 23
  3. 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. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PMID: 23128233) Jostins L. … Cho J.H. (Nature 2012) 3

Products for C21orf33 Gene

Sources for C21orf33 Gene

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